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Sample records for canine rod-cone dysplasia

  1. Real-time PCR genotyping assay for canine progressive rod-cone degeneration and mutant allele frequency in Toy Poodles, Chihuahuas and Miniature Dachshunds in Japan.

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    Kohyama, Moeko; Tada, Naomi; Mitsui, Hiroko; Tomioka, Hitomi; Tsutsui, Toshihiko; Yabuki, Akira; Rahman, Mohammad Mahbubur; Kushida, Kazuya; Mizukami, Keijiro; Yamato, Osamu

    2016-03-01

    Canine progressive rod-cone degeneration (PRCD) is a middle- to late-onset, autosomal recessive, inherited retinal disorder caused by a substitution (c.5G>A) in the canine PRCD gene that has been identified in 29 or more purebred dogs. In the present study, a TaqMan probe-based real-time PCR assay was developed and evaluated for rapid genotyping and large-scale screening of the mutation. Furthermore, a genotyping survey was carried out in a population of the three most popular breeds in Japan (Toy Poodles, Chihuahuas and Miniature Dachshunds) to determine the current mutant allele frequency. The assay separated all the genotypes of canine PRCD rapidly, indicating its suitability for large-scale surveys. The results of the survey showed that the mutant allele frequency in Toy Poodles was high enough (approximately 0.09) to allow the establishment of measures for the prevention and control of this disorder in breeding kennels. The mutant allele was detected in Chihuahuas for the first time, but the frequency was lower (approximately 0.02) than that in Toy Poodles. The mutant allele was not detected in Miniature Dachshunds. This assay will allow the selective breeding of dogs from the two most popular breeds (Toy Poodle and Chihuahua) in Japan and effective prevention or control of the disorder.

  2. Canine Hip Dysplasia: Diagnostic Imaging.

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    Butler, J Ryan; Gambino, Jennifer

    2017-07-01

    Diagnostic imaging is the principal method used to screen for and diagnose hip dysplasia in the canine patient. Multiple techniques are available, each having advantages, disadvantages, and limitations. Hip-extended radiography is the most used method and is best used as a screening tool and for assessment for osteoarthritis. Distraction radiographic methods such as the PennHip method allow for improved detection of laxity and improved ability to predict future osteoarthritis development. More advanced techniques such as MRI, although expensive and not widely available, may improve patient screening and allow for improved assessment of cartilage health. Copyright © 2017 Elsevier Inc. All rights reserved.

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

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    Pfahler, Sophia; Distl, Ottmar

    2012-01-01

    A genome-wide association study for canine hip dysplasia (CHD) and canine elbow dysplasia (CED) using the Illumina canine high density bead chip had been performed for 174 Bernese mountain dogs. General and mixed linear model analysis identified two different regions with single nucleotide polymorphisms (SNPs) on dog chromosome (CFA) 14 significantly associated with CHD and a further significantly CHD-associated region on CFA37. For CED, four SNPs on CFA11 and 27 were significantly associated. The identified SNPs of four associated regions included nearby candidate genes. These possible positional candidates were the genes PON2 on CFA14 and FN1 on CFA37 for CHD and the genes LMNB1 on CFA11 and WNT10B on CFA27 for CED.

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

    Directory of Open Access Journals (Sweden)

    Sophia Pfahler

    Full Text Available A genome-wide association study for canine hip dysplasia (CHD and canine elbow dysplasia (CED using the Illumina canine high density bead chip had been performed for 174 Bernese mountain dogs. General and mixed linear model analysis identified two different regions with single nucleotide polymorphisms (SNPs on dog chromosome (CFA 14 significantly associated with CHD and a further significantly CHD-associated region on CFA37. For CED, four SNPs on CFA11 and 27 were significantly associated. The identified SNPs of four associated regions included nearby candidate genes. These possible positional candidates were the genes PON2 on CFA14 and FN1 on CFA37 for CHD and the genes LMNB1 on CFA11 and WNT10B on CFA27 for CED.

  5. Etiopathogenesis of Canine Hip Dysplasia, Prevalence, and Genetics.

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    King, Michael D

    2017-07-01

    First identified in 1935, canine hip dysplasia is thought to be the most common orthopedic condition diagnosed in the dog. It is most prevalent in large and giant breed dogs, with a complex polygenic mode of inheritance, and relatively low heritability. External factors including caloric intake when growing have a significant effect on phenotypic expression. Initial joint laxity progresses to osteoarthritis due to subluxation and abnormal wearing. Selective breeding programs to attempt to decrease prevalence have shown modest results so far. Copyright © 2017 Elsevier Inc. All rights reserved.

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

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    Schachner ER

    2015-05-01

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

  7. Inter-rater agreement in radiographic canine hip dysplasia evaluation.

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    Geissbühler, U; Drazovic, S; Lang, J; Howard, J

    2017-04-08

    The objective was to determine the agreement between scrutineers assessing canine hip dysplasia (CHD) within and between the Fédération Cynologique Internationale (FCI) and the Swiss (CH) grading schemes, and between first-opinion and second-opinion scrutineers using the CH scheme. 62 scrutineers, participating in a quality assessment programme, were asked to evaluate 12 sets of hip radiographs. All radiographs had been previously evaluated by a first-opinion and 7 by both a first-opinion and second-opinion scrutineers using the CH scheme. Inter-rater agreement (κ) and intraclass correlation (ICC) were evaluated for the Norberg angle and dysplasia grades, and ICC for the numerical CH scores. The κ and ICC were 0.290 and 0.471 for Norberg angles, 0.372 and 0.577 for FCI grades, and 0.417 and 0.567 for CH grades, respectively. The ICC for CH scores was 0.614. Total agreement for grades was found in a single case. For radiographs evaluated using both schemes, raters gave the same grade in 441 cases, a lower FCI than CH grade in 78 cases and a lower CH than FCI grade in 32 cases. Intrarater agreement between grades of the two schemes was 0.786. Agreement between the first-opinion and second-opinion scrutineers was 0.250 for Norberg angles and -0.286 for CH grades. Although agreement between the two schemes was good, agreement between scrutineers using either scheme was only fair to moderate, and no agreement was found between first-opinion and second-opinion scrutineers. Application of the FCI and CH schemes may impact the incidence of hip dysplasia in populations with both severe and moderate dysplasia, but is unlikely to impact populations with only mild dysplasia. The CH system of first-opinion and second-opinion examinations should be re-evaluated. British Veterinary Association.

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

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    Zhengkui Zhou

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

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

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    Ginja M

    2015-05-01

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

  10. Genomic prediction of traits related to canine hip dysplasia

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    Enrique eSanchez-Molano

    2015-03-01

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

  11. Association between pelvic muscle mass and canine hip dysplasia.

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    Cardinet, G H; Kass, P H; Wallace, L J; Guffy, M M

    1997-05-15

    To investigate the relationship between pelvic muscle mass and development and expression of canine hip dysplasia (CHD). Prospective study. 5 Greyhounds with anatomically normal hip joints, 59 German Shepherd Dogs (23 with CHD, 24 with near-normal hip joints, and 12 with normal hip joints), and 18 German Shepherd Dog-Greyhound crossbreeds (7 with CHD, 6 with near-normal hip joints, and 5 with normal hip joints) between 12 and 47 months old in which pelvic muscle mass was evaluated. Pectineal muscle and hip joint development were evaluated in 25 German Shepherd Dogs at 8 and 16 or 24 weeks of age. For evaluation of pelvic muscle mass, individual pelvic muscles were weighed and hip joints were assigned a score on the basis of severity of degenerative changes. For evaluation of pectineal muscle development, muscle sections were stained and examined. Pelvic muscle mass was greatest in Greyhounds, intermediate in crossbred dogs, and smallest in German Shepherd Dogs. Differences in pelvic muscle mass among breeds were attributable to differences in weights of individual muscles. Hip score was negatively correlated with pelvic muscle mass and weights of selected pelvic muscles. Dogs with pectineal hypotrophy at 8 weeks of age had type-2 muscle fiber paucity or muscle fiber-type grouping at 16 or 24 weeks of age. At 8 weeks of age, hip joints were composed of multiple centers of ossification, and the acetabulum was largely cartilaginous. By 24 weeks of age, the pelvic bones were largely, although incompletely, fused. Diminished pelvic muscle mass in dogs with CHD and altered muscle fiber size and composition in 8-week-old dogs that subsequently develop CHD strongly suggest that abnormalities of pelvic musculature are associated with development of CHD. The complex development of the hip joint from multiple centers of ossification may make the joint susceptible to abnormal modeling forces that would result from abnormalities in pelvic muscle mass.

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

    NARCIS (Netherlands)

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

    2014-01-01

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

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

    NARCIS (Netherlands)

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

    2014-01-01

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

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

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    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

  15. Canine hip and elbow dysplasia in UK Labrador retrievers.

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    Woolliams, J A; Lewis, T W; Blott, S C

    2011-08-01

    This paper examines the outcomes from recent genetic analyses of hip and elbow scores from British Veterinary Association (BVA)/UK Kennel Club (KC) screening programmes targeted at reducing the prevalence of hip dysplasia (HD) and elbow dysplasia in UK Labrador retrievers. The analyses made use of 25,243 hip scores and 3613 elbow scores. Heritabilities (± standard error) for hip score, analysed on a log scale, and for elbow score were 0.35±0.02 and 0.19±0.04, respectively, with a genetic correlation of 0.41±0.09. For both hip and elbow scores, there was a near perfect genetic correlation between the left and right joint; analysis of hip score showed a predictive benefit of using the total of left and right scores rather than worst score and the benefit of using all component scores rather than their aggregate score. Downward genetic trends were observed in both hip and elbow scores, although the latter was consistent with it being correlated to response to genetic change in hip score. Estimated breeding values (EBVs) offered substantial benefits in accuracy and hence genetic progress when compared to the use of phenotypes for both hip and elbow scores. There are major opportunities for improving selection against elbow dysplasia through the use of bivariate evaluations, although progress against dysplasia would be improved by more widespread elbow scoring. The studies highlighted a number of ways in which data recording for addressing complex traits may be improved in the future. Ongoing advances in genomic technology may be utilised for increasing the rate of genetic progress in selection against HD and for complex diseases in general, through the use of genomic evaluations. Copyright © 2011. Published by Elsevier Ltd.

  16. Restoration of Vision in the pde6β-deficient Dog, a Large Animal Model of Rod-cone Dystrophy

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    Petit, Lolita; Lhériteau, Elsa; Weber, Michel; Le Meur, Guylène; Deschamps, Jack-Yves; Provost, Nathalie; Mendes-Madeira, Alexandra; Libeau, Lyse; Guihal, Caroline; Colle, Marie-Anne; Moullier, Philippe; Rolling, Fabienne

    2012-01-01

    Defects in the β subunit of rod cGMP phosphodiesterase 6 (PDE6β) are associated with autosomal recessive retinitis pigmentosa (RP), a childhood blinding disease with early retinal degeneration and vision loss. To date, there is no treatment for this pathology. The aim of this preclinical study was to test recombinant adeno-associated virus (AAV)-mediated gene addition therapy in the rod-cone dysplasia type 1 (rcd1) dog, a large animal model of naturally occurring PDE6β deficiency that strongly resembles the human pathology. A total of eight rcd1 dogs were injected subretinally with AAV2/5RK.cpde6β (n = 4) or AAV2/8RK.cpde6β (n = 4). In vivo and post-mortem morphological analysis showed a significant preservation of the retinal structure in transduced areas of both AAV2/5RK.cpde6β- and AAV2/8RK.cpde6β-treated retinas. Moreover, substantial rod-derived electroretinography (ERG) signals were recorded as soon as 1 month postinjection (35% of normal eyes) and remained stable for at least 18 months (the duration of the study) in treated eyes. Rod-responses were undetectable in untreated contralateral eyes. Most importantly, dim-light vision was restored in all treated rcd1 dogs. These results demonstrate for the first time that gene therapy effectively restores long-term retinal function and vision in a large animal model of autosomal recessive rod-cone dystrophy, and provide great promise for human treatment. PMID:22828504

  17. Physical Rehabilitation for the Management of Canine Hip Dysplasia.

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    Dycus, David L; Levine, David; Marcellin-Little, Denis J

    2017-07-01

    Hip dysplasia is among the most common orthopedic conditions affecting dogs. Joint laxity is responsible for abnormal development of the femoral head and acetabulum, leading to excessive wear of the articular cartilage. Wear leads to secondary osteoarthritis. Rehabilitation is either conservative or after surgical management. Conservative rehabilitation therapies are directed at decreasing pain, improving hip range of motion (ROM), and building or maintaining muscle mass. Postoperatively, rehabilitation focuses on decreasing postoperative pain and inflammation, improving comfort and limb use, and protecting the surgical site. Once the patient has healed, rehabilitation is directed at improving ROM and promoting muscle mass. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. The role of osteonecrosis in canine coronoid dysplasia: arthroscopic and histopathological findings.

    Science.gov (United States)

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

    2014-06-01

    Coronoid dysplasia (CD) or medial coronoid disease is part of canine elbow dysplasia and eventually results in osteoarthrosis. Although CD was originally attributed to disturbed endochondral ossification, more recent data point to the subchondral bone. The objective of this study was to assess dysplastic bone and cartilage of dogs that underwent unilateral or bilateral arthroscopic subtotal coronoidectomy for the treatment of CD. Arthroscopic findings and histopathology of bone and cartilage removed from elbow joints with CD were compared. The most common arthroscopic finding was fragmentation with softening of the subchondral bone of the central part of the medial coronoid process. In dogs without obvious fragmentation, CD was characterised by bone softening and chondromalacia. During arthroscopic intervention dysplastic bone and cartilage were collected for histopathological assessment. Forty-five slices of formalin-fixed, paraffin-embedded bone and cartilage samples were stained using haematoxylin and eosin and evaluated. Histopathological findings primarily consisted of osteonecrosis of subchondral bone with necrosis within the marrow spaces. Histopathological changes in the articular cartilage were characterised by fibrillation, chondrocyte clone formation, and focal cartilage necrosis. The pathology was found primarily in the subchondral bone and not in the articular cartilage. Vascular compromise may play a role in the pathogenesis of osteonecrosis in CD.

  19. Progesterone receptor isoform analysis by quantitative real-time polymerase chain reaction in formalin-fixed, paraffin-embedded canine mammary dysplasias and tumors

    DEFF Research Database (Denmark)

    Guil-Luna, S.; Stenvang, Jan; Brünner, Nils;

    2014-01-01

    and its isoforms in formalin-fixed, paraffin-embedded tissue samples from canine mammary lesions (4 dysplasias, 10 benign tumors, and 46 carcinomas) using 1-step SYBR Green quantitative real-time polymerase chain reaction (RT-qPCR). Progesterone receptor was expressed in 75% of dysplasias, all benign...

  20. A Genetic Predictive Model for Canine Hip Dysplasia: Integration of Genome Wide Association Study (GWAS) and Candidate Gene Approaches

    Science.gov (United States)

    Bartolomé, Nerea; Segarra, Sergi; Artieda, Marta; Francino, Olga; Sánchez, Elisenda; Szczypiorska, Magdalena; Casellas, Joaquim; Tejedor, Diego; Cerdeira, Joaquín; Martínez, Antonio; Velasco, Alfonso; Sánchez, Armand

    2015-01-01

    Canine hip dysplasia is one of the most prevalent developmental orthopedic diseases in dogs worldwide. Unfortunately, the success of eradication programs against this disease based on radiographic diagnosis is low. Adding the use of diagnostic genetic tools to the current phenotype-based approach might be beneficial. The aim of this study was to develop a genetic prognostic test for early diagnosis of hip dysplasia in Labrador Retrievers. To develop our DNA test, 775 Labrador Retrievers were recruited. For each dog, a blood sample and a ventrodorsal hip radiograph were taken. Dogs were divided into two groups according to their FCI hip score: control (A/B) and case (D/E). C dogs were not included in the sample. Genetic characterization combining a GWAS and a candidate gene strategy using SNPs allowed a case-control population association study. A mathematical model which included 7 SNPs was developed using logistic regression. The model showed a good accuracy (Area under the ROC curve = 0.85) and was validated in an independent population of 114 dogs. This prognostic genetic test represents a useful tool for choosing the most appropriate therapeutic approach once genetic predisposition to hip dysplasia is known. Therefore, it allows a more individualized management of the disease. It is also applicable during genetic selection processes, since breeders can benefit from the information given by this test as soon as a blood sample can be collected, and act accordingly. In the authors’ opinion, a shift towards genomic screening might importantly contribute to reducing canine hip dysplasia in the future. In conclusion, based on genetic and radiographic information from Labrador Retrievers with hip dysplasia, we developed an accurate predictive genetic test for early diagnosis of hip dysplasia in Labrador Retrievers. However, further research is warranted in order to evaluate the validity of this genetic test in other dog breeds. PMID:25874693

  1. A genetic predictive model for canine hip dysplasia: integration of Genome Wide Association Study (GWAS and candidate gene approaches.

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    Nerea Bartolomé

    Full Text Available Canine hip dysplasia is one of the most prevalent developmental orthopedic diseases in dogs worldwide. Unfortunately, the success of eradication programs against this disease based on radiographic diagnosis is low. Adding the use of diagnostic genetic tools to the current phenotype-based approach might be beneficial. The aim of this study was to develop a genetic prognostic test for early diagnosis of hip dysplasia in Labrador Retrievers. To develop our DNA test, 775 Labrador Retrievers were recruited. For each dog, a blood sample and a ventrodorsal hip radiograph were taken. Dogs were divided into two groups according to their FCI hip score: control (A/B and case (D/E. C dogs were not included in the sample. Genetic characterization combining a GWAS and a candidate gene strategy using SNPs allowed a case-control population association study. A mathematical model which included 7 SNPs was developed using logistic regression. The model showed a good accuracy (Area under the ROC curve = 0.85 and was validated in an independent population of 114 dogs. This prognostic genetic test represents a useful tool for choosing the most appropriate therapeutic approach once genetic predisposition to hip dysplasia is known. Therefore, it allows a more individualized management of the disease. It is also applicable during genetic selection processes, since breeders can benefit from the information given by this test as soon as a blood sample can be collected, and act accordingly. In the authors' opinion, a shift towards genomic screening might importantly contribute to reducing canine hip dysplasia in the future. In conclusion, based on genetic and radiographic information from Labrador Retrievers with hip dysplasia, we developed an accurate predictive genetic test for early diagnosis of hip dysplasia in Labrador Retrievers. However, further research is warranted in order to evaluate the validity of this genetic test in other dog breeds.

  2. A genetic predictive model for canine hip dysplasia: integration of Genome Wide Association Study (GWAS) and candidate gene approaches.

    Science.gov (United States)

    Bartolomé, Nerea; Segarra, Sergi; Artieda, Marta; Francino, Olga; Sánchez, Elisenda; Szczypiorska, Magdalena; Casellas, Joaquim; Tejedor, Diego; Cerdeira, Joaquín; Martínez, Antonio; Velasco, Alfonso; Sánchez, Armand

    2015-01-01

    Canine hip dysplasia is one of the most prevalent developmental orthopedic diseases in dogs worldwide. Unfortunately, the success of eradication programs against this disease based on radiographic diagnosis is low. Adding the use of diagnostic genetic tools to the current phenotype-based approach might be beneficial. The aim of this study was to develop a genetic prognostic test for early diagnosis of hip dysplasia in Labrador Retrievers. To develop our DNA test, 775 Labrador Retrievers were recruited. For each dog, a blood sample and a ventrodorsal hip radiograph were taken. Dogs were divided into two groups according to their FCI hip score: control (A/B) and case (D/E). C dogs were not included in the sample. Genetic characterization combining a GWAS and a candidate gene strategy using SNPs allowed a case-control population association study. A mathematical model which included 7 SNPs was developed using logistic regression. The model showed a good accuracy (Area under the ROC curve = 0.85) and was validated in an independent population of 114 dogs. This prognostic genetic test represents a useful tool for choosing the most appropriate therapeutic approach once genetic predisposition to hip dysplasia is known. Therefore, it allows a more individualized management of the disease. It is also applicable during genetic selection processes, since breeders can benefit from the information given by this test as soon as a blood sample can be collected, and act accordingly. In the authors' opinion, a shift towards genomic screening might importantly contribute to reducing canine hip dysplasia in the future. In conclusion, based on genetic and radiographic information from Labrador Retrievers with hip dysplasia, we developed an accurate predictive genetic test for early diagnosis of hip dysplasia in Labrador Retrievers. However, further research is warranted in order to evaluate the validity of this genetic test in other dog breeds.

  3. A retrospective study on findings of canine hip dysplasia screening in Kenya

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    Peter Kimeli

    2015-11-01

    Full Text Available Aim: The current study was undertaken to evaluate the findings of canine hip dysplasia screening in Kenya. Materials and Methods: Records for 591 dogs were included in this study. The data was obtained from the national screening office, Kenya Veterinary Board, for the period between the years 1998 and 2014. Monthly screening records were assessed and information relating to year of evaluation, breed, sex, age, and hip score captured. Descriptive statistics of hip scores was computed based on year, sex, age, and breed. Results: A total of 591 records from the year 1998 to 2014 were retrieved at the National Screening Centre, the Kenya Veterinary Board. Each record was examined and data pertaining to year of screening, the breed, sex, age of the dogs, and the total hip score were recorded. The highest number of dogs screened for hip dysplasia (HD was in the year 2009 and the lowest in the year 1998. More females than males were screened for HD and the mean age of all the dogs was 22.9±12.7 months. The most common breeds of dogs screened during the study period were German Shepherd (67.0%, Rottweiler (15.6%, and Labrador Retriever (12.2%. The mean hip score for the 591 dogs was 15.1±10.9 and the median 12.0. The mean hip scores per breed were; German Shepherd (16.3±12.1; Golden Retriever (16.0; Hungarian Vizla (15.0; Labrador Retriever (3.0±6.7; Great Dane (13.3±3.2; Rottweiler (12.2±8.2; Doberman (10.3±4.2; Rhodesian Ridgeback (9.6±3.8; and Boxer (9.3±0.6. Based on the hip score, moderate to severe HD was diagnosed in 16.6% of the dogs, mild HD in 32.7%, Borderline HD in 37.7%, fair HD in 6.9%, and good HD in 6.1%. Conclusion: Canine HD is a common occurrence in Kenya with most dogs suffering mild to border line HD. In addition, German Shepherd and Golden Retriever appear to be the most affected breeds. It is therefore recommended that stringent measures be imposed to dog breeding programs to avoid transmission of this undesirable trait

  4. CELLULAR BASIS FOR ROD-CONE INTERACTIONS IN THE OUTER RETINA

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    David Križaj

    2002-12-01

    Full Text Available Background. At least twice daily our retinas move between a light adapted, cone-dominated (photopic state and a dark-adapted, color-blind and highly light-sensitive roddominated (scotopic state. In between is a rather ill-defined transitional state called the mesopic state in which retinal circuits express both rod and cone signals. Consequently, in the mesopic state the retinal output to the brain contained in the firing patterns of the ganglion cells consists of information derived from both rod and cone signals. Morphology, physiology and psychophysics all contributed to an understanding that the two systems are not independent but interact extensively via both pooling and mutual inhibition. This review lays down a rationale for such rod-cone interactions in the vertebrate retinas. It suggests that the important functional roles of rod-cone interactions is in that they shorten the duration of the mesopic state. As a result, the retina is maintained in either in the (rod-dominated high sensitivity photon counting mode or in the second mode which emphasizes temporal transients and spatial resolution (the cone-dominated photopic state.Conclusions. Experimental evidence for pre- and postsynaptic mixing of rod and cone signals in the retina is shown together with the preeminent neuromodulatory role of both light and dopamine in controling inter-actions between rod and cone signals. Dopamine is shown to be both necessary and sufficient to mediate light adaptation in the retina.

  5. Canine hip dysplasia: phenotypic scoring and the role of estimated breeding value analysis.

    Science.gov (United States)

    Soo, M; Worth, Aj

    2015-03-01

    Canine hip dysplasia (CHD) is a developmental orthopaedic disease of the coxofemoral joints with a multifactorial mode of inheritance. Multiple gene effects are influenced by environmental factors; therefore, it is unlikely that a simple genetic screening test with which to identify susceptible individuals will be developed in the near future. In the absence of feasible methods for objectively quantifying clinical CHD, radiographic techniques have been developed and widely used to identify dogs for breeding which are less affected by the disease. A hip-extended ventrodorsal view of the pelvis has been traditionally used to identify dogs with subluxation and/or osteoarthritis of the coxofemoral joints. More recently, there has been emphasis on the role of coxofemoral joint laxity as a determinant of CHD and methods have been developed to measure passive hip laxity. Though well-established worldwide, the effectiveness of traditional phenotypic scoring schemes in reducing the prevalence of CHD has been variable. The most successful implementation of traditional CHD scoring has occurred in countries or breeding colonies with mandatory scoring and open registries with access to pedigree records. Several commentators have recommended that for quantitative traits like CHD, selection of breeding stock should be based on estimated breeding values (EBV) rather than individual hip score/grade. The EBV is a reflection of the genetic superiority of an animal compared to its counterparts and is calculated from the phenotype of an individual and its relatives and their pedigree relationship. Selecting breeding stock on the basis of a dog's genetic merit, ideally based on a highly predictive phenotype, will confer the breeder with greater selection power, accelerate genetic improvement towards better hip conformation and thus more likely decrease the prevalence of CHD.

  6. [Multivariate genetic analysis of canine hip and elbow dysplasia as well as humeral osteochondrosis in the Bernese mountain dog].

    Science.gov (United States)

    Hartmann, Peter; Stock, Kathrin Friederike; Distl, Ottmar

    2010-01-01

    In the present study genetic parameters for canine hip dysplasia (CHD), canine elbow dysplasia (CED) and osteochondrosis dissecans of the humeral head (OCD) were analysed in Bernese mountain dogs. The data set included the official scores for CHD and CED from 5534 Bernese mountain dogs born in the years 1995-2008. A multivariate linear animal model was employed to estimate heritabilities, additive genetic and residual correlations using residual maximum likelihood (REML). Heritability estimates were h2 = 0.26 for CHD, h2 = 0.22 for CED and h2 = 0.40 for OCD. The additive genetic correlation between CHD and CED was 0.31, between CHD and OCD 0.25, and between CED und OCD -0.49. A further multivariate analysis of the prevalence of the FCP (fragmented coronoid processus), CHD and OCD revealed a heritability of h2 = 0.59 for FCP. The additive genetic correlations among FCP and CHD as well CED except FCP were positive, but negative with OCD. Multivariately estimated breeding values will lead to higher genetic progress because the correlation structure of the traits can be taken into account and possible genetic antagonisms among traits are better reflected in the breeding values.

  7. Viral vectors for targeting the canine retina: a review.

    Science.gov (United States)

    Petersen-Jones, Simon M

    2012-09-01

    Clinical trials are currently underway using gene therapy to treat retinal disease such as Leber congenital amaurosis (LCA). Viral vectors that have been utilized to target retinal cells include adenoviruses, lentiviruses, and recombinant adeno-associated viruses (rAAV). Of the three classes, rAAV vectors show the greatest promise for retinal gene therapy. Recent developments in virus technology such as the development of hybrid and capsid mutant rAAV vectors mean that specific retinal cells can be targeted and faster stronger transgene expression is now possible compared to that achieved with the first generation of vectors. Gene therapy trials in dogs have been very important in the development of therapy for RPE65 LCA which is currently in phase I/II clinical trials in humans. Recent successes in using gene therapy to treat canine achromatopsia, X-linked progressive retinal atrophy (PRA) and the more severe rapid degenerations such as rod-cone dysplasia type 3 may lead also to the translation to human clinical trials. Dogs have played and continue to play an important role as animal models for proof-of-concept studies of retinal gene therapy. As modifications and improvements in gene therapy protocols are made from experience gathered from human clinical trials perhaps gene therapy for the treatment of canine clinical patients will become available to veterinary ophthalmologists. © 2012 American College of Veterinary Ophthalmologists.

  8. The effects of positioning, reason for screening and the referring veterinarian on prevalence estimates of canine hip dysplasia.

    Science.gov (United States)

    Broeckx, B J G; Verhoeven, G; Coopman, F; Van Haeringen, W; Bosmans, T; Gielen, I; Henckens, S; Saunders, J H; van Bree, H; Van Ryssen, B; Verbeke, V; Van Steendam, K; Van Nieuwerburgh, F; Deforce, D

    2014-09-01

    Although the prevalence of canine hip dysplasia (HD) has been the subject of a number of published studies, estimates vary widely. This study evaluated several possible causes for these differences. Sixty Belgian, Dutch and German veterinarians were asked to submit all hip radiographs obtained for screening purposes (irrespective of HD status) over a 2-year period, resulting in a database of 583 dogs. Each set of radiographs was accompanied by information on the reason for screening (breeding soundness examination, clinical complaint, assistance dogs, or other reasons), and dog breed, date of birth and age. Dog positioning exerted an effect at multiple levels. The agreement among different observers regarding correct or incorrect positioning was limited and incorrect positioning itself reduced the inter-observer agreement for radiographic hip conformation. Dysplastic dogs were more commonly positioned incorrectly than non-dysplastic dogs. The clinical complaint population had a high prevalence of dysplastic dogs (>70%) compared with the breeding population (11%) and the assistance dogs (6%). There was a significantly lower prevalence of HD among cases referred by veterinarians who frequently submitted hip-extended radiographs for evaluation (P = 0.002) compared to those who refer less frequently. However, this was likely to be selection bias, as radiographs that were from dogs suspected to be dysplastic were not submitted by frequent senders. The prevalence of dysplastic dogs varied widely between breeds (16.7-71.4%). Dogs diagnosed with dysplasia were significantly older than dogs considered healthy (P = 0.001) and dogs classified as borderline dysplastic (P = 0.035). Inter-observer agreement for hip conformation was moderately low, resulting in >7% variation in prevalence estimates for dysplasia. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Identification and validation of quantitative trait loci (QTL for canine hip dysplasia (CHD in German Shepherd Dogs.

    Directory of Open Access Journals (Sweden)

    Lena Fels

    Full Text Available Canine hip dysplasia (CHD is the most common hereditary skeletal disorder in dogs. To identify common alleles associated with CHD, we genotyped 96 German Shepherd Dogs affected by mild, moderate and severe CHD and 96 breed, sex, age and birth year matched controls using the Affymetrix canine high density SNP chip. A mixed linear model analysis identified five SNPs associated with CHD scores on dog chromosomes (CFA 19, 24, 26 and 34. These five SNPs were validated in a by sex, age, birth year and coancestry stratified sample of 843 German Shepherd Dogs including 277 unaffected dogs and 566 CHD-affected dogs. Mean coancestry coefficients among and within cases and controls were <0.1%. Genotype effects of these SNPs explained 20-32% of the phenotypic variance of CHD in German Shepherd Dogs employed for validation. Genome-wide significance in the validation data set could be shown for each one CHD-associated SNP on CFA24, 26 and 34. These SNPs are located within or in close proximity of genes involved in bone formation and related through a joint network. The present study validated positional candidate genes within two previously known quantitative trait loci (QTL and a novel QTL for CHD in German Shepherd Dogs.

  10. Lumbosacral transitional vertebrae, canine hip dysplasia, and sacroiliac joint degenerative changes on ventrodorsal radiographs of the pelvis in police working German shepherd dogs.

    Science.gov (United States)

    Komsta, Renata; Łojszczyk-Szczepaniak, Anna; Dębiak, Piotr

    2015-03-01

    Lumbosacral transitional vertebrae (LTV) frequently occur in German shepherd dogs. The aim of the study was to evaluate the prevalence and interdependence between LTV and canine hip dysplasia (CHD) as well as sacroiliac joint degenerative changes visualized on ventrodorsal radiographs of the pelvis in both working and companion German shepherd dogs. The presence of LTV was found in 12% of working dogs and in 33% of companion dogs. Similar incidence of hip dysplasia in both the groups was found. It has been shown that dogs with LTV have a higher frequency of severe CHD. A higher percentage of sacroiliac joint degenerative changes was observed in dogs with no signs of LTV and in working dogs.

  11. Heritability and Phenotypic Variation of Canine Hip Dysplasia Radiographic Traits in a Cohort of Australian German Shepherd Dogs

    Science.gov (United States)

    Wilson, Bethany J.; Nicholas, Frank W.; James, John W.; Wade, Claire M.; Tammen, Imke; Raadsma, Herman W.; Castle, Kao; Thomson, Peter C.

    2012-01-01

    Canine Hip Dysplasia (CHD) is a common, painful and debilitating orthopaedic disorder of dogs with a partly genetic, multifactorial aetiology. Worldwide, potential breeding dogs are evaluated for CHD using radiographically based screening schemes such as the nine ordinally-scored British Veterinary Association Hip Traits (BVAHTs). The effectiveness of selective breeding based on screening results requires that a significant proportion of the phenotypic variation is caused by the presence of favourable alleles segregating in the population. This proportion, heritability, was measured in a cohort of 13,124 Australian German Shepherd Dogs born between 1976 and 2005, displaying phenotypic variation for BVAHTs, using ordinal, linear and binary mixed models fitted by a Restricted Maximum Likelihood method. Heritability estimates for the nine BVAHTs ranged from 0.14–0.24 (ordinal models), 0.14–0.25 (linear models) and 0.12–0.40 (binary models). Heritability for the summed BVAHT phenotype was 0.30±0.02. The presence of heritable variation demonstrates that selection based on BVAHTs has the potential to improve BVAHT scores in the population. Assuming a genetic correlation between BVAHT scores and CHD-related pain and dysfunction, the welfare of Australian German Shepherds can be improved by continuing to consider BVAHT scores in the selection of breeding dogs, but that as heritability values are only moderate in magnitude the accuracy, and effectiveness, of selection could be improved by the use of Estimated Breeding Values in preference to solely phenotype based selection of breeding animals. PMID:22761846

  12. Canine Hip Dysplasia Screening Within the United States: Pennsylvania Hip Improvement Program and Orthopedic Foundation for Animals Hip/Elbow Database.

    Science.gov (United States)

    Reagan, Jennifer K

    2017-07-01

    Canine hip dysplasia (CHD) is a complex, polygenic disease radiographically associated with hip subluxation and development of osteoarthritis. Screening programs have been established with the goal of hip improvement, with the most common in the United States being OFA hip scoring and the PennHIP method. When evaluating the single hip-extended view used by OFA versus the 3 radiographic views and associated distraction index (DI) used by PennHIP for CHD screening, the scientific evidence supports the use of the DI and PennHIP method. OFA scoring can be used to effect hip improvement, especially when incorporated into estimated breeding values. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Kidney Dysplasia

    Science.gov (United States)

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

  14. [Multivariate prediction of breeding values for canine hip and elbow dysplasia as well as humeral osteochondrosis in the Bernese mountain dog].

    Science.gov (United States)

    Hartmann, Peter; Stock, Kathrin-Friederike; Distl, Ottmar

    2012-01-01

    The aim of this study was the multivariate prediction of breeding values for canine hip dysplasia (CHD), elbow dysplasia (ED) and humeral osteochondrosis (OCD) for Bernese mountain dogs of the Schweizer Sennenhund-Verein für Deutschland e. V. (SSV). For the analysis the pedigrees of eight generations and radiographic screening results of the birth cohorts from 1995-2008 were used. The number of dogs with scores for CHD was 5513, for ED 5175 and OCD 1240. Breeding values were multivariately predicted using a mixed linear model for CHD, ED and OCD as well as for the occurrence of a fragmented coronoid process of the medial ulna (FCP) and the ED-score without FCP. The pedigree breeding value (eRZWp) which is used as the selection criterion reached a reliability to predict the phenotype of the offspring at 2.8-2.9% for CHD, 2.9% for ED, 1.1% for ED without FCP, 1.8% for FCP and 0.8-1.3% for OCD. The reason for the low predictive value of the eRZW(P) is caused by the very high influence of the own performance of the animal and the very uniform distribution of contributions of the breeding values of the relatives.These results indicate that even a multivariate prediction of breeding values does not lead to a faster progress in breeding against CHD and ED, however, does allow breeding against OCD in the Bernese mountain dog. In comparison to phenotypic selection, there is some improvement in the selection response when using breeding values. Due to the general low predictive power of breeding values better approaches for selection of future breeding animals are urgently warranted to achieve improvements in breeding Bernese mountain dogs.

  15. Denervação capsular percutânea no tratamento da displasia coxofemoral canina Percutaneous hip denervation for the treatment of canine hip dysplasia

    Directory of Open Access Journals (Sweden)

    André Luis Selmi

    2009-04-01

    Full Text Available A displasia coxofemoral canina (DCF é uma afecção ortopédica freqüente, comumente dolorosa, decorrente de instabilidade e que leva à doença articular degenerativa. Várias formas de tratamento cirúrgico são descritas, entre elas a denervação capsular a céu aberto. Neste trabalho, é descrita a denervação capsular percutânea e seus efeitos em 92 cães com sensibilidade dolorosa na articulação do quadril atribuída à DCF. Foram avaliados os seguintes aspectos: o grau de claudicação (CLAUD, a dor por escala analógica visual, a perimetria da coxa (PC e os graus máximos de extensão (GME e flexão (GMF passiva do quadril imediatamente antes da cirurgia e aos sete, 15, 30, 180 e 360 dias de pós-operatório (p.o.. Os animais foram pré-medicados e submetidos à anestesia geral inalatória e, posteriormente, a borda acetabular crânio-dorsal foi denervada por meio da introdução percutânea de um pino de Steinman com aproximadamente 4,5mm de diâmetro. A CLAUD e a dor foram analisadas por meio da ANOVA e do teste de Friedman. A PC, a GME e a GMF foram analisadas por meio da ANOVA e do teste de Tukey. Foi observada melhora significativa na CLAUD e dor a partir dos 15 dias de p.o. A GME apresentou aumento significativo já aos 30 dias de p.o., enquanto que a PC apresentou aumento significativo após os 60 dias de p.o. Conclui-se que a denervação capsular percutânea é alternativa cirúrgica eficaz em restabelecer a movimentação do quadril displásico e promove melhora significativa da dor e claudicação.Canine hip dysplasia is a common painfull orthopedic disorder, resulting from articular instability and causing degenerative joint disease. Several treatment options are available, including capsular denervation. This study describes the results of percutaneous capsular denervation in 92 dogs diagnosed with hip dysplasia. Lameness (LAM and pain on palpation (PN were determined using a visual analogue scale (VAS, muscle girth

  16. Morgan line and its relationship with distraction index, angle of inclination and degenerative joint disease in the diagnosis of canine hip dysplasia

    Directory of Open Access Journals (Sweden)

    F.G. Miranda

    2016-08-01

    Full Text Available ABSTRACT We evaluated 160 hip joint radiographs of 40 dogs of different large breeds (25 females and 15 males from the metropolitan area of Belo Horizonte, Minas Gerais, Brazil. The radiographs of each dog were obtained at two different stages: stage 1 (mean 7.23 months and stage 2 (mean 14.25. The conventional radiographic method (CRM and the radiographic distraction method (RDM were used, carried out in both stages. CRM measured the Norberg angle (NA, the angle of inclination (AI and evaluated the presence of degenerative joint disease (DJD. The MRD was performed to establish the distraction index (DI. The aims were to evaluate the presence of the Morgan line and other signs of DJD and correlate them with the degree of canine hip dysplasia (CHD and also check if the DI greater than 0.3 (first stage was associated with the presence of ML (second stage. It was found that DI, AI and changes of femoral neck and the formation of osteophytes were associated with the presence of ML. It was observed that if the DI is greater than 0.3 at the first stage, the chance of a positive outcome of ML in the second stage increases by 7.2 times. Thus, 49 joints showed DI > 0.3 at the first stage, in which 31 (63.3 % presented ML at the second stage. Of the 31 animals that showed DI ≤ 0.3 at first, six (19.4% had LM at the second stage. There has been a significant association between the presence of ML and the degree of CHD. The more severe the CHD, the higher the percentage of positive ML results. Thus, among the 24 (60 % animals that showed ML, 11 (45.83 % were classified as severe dysplastics, 5 (20.83% as moderate and 8 (33.33 % as mild. None of the animals classified as normal or borderline presented ML. Among the 8 animals classified as mild dysplastics, 5 showed only ML as DJD.

  17. Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency

    OpenAIRE

    Casal, Margret L.; Mauldin, Elizabeth A.; Ryan, Sara; Scheidt, Jennifer L.; Kennedy, Jeffrey; Moore, Peter F.; Felsburg, Peter J.

    2005-01-01

    As in many human patients with X-linked hypohidrotic ectodermal dysplasia (XHED), XHED dogs are at an increased risk for pulmonary disorders. Localized immune system defects had been suspected previously in affected dogs because of frequent infections and unexpected deaths due to opportunistic respiratory tract infections. Experiments were designed to examine systemic and localized humoral and cellular responses, development and function of T cells, and thymic morphology. All dogs used in the...

  18. Ectodermal dysplasia

    Science.gov (United States)

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

  19. Fibrous dysplasia

    Science.gov (United States)

    ... chap 22. Czerniak B. Fibrous dysplasia and related lesions. In: Czerniak B, ed. Bone Tumors. 2nd ... Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also ...

  20. Ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Sonia Saggoo

    2009-01-01

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

  1. Desnervação capsular percutânea ou aberta no tratamento da dor na displasia coxofemoral canina Percutaneous versus open hip denervation in the treatment of canine pain hip dysplasia

    Directory of Open Access Journals (Sweden)

    Gisele Francine da Silva

    2012-04-01

    Full Text Available A desnervação capsular (DC se baseia na desperiostização da borda acetabular e tem sido utilizada como uma das técnicas de alívio da dor articular em cães displásicos. Compararam-se as técnicas de DC percutânea e aberta, aplicadas em 25 cães, que apresentaram diagnóstico clínico e radiográfico de displasia coxofemoral, totalizando 31 cirurgias. Os efeitos das técnicas foram comparados, em período de 180 dias, por meio de avaliação subjetiva de claudicação e dor, perimetria da coxa, graus máximos de flexão e extensão da articulação coxofemoral e amplitude de movimento articular. Os graus de claudicação e dor apresentaram decréscimo significativo ao longo do período avaliado em ambos os grupos, sem apresentarem diferenças quando comparados entre si. Com relação à perimetria da coxa, flexão, extensão e amplitude de movimento articular, foi observado o aumento dos valores numéricos destas variáveis ao longo do estudo. Baseado nos achados, concluiu-se que a abordagem percutânea ou aberta na DC produz similitude nas variáveis avaliadas, e ambas trazem bons resultados.Joint capsule denervation is based on removal of sensitive fibers from the acetabular edge and has been used as one of the techniques to joint pain relief in the canine dysplastic hip. This study compared the techniques of percutaneous and open hip denervation in 25 dogs that showed clinical and radiographic signs of hip dysplasia, totaling 31 surgeries. The effects of the techniques were evaluated and compared in a period of 180 days following surgery, including subjective evaluation of lameness and pain, thigh girth, maximum degree of hip flexion and extension and range of motion (ROM. Degree of lameness and pain significantly decreased during the study period for both groups, and no difference could be observed between groups. Thigh girth, degree of flexion, extension and ROM presented an increase in the numerical values throughout the study

  2. Distrator articular no diagnóstico radiográfico precoce da displasia coxofemoral em cães Articular distractor in the early radiographic diagnosis of canine hip dysplasia

    Directory of Open Access Journals (Sweden)

    R.C.S. Tôrres

    2005-02-01

    Full Text Available Foram estudadas radiograficamente as articulações coxofemorais de 60 cães de diferentes raças (32 fêmeas e 28 machos, com o objetivo de se estabelecer o diagnóstico precoce da displasia coxofemoral (DCF. Os exames foram feitos em idade jovem (7,2± 1,2 meses e repetidos em idade adulta (14,4± 1,6 meses. Utilizaram-se os métodos radiográfico convencional (MRC e radiográfico por distração (MRD, feito com o auxílio de um dispositivo, especialmente idealizado e confeccionado para o experimento. Observou-se correlação (PAiming the canine hip dysplasia (CHD early diagnosis, 60 dogs of both sexes (32 females and 28 males and of different breeds had their hip joints radiographically studied. The X ray examinations were taken in early age (7.2± 1.2 months and repeated at adult age (14.4± 1.6 months using the conventional radiographic method (CRM and the radiographic distraction method (RDM performed, by its turn, with a new device, specially designed or this experiment. In order to quantify the relationship between the femoral head and the acetabulus the Norberg Angle (NA was measured at CRM and the distraction index (DI was calculated at RDM. There was a significant statistical correlation (P<0.001 between DI of the first examination and NA of the second examination. The cut off for sick and normal subjects for DI was 0.35. The dogs with DI values greater than 0,35 presented radiographic signals of degenerative joint disease (DJD. Interestingly, the highest was the DI; the greatest were the radiographic signals of DJD. Four animals considered normal when CRM was performed at second examination had DI superior than 0.35 at first examination. This fact shows that false negative results can occur when only the conventional method is used. Two of three sick dogs that had DI values bellow 0.35 were classified as borderline by CRM. This confirms the indefinite of this class. The association of CRM and the proposed method showed to be

  3. Canine Parvovirus

    Science.gov (United States)

    ... as a way to limit spread of canine parvovirus infection as well as other diseases that can ... Although this brochure provides basic information about canine parvovirus, your veterinarian is always your best source of ...

  4. 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.

  5. Genome wide analysis indicates genes for basement membrane and cartilage matrix proteins as candidates for hip dysplasia in Labrador Retrievers

    NARCIS (Netherlands)

    Lavrijsen, Ineke; Leegwater, Peter; Martin, AJ; Harris, SJ; Tryfonidou, Marianna; Heuven, Henri; Hazewinkel, Herman

    2014-01-01

    Hip dysplasia, an abnormal laxity of the hip joint, is seen in humans as well as dogs and is one of the most common skeletal disorders in dogs. Canine hip dysplasia is considered multifactorial and polygenic, and a variety of chromosomal regions have been associated with the disorder. We performed a

  6. 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

  7. Análisis cinemático mediante videografía de alta velocidad en la displasia de cadera canina - Kinematic analysis using high speed videography in canine hip dysplasia

    Directory of Open Access Journals (Sweden)

    Vilar, JM

    2010-01-01

    Full Text Available ResumenEl objetivo de este trabajo consiste en proporcionar aquellos parámetros lineares, angulares y temporales en un perro de raza bulldog con displasia de cadera mediante el analisis cinematico con videografía de alta velocidad.SummaryThe purpose of this paper is to provide linear,angular and temporal parameters of a bulldog with hip dysplasia. The analysis was performed using high speed videography

  8. Análisis cinemático mediante videografía de alta velocidad en la displasia de cadera canina - Kinematic analysis using high speed videography in canine hip dysplasia

    OpenAIRE

    Vilar, JM; Morales M; Morales, I.; F. Miró; Martinez, A; Rodríguez, O

    2012-01-01

    ResumenEl objetivo de este trabajo consiste en proporcionar aquellos parámetros lineares, angulares y temporales en un perro de raza bulldog con displasia de cadera mediante el analisis cinematico con videografía de alta velocidad.SummaryThe purpose of this paper is to provide linear,angular and temporal parameters of a bulldog with hip dysplasia. The analysis was performed using high speed videography.

  9. Genetics Home Reference: Greenberg dysplasia

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Greenberg dysplasia Greenberg dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Greenberg dysplasia is a severe condition characterized by specific ...

  10. Cervical dysplasia - series (image)

    Science.gov (United States)

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

  11. Metatropic dysplasia lethal variants

    Energy Technology Data Exchange (ETDEWEB)

    Hall, Christine M. [Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, WCIN 3JH, London (United Kingdom); Elcioglu, Nursel H. [Department of Pediatric Genetics, Marmara University Hospital, Istanbul (Turkey)

    2004-01-01

    Background: The metatropic dysplasia group includes fibrochondrogenesis, Schneckenbecken dysplasia and metatropic dysplasia (various forms). The overlapping features of this group with other dysplasias may cause diagnostic confusion, particularly in perinatal lethal cases. Objective: To attempt to classify the radiological findings of the presented eight sporadic cases based on a broad review of the perinatally lethal metatropic group of conditions and to discuss some overlapping features in the light of current knowledge. Results: The first four cases are of recognised conditions, namely lethal metatropic dysplasia (Type 2) or hyperchondrogenesis, lethal hyperplastic metatropic dysplasia (Type 1) and fibrochondrogenesis. The remaining four cases cannot be categorised accurately and are different from each other but with some features of the metatropic group of dysplasias. Conclusions: The dysplasias within the metatropic dysplasia group are phenotypically distinct from many forms of chondrodysplasia but the pathogenesis still remains poorly understood from the morphological and molecular perspectives. Chondro-osseous morphology might be helpful in all lethal cases especially in our last four cases. (orig.)

  12. Current developments in canine genetics.

    Science.gov (United States)

    Marschall, Yvonne; Distl, Ottmar

    2010-01-01

    In recent years, canine genetics had made huge progress. In 1999 the first complete karyotype and ideogram of the dog was published. Several linkage and RH maps followed. Using these maps, sets of microsatellite markers for whole genome scans were compiled. In 2003 the sequencing of the DNA of a female Boxer began. Now the second version of the dog genome assembly has been put online, and recently, a microchip SNP array became available. Parallel to these developments, some causal mutations for different traits have been identified. Most of the identified mutations were responsible for monogenic canine hereditary diseases. With the tools available now, it is possible to use the advantages of the population structure of the various dog breeds to unravel complex genetic traits. Furthermore, the dog is a suitable model for the research of a large number of human hereditary diseases and particularly for cancer genetics, heart and neurodegenerative diseases. There are some examples where it was possible to benefit from the knowledge of canine genetics for human research. The search for quantitative trait loci (QTL), the testing of candidate genes and genome-wide association studies can now be performed in dogs. QTL for skeletal size variations and for canine hip dysplasia have been already identified and for these complex traits the responsible genes and their possible interactions can now be identified.

  13. Canine Distemper

    Science.gov (United States)

    ... infects wild canids (e.g. foxes, wolves, coyotes), raccoons, skunks, and ferrets. How is Canine Distemper virus ... dogs should always be avoided. Similarly, contact with raccoons, foxes, skunks, and other potentially infected wildlife should ...

  14. Canine pyometra

    National Research Council Canada - National Science Library

    Melanie HAAS; Franz-Josef KAUP; Stephan NEUMANN

    2016-01-01

    .... Thus, we used naturally occurring canine pyometra as a model of inflammation, in order to examine the behavior of serum CXCL8 in relation to the disease intensity and commonly analyzed inflammatory mediators...

  15. Spondylo-costal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.

    1984-02-01

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

  16. Cervical deciduosis imitating dysplasia.

    Science.gov (United States)

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

    2015-09-22

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

  17. Focal cortical dysplasia - review.

    Science.gov (United States)

    Kabat, Joanna; Król, Przemysław

    2012-04-01

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

  18. 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.

  19. Gracile bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

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

    2002-09-01

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

  20. Mandibulo-acral dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2000-11-01

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

  1. Canine gastritis.

    Science.gov (United States)

    Webb, Craig; Twedt, David C

    2003-09-01

    Gastritis--inflammation of the stomach--is a frequently cited differential yet rarely characterized diagnosis in cases of canine anorexia and vomiting. Although the list of rule-outs for acute or chronic gastritis is extensive, a review of the veterinary literature reveals fewer than 15 articles that have focused on clinical cases of canine gastritis over the last 25 years. The dog frequently appears in the human literature as an experimentally manipulated model for the study of endoscopic techniques or the effect of medications on gastric mucosa. In the veterinary patient, cases of acute gastritis are rarely pursued with the complete diagnostic armamentarium, and cases of chronic gastritis are rarely found to occur as an entity isolated from the rest of the gastrointestinal tract. This article focuses on those findings most clinically relevant to cases of canine gastritis in veterinary medicine.

  2. 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.

  3. CONSERVATIVE TREATMENT OF HIP DYSPLASIA

    OpenAIRE

    Михаил Михайлович Камоско; Махмуд Станиславович Познович

    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 ...

  4. Presença de "Linha Morgan" como indicador de displasia coxofemoral em cães da raça Pastor-Alemão Presence of Morgan-Line as an indicator of canine hip dysplasia in German Shepherd dogs

    Directory of Open Access Journals (Sweden)

    R.C.S. Tôrres

    1999-04-01

    Full Text Available The aim of this study was to determine the relationship between the presence of Morgan line and hip dysplasia. From June, 1986 to October, 1993, 190 X-ray plates of German Shepherd dogs, from both sexes were collected and analyzed. The results showed that out of the 190 dogs evaluated, 136 (71.6% had hip dysplasia, 43 (22.6% presented Morgan line and 41 (21.5% showed both of them. Just two (1.1% dogs presented Morgan line without hip dysplasia. No statistically significant difference was found between males (21.8% and females (23.3%. From this study it can be concluded that the presence of the Morgan line can be considered indicative to hip dysplasia diagnosis, even though the absence of the line does not exclude the possibility of hip dysplasia.

  5. 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...

  6. Lumbar-sacral dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Schumacher, M.; Thron, A.

    1984-09-01

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

  7. Phenotypic and genetic evaluation of elbow dysplasia in Dutch Labrador Retrievers, Golden Retrievers, and Bernese Mountain Dogs

    NARCIS (Netherlands)

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

    2012-01-01

    Canine elbow dysplasia encompasses four developmental diseases: ununited anconeal process, osteochondrosis of the medial part of the humeral condyle, fragmented medial coronoid process (FCP), and incongruity of the elbow joint. Four radiographic views per joint were used to evaluate 2693 Labrador

  8. [Craniofacial fibrous dysplasia].

    Science.gov (United States)

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

    2016-12-01

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

  9. Case Presentation of Concomitant and Contiguous Adenomatoid Odontogenic Tumor and Focal Cemento-Ossifying Dysplasia.

    Science.gov (United States)

    Rezvani, Gita; Donoghue, Mandana; Reichart, Peter A; Pazuhi, Neda

    2015-01-01

    A 24 year-old male was presented for the diagnosis of an asymptomatic bony expansion in relation to the right maxillary canine and first premolar. The unilocular radiolucent lesion with central foci of calcification had caused divergence of canine and first premolar roots without any resorption. This case report details a diagnosis of two distinct disease processes of different cellular origin namely, focal cemento-ossifying dysplasia and adenomatoid odontogenic tumor in a previously unreported concomitant and contiguous relationship. The diagnosis was determined by a combination of clinical, radiographic, histopathological and surgical evidence. This case highlights two points, first the need to examine all mixed radiolucent-radiopaque lesions with advanced imaging techniques to assess the number and extent of the lesions prior to treatment planning. Second a likely role of periodontal ligament as the tissue source for odontogenic epithelial cells and mesenchymal stem cells required for the development of odontogenic tumors and cemento-osseous dysplasias.

  10. 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

  11. Patterson-Lowry rhizomelic dysplasia: a potentially lethal bone dysplasia?

    Energy Technology Data Exchange (ETDEWEB)

    Kamoda, T.; Nakajima, R.; Matsui, A. [Dept. of Paediatrics, Univ. of Tsukuba, Ibaraki (Japan); Nishimura, G. [Dept. of Radiology, Nasu Chuou Hospital, Tochigi (Japan)

    2001-02-01

    We report a Japanese boy, who is considered as having Patterson-Lowry rhizomelic dysplasia, a rare, as yet undefined, skeletal dysplasia. The diagnosis was warranted by the constellation of skeletal abnormalities - mild platyspondyly, hypoplastic ilia, broad proximal femora with prominent lesser trochanters, mild brachymetacarpalia and, most importantly, rhizomelic shortening of the upper limbs with lateral bowing, medial cortical thickening, and medial metaphyseal notching of the humeri. Our patient, unlike previously reported patients, had respiratory distress and died suddenly of unknown cause in late infancy. Our experience may imply the heterogeneity or phenotypic variability of Patterson-Lowry rhizomelic dysplasia. (orig.)

  12. Evaluation of Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Zelal Baskan

    2006-04-01

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

  13. Ellis-Van Creveld Dysplasia

    Science.gov (United States)

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

  14. Genetics Home Reference: otospondylomegaepiphyseal dysplasia

    Science.gov (United States)

    ... the body that this condition affects: the ears (oto-), the bones of the spine (spondylo-), and the ... dwarfism Nance-Insley syndrome Nance-Sweeney chondrodysplasia OSMED oto-spondylo-megaepiphyseal dysplasia Related Information How are genetic ...

  15. Defining dysplasia in Barrett esophagus.

    Science.gov (United States)

    Robert, Marie E

    2003-01-01

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

  16. Genetics Home Reference: osteoglophonic dysplasia

    Science.gov (United States)

    ... leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to ... and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  17. Genetics Home Reference: metatropic dysplasia

    Science.gov (United States)

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

  18. Genetics Home Reference: Kniest dysplasia

    Science.gov (United States)

    ... disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision ... for This Condition Kniest chondrodystrophy Kniest syndrome Metatropic dwarfism, type II Metatropic dysplasia type II Swiss cheese ...

  19. Genetics Home Reference: anauxetic dysplasia

    Science.gov (United States)

    ... is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range ... in this disorder. People with anauxetic dysplasia have dwarfism with unusually short limbs for their height (disproportionate ...

  20. Genetics Home Reference: campomelic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition campomelic dwarfism campomelic syndrome camptomelic dysplasia Related Information How are ... Robin Syndrome Health Topic: Bone Diseases Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  1. 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.

  2. Focal cortical dysplasia – review

    Science.gov (United States)

    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 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

  3. Pediatric aspects of skeletal dysplasia.

    Science.gov (United States)

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

    2012-10-01

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

  4. Spondylometaphyseal dysplasia with hypercalcemia. [Radiological studies

    Energy Technology Data Exchange (ETDEWEB)

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

    1989-08-01

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

  5. Genetics Home Reference: hypohidrotic ectodermal dysplasia

    Science.gov (United States)

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

  6. Schimke immunoosseous dysplasia: Defining skeletal features

    NARCIS (Netherlands)

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

    2010-01-01

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

  7. Schimke immuno-osseous dysplasia: two cases

    Energy Technology Data Exchange (ETDEWEB)

    Tylki-Szymanska, Anna; Rokicki, Dariusz [Department of Metabolic Diseases, The Children' s Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw (Poland); Pyrkosz, Antoni [Department of Genetics, Silesian Medical Academy, Katowice (Poland); Krajewska-Walasek, Malgorzata [Department of Genetics, The Children' s Memorial Health Institute, Warsaw (Poland); Michalkiewicz, Jacek [Department of Immunology, The Children' s Memorial Health Institute, Warsaw (Poland); Kowalska, Aleksandra [Department of Radiology, The Children' s Memorial Health Institute, Warsaw (Poland)

    2003-03-01

    We report two patients with Schimke immuno-osseous dysplasia (SIOD). SIOD is characterised by growth retardation, renal failure, spondylo-epiphyseal dysplasia, specific phenotype and defective cellular immunity. These two children demonstrated a bone dysplasia with characteristic radiographic appearances. We postulate that SIOD should be considered in all cases of growth failure with an unclassifiable bone dysplasia. Repeated urine tests for proteinuria could be helpful in reaching the correct diagnosis. (orig.)

  8. 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.

  9. The nature of fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Lemmer Johan

    2009-11-01

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

  10. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

    Science.gov (United States)

    McInerney-Leo, Aideen M; Le Goff, Carine; Leo, Paul J; Kenna, Tony J; Keith, Patricia; Harris, Jessica E; Steer, Ruth; Bole-Feysot, Christine; Nitschke, Patrick; Kielty, Cay; Brown, Matthew A; Zankl, Andreas; Duncan, Emma L; Cormier-Daire, Valerie

    2016-07-01

    Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill-Marchesani syndrome. Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. However, not all cases have mutations in these genes. Individuals negative for mutations in known acromelic dysplasia genes underwent whole exome sequencing. A heterozygous missense mutation (exon 14: c.2087C>G: p.Ser696Cys) in latent transforming growth factor β (TGF-β)-binding protein-3 (LTBP3) was identified in a dominant AD family. Two distinct de novo heterozygous LTPB3 mutations were also identified in two unrelated GD individuals who had died in early childhood from respiratory failure-a donor splice site mutation (exon 12 c.1846+5G>A) and a stop-loss mutation (exon 28: c.3912A>T: p.1304*Cysext*12). The constellation of features in these AD and GD cases, including postnatal growth retardation of long bones and lung involvement, is reminiscent of the null ltbp3 mice phenotype. We conclude that LTBP3 is a novel component of the microfibrillar network involved in the acromelic dysplasia spectrum. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  11. Enamel Hypoplasia of Deciduous Canine

    OpenAIRE

    加納, 隆; 平出, 百合子; 舟津, 聡; 峯村, 隆一; 恩田, 千爾; 正木, 岳馬

    1993-01-01

    From observation of frequency and measurement of the lengths and widths of enamel hypoplasia on the maxillary and mandibular deciduous canines, extracted from 50 Indians' skulls, the following results were obtained. 1) Enamel hypoplasia occurred in 15% of the maxillary deciduous canines and 44% of the mandibular deciduous canines. 2) Symmetrical cases of enamel hypoplasia occurred in 8.0% of the maxillary deciduous canins and in 34% of the mandibular deciduous canines. The enamel hypoplasia o...

  12. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

    Warnakulasuriya, S; Reibel, J; Bouquot, J

    2008-01-01

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

  13. [Echodactyly syndrome, ectodermic dysplasia, facial cleft, and EEC syndrome : report on 12 cases (author's transl)].

    Science.gov (United States)

    Psaume, J; Gray, F; Cousteau, C; Trigo, G

    1981-01-01

    Twelve cases of a rare syndrome are reported. Findings included a facial cleft, adactyly of the 2nd and 3rd fingers and 2nd and 3rd toes, and ectodermic dysplasia involving anodontia, hypotrichosis, and albinoid type pigmentation of the skin and the exoskeleton, with clear eyes and chronic conjunctivitis. An interesting finding was that the anodontia affected the permanent teeth only, initially involving the incisors and the second premolars (nine cases out of twelve). Inversely, the deciduous teeth were unaffected, except for the upper first molars in two cases. The canines, usually constantly present, were absent in two out of three cases.

  14. 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.

  15. Misdiagnosis of florid cemento-osseous dysplasia leading to unnecessary root canal treatment: a case report.

    Science.gov (United States)

    Huh, Jong-Ki; Shin, Su-Jung

    2013-08-01

    This case report demonstrates an unnecessary endodontic treatment of teeth with florid cemento-osseous dysplasia (FCOD) due to a misdiagnosis as periapical pathosis and emphasizes the importance of correct diagnosis to avoid unnecessary treatment. A 30-year-old woman was referred to our institution for apicoectomies of the mandibular left canine and both the lateral incisors. The periapical lesions associated with these teeth had failed to resolve after root canal treatment over a 3-year period. Radiographic examinations revealed multiple lesions on the right canine, the second premolar, and both first molars as well as the anterior region of the mandible. Based on clinical, radiographic and histological evaluations, the patient condition was diagnosed as FCOD. The patient has been monitored for 2 years. To avoid unnecessary invasive treatment, accurate diagnosis is essential before treatment is carried out in managing FCOD.

  16. 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.

  17. 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.

  18. Skeletal dysplasia in ancient Egypt.

    Science.gov (United States)

    Kozma, Chahira

    2008-12-01

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

  19. Optic Nerve Decompression for Orbitofrontal Fibrous Dysplasia

    OpenAIRE

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

    2002-01-01

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

  20. Dysplasia in view of the cell cycle

    OpenAIRE

    RG Steinbeck

    2009-01-01

    Dysplasia is linked to altered tissue architecture. The lesion belongs into the diagnostic field of human pathology and is highly relevant for the clinical physician, because it breaks the criteria of hyperplasia and regeneration. Dysplasia is a precancerous disorder leading in all probability to malignant transformation if not treated. However, different descriptions do apply for dysplasia in different human tissues, and conventional pathology cannot arrive at unequivocal stringency. In cont...

  1. 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

  2. Dysplasia in view of the cell cycle

    Directory of Open Access Journals (Sweden)

    RG Steinbeck

    2009-06-01

    Full Text Available Dysplasia is linked to altered tissue architecture. The lesion belongs into the diagnostic field of human pathology and is highly relevant for the clinical physician, because it breaks the criteria of hyperplasia and regeneration. Dysplasia is a precancerous disorder leading in all probability to malignant transformation if not treated. However, different descriptions do apply for dysplasia in different human tissues, and conventional pathology cannot arrive at unequivocal stringency. In contrast to the previous situation, now, dysplasia is defined by a unifying concept, which works upon cell cycle criteria. The decisive element for the proposed definition is unbalanced segregation of chromosomes and persistent genomic asymmetry through telophase, leading to aneuploid interphase nuclei. Progress of dysplasia can be estimated from the frequency of pathologic mitoses that directly measure cellular proliferation. In routine work, progress of dysplasia shall be quantified by frequency increase of aneuploidy in the increasing fraction of proliferating interphase nuclei. Thus, dysplasia is defined not only by aberrations from healthy histological architecture and normal cytological differentiation, but also by violations of the DNA standard from mitotic nuclei. The proposed classification of dysplasia measures the frequency of pathologic mitoses and the degree of genomic alterations in interphase nuclei. Both these criteria discriminate between low-grade and highgrade dysplasia and ascertain the malignant potential of a dysplastic lesion.

  3. Presentation of hypohidrotic ectodermal dysplasia in two siblings

    Directory of Open Access Journals (Sweden)

    Uday Ginjupally

    2015-01-01

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

  4. 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) • ...

  5. Schneckenbecken dysplasia, radiology, and histology

    Energy Technology Data Exchange (ETDEWEB)

    Nikkels, P.G. [Rijksuniversiteit Utrecht (Netherlands). Dept. of Pathology; Stigter, R.H. [Div. of Neonatology and Obstetrics, University Medical Centre Utrecht (Netherlands); Knol, I.E. [Div. of Medical Genetics, University Medical Centre Utrecht (Netherlands); Harten, H.J. van der [Dept. of Pathology, Free University Amsterdam (Netherlands)

    2001-01-01

    To our knowledge this is the first report of Schneckenbecken dysplasia with the development of hydrops early in the second trimester. The radiological findings showed the typical hypoplastic iliac bones with medial extension and very flattened, on lateral view, oval-shaped vertebral bodies and short long bones. The histology showed hypercellular and hypervascular cartilage with chondrocytes with centrally located nucleus. The absence of the lacunar space as described before was also observed in some chondrocytes in our case. This male fetus was the product of consanguineous parents of Mediterranean origin compatible with autosomal recessive inheritance. (orig.)

  6. Vaccines for Canine Leishmaniasis

    Directory of Open Access Journals (Sweden)

    Faeze Foroughi-Parvar

    2014-01-01

    Full Text Available Leishmania infantum is the obligatory intracellular parasite of mammalian macrophages and causes zoonotic visceral leishmaniasis (ZVL. The presence of infected dogs as the main reservoir host of ZVL is regarded as the most important potential risk for human infection. Thus the prevention of canine visceral leishmaniasis (CVL is essential to stop the current increase of the Mediterranean visceral leishmaniasis. Recently considerable advances in achieving protective immunization of dogs and several important attempts for achieving an effective vaccine against CVL lead to attracting the scientists trust in its important role for eradication of ZVL. This paper highlights the recent advances in vaccination against canine visceral leishmaniasis from 2007 until now.

  7. Canine pulmonary angiostrongylosis

    DEFF Research Database (Denmark)

    Koch, Jørgen; Willesen, Jakob Lundgren

    2009-01-01

    Canine pulmonary angiostrongylosis is an emerging snail-borne disease causing verminous pnemonia and coagulopathy in dogs. The parasite is fund in Europe, North and South America and Africa, covering tropical, subtropical and temperate regions. Its distribution has been characterised by isolated ...

  8. Vaccines for canine leishmaniasis

    Directory of Open Access Journals (Sweden)

    Clarisa B. Palatnik-De-Sousa

    2012-04-01

    Full Text Available Leishmaniasis is the third most important vector-borne disease worldwide. Visceral leishmaniasis (VL is a severe and frequently lethal protozoan disease of increasing incidence and severity due to infected human and dog migration, new geographical distribution of the insect due to global-warming, co-infection with immunosuppressive diseases and poverty. The disease is an anthroponosis in India and Central Africa and a canid zoonosis (ZVL in the Americas, the Middle East, Central Asia, China and the Mediterranean. The ZVL epidemic has been controlled by one or more measures including the culling of infected dogs, treatment of human cases and insecticidal treatment of homes and dogs. However, the use of vaccines is considered the most cost-effective control tool for human and canine disease. Since the severity of the disease is related to the generation of T-cell immunosuppression, effective vaccines should be capable of sustaining or enhancing the T-cell immunity. In this review we summarize the clinical and parasitological characteristics of ZVL with special focus on the cellular and humoral canine immune response and review state-of-the-art vaccine development against human and canine visceral leishmaniasis. Experimental vaccination against leishmaniasis has evolved from the practice of leishmanization with living parasites to vaccination with crude lysates, native parasite extracts to recombinant and DNA vaccination. Although more than 30 defined vaccines have been studied in laboratory models no human formulation has been licensed so far; however three second-generation canine vaccines have already been registered. As expected for a zoonotic disease, the recent preventive vaccination of dogs in Brazil has led to a reduction in the incidence of canine and human disease. The recent identification of several Leishmania proteins with T-cell epitopes anticipates development of a multiprotein vaccine that will be capable of protecting both humans

  9. The "pirate sign" in fibrous dysplasia.

    Science.gov (United States)

    Singnurkar, Amit; Rush, Chris

    2006-11-01

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

  10. 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.

  11. Renal infarction complicating fibromuscular dysplasia.

    Science.gov (United States)

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

    2014-01-01

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

  12. Severity grading in radial dysplasia.

    Science.gov (United States)

    Vilkki, S K

    2014-11-01

    A functional scoring method to grade the usefulness and quality of the upper limbs in congenital radial dysplasia is presented. It is based on the author's examinations of 44 arms with congenital deficiency of the radius. The hand (H), wrist (W) and proximal parts (P) of the extremity are each scored from 0 to 10 points for severity. The scoring is expressed similarly to the TNM (tumour, nodes, metastasis) tumour classification, for example as H5W4P2. The maximum severity index is 30 points. A severity grade of mild is between 1 and 8 points, moderate between 9 and 16 points and severe 17 points and over. In the author's series, the grades were mild in eight, moderate in 21 and severe in 15 cases. The functional severity grading should allow better comparison of radially deficient limbs and the results of treatment between groups of patients. © The Author(s) 2014.

  13. 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.

  14. Thanatophoric dysplasia: Antenatal to postmortem

    Directory of Open Access Journals (Sweden)

    Chanabasappa V Chavadi

    2015-01-01

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

  15. 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.

  16. Camptomelic dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Koš Radmila

    2007-01-01

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

  17. 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.)

  18. Hip dysplasia in the skeletally mature patient

    National Research Council Canada - National Science Library

    Goldstein, Rachel Y; Kaye, Ian David; Slover, James; Feldman, David

    2014-01-01

    .... These characteristic changes result in intraarticular pathology leading to hip arthritis. A variety of treatment options exist based on the degree of dysplasia and the amount of concomitant hip arthritis...

  19. Mandibuloacral Dysplasia in An Iranian Girl

    Directory of Open Access Journals (Sweden)

    F. Abbasi

    2006-07-01

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

  20. 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

  1. Bilateral anophthalmia with septo-optic dysplasia

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2010-01-01

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

  2. CNTF induces dose-dependent alterations in retinal morphology in normal and rcd-1 canine retina.

    Science.gov (United States)

    Zeiss, Caroline J; Allore, Heather G; Towle, Virginia; Tao, Weng

    2006-03-01

    Ciliary neurotrophic factor (CNTF) provides morphologic preservation of rods in several animal models of retinitis pigmentosa (RP). However, CNTF may alter photoreceptor morphology and rod photoreceptor differentiation in vitro, as well as affecting normal retinal electrophysiology. In addition, the capacity of CNTF to support other cell types affected secondarily in RP (cones and ganglion cells) is unclear. The purposes of this study were to examine the effects of CNTF upon a canine model of RP, the rod-cone degeneration (rcd-1) dog. Archival tissue from a previous study assessing the capacity of CNTF to rescue photoreceptors in rcd-1 dogs was used. One eye was treated for 7 weeks before being explanted. The contralateral eye was untreated. A total of 23 rcd-1 dogs and seven control dogs (four untreated and three CNTF-treated) were used. Morphometric data describing outer and inner nuclear layer thickness, inner retinal thickness, cones and ganglion cells were collected at nine evenly spaced points along each retina and analysed using a mixed effects model. Immunohistochemistry was performed on a subset of 11 dogs for expression of rhodopsin, human cone arrestin (hCAR) and recoverin. CNTF protected the outer nuclear layer and increased inner retinal thickness in a dose-dependent manner (both were maximal at CNTF doses of 1-6 ng day-1). Significant cone loss or reduction of inner nuclear layer width in rcd-1 did not occur in this model, therefore we were unable to assess the protective effect of CNTF upon these parameters. CNTF did not afford significant ganglion cell protection. CNTF induced morphologic changes in rods and ganglion cells, as well as reducing expression of hCAR and rhodopsin, but not recoverin. The dose of CNTF which provided optimal outer nuclear layer protection also resulted in several other effects, including altered ganglion cell morphology, increased thickness of the entire retina, and reduced expression of some phototransduction proteins

  3. [Canine histoplasmosis in Japan].

    Science.gov (United States)

    Sano, Ayako; Miyaji, Makoto

    2003-01-01

    Histoplasmosis is a fungal infection caused by Histoplasma capsulatum and is distributed a worldwide. Although the disease has been treated as an imported mycosis, some autochthonous human, 1 equine and 4 canine cases suggested that the disease is endemic. Histoplasmosis is classified depending on the variety of causative agent. Histoplasmosis farciminosi known as pseudofarcy, is manifested only in Perissodactyla where it invades lymph nodes and lymph ducts, and is recognized by isolation from horses. Historically, Japan was one of the endemic areas of pseudofarcy before World War II, and more than 20,000 cases were recorded in horses used by the military. Interestingly, Japanese canine histoplasmosis uniformly showed skin ulcers and granulomatous lesions on the skin without pulmonary or gastrointestinal involvement, both of which were very similar to pseudofarcy. It was diagnosed as histoplasmosis by the detection of internal transcribed spacer legions of rRNA gene of H. capsulatum from paraffin embedded tissue samples. Furthermore, the fungal isolate from the human case with no history of going abroad or immigrating was identified as H. capsulatum var. farciminosum by a gene sequence. These facts indicated that pseudofarcy is not only an infectious disease in horses, but also a zoonotic fungal infection. Japanese autochthonous canine histoplasmosis might be a heteroecism of pseudofarcy because of its likeness to the human case, the similarity of clinical manifestations and the historical background at this stage.

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

    Science.gov (United States)

    Groza, Tudor; Hunter, Jane; Zankl, Andreas

    2012-03-26

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

  5. Hip dysplasia in the young adult caused by residual childhood and adolescent-onset dysplasia.

    Science.gov (United States)

    Pun, Stephanie

    2016-12-01

    Hip dysplasia is a treatable developmental disorder that presents early in life but if neglected can lead to chronic disability due to pain, decreased function, and early osteoarthritis. The main causes of hip dysplasia in the young adult are residual childhood developmental dysplasia of the hip (DDH) and adolescent-onset acetabular dysplasia. These two distinct disease processes affect the growing hip during different times of development but result in a similar deformity and pathomechanism of hip degeneration. Routine screening for DDH and counseling regarding risks for acetabular dysplasia in families with a history of early hip osteoarthritis may allow early identification and intervention in these hips with anatomical risk factors for joint degeneration.

  6. Expansive focal cemento-osseous dysplasia.

    Science.gov (United States)

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

    2012-01-01

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

  7. Restoration of missing or misplaced canines.

    Science.gov (United States)

    Bower, C F; Reinhardt, R A

    1985-06-01

    Restorative treatments for canines were discussed to correct three clinical abnormalities: (1) fully erupted permanent canine in the lateral incisor position, (2) missing permanent canines, and (3) partially exposed canines in normal arch position. The primary concerns are the development of esthetics, anterior guidance, and adequate support for fixed restorations.

  8. Developmental dysplasia of the hip

    Directory of Open Access Journals (Sweden)

    Shahryar Noordin

    2010-10-01

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

  9. Cervical spinal monostotic fibrous dysplasia: A case report

    Energy Technology Data Exchange (ETDEWEB)

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

    2013-09-15

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

  10. 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

  11. Etiology and pathogenesis of ectodermal dysplasias.

    Science.gov (United States)

    Itin, Peter H

    2014-10-01

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

  12. 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...

  13. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

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

    2005-01-01

    In a longitudinal case-control study, we followed 81 subjects with dysplasia of the hip and 136 control subjects without dysplasia for ten years assessing radiological evidence of degeneration of the hip at admission and follow-up. There were no cases of subluxation in the group with dysplasia. N...

  14. Fibrous Dysplasia Characterization Using Lacunarity Analysis.

    Science.gov (United States)

    Cordeiro, Mirna S; Backes, André R; Júnior, Antônio F Durighetto; Gonçalves, Elmar H G; de Oliveira, Jefferson X

    2016-02-01

    Fibrous dysplasia (FD) is a developmental anomaly in which the normal medullary space of the affected bone is replaced by fibro-osseous tissue. This condition is typically encountered in adolescents and young adults. It affects the maxillofacial region and it can often cause severe deformity and asymmetry. Therefore, accurate diagnosis is critical to determine the appropriate treatment of each case. In this sense, computed tomography (CT) is a relevant resource among the imaging techniques for correct diagnosis of this condition. Thus, in this paper, we propose to analyze fibrous dysplasia through its texture pattern. To accomplish this task, we propose to use lacunarity analysis, a multiscale method for describing patterns of spatial dispersion. Results indicated lower lacunarity values for fibrous dysplasia in comparison to normal bone samples, an indication that their texture images are more homogeneous, and a high separability between the classes when using principal component analysis (PCA) and decision trees for statistical analysis.

  15. Surgical Treatment of Congenital Mitral Valve Dysplasia.

    Science.gov (United States)

    Vida, Vladimiro L; Carrozzini, Massimiliano; Padalino, Massimo; Milanesi, Ornella; Stellin, Giovanni

    2016-05-01

    Congenital mitral valve (MV) dysplasia is a relatively rare and highly complex cardiac disease. We present our results and illustrate the techniques used to repair these valves. Between 1972 and 2014, 100 consecutive patients underwent surgical repair of congenital MV dysplasia at our institution. Predominant MV regurgitation was present in 53 patients (53%) whereas mitral stenosis was prevalent in 47 (47%). There were five early (5%) and eight late deaths (9%). Actuarial survival was 95%, 94%, and 93% at 5, 10, and 20 years, respectively. Sixteen patients (18%) required reintervention due to subsequent MV dysfunction. Actuarial freedom from reintervention for MV dysfunction was 95%, 92%, and 89% at 5, 10, and 20 years, respectively. The mechanism underlying the valve dysfunction in congenital mitral valve dysplasia is multifactorial and requires the application of a variety of surgical techniques for repair. doi: 10.1111/jocs.12743 (J Card Surg 2016;31:352-356). © 2016 Wiley Periodicals, Inc.

  16. Dysplasia epiphysealis hemimelica: A case report

    Directory of Open Access Journals (Sweden)

    Jovanović Dalibor V.

    2014-01-01

    Full Text Available Introduction. Dysplasia epiphysealis hemimelica, also known as Trevor’s disease, is an extremely rare skeletal developmental disorder of unknown etiology, characterized by an osteocartilaginous outgrowth of one or more epiphyses or of a tarsal bone during childhood. Case report. We presented a sporadic case of dysplasia epiphysealis hemimelica developed in the talus. A 6- year-old boy complained of swelling of his right ankle joint, with painful and reduced movements. Radiographies suggested excessive overgrowth of the dorsomedial aspect of the talus. The tumor was surgically excised and the gross and histological findings were consistent with those of osteochondroma. Conclusion. Dysplasia epiphysealis hemimelica is diagnosed by clinical, radiographic and histopathological examination. Early diagnosis is important for the condition to be treated before the deformity becomes disabling.

  17. Canine mammary gland tumors.

    Science.gov (United States)

    Sorenmo, Karin

    2003-05-01

    The National Consensus Group recommends that all women with tumors larger than 1 cm be offered chemotherapy regardless of tumor histology of lymph node status. This recommendation is to ensure that everyone at risk for failing, even though the risk may be low in women with relatively small tumors and favorable histology, has a choice and receives the benefit of adjuvant chemotherapy. This type of treatment recommendation may also be made in dogs based on recognized, well-accepted prognostic factors such as tumor size, stage, type, and histologic differentiation. Based on the limited clinical information available in veterinary medicine, the drugs that are effective in human breast cancer, such as cyclophosphamide, 5-fluorouracil, and doxorubicin, may also have a role in the treatment of malignant mammary gland tumors in dogs. Randomized prospective studies are needed, however, to evaluate the efficacy of chemotherapy in dogs with high-risk mammary gland tumors and to determine which drugs and protocols are the most efficacious. Until such studies are performed, the treatment of canine mammary gland tumors will be based on the individual oncologist's understanding of tumor biology, experience, interpretation of the available studies, and a little bit of gut-feeling. Table 2 is a proposal for treatment guidelines for malignant canine mammary gland tumors according to established prognostic factors, results from published veterinary studies, and current recommendations for breast cancer treatment in women.

  18. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Directory of Open Access Journals (Sweden)

    D.J. O'Rourke

    2014-01-01

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

  19. Cleido cranial dysplasia: report of a family.

    Science.gov (United States)

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

    2004-12-01

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

  20. 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.).

  1. Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management

    Directory of Open Access Journals (Sweden)

    Serhat Köseoğlu

    2012-03-01

    Full Text Available Cleidocranial dysplasia (CCD is an autosomal dominantskeletal dysplasia characterised by abnormal clavicles,patent sutures and fontanelles, supernumerary teeth,short stature, and a variety of other skeletal change. Cleidocranialdysplasia is caused by mutation in the geneon 6p21 encoding transcription factor CBFA1, i.e. runtrelatedtranscription factor 2 (RUNX2. Individuals withCCD should be followed by either a team of specialist orby individual specialist familiar with the problems that canbe associated with this condition. J Clin Exp Invest 2012;3(1: 133-136

  2. Occipital projections in the skeletal dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Takamine, Yuji; Field, Fiona M. [International Skeletal Dysplasia Registry, Department of Pediatrics and the Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA (United States); Lachman, Ralph S. [International Skeletal Dysplasia Registry, Department of Pediatrics and the Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA (United States); Department of Radiological Sciences and Pediatrics, David Geffen School of Medicine, Los Angeles, CA (United States); Rimoin, David L. [International Skeletal Dysplasia Registry, Department of Pediatrics and the Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA (United States); Departments of Pediatrics, Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA (United States)

    2004-07-01

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

  3. [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.

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

    Science.gov (United States)

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

    1991-02-01

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

  5. Long-term genetic selection reduced prevalence of hip and elbow dysplasia in 60 dog breeds

    Science.gov (United States)

    Keller, G. G.; Famula, T. R.

    2017-01-01

    Canine hip dysplasia (CHD) and elbow dysplasia (ED) impact the health and welfare of all dogs. The first formally organized assessment scheme to improve canine health centered on reducing the prevalence of these orthopedic disorders. Phenotypic screening of joint conformation remains the currently available strategy for breeders to make selection decisions. The present study evaluated the efficacy of employing phenotypic selection on breed improvement of hips and elbows using the Orthopedic Foundation for Animals complete database spanning the 1970–2015 time period. Sixty breeds having more than 1000 unique hip evaluations and 500 elbow evaluations (1,056,852 and 275,129 hip and elbow records, respectively) were interrogated to derive phenotypic improvement, sex and age at time of assessment effects, correlation between the two joints, heritability estimates, estimated breeding values (EBV), and effectiveness of maternal/paternal selection. The data demonstrated that there has been overall improvement in hip and elbow conformation with a reduction in EBV for disease liability, although the breeds differed in the magnitude of the response to selection. Heritabilities also differed substantially across the breeds as did the correlation of the joints; in the absence of a universal association of these differences with breed size, popularity, or participation in screening, it appears that the breeds themselves vary in genetic control. There was subtle, though again breed specific, impact of sex and older ages on CHD and ED. There was greater paternal impact on a reduction of CHD. In the absence of direct genetic tests for either of these two diseases, phenotypic selection has proven to be effective. Furthermore, the data underscore that selection schemes must be breed specific and that it is likely the genetic profiles will be unique across the breeds for these two conditions. Despite the advances achieved with phenotypic selection, incorporation of EBVs into

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

    Directory of Open Access Journals (Sweden)

    Groza Tudor

    2012-03-01

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

  7. Root Length and Anatomy of Impacted Maxillary Canines in Patients with Unilateral Maxillary Canine Impaction

    Directory of Open Access Journals (Sweden)

    Mostfa Shahabi

    2017-09-01

    Full Text Available Introduction: Canine impaction is a common occurrence. In this study, we sought to investigate the root anatomy and length of impacted canines and lateral incisor adjacent to impacted maxillary canine. Materials and Methods: In this retrospective study, three-dimensional tomographic imaging was performed on 26 patients with unilateral maxillary canine impaction. In this study, we evaluated root length and anatomy of impacted canines, in terms of resorption intensity and curvature, with Planmeca Romexis Viewer 4.0. Furthermore, crown shape as well as root length and anatomy of the lateral incisors adjacent to impacted canines were investigated and compared with the other side on the dental arch, where canine eruption was normal. Results: Root length of impacted canines was significantly lower than that of normal canines (P=0.011. There were no significant differences between root length of lateral incisors adjacent to impacted canines and root length of lateral incisors adjacent to normal canines (P=0.221. Moreover, the resorption intensity of the adjacent lateral incisors was higher than that of the impacted canines. No significant differences were noted in root resorption intensity between the lateral incisors adjacent to the imacted canines and the lateral incisors adjacent to normal canines (P=0.36. In addition, resorption intensity was significantly higher in impacted canines than in normal canines (P=0.024. Root anatomy of impacted canines was not significantly different from that of normal canines (P=0.055. The crown shape of the lateral incisors adjacent to impacted canines was not significantly different from that of the lateral incisors adjacent to normal canines (P=0.052. Conclusion: Impaction can probably affect root length and canine resorption severity. However, root and crown shape of lateral incisors cannot always be associated with canine impaction.

  8. Phenotypic and genetic evaluation of elbow dysplasia in Dutch Labrador Retrievers, Golden Retrievers, and Bernese Mountain dogs.

    Science.gov (United States)

    Lavrijsen, I C M; Heuven, H C M; Voorhout, G; Meij, B P; Theyse, L F H; Leegwater, P A J; Hazewinkel, H A W

    2012-08-01

    Canine elbow dysplasia encompasses four developmental diseases: ununited anconeal process, osteochondrosis of the medial part of the humeral condyle, fragmented medial coronoid process (FCP), and incongruity of the elbow joint. Four radiographic views per joint were used to evaluate 2693 Labrador Retrievers (LRs), 1213 Golden Retrievers (GRs), and 974 Bernese Mountain Dogs (BMDs) for the presence of elbow dysplasia between 2002 and 2009 in the Netherlands. The views were also graded for signs of osteoarthritis and sclerosis. FCP was diagnosed most frequently in LRs, GRs and BMDs, with an incidence of 6%, 5%, and 15%, and a heritability of 0.17, 0.24, and 0.06, respectively. Heritabilities were estimated using a sire model and all available ancestors. Sclerosis at the base of the medial coronoid process was the radiographic sign most strongly correlated with FCP (r=0.95, 0.92, and 0.95 in LRs, GRs and BMDs, respectively). The sex of the dog was significantly correlated with the presence of osteoarthritis in LRs, but not in GRs and BMDs. Male LRs were 1.7-fold more frequently, but not more severely, affected by osteoarthritis than female dogs. Age at radiographic examination was significantly associated with osteoarthritis in all three breeds. The heritability estimates in Retrievers were high enough to warrant including FCP findings in the breeding policy, but until the biomechanical and genetic background of elbow dysplasia are better understood, correct phenotyping with a sensitive technique is essential. Copyright © 2012 Elsevier Ltd. All rights reserved.

  9. [Relationship between congenital heart disease and bronchial dysplasia].

    Science.gov (United States)

    Zeng, Shuang-Lin; Li, Ya-Jun; Huang, Ting; Tan, Li-Hua; Mei, Xi-Long; Sun, Jian-Ning

    2011-11-01

    To study the relationship of the incidence of bronchial dysplasia (bronchial anomalous origin and bronchial stenosis) with congenital heart disease. A total of 185 children with congenital heart disease or bronchial dysplasia were enrolled. Bronchial dysplasia was identified by the 64-MSCT conventional scanning or thin slice scanning with three-dimensional reconstruction. Forty-five children (25.3%) had coexisting bronchial dysplasia and congenital heart disease. The incidence rate of bronchial dysplasia in children with congenital heart disease associated with ventricular septal defect was higher than in those without ventricular septal defect (33.7% vs 15.0%; Pdysplasia between the children with congenital heart disease who had a large vascular malformation and who did not. Bronchial dysplasia often occurs in children with congenital heart disease. It is necessary to perform a tracheobronchial CT scanning with three-dimensional reconstruction to identify tracheobronchial dysplasia in children with congenital heart disease, especially associated with ventricular septal defect.

  10. Optic nerve decompression for orbitofrontal fibrous dysplasia.

    Science.gov (United States)

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

    2002-08-01

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

  11. Prophylactic intramedullary nailing in monostotic fibrous dysplasia.

    Science.gov (United States)

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

    2008-06-01

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

  12. The other hip in unilateral hip dysplasia

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Rømer, Lone; Søballe, Kjeld

    2006-01-01

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

  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. Screening for Developmental Dysplasia of the Hip

    NARCIS (Netherlands)

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

    1998-01-01

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

  15. Craniofacial fibrous dysplasia: A 10-case series.

    Science.gov (United States)

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

    2017-09-01

    Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Fibrous dysplasia may be associated with café-au-lait skin macules and endocrinopathy in McCune-Albright syndrome, or with myxoma in Mazabraud's syndrome. We report ten cases of patients followed up for craniofacial fibrous dysplasia in our center between 2010 and 2015. Mean age was 43 years (range, 10-72 years). Clinical symptoms comprised headache (n=3) and sensorineural disorder: recurrent anterior uveitis (n=1), visual acuity loss, epiphora and vestibular syndrome (n=1), and hearing loss (n=1). All cases were monostotic. The sphenoid bone was most commonly involved (n=5), followed by the ethmoid (n=1), frontal (n=1), fronto-ethmoid (n=1), temporal (n=1) and fronto-ethmoido-sphenoid (n=1) bones. Five patients were treated with intravenous pamidronate, a bisphosphonate: evolution was favorable for 3 of them at 1-6 months after treatment initiation, with resolution of headache or vestibular syndrome; the other 2 patients were stable. Two patients were operated on. Diagnosis of craniofacial fibrous dysplasia should be considered in case of headache, neuralgia, sensory disorder, functional disorder or infectious ENT complications. A medico-surgical approach is useful for these patients. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  16. Long-term effectiveness of canine-to-canine bonded flexible spiral wire lingual retainers

    NARCIS (Netherlands)

    Renkema, Anne-Marie; Renkema, Alianne; Bronkhorst, Ewald; Katsaros, Christos

    2011-01-01

    Introduction: The flexible spiral wire (FSW) canine-to-canine lingual retainer bonded to all 6 anterior teeth is a frequently used type of mandibular fixed retainer. This study aimed to assess the long-term effectiveness of FSW canine-to-canine lingual retainers in maintaining the alignment of the m

  17. 9 CFR 113.305 - Canine Hepatitis and Canine Adenovirus Type 2 Vaccine.

    Science.gov (United States)

    2010-01-01

    ... Type 2 Vaccine. 113.305 Section 113.305 Animals and Animal Products ANIMAL AND PLANT HEALTH INSPECTION... STANDARD REQUIREMENTS Live Virus Vaccines § 113.305 Canine Hepatitis and Canine Adenovirus Type 2 Vaccine. Canine Hepatitis Vaccine and Canine Adenovirus Type 2 Vaccine shall be prepared from virus-bearing...

  18. Long-term effectiveness of canine-to-canine bonded flexible spiral wire lingual retainers

    NARCIS (Netherlands)

    Renkema, A.M.; Bronkhorst, E.M.; Katsaros, C.

    2011-01-01

    INTRODUCTION: The flexible spiral wire (FSW) canine-to-canine lingual retainer bonded to all 6 anterior teeth is a frequently used type of mandibular fixed retainer. This study aimed to assess the long-term effectiveness of FSW canine-to-canine lingual retainers in maintaining the alignment of the m

  19. Characterization and therapeutic application of canine adipose mesenchymal stem cells to treat elbow osteoarthritis.

    Science.gov (United States)

    Kriston-Pál, Éva; Czibula, Ágnes; Gyuris, Zoltán; Balka, Gyula; Seregi, Antal; Sükösd, Farkas; Süth, Miklós; Kiss-Tóth, Endre; Haracska, Lajos; Uher, Ferenc; Monostori, Éva

    2017-01-01

    Visceral adipose tissue (AT) obtained from surgical waste during routine ovariectomies was used as a source for isolating canine mesenchymal stem cells (MSCs). As determined by cytofluorimetry, passage 2 cells expressed MSC markers CD44 and CD90 and were negative for lineage-specific markers CD34 and CD45. The cells differentiated toward osteogenic, adipogenic, and chondrogenic directions. With therapeutic aims, 30 dogs (39 joints) suffering from elbow dysplasia (ED) and osteoarthritis (OA) were intra-articularly transplanted with allogeneic MSCs suspended in 0.5% hyaluronic acid (HA). A highly significant improvement was achieved without any medication as demonstrated by the degree of lameness during the follow-up period of 1 y. Control arthroscopy of 1 transplanted dog indicated that the cartilage had regenerated. Histological analysis of the cartilage biopsy confirmed that the regenerated cartilage was of hyaline type. These results demonstrate that transplantation of allogeneic adipose tissue-derived mesenchymal stem cells (AT-MSCs) is a novel, noninvasive, and highly effective therapeutic tool in treating canine elbow dysplasia.

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

    Directory of Open Access Journals (Sweden)

    Karel Geboes

    1999-01-01

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

  1. Activity Level and Severity of Dysplasia Predict Age at Bernese Periacetabular Osteotomy for Symptomatic Hip Dysplasia.

    Science.gov (United States)

    Matheney, Travis; Zaltz, Ira; Kim, Young-Jo; Schoenecker, Perry; Millis, Michael; Podeszwa, David; Zurakowski, David; Beaulé, Paul; Clohisy, John

    2016-04-20

    The age when patients present for treatment of symptomatic developmental dysplasia of the hip with periacetabular osteotomy (PAO) varies widely. Modifiable factors influencing age at surgery include preexisting activity level and body mass index (BMI). The severity of the hip dysplasia has also been implicated as a factor influencing the age at arthritis onset. The purpose of this study was to determine whether activity level, BMI, and severity of dysplasia are independent predictors of age of presentation for PAO. A retrospective, institutional review board-approved review of prospectively collected data from a multicenter study group identified 708 PAOs performed for developmental dysplasia of the hip. Demographic factors that were considered in the analysis included age at surgery, BMI, history of hip disorder or treatment, and duration of symptoms. The severity of the developmental dysplasia of the hip was assessed by radiographic measurement of the lateral and anterior center-edge angles and acetabular inclination. Activity level was assessed with the University of California, Los Angeles (UCLA) activity score. Spearman correlations and t tests were used for univariable analysis. Multivariable regression analysis using generalized estimating equations was applied to determine independent predictors of age at PAO. Univariable analysis indicated that age at presentation for treatment of PAO correlated with the lateral and anterior center-edge angles (p < 0.001), UCLA score (p < 0.001), and BMI (p = 0.04). Since the lateral and anterior center-edge angles were similarly correlated (Spearman rho = 0.61, p < 0.001), the lateral center-edge angle alone was used to classify the severity of the developmental dysplasia of the hip. Multivariable linear regression confirmed that a high UCLA score and severe hip dysplasia were independent predictors of age at PAO (p < 0.001). A high activity level and severe dysplasia lead to the development of symptoms and presentation

  2. Atypical parakeratosis: a marker of dysplasia?

    Science.gov (United States)

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

    1996-11-01

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

  3. 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.

  4. Arrhythmogenic right ventricular dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Tessa Negrín Valdés

    2015-10-01

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

  5. Congenital osteofibrous dysplasia Campanacci: spontaneous postbioptic regression.

    Science.gov (United States)

    Jobke, Björn; Bohndorf, Klaus; Vieth, Volker; Werner, Mathias

    2014-04-01

    Osteofibrous dysplasia Campanacci is a rare benign bone tumor most frequently observed in young childhood. The exclusive localization in the tibia is very characteristic. The incidence of congenital primary bone tumors is an absolute rarity. We report a case of a newborn with a histologically proven osteofibrous dysplasia Campanacci at the tibia presenting a regular radiographic follow-up. After a small open biopsy and spontaneous minor fracture, the lesion rapidly remodeled within 1½ months and almost completely regressed with restutio ad integrum. Surgical intervention in this tumor entity at childhood age has been shown to have a high recurrence rate but due to lack of experience with newborns, guidelines do not exist. We analyze the radiologic and histologic differential diagnosis of juvenile adamantinoma and emphasize that congenital peripheral bone tumors should be treated conservatively when malignancy is excluded.

  6. Cardiac sarcoidosis mimicking right ventricular dysplasia.

    Science.gov (United States)

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

    2003-02-01

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

  7. 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...

  8. Distinctive skeletal dysplasia in Cockayne syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    1986-03-01

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

  9. Fibrous dysplasia of bone causing unilateral proptosis

    Directory of Open Access Journals (Sweden)

    Reshma Ramakrishnan

    2015-01-01

    Full Text Available Fibrous dysplasia (FD is a slow growing benign noninherited disorder in which normal bones are replaced by fibrous tissue and immature woven bones. Here we report a case of 30-year-old female who presented with unilateral proptosis and lagophthalmos without any visual loss; was diagnosed with polyostotic FD. Patient was taken up for surgery. Osseous reconturing was done by shaving of involved facial bones. Postoperatively, there was a decrease in proptosis and lagophthalmos.

  10. 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.)

  11. Fetal MR imaging of Kniest dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-03-15

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

  12. Congenital Ocular Dystopia from Orbitofrontal Bone Dysplasia.

    Science.gov (United States)

    Swanson, Jordan W; Bartlett, Scott P

    2016-01-01

    Several patients with ocular dystopia and craniofacial differences have been found to have orbital dysplasia and a frontal bone defect. This deformity is characteristically different from differential diagnoses of encephalocele, sphenoid dysplasia, craniofacial dysostoses, or atypical clefting. The authors retrospectively reviewed the craniofacial registries of two pediatric centers for patients presenting with ocular dystopia or orbitofrontal anomalies between 2000 and 2014. The features and treatment of these patients were analyzed. Four patients with congenital orbitofrontal bone dysplasia were identified, three with unilateral and one with bilateral frontal bone defects. Clinical signs of hypoglobus and vertical ocular dystopia of an average of 5.0 mm on the affected side were noted shortly after birth. The transversely oriented bony defect had an average surface area of 3.9 cm in unilateral cases and 10.7 cm in bilateral cases. Patients showed a characteristic orbital vertical elongation with an average orbital height-to-width ratio of 1.30-in excess of the average normal 1.14 by 14 percent-and inferior rim displacement. Cranial contour demonstrated frontal bossing and borderline dolichocephaly. Fronto-orbital reconstruction was performed in three patients, using cranial bone grafting to obliterate the orbital roof defect and elevate the orbital floor, which was successful in reducing ocular dystopia and preserving vision in each patient. One patient followed for 11 years postoperatively has a durable result with no surgical revision. Orbitofrontal bone dysplasia has not been previously reported, and includes a frontal bone defect and ocular dystopia. Single-stage fronto-orbital reconstruction appears to adequately correct it. Therapeutic, IV.

  13. Lethality in Desbuquois dysplasia: three new cases

    Energy Technology Data Exchange (ETDEWEB)

    Hall, B.D. [Department of Pediatrics, University of Kentucky College of Medicine, Lexington (United States)

    2001-01-01

    Three new cases of Desbuquois syndrome in two brothers and a sporadic male, all of whom died in early infancy, are presented to emphasize the high rate (33 %) of lethality in this variable, but serious skeletal dysplasia. Including the three presented patients and 10 of the 36 cases in the literature who died, most did so between birth and 7 months and from respiratory-related problems. Neonatal and infancy survivors should be monitored closely, particularly relative to their pulmonary status. (orig.)

  14. Monostotic fibrous dysplasia with Raynaud's phenomenon.

    Science.gov (United States)

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

    2015-01-01

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

  15. Podoplanin Expression in Canine Melanoma.

    Science.gov (United States)

    Ogasawara, Satoshi; Honma, Ryusuke; Kaneko, Mika K; Fujii, Yuki; Kagawa, Yumiko; Konnai, Satoru; Kato, Yukinari

    2016-12-01

    A type I transmembrane protein, podoplanin (PDPN), is expressed in several normal cells such as lymphatic endothelial cells or pulmonary type I alveolar cells. We recently demonstrated that anticanine PDPN monoclonal antibody (mAb), PMab-38, recognizes canine PDPN of squamous cell carcinomas, but does not react with lymphatic endothelial cells. Herein, we investigated whether PMab-38 reacts with canine melanoma. PMab-38 reacted with 90% of melanoma cells (9/10 cases) using immunohistochemistry. Of interest, PMab-38 stained the lymphatic endothelial cells and cancer-associated fibroblasts in melanoma tissues, although it did not stain any lymphatic endothelial cells in normal tissues. PMab-38 could be useful for uncovering the function of PDPN in canine melanomas.

  16. Sertl shelf arthroplasty (BOP procedure) in the treatment of canine hip dysplasia.

    Science.gov (United States)

    Jensen, D J; Sertl, G O

    1992-05-01

    The BOP/Sertl shelf arthroplasty procedure is not difficult or lengthy. It uses minimal metallic fixation. It is quite physiological with minimal morbidity because there is no change in the bony anatomic pelvis except to create an extension of the lateral rim of the acetabulum. The animal is able to walk the day after surgery. The procedure can be performed bilaterally the same day, thus creating good bony stability and decreasing stretching of the joint capsule, which in turn prevents further subluxation and pain in the hip joint. The aim of this procedure is to return the animal to a satisfactory lifestyle through an effective but less complicated surgical procedure as compared to other available options. This procedure is straightforward and can be done by a surgeon who is familiar with orthopedic surgical techniques and has been trained in this procedure. To date, more than 150 veterinarians have had hands-on training to perform this operation. We are not claiming that this procedure is a cure for CHD; rather, it is a procedure that dramatically slows down the progress of this malady and allows the dog to lead a more normal lifestyle and avoids euthanasia. After 51 months, our study of 200 hips has had a success rate of 99% on the animals available for follow-up as evidenced by returning those animals to a satisfactory lifestyle with stable hips.

  17. Campomelic dysplasia: a rare cause of congenital spinal deformity.

    Science.gov (United States)

    Dahdaleh, Nader S; Albert, Gregory W; Hasan, David M

    2010-05-01

    Campomelic dysplasia is a rare autosomal dominant syndrome that often results in congenital spinal deformity. As a result of improvements in respiratory care, some patients survive into childhood, requiring treatment of their spinal deformities. We present a neonate who was diagnosed with campomelic dysplasia, resulting in severe cervical and thoracic kyphoscoliosis and respiratory compromise. A review of the literature and reported treatment options are discussed. Campomelic dysplasia is a rare cause of congenital spinal deformity; however, intervention may be appropriate in certain patients.

  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. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

    Energy Technology Data Exchange (ETDEWEB)

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

    2002-02-01

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

  20. A Case Report of Camptomelic Dysplasia

    Directory of Open Access Journals (Sweden)

    Zia Islami

    2011-09-01

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

  1. Canine and feline parasitic zoonoses in China.

    Science.gov (United States)

    Chen, Jia; Xu, Min-Jun; Zhou, Dong-Hui; Song, Hui-Qun; Wang, Chun-Ren; Zhu, Xing-Quan

    2012-07-28

    Canine and feline parasitic zoonoses have not been given high priority in China, although the role of companion animals as reservoirs for zoonotic parasitic diseases has been recognized worldwide. With an increasing number of dogs and cats under unregulated conditions in China, the canine and feline parasitic zoonoses are showing a trend towards being gradually uncontrolled. Currently, canine and feline parasitic zoonoses threaten human health, and cause death and serious diseases in China. This article comprehensively reviews the current status of major canine and feline parasitic zoonoses in mainland China, discusses the risks dogs and cats pose with regard to zoonotic transmission of canine and feline parasites, and proposes control strategies and measures.

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

    Directory of Open Access Journals (Sweden)

    Maria Francis Yuvaraj

    2017-01-01

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

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

    Science.gov (United States)

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

    2010-10-01

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

  4. Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia.

    Science.gov (United States)

    Bellini, C; Villa, G; Sambuceti, G; Traggiai, C; Campisi, C; Bellini, T; Morcaldi, G; Massocco, D; Bonioli, E; Boccardo, F

    2014-03-01

    We performed lymphoscintigraphy on 31 patients (newborns and children) affected by congenital lymphatic dysplasia according to our previously published protocol. Congenital lymphatic dysplasia may present with various degrees of clinical severity, ranging from nonimmune hydrops fetalis with visceral effusions to lymphedema alone. We recommend that lymphoscintigraphy should be strongly considered in all patients with signs of lymphatic dysplasia, including those with minimal and initial signs of lymphatic impairment, in order to obtain a very early diagnosis and to start treatment. Lymphoscintigraphy is safe and useful in the diagnosis of lymphatic dysplasia in the newborn and children. Moreover, it is well tolerated by patients and well accepted by their parents.

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

    Directory of Open Access Journals (Sweden)

    Mahajan Vikram K

    2003-01-01

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

  6. Several early interventions for ectopic maxillary canines.

    Directory of Open Access Journals (Sweden)

    Carlos Astorga

    2012-07-01

    Full Text Available Maxillary canine impactation is often encountered in orthodontic clinical practice and the aetiology is associated to genetic factors as well as local space factors. If preventive treatment is not started in ectopic maxillary canines, some possible consequences may occur, such as resorption of the roots of the neighboring permanent teeth, cysts, ankylosis and expensive surgical and orthodontic treatment. The aim of this review was to preset several early treatment modalities for ectopic maxillary canines based on recent scientific evidence. Four are the most important: Only extractions intervention, extraction of deciduous canines with cervical pull headgear, active intervention in late mixed dentition and active intervention in early mixed dentition. These different modalities showed a greater increasing the rate of normal eruption of ectopic canines ( 80-97%. The extraction of primary canine alone is still an effective method to prevent canine impactation, whose success rate would be increased if some other method interceptive is added.

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

    Science.gov (United States)

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

    2013-01-01

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

  8. Surgical innovations in canine gonadectomy

    NARCIS (Netherlands)

    Van Goethem, Bart

    2016-01-01

    In this thesis some recent technological developments in human surgery are evaluated for their potential use in veterinary medicine by introducing them as surgical innovations for canine gonadectomy. Barbed sutures achieve wound apposition without surgical knot tying and thus avoid knot-associated n

  9. Prognostic markers of canine pyometra

    OpenAIRE

    M.C. Sant'Anna; Giordano,L.G.P.; Flaiban,K.K.M.C.; E.E. Muller; M.I.M. Martins

    2014-01-01

    The pyometra is a disease that affects middle age and elderly female dogs during diestrus. Hormonal, microbiological, biochemical and hematological aspects are well described. However, few studies have evaluated the role of each in the prognosis of canine pyometra. The aim of this study was to identify markers associated with clinical worsening of dogs with pyometra. We prospectively evaluated 80 dogs with pyometra tre...

  10. Surgical innovations in canine gonadectomy

    NARCIS (Netherlands)

    Van Goethem, Bart

    2016-01-01

    In this thesis some recent technological developments in human surgery are evaluated for their potential use in veterinary medicine by introducing them as surgical innovations for canine gonadectomy. Barbed sutures achieve wound apposition without surgical knot tying and thus avoid knot-associated n

  11. A Contemporary Definition of Hip Dysplasia and Structural Instability: Toward a Comprehensive Classification for Acetabular Dysplasia.

    Science.gov (United States)

    Wilkin, Geoffrey P; Ibrahim, Mazen M; Smit, Kevin M; Beaulé, Paul E

    2017-09-01

    Hip dysplasia has long been known to be a risk factor for pain and degenerative changes in the hip joint. The diagnosis of dysplasia has historically been based on assessments of acetabular anatomy on the anteroposterior pelvic radiograph, most commonly the lateral center-edge angle. Recent advances in imaging of the dysplastic hip with computerized tomography scans have demonstrated that hip dysplasia is in fact a 3-dimensional (D) deformity of the acetabulum and that multiple patterns of hip instability exist that may not be completely assessed on 2D imaging. A more thorough understanding of acetabular anatomy permits an evolution away from vague terms such as "borderline dysplasia." A 3D assessment of the acetabulum and the resultant patterns of instability may be more appropriate since this would allow more accurate treatment to correct the structural instability with acetabular reorientation. With this information, we propose a diagnostic framework that groups symptomatic dysplastic hips into one of 3 categories based on the primary direction of instability: (1) anterior, (2) posterior, and (3) global. This framework may aid the clinician in developing a differential diagnosis for the assessment of hip pain and suspected instability, and for planning an appropriate surgical management. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Patient's Guide to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

    Science.gov (United States)

    ... Page Patient’s Guide to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Past to Present Crystal Tichnell , Cynthia A. James , ... Info & Metrics eLetters Introduction Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited progressive disease of ...

  13. The role of the acetabular labrum in hip dysplasia

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  14. 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.

  15. Cleidocranial dysplasia: Report of 4 cases and review

    Directory of Open Access Journals (Sweden)

    Virender Gombra

    2008-01-01

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

  16. Fibrous dysplasia. Clinical review and therapeutic management.

    Science.gov (United States)

    Florez, Helena; Peris, Pilar; Guañabens, Núria

    2016-12-16

    Fibrous dysplasia is a skeletal disorder that is associated with a wide spectrum of clinical manifestations, including localized asymptomatic forms and extensive severe forms with severe bone deformities and endocrinological alterations, depending on age, location, extent and associated processes. Although the treatment of choice is based on bisphosphonates, the therapeutic efficacy of these agents in the control of disease activity remains uncertain. This article reviews the current data available on the treatment of this disease as well as the preliminary data on new therapeutic approaches. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  17. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

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

    1988-01-01

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

  18. 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.

  19. Tibia Vara due to Focal Fibrocartilaginous Dysplasia

    Directory of Open Access Journals (Sweden)

    A Tavakoli

    2004-06-01

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

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

    Science.gov (United States)

    Fendel, H

    1976-07-01

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

  1. 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.)

  2. Maxillary canine-to-maxillary incisor transposition.

    Science.gov (United States)

    Lin, Yng-Tzer J

    2013-01-01

    Dental transposition is the positional interchange of two adjacent teeth. Canine transpositions are usually accompanied by other dental anomalies, such as: impaction of the incisors; missing teeth; peg-shaped lateral incisors; severe rotation or malposition of adjacent teeth; dilacerations; and malformations. Local pathologic processes, such as tumors, cysts, retained primary canines, and supernumerary teeth, might be responsible for canine transposition. The purpose of this paper was to present a rare case of maxillary canine-to-maxillary incisor transposition in an 8-year-old girl. The patient presented with noneruption of the permanent maxillary left central incisor, and a radiographic examination revealed an impacted dilacerated incisor. The central incisor was extracted because the root was severely dilacerated. At the 3-year follow-up, an oral examination revealed that the canine had transposed to the extraction site. Through orthodontic traction, combined with reshaping of the tooth, the transposed canine was successfully positioned into the incisor position.

  3. Canine and feline parasitic zoonoses in China

    OpenAIRE

    2012-01-01

    Abstract Canine and feline parasitic zoonoses have not been given high priority in China, although the role of companion animals as reservoirs for zoonotic parasitic diseases has been recognized worldwide. With an increasing number of dogs and cats under unregulated conditions in China, the canine and feline parasitic zoonoses are showing a trend towards being gradually uncontrolled. Currently, canine and feline parasitic zoonoses threaten human health, and cause death and serious diseases in...

  4. A Case of Extensive polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2000-06-15

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

  5. An extremely rare case: osteosclerotic metaphyseal dysplasia.

    Science.gov (United States)

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

    2013-01-01

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

  6. Hemispheric dysplasia and hemimegalencephaly: imaging definitions.

    Science.gov (United States)

    Santos, Antonio Carlos; Escorsi-Rosset, Sara; Simao, Gustavo N; Terra, Vera C; Velasco, Tonicarlo; Neder, Luciano; Sakamoto, Americo C; Machado, Helio R

    2014-11-01

    Hemispheric dysplasia (HD) and hemimegalencephaly (HME) are both brain malformations with early clinical manifestation including developmental delay and intractable epilepsy. Sometimes the differentiation of these conditions is not simple. HME is an anomaly of cortical development caused by a combination of neural proliferation and cell migration dysfunction, showing lobar or hemispheric enlargement. On the other hand, HD shows no brain hypertrophy, and even brain atrophy, eventually. To compare both conditions, we reviewed clinical, MRI, and histopathology of 23 patients with developmental delay and refractory epilepsy treated with hemispheric surgery. Histologically, both groups presented polymicrogyria, focal cortical dysplasia, gray matter (GM) heterotopia, pachygyria, and agyria. The white matter (WM) showed different degrees of gliosis and myelin impairment. Even though with no specificity in histopathology, the degree of lesion was more impressive on HME. The combination of WM dysmyelination and hypertrophy leads to the so called hamartomatous appearing. Although not all HME showed brain enlargement and some HD might show no size changes or atrophy, the size of affected hemisphere and the hamartomatous appearance of the WM were the more relevant signs to differentiate both conditions. Brain MRI was the best diagnostic tolls because it allowed together high contrast resolution, whole brain coverage and spatial distribution analysis. HD and HMD showed brain asymmetry tendency, but in opposite directions. The size of affected hemisphere and the hamartomatous appearance of the WM were the more relevant signs to differentiate both conditions.

  7. 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.

  8. A Case of Placental Mesenchymal Dysplasia

    Directory of Open Access Journals (Sweden)

    Shigeki Taga

    2013-01-01

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

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

    Science.gov (United States)

    Serra, Stefano; Chetty, Runjan

    2014-10-01

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

  10. Sewage surveillance reveals the presence of canine GVII norovirus and canine astrovirus in Uruguay.

    Science.gov (United States)

    Lizasoain, A; Tort, L F L; García, M; Gómez, M M; Leite, J P G; Miagostovich, M P; Cristina, J; Berois, M; Colina, R; Victoria, Matías

    2015-11-01

    Canine norovirus (NoV) and astrovirus (AstV) were studied in 20 domestic sewage samples collected in two cities in Uruguay. Four samples were characterized as canine AstV after phylogenetic analysis clustering with strains detected in Italy and Brazil in 2008 and 2012, respectively. One sample was characterized as canine NoV and clustered with a strain detected in Hong Kong and recently classified as GVII. This study shows the occurrence of a canine NoV GVII strain for the first time in the American continent and also warns about possible zoonotic infection, since canine strains were detected in domestic sewage.

  11. Demographics of hip dysplasia in the Maine Coon cat.

    Science.gov (United States)

    Loder, Randall T; Todhunter, Rory J

    2017-04-01

    Objectives The aim of this study was to study the demographics of feline hip dysplasia (FHD) in the Maine Coon cat. Methods The complete hip dysplasia registry (public and private) collected by the Orthopedic Foundation for Animals through April 2015 was accessed. There were 2732 unique cats; 2708 (99.1%) were Maine Coons, and only these were studied. Variables analyzed were sex, month/season of birth and hip dysplasia score. Two groups were created: those with and without FHD. P dysplasia were older. The percentage of bilateral FHD was 56%, and bilateral cases had more severe dysplasia than unilateral cases but with no age difference. Month/season of birth or geographic region of origin did not influence the prevalence of FHD. Conclusions and relevance This is the largest demographic study of FHD in the Maine Coon cat. The overall prevalence in the Orthopedic Foundation for Animals registry was 24.9%, and slightly higher in males (27.3%) than females (23.3%). Dysplasia was more severe in bilateral than unilateral cases and with increasing age. Caution should be used when extrapolating these findings to other feline breeds or other groups of Maine Coon cats. Further studies need to be performed among other breeds and geographic locations to better understand the demographics of feline hip dysplasia.

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

    Science.gov (United States)

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

    2015-01-01

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

  13. Rapidly fatal "congenital lung dysplasia": a case report and review of the literature.

    Science.gov (United States)

    Don, Massimiliano; Orsaria, Maria; Da Dalt, Eva; Tringali, Carmela; Sacher, Bruno

    2014-04-01

    Acinar dysplasia congenital alveolar dysplasia and alveolar capillary dysplasia with misalignment of pulmonary veins belong to the diffuse developmental disorders (congenital lung dysplasia), very rare fatal disorders of infancy that occur early in lung development. A case of quickly fatal congenital lung dysplasia in a full-term infant is presented and underlines the necessity to suspect this disease in a newborn suffering from severe and refractory respiratory distress.

  14. 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

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2011-06-01

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

  17. 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.

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

    Science.gov (United States)

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

    2012-04-01

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

  19. Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

    Science.gov (United States)

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

    2016-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-06-15

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

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

    Science.gov (United States)

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

    1992-08-01

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

  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. Cox-2 levels in canine mammary tumors, including inflammatory mammary carcinoma: clinicopathological features and prognostic significance.

    Science.gov (United States)

    Queiroga, Felisbina Luisa; Perez-Alenza, Maria Dolores; Silvan, Gema; Peña, Laura; Lopes, Carlos; Illera, Juan Carlos

    2005-01-01

    Cyclo-oxygenase (Cox-2) plays an important role in mammary carcinogenesis, nevertheless, its role in canine mammary tumors, and particularly in inflammatory mammary carcinoma (IMC), is unknown. Tumor Cox-2 levels were analyzed by enzyme immunoassay, in post-surgical tumor homogenates of 129 mammary tumors (62 dysplasias and benign tumors, 57 malignant non-IMC and 10 IMC) from 57 female dogs. The highest Cox-2 values were detected in the IMC group. In non-IMC malignant tumors, high values of Cox-2 were related to skin ulceration (p IMC cases could indicate a special role of Cox-2 in the inflammatory phenotype and open the possibility of additional new therapeutic approaches in this special type of mammary cancer in humans and dogs.

  4. Ceramide profile in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

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

    2012-01-01

    Background. Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease. The clinical presentation includes lack of sweating ability, and an often widely spread dermatitis resembling atopic dermatitis (AD). In AD, the skin‐barrier defect is partly ascribed to the altered lipid profile...... in the stratum corneum and partly to mutations of the filaggrin genes. To our knowledge, no data are available about the epidermal lipid profile of HED. Aim. To compare the ceramide profile for patients with HED and AD. Methods. The ceramide profile and ceramide/cholesterol ratio were compared between patients...... with HED (n = 7) and patients with AD (n = 21), using cyanoacrylate to take biopsy samples from the stratum corneum. Lipids were extracted from the biopsies and analysed using high‐performance thin‐layer chromatography. Results. The lipid profiles of HED and AD were similar in distribution, apart from...

  5. Focal cemento-osseous dysplasia of mandible.

    Science.gov (United States)

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

    2012-09-03

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

  6. Photoreceptor cell dysplasia in two Tippler pigeons.

    Science.gov (United States)

    Moore, P A; Munnell, J F; Martin, C L; Prasse, K W; Carmichael, K P

    2004-01-01

    Two 12-week-old Tippler pigeons were evaluated for ocular abnormalities associated with congenital blindness. The pigeons were emaciated and blind. Biomicroscopy and direct and indirect ophthalmoscopy findings of the Tippler pigeons were normal with the exception of partially dilated pupils at rest. Scotopic (blue stimuli) and photopic monocular electroretinograms were extinguished in the blind Tippler pigeons. Histological and electron microscopy studies revealed reduced numbers of rods and cones, and an absence of the double cone complex. The photoreceptor cells' outer segments were absent, and the inner segments were short and broad. The number of cell nuclei in the outer and inner nuclear layers was decreased, and the internal and external plexiform layers were reduced in width. Photoreceptor cell endfeet with developing synaptic ribbons were present in the external plexiform layer. Inflammatory cell and subretinal debris was not seen. The electroretinographic, histopathological, and ultrastructural findings of the blind Tippler pigeons support the diagnosis of a photoreceptor cell dysplasia.

  7. MRI assessment of right ventricular dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Di Cesare, Ernesto [Department of Radiology, University of L' Aquila, via Vetoio 1, 67100, L' Aquila (Italy)

    2003-06-01

    Right ventricular dysplasia is a new entity of unknown origin in the classification of cardiomyopathies. Also known as arrhythmogenic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia, it is a disease of the heart muscle characterised by fibroadipose atrophy mainly involving the right ventricle and responsible for severe ventricular arrhythmias and sudden death also in young people. Magnetic resonance imaging provides evidence of ventricular dilatation at the outflow tract, thinning and thickening of the wall, diastolic bulging areas (especially located at the level of the right ventricle outflow tract) and fatty substitution of the myocardium mainly at the level of the right ventricle. Many radiologists erroneously consider the previously described fatty substitution as the main sign of ARVC, even though an evaluation of fat substitution alone may be a source of error for two reasons: firstly, because isolated areas of fatty replacement are not synonymous with ARVC since small non-transmural focal fatty areas of fat are also present in the normal patients; and secondly, because the MRI detection of fat may be overestimated due to partial-volume artefacts with normal subepicardial fat. Cardiac MRI can also be employed for the diagnosis of idiopathic right ventricular outflow tract tachycardia. Considering the evolutive nature of the disease, the non-invasiveness of MRI allows the follow-up of these patients and may be considered an excellent screening modality for the diagnosis of ARVC in family members. Finally, MRI can be employed in electrophysiological studies to locate the arrhythmogenic focus and reduce sampling errors. (orig.)

  8. The Epidemiology and Demographics of Hip Dysplasia

    Science.gov (United States)

    Loder, Randall T.; Skopelja, Elaine N.

    2011-01-01

    The etiology of developmental dysplasia of the hip (DDH) is unknown. There are many insights, however, from epidemiologic/demographic information. A systematic medical literature review regarding DDH was performed. There is a predominance of left-sided (64.0%) and unilateral disease (63.4%). The incidence per 1000 live births ranges from 0.06 in Africans in Africa to 76.1 in Native Americans. There is significant variability in incidence within each racial group by geographic location. The incidence of clinical neonatal hip instability at birth ranges from 0.4 in Africans to 61.7 in Polish Caucasians. Predictors of DDH are breech presentation, positive family history, and gender (female). Children born premature, with low birth weights, or to multifetal pregnancies are somewhat protected from DDH. Certain HLA A, B, and D types demonstrate an increase in DDH. Chromosome 17q21 is strongly associated with DDH. Ligamentous laxity and abnormalities in collagen metabolism, estrogen metabolism, and pregnancy-associated pelvic instability are well-described associations with DDH. Many studies demonstrate an increase of DDH in the winter, both in the northern and southern hemispheres. Swaddling is strongly associated with DDH. Amniocentesis, premature labor, and massive radiation exposure may increase the risk of DDH. Associated conditions are congenital muscular torticollis and congenital foot deformities. The opposite hip is frequently abnormal when using rigorous radiographic assessments. The role of acetabular dysplasia and adult hip osteoarthritis is complex. Archeological studies demonstrate that the epidemiology of DDH may be changing. PMID:24977057

  9. The correlation between HIV seropositivity, cervical dysplasia, and HPV subtypes 6/11, 16/18, 31/33/35

    DEFF Research Database (Denmark)

    Tweddel, G; Heller, P; Cunnane, M

    1994-01-01

    342 per mm3 for the dysplasia group and 281 per mm3 for the patients without dysplasia. Patients with dysplasia did not differ significantly from patients without dysplasia in regard to risk factors for cervical dysplasia, including history of STD, tobacco use, multiple sexual partners, age at first...

  10. Canine and feline parasitic zoonoses in China

    Directory of Open Access Journals (Sweden)

    Chen Jia

    2012-07-01

    Full Text Available Abstract Canine and feline parasitic zoonoses have not been given high priority in China, although the role of companion animals as reservoirs for zoonotic parasitic diseases has been recognized worldwide. With an increasing number of dogs and cats under unregulated conditions in China, the canine and feline parasitic zoonoses are showing a trend towards being gradually uncontrolled. Currently, canine and feline parasitic zoonoses threaten human health, and cause death and serious diseases in China. This article comprehensively reviews the current status of major canine and feline parasitic zoonoses in mainland China, discusses the risks dogs and cats pose with regard to zoonotic transmission of canine and feline parasites, and proposes control strategies and measures.

  11. 9 CFR 113.201 - Canine Distemper Vaccine, Killed Virus.

    Science.gov (United States)

    2010-01-01

    ... 9 Animals and Animal Products 1 2010-01-01 2010-01-01 false Canine Distemper Vaccine, Killed Virus... REQUIREMENTS Killed Virus Vaccines § 113.201 Canine Distemper Vaccine, Killed Virus. Canine Distemper Vaccine... canine distemper susceptible dogs (20 vaccinates and 5 controls) shall be used as test animals....

  12. 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.

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

    Science.gov (United States)

    Ogunsalu, C; Miles, D

    2005-09-01

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

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

    Science.gov (United States)

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

    2000-01-01

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

  15. PATHOLOGICAL AND MORPHOLOGICAL RESEARCH OF EXPERIMENTAL ACETABULAR DYSPLASIA

    Institute of Scientific and Technical Information of China (English)

    张自明; 马瑞雪; 吉士俊; 牛之彬

    2004-01-01

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

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

  17. 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.

  18. Genetics Home Reference: Schimke immuno-osseous dysplasia

    Science.gov (United States)

    ... 4 links) Health Topic: Bone Diseases Health Topic: Dwarfism Health Topic: Immune System and Disorders Health Topic: ... Immune Deficiency Conditions University of Kansas Medical Center: Dwarfism/Short Stature GeneReviews (1 link) Schimke Immunoosseous Dysplasia ...

  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. Ehlers-Danlos syndrome with monostotic fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Rao A

    1979-01-01

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

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

    OpenAIRE

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

    2016-01-01

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

  2. 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.

  3. 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.

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

    DEFF Research Database (Denmark)

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

    2017-01-01

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

  5. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1989-09-01

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

  7. 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

  8. Early eruption of permanent canines.

    Science.gov (United States)

    Madhu, S

    2012-01-01

    Systemic and local factors can modify the eruption time of teeth. Generalized eruption time changes could be due to some systemic diseases like hyperthyroidism, hypophosphatasia, precocious puberty, Proteus syndrome, etc. Localized early eruption of permanent teeth could be due to early extraction of deciduous teeth. Presented here is an extremely rare case of early eruption of permanent canines in a 7-year old female child. Though the number of such cases is very limited, the clinician should poses adequate knowledge and keeps an open eye to identify such cases.

  9. Early eruption of permanent canines

    Directory of Open Access Journals (Sweden)

    S Madhu

    2012-01-01

    Full Text Available Systemic and local factors can modify the eruption time of teeth. Generalized eruption time changes could be due to some systemic diseases like hyperthyroidism, hypophosphatasia, precocious puberty, Proteus syndrome, etc. Localized early eruption of permanent teeth could be due to early extraction of deciduous teeth. Presented here is an extremely rare case of early eruption of permanent canines in a 7-year old female child. Though the number of such cases is very limited, the clinician should poses adequate knowledge and keeps an open eye to identify such cases.

  10. Prognostic markers of canine pyometra

    Directory of Open Access Journals (Sweden)

    M.C. Sant'Anna

    2014-12-01

    Full Text Available The pyometra is a disease that affects middle age and elderly female dogs during diestrus. Hormonal, microbiological, biochemical and hematological aspects are well described. However, few studies have evaluated the role of each in the prognosis of canine pyometra. The aim of this study was to identify markers associated with clinical worsening of dogs with pyometra. We prospectively evaluated 80 dogs with pyometra treated surgically. Group 1 consisted of dogs that were discharged within 48 hours after surgery and Group 2 consisted of those who required prolonged hospitalization or died. The findings of hematological, biochemical and blood lactate levels were compared between groups and variables such as bacterial multidrug resistance, systemic inflammatory response syndrome (SIRS, hyperlactatemia and increased creatinine were analyzed through the dispersion of frequencies between groups. Among the variables studied, the presence of SIRS and elevated serum creatinine >2.5mg/mL were effective in predicting the worsening of the disease and can be used as prognostic markers of canine pyometra.

  11. Genetic evaluation of the total hip score of four populous breeds of dog, as recorded by the New Zealand Veterinary Association Hip Dysplasia Scheme (1991-2011).

    Science.gov (United States)

    Soo, M; Sneddon, N W; Lopez-Villalobos, N; Worth, A J

    2015-03-01

    To use estimated breeding value (EBV) analysis to investigate the genetic trend of the total hip score (to assess canine hip dysplasia) in four populous breeds of dogs using the records from the New Zealand Veterinary Association (NZVA) Canine Hip Dysplasia Scheme database (1991 to 2011). Estimates of heritability and EBV for the NZVA total hip score of individual dogs from the German Shepherd, Labrador Retriever, Golden Retriever and Rottweiler breeds were obtained using restricted maximum likelihood procedures with a within-breed linear animal model. The model included the fixed effects of gender, birth year, birth season, age at scoring and the random effect of animal. The pedigree file included animals recorded between 1990 and 2011. A total of 2,983 NZVA hip score records, from a pedigree of 3,172 animals, were available for genetic evaluation. Genetic trends of the NZVA total hip score were calculated as the regression coefficient of the EBV (weighted by reliabilities) on year of birth. The estimates of heritability for hip score were 0.32 (SE 0.08) in German Shepherd, 0.37 (SE 0.08) in Labrador Retriever, 0.29 (SE 0.08) in Golden Retriever and 0.52 (SE 0.18) in Rottweiler breeds. Genetic trend analysis revealed that only the German Shepherd breed exhibited a genetic trend towards better hip conformation over time, with a decline of 0.13 (SE 0.04) NZVA total hip score units per year (phip score for the remaining three breeds were not significantly different from zero (p>0.1). Despite moderate heritability of the NZVA total hip score, there has not been substantial improvement of this trait for the four breeds analysed in the study period. Greater improvement in reducing the prevalence of canine hip dysplasia may be possible if screening were to be compulsory as a requirement for registration of pedigree breeding stock, greater selection pressure were to be applied and selection of breeding stock made on the basis on an individual's EBV rather than the NZVA

  12. Genome-wide association study identifies a novel canine glaucoma locus.

    Science.gov (United States)

    Ahonen, Saija J; Pietilä, Elina; Mellersh, Cathryn S; Tiira, Katriina; Hansen, Liz; Johnson, Gary S; Lohi, Hannes

    2013-01-01

    Glaucoma is an optic neuropathy and one of the leading causes of blindness. Its hereditary forms are classified into primary closed-angle (PCAG), primary open-angle (POAG) and primary congenital glaucoma (PCG). Although many loci have been mapped in human, only a few genes have been identified that are associated with the development of glaucoma and the genetic basis of the disease remains poorly understood. Glaucoma has also been described in many dog breeds, including Dandie Dinmont Terriers (DDT) in which it is a late-onset (>7 years) disease. We designed clinical and genetic studies to better define the clinical features of glaucoma in the DDT and to identify the genetic cause. Clinical diagnosis was based on ophthalmic examinations of the affected dogs and 18 additionally investigated unaffected DDTs. We collected DNA from over 400 DTTs and a genome wide association study was performed in a cohort of 23 affected and 23 controls, followed by a fine mapping, a replication study and candidate gene sequencing. The clinical study suggested that ocular abnormalities including abnormal iridocorneal angles and pectinate ligament dysplasia are common (50% and 72%, respectively) in the breed and the disease resembles human PCAG. The genetic study identified a novel 9.5 Mb locus on canine chromosome 8 including the 1.6 Mb best associated region (p = 1.63 × 10(-10), OR = 32 for homozygosity). Mutation screening in five candidate genes did not reveal any causative variants. This study indicates that although ocular abnormalities are common in DDTs, the genetic risk for glaucoma is conferred by a novel locus on CFA8. The canine locus shares synteny to a region in human chromosome 14q, which harbors several loci associated with POAG and PCG. Our study reveals a new locus for canine glaucoma and ongoing molecular studies will likely help to understand the genetic etiology of the disease.

  13. Genome-wide association study identifies a novel canine glaucoma locus.

    Directory of Open Access Journals (Sweden)

    Saija J Ahonen

    Full Text Available Glaucoma is an optic neuropathy and one of the leading causes of blindness. Its hereditary forms are classified into primary closed-angle (PCAG, primary open-angle (POAG and primary congenital glaucoma (PCG. Although many loci have been mapped in human, only a few genes have been identified that are associated with the development of glaucoma and the genetic basis of the disease remains poorly understood. Glaucoma has also been described in many dog breeds, including Dandie Dinmont Terriers (DDT in which it is a late-onset (>7 years disease. We designed clinical and genetic studies to better define the clinical features of glaucoma in the DDT and to identify the genetic cause. Clinical diagnosis was based on ophthalmic examinations of the affected dogs and 18 additionally investigated unaffected DDTs. We collected DNA from over 400 DTTs and a genome wide association study was performed in a cohort of 23 affected and 23 controls, followed by a fine mapping, a replication study and candidate gene sequencing. The clinical study suggested that ocular abnormalities including abnormal iridocorneal angles and pectinate ligament dysplasia are common (50% and 72%, respectively in the breed and the disease resembles human PCAG. The genetic study identified a novel 9.5 Mb locus on canine chromosome 8 including the 1.6 Mb best associated region (p = 1.63 × 10(-10, OR = 32 for homozygosity. Mutation screening in five candidate genes did not reveal any causative variants. This study indicates that although ocular abnormalities are common in DDTs, the genetic risk for glaucoma is conferred by a novel locus on CFA8. The canine locus shares synteny to a region in human chromosome 14q, which harbors several loci associated with POAG and PCG. Our study reveals a new locus for canine glaucoma and ongoing molecular studies will likely help to understand the genetic etiology of the disease.

  14. Prevalence and progression of pectinate ligament dysplasia in the Welsh springer spaniel.

    Science.gov (United States)

    Oliver, J A C; Ekiri, A; Mellersh, C S

    2016-08-01

    To determine the prevalence of pectinate ligament dysplasia in a large group of Welsh springer spaniels; to investigate associations between pectinate ligament dysplasia and age, sex and intraocular pressure and between intraocular pressure and age and sex; and to investigate progression of pectinate ligament dysplasia in individual dogs. In a prospective study, gonioscopy was performed in both eyes of 227 Welsh springer spaniels and intraocular pressure measured by rebound tonometry. Eyes were classified as "unaffected" if 0% of the iridocorneal angle was affected with pectinate ligament dysplasia (grade 0), "mildly affected" if 90% was affected (grade 3). In a retrospective study, progression of pectinate ligament dysplasia over time was investigated for 65 dogs. One hundred and thirty-nine of 227 dogs (61·2%) were affected by pectinate ligament dysplasia (grades 1 to 3) and 82/227 (36·2%) were moderately or severely affected. There was a significant association between pectinate ligament dysplasia and age. There were no associations between pectinate ligament dysplasia and intraocular pressure or pectinate ligament dysplasia and sex. Thirty-five of 65 dogs (53·8%) demonstrated progression of pectinate ligament dysplasia. Prevalence of pectinate ligament dysplasia was high despite widespread screening and selection against the condition. Our data indicate that gonioscopic features of pectinate ligament dysplasia can progress in the Welsh springer spaniel. Dogs deemed unaffected at an early age may subsequently be diagnosed with pectinate ligament dysplasia. © 2016 British Small Animal Veterinary Association.

  15. Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia

    2016-01-01

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

  16. [Imaging of oto-mandibular dysplasias].

    Science.gov (United States)

    Montoya, P; Leboucq, N; Bigorre, M

    2001-10-01

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

  17. Periapical cemento-osseous dysplasia: clinicopathological features.

    Science.gov (United States)

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

    2014-05-01

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

  18. Mandibuloacral dysplasia type A in childhood.

    Science.gov (United States)

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

    2009-10-01

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

  19. Pathogenetic mechanisms of focal cortical dysplasia.

    Science.gov (United States)

    Marin-Valencia, Isaac; Guerrini, Renzo; Gleeson, Joseph G

    2014-07-01

    Focal cortical dysplasias (FCDs) constitute a prevalent cause of intractable epilepsy in children, and is one of the leading conditions requiring epilepsy surgery. Despite recent advances in the cellular and molecular biology of these conditions, the pathogenetic mechanisms of FCDs remain largely unknown. The purpose if this work is to review the molecular underpinnings of FCDs and to highlight potential therapeutic targets. A systematic review of the literature regarding the histologic, molecular, and electrophysiologic aspects of FCDs was conducted. Disruption of the mammalian target of rapamycin (mTOR) signaling comprises a common pathway underlying the structural and electrical disturbances of some FCDs. Other mechanisms such as viral infections, prematurity, head trauma, and brain tumors are also posited. mTOR inhibitors (i.e., rapamycin) have shown positive results on seizure management in animal models and in a small cohort of patients with FCD. Encouraging progress has been achieved on the molecular and electrophysiologic basis of constitutive cells in the dysplastic tissue. Despite the promising results of mTOR inhibitors, large-scale randomized trials are in need to evaluate their efficacy and side effects, along with additional mechanistic studies for the development of novel, molecular-based diagnostic and therapeutic approaches. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

  20. Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, G. [Department of Radiology, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi-ken 321-02 (Japan); Saitoh, Yukihiro; Okuzumi, Shigeharu [Department of Orthopedic Surgery, Kanagawa Children`s Medical Center, Yokohama (Japan); Imaizumi, Kiyoshi [Division of Medical Genetics, Kanagawa Children`s Medical Center, Yokohama (Japan); Hayasaka, Kiyoshi [Department of Pediatrics, Yamagata University School of Medicine, Yamagata (Japan); Hashimoto, Motoya [Department of Pediatrics, Saiseikai Yamagata Hospital, Yamagata (Japan)

    1998-04-01

    Objective. To clarify the phenotype in a bone dysplasia termed ``spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes`` by Stanescu et al. Design and patients.Subjects comprised two definitive cases of one family and one probable case of another family. Histologic examination in one patient warranted the diagnosis of the first family, whereas the diagnosis of the second family was based solely on clinical and radiologic grounds. Results. Pedigrees revealed an autosomal dominant mode of transmission. All three patients shared painful large joints with joint restriction, progressive contracture with osseous expansion of the finger joints, and normal height despite the presence of a short trunk. Moderate platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and most characteristically, broad, elongated femoral necks with striking coxa valga were identical in all patients, but the patient of the second family showed severe brachydactyly unlike the other two patients. Histologic examination revealed PAS-positive, amylase-resistant intracytoplasmic inclusion bodies in the chondrocytes, corresponding to dilated rough endoplasmic reticulum filled with moderately electron-dense materials found by electron microscopy. Conclusion. The manifestations of our patients are sufficiently characteristic to constitute a distinct entity. (orig.) With 7 figs., 6 refs.

  1. Triple bone labeling of canine mandibles

    DEFF Research Database (Denmark)

    Pinholt, E M; Kwon, P H

    1990-01-01

    Fluorescence microscopy was used for evaluation of new bone formation in 16 canine mandibles augmented with hydroxylapatite (HA) granules. Three fluorochromes were injected at different time intervals during therapeutic radiation treatment. Oxytetracycline, DCAF, and alizarin-complexone were give...

  2. Extrusion processing : effects on dry canine diets

    NARCIS (Netherlands)

    Tran, Q.D.

    2008-01-01

    Keywords: Extrusion, Canine diet, Protein, Lysine, Starch gelatinization, Palatability, Drying. Extrusion cooking is a useful and economical tool for processing animal feed. This high temperature, short time processing technology causes chemical and physical changes that alter the nutritional and

  3. Incidence of Impacted Mandibular Canine and Associated ...

    African Journals Online (AJOL)

    Nigerian Quarterly Journal of Hospital Medicine ... Incidence of Impacted Mandibular Canine and Associated Pathologies in an Orthodontic Patient ... The clinical data and panoramic radiographs were reviewed and observations on the status ...

  4. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia

    Directory of Open Access Journals (Sweden)

    Mohammad BARZEGAR

    2012-09-01

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

  5. Hip dysplasia is more severe in Charcot-Marie-Tooth disease than in developmental dysplasia of the hip.

    Science.gov (United States)

    Novais, Eduardo N; Bixby, Sara D; Rennick, John; Carry, Patrick M; Kim, Young-Jo; Millis, Michael B

    2014-02-01

    Patients with Charcot-Marie-Tooth disease may develop hip dysplasia. Hip geometry in these patients has not been well described in the literature. We compared the hip morphometry in Charcot-Marie-Tooth hip dysplasia (CMTHD) and developmental dysplasia of the hip (DDH) in terms of extent of (1) acetabular dysplasia and subluxation, (2) acetabular anteversion and osseous support, (3) coxa valga and femoral version, and (4) osteoarthritis. Fourteen patients with CMTHD (19 hips; mean age, 23 years) presenting for periacetabular osteotomy were matched to 45 patients with DDH (45 hips; mean age, 21 years) based on age, sex, and BMI. We assessed acetabular dysplasia and subluxation using lateral center-edge angle (LCEA), anterior center-edge angle (ACEA), and acetabular roof angle of Tönnis (TA) on plain pelvic radiographs and acetabular volume, area of femoral head covered by acetabulum, and percentage of femoral head covered by acetabulum on three-dimensional CT reconstruction models. Acetabular version and bony support, femoral version, and neck-shaft angle were measured on two-dimensional axial CT scans. Hip osteoarthritis was graded radiographically according to Tönnis criteria. Acetabular dysplasia was more severe in CMTHD, as measured by smaller LCEA (p Hip subluxation was more pronounced in CMTHD, as demonstrated by lower area of femoral head covered by acetabulum (p = 0.034) and percentage of femoral head covered by acetabulum (p = 0.007). CMTHD was associated with higher acetabular anteversion (p hips were found in CMTHD. The extent of acetabular dysplasia, hip subluxation, acetabular anteversion, coxa valga, and hip osteoarthritis was more severe in CMTHD. These findings are important in choosing the appropriate surgical strategy for patients affected by CMTHD.

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

    DEFF Research Database (Denmark)

    Troelsen, Anders

    2012-01-01

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

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

    Science.gov (United States)

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

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

    Directory of Open Access Journals (Sweden)

    Yadavalli Guruprasad

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Sousa, Kátia Maria Marabuco de

    2009-09-01

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

  10. 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.

  11. [Nonsurgical endodontic treatment of an invaginated canine].

    Science.gov (United States)

    Fernández Guerrero, F; Miñana Laliga, R; Bullon Fernandez, P

    1989-01-01

    We present a case of a maxillary canine with a dens invaginatus treated successfully. The patient had pain, swelling and a sinus tract coming from the inmature apex of the canine. The canals were enlarged and cleaned and the main canal was filled with Calcium Hydroxide to allow the root development. Seven months later, the patient was asymptomatic and the tooth was obturated with guttapercha. One year later it was confirm the success in the treatment.

  12. Proliferative histiocytic disorders of canine skin.

    Science.gov (United States)

    Middleton, D J

    1997-06-01

    Proliferative histiocytic disorders of canine skin present a clinical spectrum from the innocuous self-limiting solitary dermal lesion of cutaneous histiocytoma, through the recurrent deep dermal nodules of cutaneous histiocytosis to the generally fatal condition of Bernese Mountain Dogs termed systemic histiocytosis, in which visceral involvement is commonly encountered. Immunocytochemical characterization of the constituent histiocytic cells and accompanying lymphoid infiltrate using canine species specific reagents has elucidated considerably the mechanism by which these conditions exhibit their various biologic behaviours.

  13. Canine babesiosis: from molecular taxonomy to control

    Directory of Open Access Journals (Sweden)

    Irwin Peter J

    2009-03-01

    Full Text Available Abstract Canine babesiosis is a clinically significant emerging vector-borne disease caused by protozoan haemoparasites. This review article considers recent literature pertaining to the taxonomic classification of Babesia and Theileria species affecting dogs and the geographical distribution of these parasites. The diagnosis of canine babesiosis by traditional, molecular and serological methods is reviewed, together with recent advances in our understanding of the pathophysiology of piroplasmosis, and of the treatment and prevention of this disease.

  14. Age estimation from canine volumes.

    Science.gov (United States)

    De Angelis, Danilo; Gaudio, Daniel; Guercini, Nicola; Cipriani, Filippo; Gibelli, Daniele; Caputi, Sergio; Cattaneo, Cristina

    2015-08-01

    Techniques for estimation of biological age are constantly evolving and are finding daily application in the forensic radiology field in cases concerning the estimation of the chronological age of a corpse in order to reconstruct the biological profile, or of a living subject, for example in cases of immigration of people without identity papers from a civil registry. The deposition of teeth secondary dentine and consequent decrease of pulp chamber in size are well known as aging phenomena, and they have been applied to the forensic context by the development of age estimation procedures, such as Kvaal-Solheim and Cameriere methods. The present study takes into consideration canines pulp chamber volume related to the entire teeth volume, with the aim of proposing new regression formulae for age estimation using 91 cone beam computerized scans and a freeware open-source software, in order to permit affordable reproducibility of volumes calculation.

  15. CANINE: a robotic mine dog

    Science.gov (United States)

    Stancil, Brian A.; Hyams, Jeffrey; Shelley, Jordan; Babu, Kartik; Badino, Hernán.; Bansal, Aayush; Huber, Daniel; Batavia, Parag

    2013-01-01

    Neya Systems, LLC competed in the CANINE program sponsored by the U.S. Army Tank Automotive Research Development and Engineering Center (TARDEC) which culminated in a competition held at Fort Benning as part of the 2012 Robotics Rodeo. As part of this program, we developed a robot with the capability to learn and recognize the appearance of target objects, conduct an area search amid distractor objects and obstacles, and relocate the target object in the same way that Mine dogs and Sentry dogs are used within military contexts for exploration and threat detection. Neya teamed with the Robotics Institute at Carnegie Mellon University to develop vision-based solutions for probabilistic target learning and recognition. In addition, we used a Mission Planning and Management System (MPMS) to orchestrate complex search and retrieval tasks using a general set of modular autonomous services relating to robot mobility, perception and grasping.

  16. Despre babesioza canină

    Directory of Open Access Journals (Sweden)

    Andrei Nanu

    2016-06-01

    Full Text Available The objective of this bibliographic essay, addressed both to veterinary clinicians and researchers, is to bring to mind the disease in terms of etiology, clinical manifestations and therapeutic and prophylactic management, as well as to remind the issues arising from recent researches. Depending on the virulence of the parasite species, body's immune response and therapeutic management approached, the plateau of disease evolution can be quite wide - from a favorable prognosis to a lethal outcome of the animal. The complexity of the pathogenic mechanism in babesiosis is due to soluble parasite antigens (SPA which, according to recent studies, have been obtained in vitro and then used as immunological product in disease prevention. Producing a vaccine against canine babesiosis with parasite antigens of local strains could play an important role to prevent the clinical expression of this disease in Romania.

  17. Biomarkers in canine parvovirus enteritis.

    Science.gov (United States)

    Schoeman, J P; Goddard, A; Leisewitz, A L

    2013-07-01

    Canine parvovirus (CPV) enteritis has, since its emergence in 1978, remained a common and important cause of morbidity and mortality in young dogs. The continued incidence of parvoviral enteritis is partly due to the virus' capability to evolve into more virulent and resistant variants with significant local gastrointestinal and systemic inflammatory sequelae. This paper reviews current knowledge on historical-, signalment-, and clinical factors as well as several haematological-, biochemical- and endocrine parameters that can be used as diagnostic and prognostic biomarkers in CPV enteritis. These factors include season of presentation, purebred nature, bodyweight, vomiting, leukopaenia, lymphopaenia, thrombocytopaenia, hypercoagulability, hypercortisolaemia, hypothyroxinaemia, hypoalbuminaemia, elevated C-reactive protein and tumour necrosis factor, hypocholesterolaemia and hypocitrullinaemia. Factors contributing to the manifestations of CPV infection are multiple with elements of host, pathogen, secondary infections, underlying stressors and environment affecting severity and outcome. The availability of several prognosticators has made identification of patients at high risk of death and their subsequent targeted management more rewarding.

  18. Platelets Inhibit Migration of Canine Osteosarcoma Cells.

    Science.gov (United States)

    Bulla, S C; Badial, P R; Silva, R C; Lunsford, K; Bulla, C

    2017-01-01

    The interaction between platelets and tumour cells is important for tumour growth and metastasis. Thrombocytopenia or antiplatelet treatment negatively impact on cancer metastasis, demonstrating potentially important roles for platelets in tumour progression. To our knowledge, there is no information regarding the role of platelets in cancer progression in dogs. This study was designed to test whether canine platelets affected the migratory behaviour of three canine osteosarcoma cell lines and to give insights of molecular mechanisms. Intact platelets, platelet lysate and platelet releasate inhibited the migration of canine osteosarcoma cell lines. Addition of blood leucocytes to the platelet samples did not alter the inhibitory effect on migration. Platelet treatment also significantly downregulated the transcriptional levels of SNAI2 and TWIST1 genes. The interaction between canine platelets or molecules released during platelet activation and these tumour cell lines inhibits their migration, which suggests that canine platelets might antagonize metastasis of canine osteosarcoma. This effect is probably due to, at least in part, downregulation of genes related to epithelial-mesenchymal transition. Copyright © 2016. Published by Elsevier Ltd.

  19. Canine cytogenetics--from band to basepair.

    Science.gov (United States)

    Breen, M

    2008-01-01

    Humans and dogs have coexisted for thousands of years, during which time we have developed a unique bond, centered on companionship. Along the way, we have developed purebred dog breeds in a manner that has resulted unfortunately in many of them being affected by serious genetic disorders, including cancers. With serendipity and irony the unique genetic architecture of the 21st century genome of Man's best friend may ultimately provide many of the keys to unlock some of nature's most intriguing biological puzzles. Canine cytogenetics has advanced significantly over the past 10 years, spurred on largely by the surge of interest in the dog as a biomedical model for genetic disease and the availability of advanced genomics resources. As such the role of canine cytogenetics has moved rapidly from one that served initially to define the gross genomic organization of the canine genome and provide a reliable means to determine the chromosomal location of individual genes, to one that enabled the assembled sequence of the canine genome to be anchored to the karyotype. Canine cytogenetics now presents the biomedical research community with a means to assist in our search for a greater understanding of how genome architectures altered during speciation and in our search for genes associated with cancers that affect both dogs and humans. The cytogenetics 'toolbox' for the dog is now loaded. This review aims to provide a summary of some of the recent advancements in canine cytogenetics.

  20. A new method for rapid Canine retraction

    Directory of Open Access Journals (Sweden)

    "Khavari A

    2001-06-01

    Full Text Available Distraction osteogenesis method (Do in bone lengthening and rapid midpalatal expansion have shown the great ability of osteognic tissues for rapid bone formation under distraction force and special protocol with optimum rate of one millimeter per day. Periodontal membrane of teeth (PDM is the extension of periostium in the alveolar socked. Orthodontic force distracts PDM fibers in the tension side and then bone formation will begin.Objects: Rapid retraction of canine tooth into extraction space of first premolar by DO protocol in order to show the ability of the PDM in rapid bone formation. The other objective was reducing total orthodontic treatment time of extraction cases.Patients and Methods: Tweleve maxillary canines in six patients were retracted rapidly in three weeks by a custom-made tooth-born appliance. Radiographic records were taken to evaluate the effects of heavy applied force on canine and anchorage teeth.Results: Average retraction was 7.05 mm in three weeks (2.35 mm/week. Canines rotated distal- in by mean 3.5 degrees.Anchorage loss was from 0 to 0.8 mm with average of 0.3 mm.Root resorption of canines was negligible, and was not significant clinically. Periodontium was normal after rapid retraction. No hazard for pulp vitality was observed.Discussion: PDM responded well to heavy distraction force by Do protocol. Rapid canine retraction seems to be a safe method and can considerabely reduce orthodontic time.

  1. Clinical and Statistical Study on Canine Impaction

    Directory of Open Access Journals (Sweden)

    Adina-Simona Coșarcă

    2013-08-01

    Full Text Available Aim: The aim of this study was to perform a clinical and statistical research on permanent impacted canine patients among those with dental impaction referred to and treated at the Oral and Maxillo-Facial Surgery Clinic of Tîrgu Mureș, over a four years period (2009-2012. Materials and methods: The study included 858 patients having dental impaction, and upon clinical records, different parameters, like frequency, gender, age, quadrant involvement, patient residence, associated complications, referring specialist and type of treatment, related to canine impaction, were assessed. Results: The study revealed: about 10% frequency of canine impaction among dental impactions; more frequent in women, in the first quadrant (tooth 13; most cases diagnosed between the age of 10-19 years; patients under 20 were referred by an orthodontist, those over 20 by a dentist; surgical exposure was more often performed than odontectomy. Conclusions: Canine impaction is the second-most frequent dental impaction in dental arch after third molars; it occurs especially in women. Due to its important role, canine recovery within dental arch is a goal to be achieved, whenever possible. Therefore, diagnose and treatment of canine impaction requires an interdisciplinary approach (surgical and orthodontic

  2. Arrhythmogenic right ventricular dysplasia: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Wall, E.E. van der; Bootsma, M.M.; Schalij, M.J. [Dept. of Cardiology, Leiden Univ. Medical Center, Leiden (Netherlands); Kayser, H.W.M.; Roos, A. de [Dept. of Radiology, Leiden Univ. Medical Center, Leiden (Netherlands)

    2000-06-01

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

  3. 9 CFR 113.202 - Canine Hepatitis and Canine Adenovirus Type 2 Vaccine, Killed Virus.

    Science.gov (United States)

    2010-01-01

    ..., shall be prepared from virus-bearing cell culture fluids. Only Master Seed Virus which has been... 9 Animals and Animal Products 1 2010-01-01 2010-01-01 false Canine Hepatitis and Canine Adenovirus Type 2 Vaccine, Killed Virus. 113.202 Section 113.202 Animals and Animal Products ANIMAL AND PLANT...

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

    Science.gov (United States)

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

    2009-04-01

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

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

    Science.gov (United States)

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

    2015-12-01

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

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

    NARCIS (Netherlands)

    A.M. Lievense (Annet); S.M. Bierma-Zeinstra (Sita); A.P. Verhagen (Arianne); J.A.N. Verhaar (Jan); B.W. Koes (Bart)

    2004-01-01

    textabstractBackground: It has been suggested that in some patients with primary hip osteoarthritis (OA), the disease occurs as a consequence of acetabular dysplasia or hip dysplasia (HD). Objective: To carry out a systematic review to investigate the association between acetabular dysplasia and hip

  7. Radiological analysis of polyostotic fibrous dysplasia in skeletal system

    Energy Technology Data Exchange (ETDEWEB)

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

    1984-12-15

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

  8. 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.

  9. 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.

  10. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    2004-01-01

    BACKGROUND: The study was performed to qualify the source material of 4151 pelvic radiographs for the research into the relationship between unrecognised childhood hip disorders and the development of hip osteoarthrosis, and to investigate the effect of varying degrees of pelvic tilt and rotation...... on the measurements of radiographic indices of hip dysplasia. MATERIAL AND METHODS: We investigated the effect of varying pelvic orientation on radiographic measurements of acetabular dysplasia using a cadaver model. Results from the cadaver study were used to validate the radiographic assessments of acetabular...... dysplasia in the longitudinal survey cohort of the Copenhagen City Heart Study (CCHS; Osteoarthrosis Sub-study). 1) Cadaver pelvises and proximal femurs from a male and a female donor were mounted anatomically in holding devices allowing independent inclination/reclination and rotation. An AP pelvic...

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

    Energy Technology Data Exchange (ETDEWEB)

    Hisaoka, Masanori; Hashimoto, Hiroshi [Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan); Ohguri, Takayuki [Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan); Department of Radiology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan); Aoki, Takatoshi [Department of Radiology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan); Okamoto, Sumika; Ishida, Tsuyoshi [Department of Pathology, NTT MC Kanto Medical Center, Tokyo (Japan); Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka [Department of Orthopedic Surgery, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan)

    2004-09-01

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

  12. 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 acetabular...... radiograph was recorded at each 3 degrees increment. The most widely used radiographic parameters of hip dysplasia were assessed. 2) Critical limits of acceptable rotation and inclination/reclination of pelvises were determined on 4151 standing, standardised pelvic radiographs of the CCHS cohort. RESULTS......BACKGROUND: The study was performed to qualify the source material of 4151 pelvic radiographs for the research into the relationship between unrecognised childhood hip disorders and the development of hip osteoarthrosis, and to investigate the effect of varying degrees of pelvic tilt and rotation...

  13. Oculodentodigital dysplasia. Four new reports and a literature review.

    Science.gov (United States)

    Judisch, G F; Martin-Casals, A; Hanson, J W; Olin, W H

    1979-05-01

    Four new patients with oculodentodigital dysplasia (ODD) have been examined. The salient and fairly constant features of ODD appear to be (1) unique facial appearance, (2) microcornea with other inconstant ocular findings, (3) syndactyly of the hands with additional characteristic phalangeal aberrations, (4) diffuse skeletal dysplasia, (5) enamel dysplasia, and (6) trichosis. Echographic studies indicate that ODD globes have microcornea with otherwise normal dimensions. An increased number of vessels crossing the optic discs was observed in three patients from one family. The distance between the inner canthi and the medial orbital walls in three patients we studied suggests that previous reports of hypertelorism may have been illusions resulting from microcornea, small palpebral fissures, and variably present epicanthus.

  14. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2008-01-15

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

  15. Comparative studies of canine colipase and lipases from bovine, porcine, canine, human and rat pancreases.

    Science.gov (United States)

    Lee, P C

    1978-01-01

    1. Colipase was purified from canine pancreatic juice and found to have certain specificity in its reaction with various pancreatic lipases. 2. This colipase will stimulate the lipolytic activities of lipases isolated from canine, bovine and porcine pancreas but not lipases from a fungus, or from human and rat pancreases. 3. Characterization of these lipases showed (a) the molecular dimension of rat lipase is very different from the other lipases; (b) the pIs of canine, porcine and bovine lipases are almost identical but different from the pIs of rat, human and Candida (a fungus) lipases; and (c) the antiserum prepared against canine lipase will also react with lipases from human, hog and cow pancreases but not with rat and Candida lipases. 4. These physical differences can explain partly the difference in reaction between the various lipases and the canine colipase.

  16. Three-dimensional canine loop for management of buccally erupted canines

    Directory of Open Access Journals (Sweden)

    Praveen Mehrotra

    2015-01-01

    Full Text Available Maxillary canines are known as the cornerstones of mouth. They are considered to be important for esthetics and for functional occlusion. Any disturbance in the eruption process leading to an aberrant position will hamper esthetics as well as function. Orthodontic tooth movement of total buccally blocked-out canine is usually difficult as it is related with the problems of severe crowding, midline deviation, involvement of long root movement and risk of gingival recession. Such conditions can be treated orthodontically in various ways, but this clinical innovation helps to correct the buccally placed canines into the arch with a precise control of the canine in all the Three-dimensions (3D of space as well as providing maximum comfort to the patient by placing the canine loop on the palatal surface of the tooth, reducing soreness on the labial mucosa. It can be easily fabricated and activated at chairside for either simultaneous or sequential control in 3D.

  17. Analysis of hip dysplasia and spinopelvic alignment in cerebral palsy.

    Science.gov (United States)

    Suh, Dong-Hun; Hong, Jae-Young; Suh, Seung-Woo; Park, Jong-Woong; Lee, Sang-Hee

    2014-11-01

    Knowledge of sagittal spinopelvic parameters and hip dysplasia is important in cerebral palsy (CP) patients because these parameters differ from those found in the general population and can be related to symptoms. The purpose of this study was to analyze sagittal spinopelvic alignment and determine its relation to hip dysplasia in CP patients. Radiological analysis was conducted on patients with CP. Fifty-four patients with CP and 24 normal controls were included in this study. Participants underwent radiographs of the whole spine. The patient and control groups comprised 54 CP patients and 24 volunteers, respectively. All underwent lateral radiography of the whole spine and hip joint anteroposterior radiography. The radiographic parameters examined were sacral slope, pelvic tilt, pelvic incidence, S1 overhang, thoracic kyphosis, thoracolumbar kyphosis, lumbar lordosis, sagittal balance, center edge angle, acetabular angle, and migration index. Statistical analysis was performed to identify significant differences and correlations between the two groups. Sacral slope, thoracolumbar kyphosis, lumbar lordosis, sagittal balance, acetabular angle, and migration index were significantly higher in CP patients, whereas pelvic tilt, S1 overhang, and center edge angle were significantly lower (phip dysplasia parameters, center edge angle and acetabular angle were found to be interrelated (phip dysplasia parameters were found to be related to hip or spinal symptoms. This study found significant differences between CP patients and normal controls in terms of spinopelvic alignment and hip dysplasia. Furthermore, relationships were found between the sagittal spinopelvic parameters and hip dysplasia, and correlations were found between sagittal spinopelvic parameters and pain. Copyright © 2014 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    Tortoledo, Maria; Galindo, A; Ibarrola, C

    2010-01-01

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

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

    Science.gov (United States)

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

    2012-03-01

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

  20. 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

  1. Septo-optic dysplasia with bilateral congenital corneal anesthesia.

    Science.gov (United States)

    Chow, Clement C; Kapur, Rashmi; Wood, Michael G; Setabutr, Pete; Tu, Elmer Y

    2009-10-01

    Septo-optic dysplasia, or de Morsier syndrome, is characterized by optic nerve hypoplasia with an absent septum pellucidum and/or pituitary abnormalities. Congenital corneal anesthesia is a rare disorder that has been associated with many neurological disorders. Here we present a patient with both conditions who was successfully treated with permanent lateral tarsorrhaphy and aggressive lubrication. To our knowledge, congenital corneal anesthesia has not been reported in association with septo-optic dysplasia. The purpose of this report is to make pediatric ophthalmologists aware of a potential association since the diagnosis of congenital corneal anesthesia is often difficult and delayed.

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

    Science.gov (United States)

    Syrcle, Jason

    2017-07-01

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

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

    Directory of Open Access Journals (Sweden)

    Michael A. Meyer

    2014-06-01

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

  4. 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.

  5. Fibrous dysplasia localized to spine: a diagnostic dilemma

    Energy Technology Data Exchange (ETDEWEB)

    Gogia, Nidhi; Gulati, Manpreet [All India Institute of Medical Sciences, Department of Radiology, New Delhi (India); Marwaha, V. [All India Institute of Medical Sciences, Department of Radiology, New Delhi (India); All India Institute of Medical Sciences, Department of Medicine, New Delhi (India); Atri, S. [All India Institute of Medical Sciences, Department of Pathology, New Delhi (India); Gupta, Rajiva [All India Institute of Medical Sciences Ansari Nagar, Department of Medicine, Division of Rheumatology and Clinical Immunology, New Delhi (India)

    2007-06-15

    Fibrous dysplasia of the spine is uncommon, especially in monostotic form. Isolated vertebral involvement in polyostotic form is very rare. We report a case of polyostotic fibrous dysplasia with lesions localized to dorso-lumbar spine in a 45-year-old rheumatoid arthritis patient. No associated appendicular lesions, cutaneous manifestations or endocrinopathies were seen. The extreme rarity of this type of lesion can pose a diagnostic dilemma, and biopsy is required for diagnosis. The association with rheumatoid arthritis in our case seems to be a chance occurrence. (orig.)

  6. Sexual Dimorphism in Human Mandibular Canine Teeth: A Radiomorphometric Study

    Directory of Open Access Journals (Sweden)

    K S Nagesh

    2011-01-01

    Conclusion: The present study establishes a statistically significant sexual dimorphism in mandibular canines- It can be concluded that the standard mandibular canine index is a quick and easy method for sex determination.

  7. Complications of misdiagnosis of maxillary canine ectopic eruption.

    Science.gov (United States)

    Garib, Daniela Gamba; Janson, Guilherme; Baldo, Taiana de Oliveira; dos Santos, Patrícia Bittencourt Dutra

    2012-08-01

    Ectopic eruption of maxillary canines can be associated with root resorption of adjacent teeth. This case report describes and discusses an interesting case of a 15-year-old girl with a Class III malocclusion and an impacted maxillary canine. Because of the unfavorable position of the ectopic canine and the severe root resorption of the maxillary left central and lateral incisors, the treatment options included extraction of the maxillary permanent canines. The mandibular first premolars were extracted to compensate for the Class III malocclusion. A panoramic radiograph taken earlier in the mixed dentition already indicated a possible eruption disturbance of the maxillary left permanent canine. The importance of early diagnosis of maxillary canine ectopic eruption is highlighted in this case report. The early identification of radiographic signs of an ectopic pathway of eruption should be followed by deciduous canine extraction to prevent canine retention and maxillary incisor root resorption.

  8. Monitoring Hip and Elbow Dysplasia achieved modest genetic improvement of 74 dog breeds over 40 years in USA.

    Directory of Open Access Journals (Sweden)

    Yali Hou

    Full Text Available Hip (HD and Elbow Dysplasia (ED are two common complex developmental disorders of dogs. In order to decrease their prevalence and severity, the Orthopedic Foundation for Animals (OFA has a voluntary registry of canine hip and elbow conformation certified by boarded radiologists. However, the voluntarily reports have been severely biased against exposing dogs with problems, especially at beginning period. Fluctuated by additional influential factors such as age, the published raw scores barely showed trends of improvement. In this study, we used multiple-trait mixed model to simultaneously adjust these factors and incorporate pedigree to derive Estimated Breeding Values (EBV. A total of 1,264,422 dogs from 74 breeds were evaluated for EBVs from 760,455 hip scores and 135,409 elbow scores. These EBVs have substantially recovered the reporting bias and the other influences. Clear and steady trends of genetic improvement were observed over the 40 years since 1970. The total genetic improvements were 16.4% and 1.1% of the phenotypic standard deviation for HD and ED, respectively. The incidences of dysplasia were 0.83% and 2.08%, and the heritabilities were estimated as 0.22 and 0.17 for hip and elbow scores, respectively. The genetic correlation between them was 0.12. We conclude that EBV is more effective than reporting raw phenotype. The weak genetic correlation suggested that selection based on hip scores would also slightly improve elbow scores but it is necessary to allocate effort toward improvement of elbow scores alone.

  9. Monitoring Hip and Elbow Dysplasia Achieved Modest Genetic Improvement of 74 Dog Breeds over 40 Years in USA

    Science.gov (United States)

    Zhang, Xu; Zhao, Qian; Todhunter, Rory J.; Zhang, Zhiwu

    2013-01-01

    Hip (HD) and Elbow Dysplasia (ED) are two common complex developmental disorders of dogs. In order to decrease their prevalence and severity, the Orthopedic Foundation for Animals (OFA) has a voluntary registry of canine hip and elbow conformation certified by boarded radiologists. However, the voluntarily reports have been severely biased against exposing dogs with problems, especially at beginning period. Fluctuated by additional influential factors such as age, the published raw scores barely showed trends of improvement. In this study, we used multiple-trait mixed model to simultaneously adjust these factors and incorporate pedigree to derive Estimated Breeding Values (EBV). A total of 1,264,422 dogs from 74 breeds were evaluated for EBVs from 760,455 hip scores and 135,409 elbow scores. These EBVs have substantially recovered the reporting bias and the other influences. Clear and steady trends of genetic improvement were observed over the 40 years since 1970. The total genetic improvements were 16.4% and 1.1% of the phenotypic standard deviation for HD and ED, respectively. The incidences of dysplasia were 0.83% and 2.08%, and the heritabilities were estimated as 0.22 and 0.17 for hip and elbow scores, respectively. The genetic correlation between them was 0.12. We conclude that EBV is more effective than reporting raw phenotype. The weak genetic correlation suggested that selection based on hip scores would also slightly improve elbow scores but it is necessary to allocate effort toward improvement of elbow scores alone. PMID:24124555

  10. Serological detection of infection with canine distemper virus, canine parvovirus and canine adenovirus in communal dogs from Zimbabwe.

    Science.gov (United States)

    McRee, Anna; Wilkes, Rebecca P; Dawson, Jessica; Parry, Roger; Foggin, Chris; Adams, Hayley; Odoi, Agricola; Kennedy, Melissa A

    2014-09-05

    Domestic dogs are common amongst communities in sub-Saharan Africa and may serve as important reservoirs for infectious agents that may cause diseases in wildlife. Two agents of concern are canine parvovirus (CPV) and canine distemper virus (CDV), which may infect and cause disease in large carnivore species such as African wild dogs and African lions, respectively. The impact of domestic dogs and their diseases on wildlife conservation is increasing in Zimbabwe, necessitating thorough assessment and implementation of control measures. In this study, domestic dogs in north-western Zimbabwe were evaluated for antibodies to CDV, CPV, and canine adenovirus (CAV). These dogs were communal and had no vaccination history. Two hundred and twenty-five blood samples were collected and tested using a commercial enzyme-linked immunosorbent assay (ELISA) for antibodies to CPV, CDV, and CAV. Of these dogs, 75 (34%) had detectable antibodies to CDV, whilst 191 (84%) had antibodies to CPV. Antibodies to canine adenovirus were present in 28 (13%) dogs. Canine parvovirus had high prevalence in all six geographic areas tested. These results indicate that CPV is circulating widely amongst domestic dogs in the region. In addition, CDV is present at high levels. Both pathogens can infect wildlife species. Efforts for conservation of large carnivores in Zimbabwe must address the role of domestic dogs in disease transmission.

  11. Serological detection of infection with canine distemper virus, canine parvovirus and canine adenovirus in communal dogs from Zimbabwe

    Directory of Open Access Journals (Sweden)

    Anna McRee

    2014-02-01

    Full Text Available Domestic dogs are common amongst communities in sub-Saharan Africa and may serve as important reservoirs for infectious agents that may cause diseases in wildlife. Two agents of concern are canine parvovirus (CPV and canine distemper virus (CDV, which may infect and cause disease in large carnivore species such as African wild dogs and African lions, respectively. The impact of domestic dogs and their diseases on wildlife conservation is increasing in Zimbabwe, necessitating thorough assessment and implementation of control measures. In this study, domestic dogs in north-western Zimbabwe were evaluated for antibodies to CDV, CPV, and canine adenovirus (CAV. These dogs were communal and had no vaccination history. Two hundred and twenty-five blood samples were collected and tested using a commercial enzyme-linked immunosorbent assay (ELISA for antibodies to CPV, CDV, and CAV. Of these dogs, 75 (34% had detectable antibodies to CDV, whilst 191 (84% had antibodies to CPV. Antibodies to canine adenovirus were present in 28 (13% dogs. Canine parvovirus had high prevalence in all six geographic areas tested. These results indicate that CPV is circulating widely amongst domestic dogs in the region. In addition, CDV is present at high levels. Both pathogens can infect wildlife species. Efforts for conservation of large carnivores in Zimbabwe must address the role of domestic dogs in disease transmission.

  12. Treatment and prevention of hip dysplasia in infants and young children.

    Science.gov (United States)

    Judd, Julia; Clarke, Nicholas M P

    2014-11-01

    The diagnosis and treatment of developmental dysplasia of the hip in the infant are uniform, with consensus that diagnostic ultrasound and Pavlik harness management are standard procedures. Sequential procedures for failed early treatment, residual dysplasia and late diagnosis are dependent on the age and the severity of the dysplasia. This paper reviews the treatment of developmental dysplasia of the hip from birth to subsequent follow-up procedures, with particular reference to some of the senior authors' research and the Southampton approach to the management of hip dysplasia. Copyright © 2014 Elsevier Ltd. All rights reserved.

  13. Histogenesis of retinal dysplasia in trisomy 13

    Science.gov (United States)

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

    2007-01-01

    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 retinoblastoma, being

  14. 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

  15. Booster effect of canine distemper, canine parvovirus infection and infectious canine hepatitis combination vaccine in domesticated adult dogs.

    Science.gov (United States)

    Taguchi, Masayuki; Namikawa, Kazuhiko; Maruo, Takuya; Orito, Kensuke; Lynch, Jonathan; Tsuchiya, Ryo; Sahara, Hiroeki

    2012-08-01

    Domesticated adult dogs with antibody titer classified as below 'high' to one or more of canine distemper virus (CDV), canine parvovirus type-2 (CPV-2) and canine adenovirus type-1 (CAdV-1) were then given an additional inoculation, and the effectiveness of this booster evaluated 2 months later. Consequently, CDV and CAdV-1 antibody titer experienced a significant increase, but the same effect was not observed in the antibody titer of CPV-2. These findings suggest that with additional inoculation, a booster effect may be expected in increasing antibody titers for CDV and CAdV-1, but it is unlikely to give an increase in CPV-2 antibody titer.

  16. Antibody titers for canine parvovirus type-2, canine distemper virus, and canine adenovirus type-1 in adult household dogs.

    Science.gov (United States)

    Taguchi, Masayuki; Namikawa, Kazuhiko; Maruo, Takuya; Orito, Kensuke; Lynch, Jonathan; Sahara, Hiroeki

    2011-09-01

    Serum antibody titers for canine parvovirus type-2 (CPV-2), canine distemper virus (CDV) and canine adenovirus type-1 (CAV-1) were investigated in 1031 healthy adult household dogs (2 to 18 years old) given an annual inoculation in the previous 11 to 13 months. The number of dogs retaining significant titers of antibodies against CPV-2, CDV, and CAV-1 were 888 (86%), 744 (72%), and 732 (71%), respectively. There were no differences between males and females in antibody titers against the 3 viruses. Antibody titer for CPV-2 was significantly higher in younger dogs than in older dogs, CDV antibody was significantly higher in older dogs than in younger dogs, and CAV titer was not associated with age.

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

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

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

  18. 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...

  19. Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Chiara Di Pede

    2016-01-01

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

  20. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    2004-01-01

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

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

    NARCIS (Netherlands)

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

    2016-01-01

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

  2. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2008-08-15

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

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

    Science.gov (United States)

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

    1990-06-01

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

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

    Science.gov (United States)

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

    1971-06-01

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

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

    Science.gov (United States)

    Kamath, Atul F

    2016-05-18

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

  6. QT dispersion in patients with arrhythmogenic right ventricular dysplasia

    DEFF Research Database (Denmark)

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

    1999-01-01

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

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

    Science.gov (United States)

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

    2013-12-01

    Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.

  8. Bilateral dysplasia epiphysealis hemimelica: report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Merzoug, Valerie; Kalifa, Gabriel [Service de Radiologie, Hopital Saint Vincent de Paul, Paris (France); Wicard, Philippe; Dubousset, Jean [Service de Chirurgie Orthopedique, Hopital Saint Vincent de Paul, Paris (France)

    2002-06-01

    Dysplasia epiphysealis hemimelica is a rare congenital disorder characterised by unilateral bone overgrowth from large joints, mainly the ankle or knee. We present two cases with bilateral lesions; only two similar cases with bilateral involvement have been reported hitherto. The differential diagnosis is considered. (orig.)

  9. RUNX2 analysis of Danish cleidocranial dysplasia families

    DEFF Research Database (Denmark)

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

    2011-01-01

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

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

    NARCIS (Netherlands)

    Winding, Louise; Loane, Maria; Wellesley, Diana; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian K.; Bianchi, Fabrizio; Calzolari, Elisa; Gatt, Miriam; Haeusler, Martin; Lelong, Nathalie; Mullaney, Carmel; Scarano, Gioacchino; Tucker, David; Wiesel, Awi; Garne, Ester

    2014-01-01

    ObjectivesThe aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). MethodsThe 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

  11. 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.

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

    NARCIS (Netherlands)

    Kalk, WWI; Batenburg, RHK; Vissink, A

    1998-01-01

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

  13. Composite mandibular allografts in canines

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective: To evaluate the feasibility of transplanting composite mandibular allografts to repair large mandibular defects. Methods: Three composite mandibular transplantation models were established. The first model consisted of hemimandible with the attached teeth, muscle and skin, and oral mucosa. The second model was transplanted in the same way with the first one excluding oral mucosa and some teeth, and third one excluding the oral mucosa and all dental crowns. Fourteen transplanting operations were performed in canines. Cyclosporine A and methylprednisone were given for immunosuppression. Results: The composite mandibular organs had an effective and closed return circuit. Transplantation of vascularized allograft of mandibular compound organs was feasible. Two longest time survivors of 67 d and 76 d were in the third model group. Cyclosporine A was successful in suppressing rejection of transplanted composite allograft and prolonging survival time of transplantation models. Conclusions: The composite mandibular allografts were available with large block of living composite tissue,and helpful in restoration of appearance and function for severe mandibular defects.

  14. Canine pyometra: What is new?

    Science.gov (United States)

    Hagman, R

    2017-04-01

    Pyometra is a common disease in countries where elective spaying is not routinely performed. Hormonal and bacterial factors are fundamental in the pathogenesis of the disease, which manifests itself as a potentially life-threatening bacterial infection of the uterus. Surgical ovariohysterectomy is the safest and most effective treatment for pyometra, and it has recently been shown that laparoscopically assisted methods for surgical treatment are feasible to use in selected cases. New protocols for improved medical treatment alternatives have also been tested with promising results. To be able to predict outcome and presence of complications early would be valuable in clinical practice for optimizing therapy and increasing survival. Results of commonly investigated clinical and laboratory investigations have been shown to be useful as predictive markers, with leucopenia being associated with increased risk of peritonitis as well as prolonged post-operative hospitalization after surgical treatment. A cage-side rapid and cost-effective diagnostic test would be highly valuable in clinical practice, and detection of pyometra-specific upregulated genes in the uterus and the corresponding products is a potential start in identifying novel markers suitable for such as test. The focus of the present review is to highlight recent findings on pathogenesis, prediction of outcome, diagnosis and treatment. Additionally, central research questions and suggestions for future investigations about several aspects of canine pyometra will be addressed. © 2016 Blackwell Verlag GmbH.

  15. Canine mammary tumors - clinical survey

    Directory of Open Access Journals (Sweden)

    Elena Atanaskova Petrov

    2014-10-01

    Full Text Available Mammary tumours are the second most frequent neoplasia in dogs, mainly affecting older female patients. Approximately 50% of the mammary tumours are malignant with high percentage of mortality if not treated in time. The aim of this study was to analyze the data of canine patients with mammary tumours, to evaluate the type of tumours, as well as the relationship between tumour incidence and dogs’ age, reproductive cycle and sterilization. The survey was used to retrieve the information in the period of two years from the patient data base of the University Veterinary Hospital at the Faculty of Veterinary medicine in Skopje. Patients included in this survey were subjected to routine clinical investigation and additional laboratory tests (cytological examination, x-rays imaging, CBC and biochemical profile, histopathology of the tumor samples. Aged female patients (12 – 13 years are the most susceptible category for development of mammary tumours. The reproductive history showed that five of the patients with malignant mammary tumourshave never whelped and were not treated with any exogenous hormones. Malignant tumours (adenocarcinoma were diagnosed in 90% of the patients. Three patients died due to lung metastasis. Late diagnosis is one of the major problems that results in lethal outcome due to lung metastases. Since ovarian steroids play an important role in the aetiology, the most effective prevention of mammary tumoursis elective ovariectomy of the bitch at an early age.

  16. Focal cortical dysplasia and hemimegalencephaly: histological and neuroimaging correlations

    Energy Technology Data Exchange (ETDEWEB)

    Adamsbaum, C.; Cohen, P.A.; Kalifa, G. [Service de Radiologie, Hopital St Vincent de Paul, Paris (France); Robain, O. [INSERM U29, Hopital St Vincent de Paul, Paris (France); Delalande, O. [Service de Neuro-chirurgie, Fondation Rotschild, Paris (France); Fohlen, M. [Service de Neurologie, Hopital St Vincent de Paul, Paris (France)

    1998-08-01

    Background. The classification of cerebral cortical dysplasia is difficult and there are histological similarities between focal cortical dysplasia (FCD) and hemimegalencephaly. Objectives. To correlate the MR features and histological data of cortical dysplasias. Materials and methods. The MR appearances of 17 brains were examined. According to the signal intensity within the pathological area on T2-weighted (T2-W) sequences we selected two groups. Results. Group 1 comprised ten patients with high signal in the dysplastic area on T2-W images. This group included five hemimegalencephalies, three frontal quadramegalencephalies, and one gyral dysplasia. The pathological hemisphere was reduced in size in one case. The cortex was thickened in all cases on T1-weighted (T1-W) images. There was loss of delineation between white matter (WM) and grey matter (GM) in all cases on both T1-W and T2-W sequences. The differential diagnosis with tumour, neoplastic-like malformation or polymicrogyria was questionable. Group 2 comprised seven patients presenting without increased signal within the dysplastic area on T2-W images. WM and GM were of similar signal intensity in six cases, and delineation between white and grey matter was absent in all cases. There were mild abnormalities on T1-W sequences in all cases. The dysplasias were limited to a lobe in five cases and a gyrus in two cases. In all cases, depiction of the malformation was a greater diagnostic problem than the differential diagnosis. Conclusions. A constant MR sign in our series was the loss of delineation between WM and GM in the dysplastic area. This correlated well with the observed histological disorganisation. Markedly high signal within the dysplastic area seems to be related to myelin abnormalities rather than glial cell abnormalities. (orig.) With 5 figs., 2 tabs., 21 refs.

  17. Photodynamic Therapy for Head and Neck Dysplasia and Cancer

    Science.gov (United States)

    Rigual, Nestor R.; Thankappan, Krishnakumar; Cooper, Michele; Sullivan, Maureen A.; Dougherty, Thomas; Popat, Saurin R.; Loree, Thom R.; Biel, Merrill A.; Henderson, Barbara

    2009-01-01

    Objective To determine the response of dysplasia, carcinoma in situ (CIS), and T1 carcinoma of the oral cavity and larynx to photodynamic therapy with porfimer sodium. Design Prospective trial. Setting A National Cancer Institute–designated cancer institute. Patients Patients with primary or recurrent moderate to severe oral or laryngeal dysplasia, CIS, or T1N0 carcinoma. Intervention Porfimer sodium, 2 mg/kg of body weight, was injected intravenously 48 hours before treatment. Light at 630 nm for photosensitizer activation was delivered from an argon laser or diode laser using lens or cylindrical diffuser fibers. The light dose was 50 J/cm2 for dysplasia and CIS and 75 J/cm2 for carcinoma. Main Outcome Measures Response was evaluated at 1 week and at 1 month and then at 3-month intervals thereafter. Response options were complete (CR), partial (PR), and no (NR) response. Posttreatment biopsies were performed in all patients with persistent and recurrent visible lesions. Results Thirty patients were enrolled, and 26 were evaluable. Mean follow-up was 15 months (range, 7–52 months). Twenty-four patients had a CR, 1 had a PR, and 1 had NR. Three patients with oral dysplasia with an initial CR experienced recurrence in the treatment field. All the patients with NR, a PR, or recurrence after an initial CR underwent salvage treatment. Temporary morbidities included edema, pain, hoarseness, and skin phototoxicity. Conclusion Photodynamic therapy with porfimer sodium is an effective treatment alternative, with no permanent sequelae, for oral and laryngeal dysplasia and early carcinoma. PMID:19687399

  18. Proteins of the canine seminal plasma

    Directory of Open Access Journals (Sweden)

    Annice Aquino-Cortez

    2016-05-01

    Full Text Available ABSTRACT: Studies have been performed to identify the proteins present in canine seminal plasma (SP and relate them to sperm quality as well as to discover molecular markers of reproductive tract diseases. There is evidence that heparin-binding proteins, zinc-binding proteins, and lactoferrin as well as the matrix metalloproteinase, superoxide dismutase, catalase, and glutathione peroxidase enzymes are associated with canine sperm quality. Other studies indicate that prolactin and enzymes like arginine esterase, acid phosphatase, and alkaline phosphatase could be successfully used as biomarkers of reproductive disorders. Thus, the present literature review aims to address aspects related to proteins of the canine SP, their influence on fertility, and their importance as biomarkers of reproductive disorders.

  19. Coryneform bacteria associated with canine otitis externa

    DEFF Research Database (Denmark)

    Aalbæk, Bent; Bemis, David A.; Schjærff, Mette

    2010-01-01

    of coryneform bacteria was 16% among 55 cases of canine otitis externa examined at the Danish hospital during 2007. In contrast, detectable levels of coryneform bacteria were not demonstrated in samples from the acustic meatus of 35 dogs with apparently healthy ears, attending the hospital during the same year......This study aims to investigate the occurrence of coryneform bacteria in canine otitis externa. A combined case series and case-control study was carried out to improve the current knowledge on frequency and clinical significance of coryneform bacteria in samples from canine otitis externa. A total...... of 16 cases of otitis externa with involvement of coryneform bacteria were recorded at two referral veterinary hospitals in Denmark and the US, respectively. Coryneform bacteria were identified by partial 16S rRNA gene sequencing. Corynebacterium auriscanis was the most common coryneform species (10...

  20. Overexpression of vimentin in canine prostatic carcinoma

    DEFF Research Database (Denmark)

    Rodrigues, M M P; Rema, A; Gärtner, F

    2011-01-01

    Canine prostatic tumours exhibit similarities to those of man and may represent a useful model system to explore the mechanisms of cancer progression. Tumour progression to malignancy requires a change from an epithelial phenotype to a fibroblastic or mesenchymal phenotype. Vimentin expression...... is associated with the invasive phenotype of human prostate cancer cells. The aim of the present study was to characterize immunohistochemically the expression of vimentin by canine prostatic carcinomas. Primary carcinomas and metastatic tumour foci both showed vimentin expression. This finding suggests...... that the acquisition of the epithelial-mesenchymal transition phenotype in canine prostatic carcinoma may be characterized by the presence of mesenchymal intermediate filament (vimentin) that could lead to a higher likelihood of metastasis....

  1. Biomarkers in canine inflammatory bowel disease diagnostics.

    Science.gov (United States)

    Wdowiak, M; Rychlik, A; Kołodziejska-Sawerska, A

    2013-01-01

    Canine inflammatory bowel disease (IBD) is a heterogeneous group of chronic gastrointestinal disorders. The etiology, similar to human IBD, remains unknown. Canine IBD is diagnosed by exclusion, which is a long, time and money-consuming process due to the need of elimination of other diseases presenting with similar symptoms. Therefore, a search for a specific and sensitive marker is needed to overcome these difficulties. The article is divided into 3 sections presenting up-to-date information about laboratory markers, immunohistochemical markers and changes in the neurochemical coding of the enteric nervous system, concentrating on their usefulness and future applications. Data concerning laboratory and immunohistochemical markers is based mainly on canine IBD, while the neuroimmunohistochemistry section presents knowledge from human IBD due to the lack of such studies in veterinary medicine.

  2. Early and unusual incisor resorption due to impacted maxillary canines.

    Science.gov (United States)

    Otto, Ronald L

    2003-10-01

    A very early and severe case of maxillary incisor resorption caused by impacted canines is reported. An estimated 50,000 cases of ectopic eruption and impaction of maxillary canines occur each year in the United States. Although incisor resorption due to ectopically positioned permanent maxillary canines can be swift, silent, and devastating, an effective protocol has been developed for early detection and management of this condition. Palpation and, if indicated, radiographic evaluation are combined with primary canine removal in selected cases. These strategies--particularly when used early--can prevent the vast majority of palatally impacted maxillary canines and the potentially devastating resorption of adjacent incisors.

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

    NARCIS (Netherlands)

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

    2014-01-01

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

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

    Science.gov (United States)

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

    1997-07-11

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

  5. Acetabuloplasties at Open Reduction Prevent Acetabular Dysplasia in Intentionally Delayed Developmental Dysplasia of the Hip: A Case-control Study.

    Science.gov (United States)

    Carsi, M Belen; Clarke, Nicholas M P

    2016-05-01

    Avascular necrosis (AVN) and residual acetabular dysplasia are the two main complications of developmental dysplasia of the hip (DDH) treatment. Although early reduction of the hip may decrease the incidence of residual dysplasia, it may increase the incidence of AVN and vice versa. However, we do not know if changes in surgical technique may lead to a modification in these outcomes. Does an incomplete periacetabular acetabuloplasty, as an added step to delayed open reduction, (1) diminish the risk of developing acetabular dysplasia; or (2) increase the rate of AVN compared with patients treated with open reduction alone? We conducted a retrospective matched case-control study comparing 22 patients (27 hips) with early isolated DDH who underwent intentionally delayed open reduction and acetabuloplasty from 2004 to 2010 and followed up > 4 years (88% of the cohort) with early historic controls treated with delayed open reduction alone. Of 53 patients available for matching, 45 (85%) had enough followup (> 10 years) to be considered. They were matched one to one for age at presentation and bilaterality (fuzz 45, 0). This generated a control group of 25 patients (27 hips). The mean followup was different between the groups (p dysplasia considered when center-edge angle 30° and pelvic osteotomies were used as our primary outcomes. The proportion of patients with AVN was also compared. Patients treated with open reduction and an incomplete periacetabular acetabuloplasty were less likely to develop acetabular dysplasia and undergo pelvic osteotomies than were patients in the control group (0% [zero of 27] versus 37% [10 of 27]; odds ratio [OR], 11; 95% confidence interval [CI], 2-80; p = 0.02 and 0% [zero of 27] versus 26% [seven of 27]; OR, 8; 95% CI, 1-60; p = 0.025, respectively). With the available numbers, there was no difference in terms of the proportion of patients who developed AVN (11 of 27 [41%] both groups; OR, 1; 95% CI, 1-2; p = 1). The addition of an

  6. CANINE IMPACTIONS: AN ORTHODONTIST’S PERSPECTIVE

    Directory of Open Access Journals (Sweden)

    Harikrishna

    2014-11-01

    Full Text Available : Impacted teeth are those which are not predictable and do not erupt absolutely based on clinical and radiographic assessment. Certain impactions can be complicated and the outcome unpredictable if the tooth is positioned unfavourably either horizontally or vertically in the alveolar bone. Presence of canines buccally, palatally or lingually can be seen using various diagnostic methods. Factors that interfere with its development and eruption have influence on aesthetics’, function and stability. A detailed understanding of the management of impacted teeth is essential for a stable and aesthetic result. So, we put forth the most common procedures which can be carried out by general dentists in managing impacted maxillary canines.

  7. Medical Treatment of Primary Canine Glaucoma.

    Science.gov (United States)

    Alario, Anthony F; Strong, Travis D; Pizzirani, Stefano

    2015-11-01

    Glaucoma is a painful and often blinding group of ocular diseases for which there is no cure. Although the definition of glaucoma is rapidly evolving, elevated intraocular pressure (IOP) remains the most consistent risk factor of glaucoma in the canine patient. Therapy should be aimed at neuroprotection. The mainstay of therapy focuses on reducing IOP and maintaining a visual and comfortable eye. This article discusses the most current ocular hypotensive agents, focusing on their basic pharmacology, efficacy at lowering IOP, and recommended use in the treatment of idiopathic canine glaucoma.

  8. A Study of Transmigrated Canine in an Indian Population.

    Science.gov (United States)

    Sharma, Gaurav; Nagpal, Archna

    2014-01-01

    Aim. The purpose of this study was to investigate the prevalence of transmigrated canines in a north Indian population and association with gender, side, associated pathologies, and dental anomalies. Subjects and methods. The prospective study consisted of panoramic radiographs of 3000 patients from two dental colleges in north India. The panoramic radiographs were screened for radiographically identified position of the transmigrated tooth, retained canine, and other coexisting dental anomalies. Results. The overall prevalence of transmigrated canines (15 mandibular and 5 maxillary) was 0.66%. The prevalence of mandibular transmigrated canine was 0.5% and maxillary transmigrated canine was 0.16%. All the transmigrated canines were unilateral. The age range was 15-53 years (average age 24.1 years) and there were 12 males (60%) and 8 females (40%). Type 1 mandibular canine transmigration was the commonest type found in our study (10 cases), followed by types 2 and 4 (2 cases each) and 1 case of type 5 transmigration. Conclusion. The prevalence of transmigrated canines in the north Indian population was 0.66% and no gender predilection was evident. The transmigrated canines have a low complication rate (10.0%) and no correlation with other dental anomalies was found. Type 3 canine is the rarest form of mandibular canine transmigration.

  9. A Study of Transmigrated Canine in an Indian Population

    Science.gov (United States)

    Sharma, Gaurav; Nagpal, Archna

    2014-01-01

    Aim. The purpose of this study was to investigate the prevalence of transmigrated canines in a north Indian population and association with gender, side, associated pathologies, and dental anomalies. Subjects and methods. The prospective study consisted of panoramic radiographs of 3000 patients from two dental colleges in north India. The panoramic radiographs were screened for radiographically identified position of the transmigrated tooth, retained canine, and other coexisting dental anomalies. Results. The overall prevalence of transmigrated canines (15 mandibular and 5 maxillary) was 0.66%. The prevalence of mandibular transmigrated canine was 0.5% and maxillary transmigrated canine was 0.16%. All the transmigrated canines were unilateral. The age range was 15–53 years (average age 24.1 years) and there were 12 males (60%) and 8 females (40%). Type 1 mandibular canine transmigration was the commonest type found in our study (10 cases), followed by types 2 and 4 (2 cases each) and 1 case of type 5 transmigration. Conclusion. The prevalence of transmigrated canines in the north Indian population was 0.66% and no gender predilection was evident. The transmigrated canines have a low complication rate (10.0%) and no correlation with other dental anomalies was found. Type 3 canine is the rarest form of mandibular canine transmigration. PMID:27433532

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

    Directory of Open Access Journals (Sweden)

    Moumita Ghosh

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

  11. Complications and short-term patient outcomes of periacetabular osteotomy for symptomatic mild hip dysplasia.

    Science.gov (United States)

    Ricciardi, Benjamin F; Fields, Kara G; Wentzel, Catherine; Nawabi, Danyal H; Kelly, Bryan T; Sink, Ernest L

    2017-02-21

    The purpose of our study is to identify complications and early functional outcome scores in patients treated with periacetabular osteotomy (PAO) for mild acetabular dysplasia. The study population consisted of patients from a single centre prospective hip registry undergoing PAO with mild acetabular dysplasia (LCEA ≥18° and ≤25°; n = 27 patients; Mild Dysplasia group). A comparison group of patients undergoing PAO with more severe acetabular dysplasia (lateral centre-edge angle [LCEA] ≤17°; n = 50 patients; Severe Dysplasia group) were included as a comparison cohort. Demographics, radiographic findings, complications, and functional outcome scores were recorded at 6 months, 1 year, and 2 years postoperatively (mean 15 months [range 6-30]). Demographic characteristics were similar in patients with mild dysplasia undergoing PAO compared with more severe dysplasia. Achievement of radiological correction and complication rates were not different between the 2 groups. Functional outcome scores showed similar improvements in modified Harris Hip Score (mHHS), hip outcome score (HOS) activities of daily living (ADL), HOS Sport, and the international Hip Outcome Tool-33 (iHOT-33) at all time points between the 2 groups with over 90% of patients in the mild dysplasia group achieving a minimum important change (MIC) in functional outcome scores at final follow-up. Patients with symptomatic mild acetabular dysplasia undergoing PAO have similar complication rates and functional outcomes as a cohort of patients with more severe dysplasia.

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

    Science.gov (United States)

    El Jashi, Rima; Gustafson, Maria B; Jakobsen, Mette B; Lautrup, Charlotte; Hertz, Jens M; Søballe, Kjeld; Mechlenburg, Inger

    2017-05-12

    The development of hip dysplasia is associated with several risk factors. 1 of these risk factors is gender, since 80% of patients with symptomatic hip dysplasia are females. Another risk factor for hip dysplasia is familial predisposition of hip dysplasia. Several studies indicate that the risk of hip dysplasia is increased with familial prevalence of hip dysplasia. However, little is known about the association between the familial prevalence and gender and the development of hip dysplasia. The aim of the study was to estimate the prevalence of hip dysplasia among relatives to Danish patients with hip dysplasia operated with periacetabular osteotomy (PAO), and the degree of relationship of affected family members. Furthermore, to assess the association between gender and family predisposition in the same group of patients. The study is a cross-sectional study, with a descriptive and an analytical part. The study population consists of 676 patients drawn from a clinical database of patients operated with PAO at Aarhus University hospital from 1998 to 2014. Information about gender, operated hip side and age was collected from the clinical PAO database, while information about familial prevalence was collected through questionnaires. The association between gender and familial prevalence of hip dysplasia was presented as the prevalence proportions ratio (PPR), tested by χ2 test. Stratification was conducted for the variables age and operated hip side, with the Mantel-Haenszels analytical method, and tested for statistical significance by χ2. The familial prevalence of hip dysplasia in the study population was 30% (95% CI, 27%-34%), with 73% reporting affected first-degree relatives. Females have 32% increased risk of familial prevalence of hip dysplasia compared to males, but this difference in risk was not statistically significant (p = 0.10). The study shows that females have 32% increased familial prevalence of hip dysplasia compared to males, but the

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

    Science.gov (United States)

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

    2017-01-01

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

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

    Science.gov (United States)

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

    2009-01-01

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

  15. 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.

  16. Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10.

    Directory of Open Access Journals (Sweden)

    Kaisa Kyöstilä

    Full Text Available The skeletal dysplasias are disorders of the bone and cartilage tissues. Similarly to humans, several dog breeds have been reported to suffer from different types of genetic skeletal disorders. We have studied the molecular genetic background of an autosomal recessive chondrodysplasia that affects the Norwegian Elkhound and Karelian Bear Dog breeds. The affected dogs suffer from disproportionate short stature dwarfism of varying severity. Through a genome-wide approach, we mapped the chondrodysplasia locus to a 2-Mb region on canine chromosome 17 in nine affected and nine healthy Elkhounds (praw = 7.42×10(-6, pgenome-wide = 0.013. The associated locus contained a promising candidate gene, cartilage specific integrin alpha 10 (ITGA10, and mutation screening of its 30 exons revealed a nonsense mutation in exon 16 (c.2083C>T; p.Arg695* that segregated fully with the disease in both breeds (p = 2.5×10(-23. A 24% mutation carrier frequency was indicated in NEs and an 8% frequency in KBDs. The ITGA10 gene product, integrin receptor α10-subunit combines into a collagen-binding α10β1 integrin receptor, which is expressed in cartilage chondrocytes and mediates chondrocyte-matrix interactions during endochondral ossification. As a consequence of the nonsense mutation, the α10-protein was not detected in the affected cartilage tissue. The canine phenotype highlights the importance of the α10β1 integrin in bone growth, and the large animal model could be utilized to further delineate its specific functions. Finally, this study revealed a candidate gene for human chondrodysplasias and enabled the development of a genetic test for breeding purposes to eradicate the disease from the two dog breeds.

  17. Cardiac involvement in canine babesiosis : review article

    Directory of Open Access Journals (Sweden)

    R.G. Lobetti

    2005-06-01

    Full Text Available Cardiac dysfunction in canine babesiosis has traditionally been regarded as a rare complication, with the majority of lesions reported as incidental findings at post-mortem examination. Recent studies have, however, demonstrated cardiac lesions in canine babesiosis. Cardiac troponins, especially troponin I, are sensitive markers of myocardial injury in canine babesiosis, and the magnitude of elevation of plasma troponin I concentrations appears to be proportional to the severity of the disease. ECG changes in babesiosis are similar to the pattern described for myocarditis and myocardial ischaemia and together with histopathological findings indicate that the heart suffers from the same pathological processes described in other organs in canine babesiosis, namely inflammation and hypoxia. The clinical application of the ECG appears to be limited and thus cardiovascular assessment should be based on functional monitoring rather than an ECG tracing. On cardiac histopathology from dogs that succumbed to babesiosis, haemorrhage, necrosis, inflammation and fibrin microthrombi in the myocardium were documented, all of which would have resulted in ECG changes and elevations in cardiac troponin. Myocardial damage causes left ventricular failure, which will result in hypotension and an expansion of the plasma volume due to homeostatic mechanisms.

  18. Canine distemper outbreak in rhesus monkeys, China.

    Science.gov (United States)

    Qiu, Wei; Zheng, Ying; Zhang, Shoufeng; Fan, Quanshui; Liu, Hua; Zhang, Fuqiang; Wang, Wei; Liao, Guoyang; Hu, Rongliang

    2011-08-01

    Since 2006, canine distemper outbreaks have occurred in rhesus monkeys at a breeding farm in Guangxi, People's Republic of China. Approximately 10,000 animals were infected (25%-60% disease incidence); 5%-30% of infected animals died. The epidemic was controlled by vaccination. Amino acid sequence analysis of the virus indicated a unique strain.

  19. Medical dissolution of canine struvite uroliths.

    Science.gov (United States)

    Osborne, C A; Polzin, D J; Kruger, J M; Abdullahi, S U; Leininger, J R; Griffith, D P

    1986-03-01

    Medical therapy is an effective method of canine struvite urolith dissolution. Recommendations include (1) eradication or control of urinary tract infection (if present), (2) use of calculolytic diets, and (3) administration of urease inhibitors to patients with persistent urinary tract infection caused by urease-producing microbes.

  20. Canine notoedric mange: a case report.

    Science.gov (United States)

    Leone, Federico

    2007-04-01

    Notoedric mange is a cutaneous ectoparasitic disease of cats caused by Notoedres cati, a mite belonging to the Sarcoptidae family. The disease occurs in felids, occasionally in other mammals and in humans. The canine form, even if cited by some authors, has never been documented. This report describes for the first time a case of notoedric mange in a dog.

  1. Efficacy of Scabisol against Canine Demodecosis

    Directory of Open Access Journals (Sweden)

    A.M. Bodkhe

    Full Text Available In the present study scabisol containing precipitated sulphur was tried in 10 dogs suffering from Canine demodecosis. The improvement was observed within 72 hours of treatment, and complete recovery was noticed after three consecutive treatments. [Veterinary World 2008; 1(7.000: 211-211

  2. Canine specific ELISA for coagulation factor VII

    DEFF Research Database (Denmark)

    Knudsen, Tom; Kjelgaard-Hansen, Mads; Tranholm, Mikael;

    2011-01-01

    available to date. In this study, a canine specific ELISA for measurement of FVII:Ag in plasma was developed and validated. The FVII:Ag ELISA correctly diagnosed homozygous and heterozygous hereditary FVII deficiency. Together with activity based assays, such as FVII:C, the FVII:Ag ELISA should be valuable...

  3. Potential economic benefits of eliminating canine rabies.

    Science.gov (United States)

    Shwiff, Stephanie; Hampson, Katie; Anderson, Aaron

    2013-05-01

    Although canine rabies has been eliminated from industrialized countries, infected dogs remain the primary source of human and livestock exposures in Asia, Africa and much of South America. Human deaths are the most important direct economic impact of canine rabies, followed by livestock losses and the cost of PEP, while expenses associated with dog vaccination and control are major indirect impacts. The global burden of rabies disproportionately affects Asia, which experiences more than half of human rabies deaths and approximately 65% of livestock losses, and performs more than 90% of postexposure prophylaxis (PEP). Africa is second to Asia in terms of human deaths and livestock losses, but administers the least number of PEPs of the three regions. Recent experience in Latin America shows that efforts to reduce human deaths from rabies through expanded dog vaccination and improved access to PEP result in significant monetary savings. The elimination of canine rabies would lead to major economic benefits in developing countries that are often the least capable of dealing with the disease. This article forms part of a symposium in Antiviral Research on the elimination of canine rabies. Published by Elsevier B.V.

  4. Immune-mediated canine and feline keratitis.

    Science.gov (United States)

    Andrew, Stacy E

    2008-03-01

    Although the normal cornea is devoid of vasculature and lymphatics, there are still several immune-mediated corneal conditions that can occur in dogs and cats. An overview of corneal immunology is presented. Diseases of dogs, including chronic superficial keratitis, superficial punctate keratitis, and canine adenovirus endotheliitis, as well as feline diseases, including eosinophilic keratitis and herpesvirus-related conditions, are discussed.

  5. Canine retraction with J hook headgear.

    Science.gov (United States)

    Ayala Perez, C; de Alba, J A; Caputo, A A; Chaconas, S J

    1980-11-01

    Several methods have been described for accomplishing distal movement of canines without losing posterior anchorage. An accepted method in canine retraction is the use of headgear with J hooks. Since it incorporates extraoral anchorage, it is most effective in maximum-anchorage cases. It was the purpose of this study to analyze the distribution of force transmitted to the alveolus and surrounding structures by means of photoelastic visualization, utilizing J hook headgear for maxillary canine retraction. A three-dimensional model representing a human skull was used. This model was constructed with different birefringent materials to simulate bone, teeth, and periodontal membranes. Three different vectors of force were applied representing high-, medium-, and low-pull headgear, which were placed at angles of 40, 20, and 0 degrees to the occlusal plane. The photoelastic analysis was made by means of a circular-transmission polariscope arrangement, and the photoelastic data were recorded photographically. The stress areas created by the three different vectors of force were associated with various degrees of canine tipping. This effect was greater with the low-pull force component than with the medium-pull traction. The high-pull headgear produced the least tipping tendency, being closer to a bodily movemment effect. Further, stresses were transmitted to deeper structures of the simulated facial bones; these regions were the frontozygomatic, zygomaticomaxillary, and zygomaticotemporal sutures.

  6. A novel bocavirus in canine liver

    Directory of Open Access Journals (Sweden)

    Li Linlin

    2013-02-01

    Full Text Available Abstract Background Bocaviruses are classified as a genus within the Parvoviridae family of single-stranded DNA viruses and are pathogenic in some mammalian species. Two species have been previously reported in dogs, minute virus of canines (MVC, associated with neonatal diseases and fertility disorders; and Canine bocavirus (CBoV, associated with respiratory disease. Findings In this study using deep sequencing of enriched viral particles from the liver of a dog with severe hemorrhagic gastroenteritis, necrotizing vasculitis, granulomatous lymphadenitis and anuric renal failure, we identified and characterized a novel bocavirus we named Canine bocavirus 3 (CnBoV3. The three major ORFs of CnBoV3 (NS1, NP1 and VP1 shared less than 60% aa identity with those of other bocaviruses qualifying it as a novel species based on ICTV criteria. Inverse PCR showed the presence of concatemerized or circular forms of the genome in liver. Conclusions We genetically characterized a bocavirus in a dog liver that is highly distinct from prior canine bocaviruses found in respiratory and fecal samples. Its role in this animal’s complex disease remains to be determined.

  7. Kissing mandibular canines: Serendipity at its best

    Directory of Open Access Journals (Sweden)

    Sonali Sharma

    2014-01-01

    Full Text Available Transmigration of teeth is a relatively less well known phenomenon. Its etiology is not so well understood. We present a case of bilateral transmigration of mandibular canines with a type 5 classification pattern (Muparappu in a 21 year old male patient with emphasis on its etiology and complications accompanying its management.

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

    Science.gov (United States)

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

    2015-12-01

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

  9. Squamous cell dysplasia and carcinoma of the conjunctiva

    DEFF Research Database (Denmark)

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

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Komang Agung Irianto

    2016-11-01

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

  11. Automated measurement of diagnostic angles for hip dysplasia

    DEFF Research Database (Denmark)

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

    2013-01-01

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

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

    Science.gov (United States)

    Koçak, H; Ceylaner, G

    2009-01-01

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

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

    Science.gov (United States)

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

    2010-03-01

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

  14. Trochlear dysplasia and patellar instability in patients with Down syndrome

    Directory of Open Access Journals (Sweden)

    Tiago Amaral Rebouças Moreira

    2015-04-01

    Full Text Available OBJECTIVE: To analyze occurrences of trochlear dysplasia in patients with Down syndrome in the presence and absence of femoropatellar instability.METHODS: Eleven knees with stable patellae and thirteen with unstable patellae in patients with Down syndrome were compared. Radiographs were produced to evaluate patellar height, trochlear angle and femoropatellar congruence angle.RESULTS: The prevalence ratio for a high patella between the unstable and the stable patients was 1.01 using the Insall-Salvati index and 0.68 using the Caton-Deschamps index. For an abnormal congruence angle, the prevalence ratio was 2.04. An increased congruence angle was only found in four cases, all presenting instability.CONCLUSIONS: Trochlear dysplasia was only found in cases of instability. The trochlear groove angle and the femoropatellar congruence angle correlated with the presence of patellar instability.

  15. Neonatal orchitis mimicking cystic dysplasia of the testis.

    Science.gov (United States)

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

    2010-12-01

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

  16. Shoulder dysplasia in koalas (Phascolarctos cinereus) at San Diego Zoo.

    Science.gov (United States)

    Pye, Geoffrey W

    2009-09-01

    A radiographic study documented shoulder dysplasia (n = 43), with varying degrees of malformation of the supraglenoid and infraglenoid tubercles and the coracoid process, shallowing or loss of the glenoid cavity, flattening or loss of the humeral head, malformation of the greater and lesser tubercles, loss of the intertubercle groove, and humeral diaphyseal abnormalities, in northern koalas (Phascolarctos cinereus) in the San Diego Zoo (San Diego, California, USA) colony. Retrospectively, historic radiographs (n = 38) were examined where available. Prospectively, three standard views (lateral extended arm, ventrodorsal cranially positioned arms, and ventrodorsal caudally positioned arms) were imaged (n = 25). In all radiographs, shoulders were graded as normal, or mildly, moderately, or severely dysplastic. Although affected koalas typically do not exhibit clinical signs, degenerative joint disease may develop and clinical signs treated with nonsteroidal anti-inflammatory drugs. Where shoulder and hip radiographs were both available (n = 60), 92% of individuals had correlation between the degree of shoulder and hip dysplasia.

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

    Directory of Open Access Journals (Sweden)

    Bahtiyar Polat

    2015-09-01

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

  18. Curved planar reconstruction of MR images in focal cortical dysplasia of the brain

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Gyung Ho; Lee, Sang Yong; Kim, Chong So; Kim, Young Kon; Lee, Young Hwan; Jeong, Su Hyun [Medical School of Chonbuk National Univ., Chonju (Korea, Republic of)

    2002-06-01

    To describe curved planar reconstruction imaging (CPR) and determine its usefulness in the evaluation of focal cortical dysplasia of the brain. In 17 cases of focal cortical dysplasia (cortical dysplasia (n=9)), schizencephaly (n=5), and heterotopia (n=3), CPR images were created using a multiplanar reconstruction program and imaging data obtained during T1 magnetization prepared rapid acquisition gradient-echo MR imaging. We assessed the precise configuration of abnormalities and their relation to adjacent gyri and sulci. CPRI showed the brain cortex as a 2D panoramic image, demonstrating the precise configurations and locations of dysplasia-associated abnormalities and their relation to adjacent gyri and sulci, and the precise shape of the gray-white matter interface. CPRI can provide important radiological information about the extension and configuration of focal cortical dysplasia, and its relation to neighboring cortical structures. We believe that CPRI should form an essential part of the routine investigation os suspected cases of focal cortical dysplasia.

  19. Deciduous canine and permanent lateral incisor differential root resorption.

    Science.gov (United States)

    Davies, K R; Schneider, G B; Southard, T E; Hillis, S L; Wertz, P W; Finkelstein, M; Hogan, M M

    2001-10-01

    When a permanent maxillary canine erupts apical to the permanent lateral incisor and the deciduous canine, resorption typically takes place only on the deciduous canine root. An understanding of this differential resorption could provide insight into the reasons for excessive iatrogenic root resorption during orthodontic tooth movement. The purpose of the present study was to examine the response of roots of permanent lateral incisors and deciduous canines to simulated resorption, and to acid and enzyme attack, reflecting the physiologic environment of an erupting permanent canine. Groups of maxillary permanent lateral incisor and deciduous canine roots were exposed to 5 combinations of Ten Cate demineralizing solution, Ten Cate demineralizing solution with EDTA, and a Type I collagenase solution. Sections of the roots were examined under a polarized light microscope. Analysis of variation of the resulting root lesions demonstrated that the lesion depths for deciduous canines were greater than those for permanent lateral incisors when averaged across 4 of the conditions (F(1,24) = 7.49, P =.0115). On average, deciduous canine roots demonstrated lesions 10% deeper than did permanent lateral incisor roots. We concluded that when deciduous canine and permanent lateral incisor roots are subjected to acid and enzyme attack, reflecting the physiologic environment of an erupting permanent canine, significantly deeper demineralized lesions are seen in the deciduous roots compared with the permanent roots. This finding may partially explain the differential root resorption during permanent tooth eruption.

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

    Directory of Open Access Journals (Sweden)

    Vishnu Priya

    2013-01-01

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

  1. Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia

    DEFF Research Database (Denmark)

    Hermann, NV; Hove, HD; Jørgensen, C

    2009-01-01

    A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried...... in the calvarial midline and missing nasal bones, are easily recognizable using 3D ultrasound as early as in week 15. Copyright (C) 2009 S. Karger AG, Basel....

  2. Frontal Lobe Lipoma Associated with Cortical Dysplasia and Abnormal Vasculature

    Science.gov (United States)

    Baskan, Ozdil; Geyik, Serdar

    2014-01-01

    Summary Intracranial lipomas (ICLs) are rare lesions, the vast majority encountered as incidental findings on imaging studies. ICLs are generally pericallosal midline lesions and thought to be asymptomatic and can be accompanied by additional intracranial congenital malformations. We describe a 17-year old male with an unusual case of ICL on the frontal lobe associated with cortical dysplasia and abnormal vasculature mimicking arteriovenous malformation on magnetic resonance images. PMID:25489889

  3. Florid cemento osseous dysplasia in association with dentigerous cyst.

    Science.gov (United States)

    Sanjai, Karpagaselvi; Kumarswamy, Jayalakshmi; Kumar, Vinod K; Patil, Archana

    2010-07-01

    We present a case of florid cemento-osseous dysplasia occurring in a 20-year-old Indian woman. The subject presented with three lesions involving the maxillary right quadrant, maxillary left quadrant and mandibular left quadrant. The mandibular left quadrant also demonstrated a cyst.The diagnosis was made by correlating the clinical presentation with that of the radiological and histopathological findings. This is a rare entity because of an unusual combination of Asian race along with the association of dentigerous cyst.

  4. AN UNUSUAL CASE OF ASYMPTOMATIC APLASTIC RENAL DYSPLASIA

    Institute of Scientific and Technical Information of China (English)

    LouisTsun-CheungChow; Wing-HingChow

    1995-01-01

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

  5. Keratoconus as a manifestation of connective tissue dysplasia

    Directory of Open Access Journals (Sweden)

    M. M. Bikbov

    2015-01-01

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

  6. MR demonstration of septal involvement in arrhythmogenic right ventricular dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Malhaire, Caroline; Rahmouni, Alain [Centre Hospitalo-Universitaire Henri Mondor, Service de Radiologie et d' Imagerie Medicale, Creteil Cedex (France); Garot, Jerome [Centre Hospitalo-Universitaire Henri Mondor, Service de Cardiologie, Creteil Cedex (France)

    2005-05-01

    Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disease of unknown origin. Although MR imaging is regarded as the best technique for the demonstration of functional and structural abnormalities in ARVD, fat deposits in the interventricular septum have never been documented on MR imaging. We report the case of interventricular septal fatty deposition demonstrated by fat-suppressed MR imaging in a 48-year-old man. (orig.)

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

    Science.gov (United States)

    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, was compared with walking and running in 32 controls, mean 33 (18–54) years old. Joint kinematics and kinetics—quantified by the peak hip extension angle and the peak net joint moment of hip flexion during walking and running—were recorded using a motion-capture system, and health was evaluated using the Copenhagen Hip and Groin Outcome Score (HAGOS). Results The peak hip extension angle during walking was less in the patients than in the controls (–10.4 (SD 4.8) degrees vs. –13.2 (SD 4.5) degrees; p = 0.02). Similarly, the peak net joint moment of hip flexion during walking was lower in the patients than in the controls (0.57 (SD 0.13) N*m/kg vs. 0.70 (SD 0.22) N*m/kg; p = 0.008). In all dimensions of HAGOS, the patients scored lower than the controls. Furthermore, the hip extension angle and the net joint moment of hip flexion correlated with the HAGOS subscales pain and physical function in sport and recreation. Interpretation Patients with symptomatic hip dysplasia do modify walking and running, and we therefore suggest that the impairment found in this study should play an important role in the evaluation of later operative and training interventions. PMID:23594221

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

    Science.gov (United States)

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

    2017-02-01

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

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

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

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

  10. Hip arthroscopy in the setting of hip dysplasia: A systematic review.

    Science.gov (United States)

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

    2016-06-01

    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. 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. 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. 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. © 2016 Ayeni et al.

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

    Science.gov (United States)

    2007-12-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2008-12-15

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

  13. [Poliostotic fibrous dysplasia with affectation of cervical rachis].

    Science.gov (United States)

    Lumbreras, Ruth; Aznar, Jose María; Castro, Angel; Modrego, Francisco Javier; Ballester, Juan José; Espallargas, Teresa

    2007-01-01

    The fibrous dysplasia is a benign although progressive dysfunction, in which a gene mutation originates the production of fibrous disorganized bony matrix. The bony tissue is replaced by bony tissue in expansion (amorph conjuntival tissue) that produces bony deformities in some patients, pain, pathological fractures or deambulation disorders. The diagnosis is important since ocasionally the first symptom is the fracture. We show up the case of a 21 year-old patient with pain clinic in high cervical region. The complementary tests (radiology, bone scintigrraphy and MRI) and anatomo-pathology confirmed the diagnosis of polyostotic fibrous dysplasia with cranial (occipital, esfenoides and right frontal and temporal bone), iliac, femoral, tibial and cervical (apophysis of C2) affectation. Our attitude was of carrying out a narrow observation by means of periodical strict controls, advising to avoid hard activities or contact sports. To the five years the patient is free of symptomatology. Radiologically the injuries have been stabilized. The fibrous dysplasia can affect to a single bone (monostotic) or to several (polyostotic). In occasions it is associated to endocrine dysfunctions and skin pigmentations in McCune-Albright's syndrome. We confront a pathology that specifies an anatomo-pathologic diagnosis to be confirmed, an extension diagnosis to detect asymptomatic focuses and whose treatment is symptomatic in most of the cases only using surgery in frank deformities or when the fracture risk is considerable, although the recurrence is frequent. The malignization is exceptional but possible that's why continuous observation is needed. The radiation therapy is radically contraindicated.

  14. The different appearance of the oculodentodigital dysplasia syndrome.

    Science.gov (United States)

    Thomsen, M; Schneider, U; Weber, M; Niethard, F U

    1998-01-01

    We report on two families with the oculodentodigital (ODD) dysplasia syndrome, also called Meyer-Schwickerath syndrome. It represents a rare disorder characterized by eye and facial abnormalities causing a unique facial appearance. The phenotype of the young patients resembles those of identical twins. We found syndactyly mostly at the hands and, additionally, characteristic phalangeal aberrations, defects in teeth enamel, and trichosis. In the one family, the ODD dysplasia syndrome seemingly originated in a new mutation. The affected child was treated surgically in our clinic (syndactyly separation). In the other family, three patients (grandmother, mother, and granddaughter) were subjects of syndactyly separation. The aim of our surgeries was to separate the webbed fingers so there would be a normal spread and to improve the function and appearance of fingers. The ODD dysplasia syndrome correlates with the Hallermann-Streiff syndrome, or oculomandibulodyscephaly, which is characterized by a typical skull shape (brachicephaly with frontal brossing), a bird-like face, and eye abnormalities (congenital cataracts and microphthalmia).

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

    Science.gov (United States)

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

    We present a case of cleidocranial dysplasia diagnosed by low-dose fetal computed tomography (CT) in the 25th week of gestation. Severe bone dysplasia was suspected because of the fetus' low percentile in long bones length and the appearance of craniosynostosis on sonography. CT found no abnormalities incompatible with life. The effective dose was 5 mSv, within the recommended range for this type of examination. Low-dose fetal CT is a new technique that makes precision study of the bony structures possible from the second trimester of pregnancy. In Spain, abortion is legal even after the 22nd week of gestation in cases of severe fetal malformations. Therefore, in cases in which severe bone dysplasia is suspected, radiologists must know the strategies for reducing the dose of radiation while maintaining sufficient diagnostic quality, and they must also know which bony structures to evaluate. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  16. Transgenic cyclin E triggers dysplasia and multiple pulmonary adenocarcinomas.

    Science.gov (United States)

    Ma, Yan; Fiering, Steven; Black, Candice; Liu, Xi; Yuan, Ziqiang; Memoli, Vincent A; Robbins, David J; Bentley, Heather A; Tsongalis, Gregory J; Demidenko, Eugene; Freemantle, Sarah J; Dmitrovsky, Ethan

    2007-03-06

    Cyclin E is a critical G(1)-S cell cycle regulator aberrantly expressed in bronchial premalignancy and lung cancer. Cyclin E expression negatively affects lung cancer prognosis. Its role in lung carcinogenesis was explored. Retroviral cyclin E transduction promoted pulmonary epithelial cell growth, and small interfering RNA targeting of cyclin E repressed this growth. Murine transgenic lines were engineered to mimic aberrant cyclin E expression in the lung. Wild-type and proteasome degradation-resistant human cyclin E transgenic lines were independently driven by the human surfactant C (SP-C) promoter. Chromosome instability (CIN), pulmonary dysplasia, sonic hedgehog (Shh) pathway activation, adenocarcinomas, and metastases occurred. Notably, high expression of degradation-resistant cyclin E frequently caused dysplasia and multiple lung adenocarcinomas. Thus, recapitulation of aberrant cyclin E expression as seen in human premalignant and malignant lung lesions reproduces in the mouse frequent features of lung carcinogenesis, including CIN, Shh pathway activation, dysplasia, single or multiple lung cancers, or presence of metastases. This article reports unique mouse lung cancer models that replicate many carcinogenic changes found in patients. These models provide insights into the carcinogenesis process and implicate cyclin E as a therapeutic target in the lung.

  17. Survivin expression in canine epidermis and in canine and human cutaneous squamous cell carcinomas.

    Science.gov (United States)

    Bongiovanni, Laura; Colombi, Isabella; Fortunato, Carmine; Della Salda, Leonardo

    2009-10-01

    Survivin, a member of the inhibitor of apoptosis protein (IAP) family, is ubiquitously expressed during tissue development, undetectable in most normal tissues, but re-expressed in most cancers, including skin malignancies. Expression of survivin was evaluated retrospectively in 19 canine cutaneous squamous cell carcinomas (SCCs; one in situ; 16 well differentiated; one invasive, one lymph node metastasis) and 19 well differentiated SCCs from human beings. Seven specimens of normal canine skin were included. Immunohistochemical expression of full-length survivin was determined using a commercially available antibody. In addition, apoptotic rate [Terminal deoxynucleotidyl Transferase Biotin-dUTP Nick End Labelling index (TUNEL) index] and mitotic index (MI), counting mitoses in 10 high power fields (HPF), were determined. Scattered survivin positive nuclei were identified in the epidermal basal cell layer of normal canine skin. Nuclear survivin expression was identified in 18 of 19 human and in all canine SCCs, mainly along the base of the tumour cell population. Cytoplasmic survivin expression was rarely observed in human SCCs and in 84.2% of canine SCCs. The TUNEL index ranged from 0.1 to 2.6 in human beings and from 7.5 to 69.4 in dogs, while MIs ranged from 0 to 4 in human beings and dogs. No correlation was found between survivin expression and apoptotic or mitotic rates. Canine and human tumours showed similar nuclear survivin expression, indicating similar functions of the molecule. We demonstrated survivin expression in normal adult canine epidermis. Increased nuclear survivin expression in pre-neoplastic and neoplastic lesions demonstrates a possible association of survivin with development of SCCs in human beings and dogs.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1998-02-15

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

  19. Evaluation of lymphatic dysplasia in patients with congenital pleural effusion and ascites using indocyanine green lymphography.

    Science.gov (United States)

    Shibasaki, Jun; Hara, Hisako; Mihara, Makoto; Adachi, Shinya; Uchida, Yasushi; Itani, Yasufumi

    2014-05-01

    To investigate the use of indocyanine green (ICG) lymphography in the diagnosis and assessment of the severity of lymphatic dysfunction in infants and neonates with congenital lymphatic pleural effusion and ascites. We performed ICG lymphography on 10 neonates and infants with congenital lymphatic pleural effusion and ascites. After the subcutaneous injection of ICG, circumferential fluorescent images of lymphatic drainage channels in the extremities and trunk were identified using an infrared camera system. The lymphographic findings were classifiable into 2 patterns-those showing a linear lymphatic pattern, suggesting normal lymphatic flow, and those showing lymphatic channels with retrograde lymphatic flow (dermal backflow pattern), suggesting an abnormal lymphatic flow. We analyzed the severity of the ICG lymphography findings and the clinical outcomes. Based on the ICG lymphography, the severity of lymphatic dysplasia were classified into 4 categories: mild dysplasia, moderate dysplasia, severe dysplasia, and lymphatic hypoplasia. All cases diagnosed with mild (n = 3) or moderate dysplasia (n = 2) survived, and 2 of the 4 cases diagnosed with severe dysplasia died. The duration of endotracheal intubation ranged from 1 to 17 days (median, 7) in the patients with mild or moderate dysplasia and from 25 to 110 days (median, 77) in those with severe dysplasia. The ICG lymphographic findings were consistent with the clinical conditions. This imaging technique may be important to the future clinical management of lymphatic dysplasia in neonates and infants. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. A clinical comparative study of anatomic parameters before and after total hip replacement on congenital dysplasia

    National Research Council Canada - National Science Library

    Huang, Ziqiang; Zhou, Yonggang; Chai, Wei; Ji, Weiping; Cui, Guopeng; Ma, Miaoqun; Zhu, Yin

    2016-01-01

    [Purpose] To study preoperative and postoperative hip circumference data of varioustypes of congenital dysplasia of the hip treated with total hip replacement, including thefemoral offset, femoral neck length...

  1. Surgical treatment for young adult hip dysplasia: joint-preserving options

    National Research Council Canada - National Science Library

    Chen, Min; Shang, Xi-Fu

    2016-01-01

    Developmental dysplasia of the hip (DDH) is a spectrum of disorders that results in anatomic abnormalities leading to increased contact stress in the joint and, eventually, secondary osteoarthritis...

  2. Epidermal nevus syndrome associated with polyostotic fibrous dysplasia, CNS lipoma, and aplasia cutis

    National Research Council Canada - National Science Library

    Cabanillas, Miguel; Aneiros, Angel; Monteagudo, Benigno; Santos-García, Diego; Suárez-Amor, Oscar; Ramírez-Santos, Aquilina

    2009-01-01

    ... and urogenital systems. We describe a patient with an extensive epidermal nevus associated with various organ abnormalities, particularly polyostotic fibrous dysplasia, central nervous system lipoma, and aplasia cutis...

  3. Developmental dysplasia of the hip in neonates: evolution of acetabular dysplasia after hip stabilization by brief Pavlik harness treatment.

    Science.gov (United States)

    Bin, K; Laville, J-M; Salmeron, F

    2014-06-01

    The recommended treatment duration in neonates with developmental dysplasia of the hip (DDH) varies depending on whether prolonged Pavlik harness therapy is believed to favourably affect the course of the acetabular dysplasia. According to one theory, several months of additional Pavlik harness therapy after achieving hip reduction contributes to correct the acetabular dysplasia. Another theory holds that hip dislocation induces the acetabular dysplasia, which corrects spontaneously once the femoral head is properly seated in the acetabulum. Here, we evaluated this second theory by studying outcomes after early brief Pavlik harness therapy. Acetabular dysplasia associated with neonatal hip instability undergoes self-correction provided stable hip reduction is achieved very early after birth. Therefore, the duration of Pavlik harness therapy can be substantially shortened. We defined hip instability as either reducible hip dislocation or a very easily dislocatable hip with a soft clunk precluding determination of spontaneous hip position as dislocated or reduced. Static and dynamic ultrasound scans were obtained. Patients with ultrasonographic instability (pubo-femoral distance>5mm with less than 50% of coverage) underwent a second physical examination and received treatment. We re-evaluated 42 abnormal hips in 30 patients after a mean follow-up of 6.7 years (range, 5-14 years). Mean age at treatment initiation was 5 days (range, 1-15 days) and mean treatment duration was 34 days (range, 15-75 days). Mean acetabular angle was 20° (range, 12°-30°) and mean Wiberg's lateral centre-edge angle was 30° (range, 22°-35°). Blunting of the lateral angle of the bony roof was noted in 8 hips at last follow-up. In 1 patient whose hip was stable clinically but unstable by ultrasonography at 21 days of age, recurrent dislocation occurred at 5 months of age. The Severin class was 1a in all patients. Despite continuing controversy about whether hip dislocation induces

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2005-03-01

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

  5. Sexual dimorphism in canine shape among extant great apes.

    Science.gov (United States)

    Kelley, J

    1995-04-01

    There have been numerous attempts to sex fossil specimens using the canine dentition. Whether focused on canine size or canine shape, most of these efforts share two deficiencies: lack of quantification of male-female differences in the adopted criteria and a failure to adequately explore among extant species the discriminatory power of these criteria. Here, canine shape indices relating to relative canine height, upper canine root/crown proportionality, and relative length of the lower canine mesial ridge were calculated for males and females of all species and subspecies of extant great apes and two species of gibbons. The accuracy of these indices for identifying the sex of the extant ape specimens was investigated through discriminant analysis and the use of bivariate plots of the two upper and two lower canine indices. The indices were found to be highly accurate in identifying the sex of great ape individuals, not only in single-species and subspecies samples but in mixed-species samples as well; assignment error rates were mostly between 0 and 4%. Accuracy was lowest in Pan (error rates as high as 15%) and highest in Pongo (one error). In most cases, error rates were lower in the upper canines. The effectiveness of these shape indices for sexing might be related to the degree of absolute canine size dimorphism; the indices did not effectively segregate males and females among minimally canine-dimorphic gibbons. The mixed-species results reveal that same-sex index values are remarkably concordant across great ape species, as are the patterns of spatial segregation of males and females in the bivariate plots. Results suggest that, while the indices can be used with some confidence to sex individual fossil specimens, their greatest utility will be for identifying the sex of groups of canines united by size and morphology.

  6. Stroma and extracellular matrix proteins in canine tumours

    OpenAIRE

    2004-01-01

    In this thesis, studies on temporal and spatial changes in stromal cells and extracellular matrix (ECM) molecules in canine gastrointestinal (GIT) tumours and canine transmissible venereal (CTVT) tumours are described. The mechanisms involved in the phenotypic transformation of fibroblasts to myofibroblasts, and ECM changes were investigated. We found that the myofibroblast is the most common stromal cell in canine GIT epithelial tumours and most likely originated from pre-existing fibroblast...

  7. Validation of commercially available automated canine-specific immunoturbidimetric method for measuring canine C-reactive protein

    DEFF Research Database (Denmark)

    Hillström, Anna; Hagman, Ragnvi; Tvedten, Harold;

    2014-01-01

    with a human CRP assay previously validated for canine CRP determination. Samples from 40 healthy dogs were analyzed to establish a reference interval. RESULTS: Total imprecision was ..., there was good agreement between the validated human CRP assay and the new canine-specific assay. Healthy dogs had CRP concentrations that were less than the limit of quantification of the Gentian cCRP method (6.8 mg/L). CONCLUSIONS: The new canine-specific immunoturbidimetric CRP assay is a reliable and rapid......BACKGROUND: Measurement of C-reactive protein (CRP) is used for diagnosing and monitoring systemic inflammatory disease in canine patients. An automated human immunoturbidimetric assay has been validated for measuring canine CRP, but cross-reactivity with canine CRP is unpredictable. OBJECTIVE...

  8. Developmental processes and canine dimorphism in primate evolution.

    Science.gov (United States)

    Schwartz, Gary T; Miller, Ellen R; Gunnell, Gregg F

    2005-01-01

    Understanding the evolutionary history of canine sexual dimorphism is important for interpreting the developmental biology, socioecology and phylogenetic position of primates. All current evidence for extant primates indicates that canine dimorphism is achieved through bimaturism rather than via differences in rates of crown formation time. Using incremental growth lines, we charted the ontogeny of canine formation within species of Eocene Cantius, the earliest known canine-dimorphic primate, to test whether canine dimorphism via bimaturism was developmentally canalized early in primate evolution. Our results show that canine dimorphism in Cantius is achieved primarily through different rates of crown formation in males and females, not bimaturism. This is the first demonstration of rate differences resulting in canine dimorphism in any primate and therefore suggests that canine dimorphism is not developmentally homologous across Primates. The most likely interpretation is that canine dimorphism has been selected for at least twice during the course of primate evolution. The power of this approach is its ability to identify underlying developmental processes behind patterns of morphological similarity, even in long-extinct primate species.

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  10. The Iliofemoral Line: A Radiographic Sign of Acetabular Dysplasia in the Adult Hip.

    Science.gov (United States)

    Kraeutler, Matthew J; Ashwell, Zachary R; Garabekyan, Tigran; Goodrich, Jesse A; Welton, K Linnea; Flug, Jonathan A; O'Hara, John N; Mei-Dan, Omer

    2017-09-01

    Several radiographic parameters utilized for the diagnosis of acetabular dysplasia in adults suffer from poor reproducibility and reliability. To define and validate a novel radiographic parameter (the iliofemoral line [IFL]) for the detection of frank and borderline hip dysplasia and to compare the sensitivity and specificity of this radiographic marker to those of previously validated qualitative parameters. Cohort study (diagnosis); Level of evidence, 2. A consecutive cohort of 222 adult patients (436 hips) undergoing hip preservation surgery was included. The IFL, which extends from the lateral femoral neck through the inner cortical lip of the iliac crest, intersects the femoral head in cases of dysplasia. Percent medialization of the IFL was defined as the horizontal distance of the exposed femoral head lateral to the IFL, relative to the horizontal femoral head width at the center of the femoral head. Percent medialization of the IFL was strongly correlated to the lateral center edge angle ( P hip dysplasia with a sensitivity of 62% and specificity of 89%, while values exceeding 22% predicted the presence of frank acetabular dysplasia with a sensitivity of 77% and specificity of 94%. By comparison, abnormality of the Shenton line demonstrated a sensitivity of 3.7% and specificity of 97% for the detection of borderline dysplasia and a sensitivity of 16% and specificity of 99% for the detection of frank acetabular dysplasia. Compared with the Shenton line, percent medialization of the IFL was significantly more sensitive for the detection of both borderline and frank acetabular dysplasia (both P dysplasia and, to a lesser extent, borderline dysplasia. The use of this radiographic parameter as an additional tool may enable the earlier detection of borderline and frank hip dysplasia in young adults presenting with hip pain.

  11. A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family

    NARCIS (Netherlands)

    Agha, Z.; Iqbal, Z.; Azam, M.; Hoefsloot, L.H.; Bokhoven, J.H.L.M. van; Qamar, R.

    2013-01-01

    Bardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia. Bardet-Biedl Syndrome has a prevalence rate ranging from 1 in 100,000 to 1 in 160,000 births although there

  12. A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family

    NARCIS (Netherlands)

    Agha, Z.; Iqbal, Z.; Azam, M.; Hoefsloot, L.H.; Bokhoven, J.H.L.M. van; Qamar, R.

    2013-01-01

    Bardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia. Bardet-Biedl Syndrome has a prevalence rate ranging from 1 in 100,000 to 1 in 160,000 births although there

  13. Antigenic typing Polish isolates of canine parvovirus

    Energy Technology Data Exchange (ETDEWEB)

    Mizak, B. [National Veterinary Research Institute, Pulawy (Poland); Plucienniczak, A. [Polish Academy ofd Sciences. Microbiology and Virology Center, Lodz (Poland)

    1995-12-31

    Polish strains of canine parvovirus isolated between 1982 and 1993 were examined to determine the extent to which the virus has evolved antigenically and genetically over eleven years. Two CPV isolates obtained in Warsaw in 1982 and Pulawy in 1993, were examined using monoclonal antibody typing, restriction analysis and sequencing VP-2 protein gene. Five other isolates from Warsaw and Pulawy were tested with the panel of monoclonal antibodies specific to CPV-2, CPV-2a and common for canine parvovirus, feline panleukopenia virus and milk enteritis virus. Results of the studies demonstrated that all isolates tested represented CPV-2a antigenic type. Rapid antigenic strain replacement recorded by Parrish and Senda in the U.S.A and Japan was not confirmed in Poland. (author). 30 refs, 2 tabs.

  14. Kynanthropy: canine madness in Byzantine late antiquity.

    Science.gov (United States)

    Metzger, Nadine

    2015-09-01

    Those afflicted bark like dogs, scramble on all fours and loiter around graveyards - canine madness, referred to as kynanthropy, was an illness concept in its own right in the medicine of late antiquity. At roughly the same time as the medical description produced by Aëtius of Amida, the Syrian chronicler John of Ephesus, also from Amida, reported an epidemic of dog-like madness sweeping his home town in ad 560. The symptoms are identical and both authors are from Amida - what is the connection between the two depictions? In addition to the history of the medical concept, the example of the canine madness of Amida and its cultural embedding allows us to contextualize and interpret the significance of dog-like behaviour for the people of the sixth century AD. © The Author(s) 2015.

  15. Impacted canines: Etiology, diagnosis, and orthodontic management

    Directory of Open Access Journals (Sweden)

    Ranjit Manne

    2012-01-01

    Full Text Available Impaction of maxillary and mandibular canines is a frequently encountered clinical problem, the treatment of which usually requires an interdisciplinary approach. Surgical exposure of the impacted tooth and the complex orthodontic mechanisms that are applied to align the tooth into the arch may lead to varying amounts of damage to the supporting structures of the tooth, not to mention the long treatment duration and the financial burden to the patient. Hence, it seems worthwhile to focus on the means of early diagnosis and interception of this clinical situation. In the present article, an overview of the incidence and sequelae, as well as the surgical, periodontal, and orthodontic considerations in the management of impacted canines is presented.

  16. Canine islets in an ultrafiltered environment.

    Science.gov (United States)

    Merrell, R C; Basadonna, G

    1985-11-01

    Molecular sieve membranes can protect pancreatic islets against immune recognition in diabetic patients treated by endocrine tissue replacement. These biocompatible membranes permit the passage of small peptides such as insulin, and preclude the diffusion of immunoglobulins and immunogenic molecules. However, the tissue must function indefinitely in an ultrafiltered environment determined by the sequestering membranes. The chronic perifusion of canine islet tissue was compared in ultrafiltered and microfiltered chambers. The biphasic pattern of insulin release by similar numbers of islets from the same pancrease preparation was not significantly different when tissue was cultured in a micro- or an ultrafiltered environment. The cumulative insulin output of the two systems was quite similar over 3 days of culture. Canine islet tissue can be sustained in an ultrafiltered environment with maintenance of insulin release to glucose stimulation, which is quantitatively similar to islet tissue maintained in chronic perifusion without ultrafiltration.

  17. Canine autoimmune hemolytic anemia: management challenges

    Directory of Open Access Journals (Sweden)

    Swann JW

    2016-07-01

    Full Text Available James W Swann,1 Barbara J Skelly2 1Queen Mother Hospital for Animals, The Royal Veterinary College, Hatfield, Hertfordshire, 2Department of Veterinary Medicine, University of Cambridge, Cambridge, UK Abstract: Immune-mediated hemolytic anemia is one of the most common manifestations of canine immune-mediated disease, yet treatment regimens remain nonstandardized and, in some cases, controversial. The main reason for this, as for most diseases in veterinary medicine, is the lack of large-scale placebo-controlled trials so that the efficacy of one treatment over another can be established. Most of the evidence used for treatment comes from retrospective studies and from personal preference and experience, and because of this, treatment regimens tend to vary among institutions and individual clinicians. Management of immune-mediated hemolytic anemia includes immunosuppression, thromboprophylaxis, and supportive care measures to help prevent and treat concurrent conditions. Keywords: IMHA, canine immune-mediated disease, management regimens

  18. The treatment of canine demodecosis with amitraz.

    Science.gov (United States)

    Davis, D A

    1985-03-01

    The treatment of a series of 27 clinical cases of canine demodecosis is reported. Three of 4 applications of a wash containing 0,025% amitraz, together with antimicrobial and antipruritic therapy where necessary, were sufficient to effect clinical cure in 25 out of 26 cases mildly to severely affected. In one case, very severely affected, 9 weekly applications, together with antimicrobial and antipruritic therapy, effected clinical and parasitological cure.

  19. Increasing Incidence of Canine Leptospirosis in Switzerland

    Directory of Open Access Journals (Sweden)

    Andrea Major

    2014-07-01

    Full Text Available A marked increase in canine leptospirosis was observed in Switzerland over 10 years with a peak incidence of 28.1 diagnosed cases/100,000 dogs/year in the most affected canton. With 95% affected dogs living at altitudes <800 m, the disease presented a seasonal pattern associated with temperature (r2 0.73 and rainfall (r2 0.39, >90% cases being diagnosed between May and October. The increasing yearly incidence however was only weakly correlated with climatic data including number of summer (r2 0.25 or rainy days (r2 0.38. Serovars Australis and Bratislava showed the highest seropositivity rates with 70.5% and 69.1%, respectively. Main clinical manifestations included renal (99.6%, pulmonary (76.7%, hepatic (26.0%, and hemorrhagic syndromes (18.2%, leading to a high mortality rate (43.3%. Similar to the human disease, liver involvement had the strongest association with negative outcome (OR 16.3. Based on these data, canine leptospirosis presents similar features and severity as the human infection for which it therefore can be considered a model. Its re-emergence in a temperate country with very high incidence rates in canines should thus be viewed as a warning and emphasize the need for increased awareness in other species.

  20. Canine Histiocytic Malignancies—Challenges and Opportunities

    Directory of Open Access Journals (Sweden)

    Katherine Kennedy

    2016-01-01

    Full Text Available Canine histiocytic malignancies (HM are aggressive tumors that occur with particularly high frequency in certain breeds including Bernese mountain dogs and flat-coated retrievers. Robust diagnosis of HM commonly utilizes immunohistochemical stains that are broadly ineffective on formalin-fixed tissues; thus the diagnosis is often one of exclusion. Clinical outcomes are generally poor, with frequent metastasis and therapeutic failure lowering overall survival at time of diagnosis to an average of less than two months in the majority of published work. The limited understanding of the molecular mechanisms underlying HM has hindered the development of more effective diagnostic modalities and the identification of therapeutic targets. A potential avenue exists for advancing clinical management of canine cancers through extrapolation from a close counterpart in human medicine. Historically, HM have been compared to the rare and understudied subset of human cancers involving the dendritic lineage, such as dendritic cell sarcoma or Langerhans cell sarcoma. Recent data have now thrown into question the cellular origin of HM, suggesting that the disease may originate from the macrophage lineage. This review summarizes existing knowledge of HM from the clinical, histologic and molecular perspectives, and highlights avenues for future research that may aid the development of novel diagnostic and therapeutic approaches. In turn, a more advanced appreciation of the mechanisms underlying HM should clarify their cellular origin and identify appropriate opportunities for synergistic extrapolation between related canine and human cancers.

  1. Coryneform bacteria associated with canine otitis externa.

    Science.gov (United States)

    Aalbæk, Bent; Bemis, David A; Schjærff, Mette; Kania, Stephen A; Frank, Linda A; Guardabassi, Luca

    2010-10-26

    This study aims to investigate the occurrence of coryneform bacteria in canine otitis externa. A combined case series and case-control study was carried out to improve the current knowledge on frequency and clinical significance of coryneform bacteria in samples from canine otitis externa. A total of 16 cases of otitis externa with involvement of coryneform bacteria were recorded at two referral veterinary hospitals in Denmark and the US, respectively. Coryneform bacteria were identified by partial 16S rRNA gene sequencing. Corynebacterium auriscanis was the most common coryneform species (10 cases). Small colony variants of this species were also observed. Other coryneform isolates were identified as Corynebacterium amycolatum (3 cases), Corynebacterium freneyi (2 cases) and an Arcanobacterium-like species (1 case). The coryneform bacteria were in all cases isolated together with other bacteria, mainly Staphylococcus pseudintermedius alone (n=5) or in combination with Malassezia pachydermatis (n=5). Some coryneform isolates displayed resistance to fusidic acid or enrofloxacin, two antimicrobial agents commonly used for the treatment of otitis externa in dogs. The frequency of isolation of coryneform bacteria was 16% among 55 cases of canine otitis externa examined at the Danish hospital during 2007. In contrast, detectable levels of coryneform bacteria were not demonstrated in samples from the acustic meatus of 35 dogs with apparently healthy ears, attending the hospital during the same year. On basis of the current knowledge, these coryneform bacteria should be regarded as potential secondary pathogens able to proliferate in the environment of an inflamed ear canal.

  2. Responses of suprachiasmatic nucleus neurons to light and dark adaptation: Relative contributions of melanopsin and rod-cone inputs

    NARCIS (Netherlands)

    Drouyer, Elise; Rieux, Camille; Hut, Roelof A.; Cooper, Howard M.

    2007-01-01

    The circadian oscillator in the suprachiasmatic nucleus (SCN) is entrained to the environmental light/dark cycle through photic information conveyed from the retina. The vast majority of projections to the SCN arise from melanopsin-expressing ganglion cells that are intrinsically light sensitive and

  3. Multiple rod-cone and cone-rod photoreceptor transmutations in snakes: evidence from visual opsin gene expression.

    Science.gov (United States)

    Simões, Bruno F; Sampaio, Filipa L; Loew, Ellis R; Sanders, Kate L; Fisher, Robert N; Hart, Nathan S; Hunt, David M; Partridge, Julian C; Gower, David J

    2016-01-27

    In 1934, Gordon Walls forwarded his radical theory of retinal photoreceptor 'transmutation'. This proposed that rods and cones used for scotopic and photopic vision, respectively, were not fixed but could evolve into each other via a series of morphologically distinguishable intermediates. Walls' prime evidence came from series of diurnal and nocturnal geckos and snakes that appeared to have pure-cone or pure-rod retinas (in forms that Walls believed evolved from ancestors with the reverse complement) or which possessed intermediate photoreceptor cells. Walls was limited in testing his theory because the precise identity of visual pigments present in photoreceptors was then unknown. Subsequent molecular research has hitherto neglected this topic but presents new opportunities. We identify three visual opsin genes, rh1, sws1 and lws, in retinal mRNA of an ecologically and taxonomically diverse sample of snakes central to Walls' theory. We conclude that photoreceptors with superficially rod- or cone-like morphology are not limited to containing scotopic or photopic opsins, respectively. Walls' theory is essentially correct, and more research is needed to identify the patterns, processes and functional implications of transmutation. Future research will help to clarify the fundamental properties and physiology of photoreceptors adapted to function in different light levels.

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

    Science.gov (United States)

    Narayan, Rajeev L; Maldjian, Pierre D

    2009-01-09

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

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

    NARCIS (Netherlands)

    A.M. Lievense (Annet); S.M. Bierma-Zeinstra (Sita); A.P. Verhagen (Arianne); J.A.N. Verhaar (Jan); B.W. Koes (Bart)

    2004-01-01

    textabstractBACKGROUND: It has been suggested that in some patients with primary hip osteoarthritis (OA), the disease occurs as a consequence of acetabular dysplasia or hip dysplasia (HD). OBJECTIVE: To carry out a systematic review to investigate the association between acetabular

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

    Directory of Open Access Journals (Sweden)

    Nandita S Gupta

    2015-01-01

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

  7. Grading systems in head and neck dysplasia: their prognostic value, weaknesses and utility.

    NARCIS (Netherlands)

    Fleskens, S.; Slootweg, P.J.

    2009-01-01

    ABSTRACT: BACKGROUND: Grading of dysplasia, including head and neck lesions, continues to be a hotly debated subject. It is subjective and lacks intra- and inter-observer reproducibility due to the insufficiency of validated morphological criteria and the biological nature of dysplasia. Moreover,

  8. Immunolocalization of osteopontin in dysplasias and squamous cell carcinomas arising from oral epithelium

    Directory of Open Access Journals (Sweden)

    Thara Aravind

    2017-01-01

    Conclusion: The expression of OPN in full thickness of epithelium in severe dysplasias, carcinoma in situ, and in the superficial epithelium of OSCC suggest the possibility of considering OPN expression in full epithelial thickness in dysplasias as an indicator for malignant transformation.

  9. Genetic variances, trends and mode of inheritance for hip and elbow dysplasia in Finnish dog populations

    NARCIS (Netherlands)

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

    2002-01-01

    The aims of this study were to assess genetic variances, trends and mode of inheritance for hip and elbow dysplasia in Finnish dog populations. The influence of time-dependent fixed effects in the model when estimating the genetic trends was also studied. Official hip and elbow dysplasia screening

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

    NARCIS (Netherlands)

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

    2010-01-01

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

  11. Surgically intractable epilepsy associated with focal cortical dysplasia and congenital cutaneous hemangiomas.

    Science.gov (United States)

    Brzezinski, Anna; Cruz, Vincent B; Prayson, Richard A

    2014-11-01

    We describe a 6-month-old girl with medically intractable seizures, multiple congenital hemangiomas, and developmental delay. The patient underwent two surgical resections. Pathological findings at both the first and second resections were consistent with focal cortical dysplasia. The literature was reviewed on focal cortical dysplasia associated with cutaneous hemangiomas. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Congenital renal dysplasia and psychogenic polydipsia in a Bernese mountain dog.

    OpenAIRE

    Olenick, C L

    1999-01-01

    Congenital renal dysplasia was tentatively diagnosed, based on ultrasound and an intravenous urogram, in a 5-month-old female with polyuria and polydipsia. Creatinine clearance measurement revealed that the renal dysplasia was not the cause of the polyuria. A modified water deprivation test eliminated other differential diagnoses and confirmed psychogenic polydipsia.

  13. Walking pattern in adults with congenital hip dysplasia: 14 women examined by inverse dynamics

    DEFF Research Database (Denmark)

    Pedersen, Eva Natalia G.; Simonsen, Erik B; Alkjaer, T

    2004-01-01

    Knowledge of the gait dynamics in patients with hip dysplasia may help to understand the consequences of the mechanical changes in the hip.......Knowledge of the gait dynamics in patients with hip dysplasia may help to understand the consequences of the mechanical changes in the hip....

  14. Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities.

    Science.gov (United States)

    Bellamkonda-Athmaram, V; Sulman, C G; Basel, D G; Southern, J; Konduri, G G; Basir, M A

    2014-04-01

    Alveolar capillary dysplasia is a rare and fatal disease of newborn infants. Here we describe a patient with alveolar capillary dysplasia, multiple congenital anomalies, a novel genetic mutation and previously undocumented airway findings on bronchoscopy. Knowledge of these associations may help diagnose this rare disorder in neonates with hypoxemic respiratory failure.

  15. Detection of oral dysplasia in animals with fluorine-18-FDG and carbon-11-tyrosine

    NARCIS (Netherlands)

    Braams, JW; Witjes, MJH; Nooren, CAAM; Nikkels, PGJ; Vaalburg, W; Vermey, A; Roodenburg, JLN

    The uptake of F-18-fluorodeoxyglucose (FDG) and L-[1-C-11]tyrosine (TYR) was investigated in male Wistar albino rats with chemically induced dysplasia and oral squamous cell carcinoma (SCC) to correlate the uptake values with the grade of dysplasia, Methods: The palates of 54 rats was painted three

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

    NARCIS (Netherlands)

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

    1992-01-01

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

  17. Comparative proteomics of rat brain in the BCNU-induced model of cortical dysplasia

    Institute of Scientific and Technical Information of China (English)

    郭谊

    2014-01-01

    Objective To screen the differential proteins in the brain(neocortex and hippocampus)between the rats with cortical dysplasia(CD)and control ones,and investigate the role of their alteration in the development of epilepsy in CD.Methods Cortical dysplasia was induced in rat pups via in utero delivery of BCNU.A two-dimensional electrophoresis

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

    Science.gov (United States)

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

    2015-11-01

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

  19. Lumbar gibbus in storage diseases and bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Levin, T.L. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Berdon, W.E. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Lachman, R.S. [International Skeletal Dysplasia Registry, Los Angeles, CA (United States); Anyane-Yeboa, K. [Department of Pediatrics, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Ruzal-Shapiro, C. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Roye, D.P. Jr. [Department of Orthopedic Surgery, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States)

    1997-04-01

    Objective. The objective of this study was to review the problem of lumbar gibbus in children with storage diseases and bone dysplasias utilizing plain films and MR imaging. Materials and methods. Clinical histories and radiographic images in five patients with storage diseases [four mucopolysaccharidosis (MPS) and one mucolipidosis] and two with achondroplasia were reviewed. The International Skeletal Dysplasia Registry (Los Angeles, Calif.), surveyed for all patients with lumbar gibbus and skeletal dysplasias, provided 12 additional cases. Results. All patients had localized gibbus of the upper lumbar spine, characterized by anterior wedging and posterior displacement of the vertebrae at the apex of the curve, producing a beaked appearance. The curve, exaggerated in the sitting or standing position, was most severe in the two patients with MPS-IV (one of whom died). Both developed severe neurologic signs and symptoms requiring surgical intervention. In four patients, MR images demonstrated the apex of the curve to be at or below the conus. Two patients demonstrated anterior herniation of the intervertebral discs at the apex of the curve, though the signal intensity of the intervertebral discs was normal. Conclusion. Lumbar gibbus has important neurologic and orthopedic implications, and is most severe in patients with MPS. The etiology of the gibbus with vertebral beaking is multifactorial and includes poor truncal muscle tone, weight-bearing forces, growth disturbance and anterior disc herniation. The curve is generally at or below the conus. Neurologic complications are unusual, although orthopedic problems can arise. Due to their longer survival, patients with achondroplasia or Morquio`s disease are more vulnerable to eventual gibbus-related musculoskeletal complications. (orig.). With 6 figs., 2 tabs.

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

    Science.gov (United States)

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

    2008-07-01

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

  1. MR imaging findings of acetabular dysplasia in adults

    Energy Technology Data Exchange (ETDEWEB)

    James, Steven; Connell, David [The Royal National Orthopaedic Hospital, Radiology Department, London, Middlesex (United Kingdom); Miocevic, Miranda; Malara, Frank; Pike, Jonathan [Victoria House Hospital, Radiology Department, Melbourne (Australia); Young, David [Melbourne Orthopaedic Group, Orthopaedic Surgery, Melbourne (Australia)

    2006-06-15

    To evaluate the diagnostic accuracy of MR imaging in the identification of labral and articular cartilage lesions in patients with acetabular dysplasia. Pre-operative MR imaging was performed on 27 hips in 25 consecutive patients (16 males, 9 females, age range 19-52 years, mean age 31.2 years) with radiographic evidence of acetabular dysplasia (centre-edge angle of Wiberg <20 degrees). The average duration of symptoms was 16.2 months. Two musculoskeletal radiologists assessed MR images in consensus for the presence of abnormality involving the acetabular labrum and adjacent acetabular articular cartilage. A high resolution, non-arthrographic technique was used to assess the labrum and labral chondral transitional zone. Surgical correlation was obtained in all cases by a single surgeon experienced in hip arthroscopy and ten patients with normal hip MRI were included to provide a control group. The acetabular labra in the dysplastic hips demonstrated abnormal signal intensity, and had an elongated appearance when compared with the control group (mean length 10.9 mm vs 6.4 mm). Morphological appearances in the labra included surface irregularity, fissures and cleft formation. MR imaging correctly identified the severity of chondral abnormality in 24 of 27 hips (89%) when compared with arthroscopic findings. MR imaging demonstrates an elongated labrum, focal intra-substance signal change and irregularity and fissuring of the margins in patients with acetabular dysplasia. Abnormality is also identified at the labral chondral transitional zone, where fissuring, focal clefts, chondral deficiency and subchondral cyst formation may be apparent. A high-resolution, non-arthrographic technique can provide an accurate preoperative assessment and evaluate the presence of premature osteoarthritis. (orig.)

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-11-15

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

  3. Hypocalcemic laryngospasm and tetany in a child with renal dysplasia.

    Science.gov (United States)

    Murphy, Geoff; Bartle, Sam

    2006-07-01

    Stridor is a common presenting sign of respiratory illness in the pediatric population-especially in the winter. Infrequently, tetany as a chief complaint may be seen with tetanus, seizures, and dystonic reactions to medications. There are few medical conditions that present with both symptoms. This is a case of a patient who presented to our emergency department in early winter with both stridor and tetany. The child was diagnosed with hypocalcemia resulting from a previously undiagnosed renal dysplasia and his symptoms resolved with the administration of IV calcium.

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

    Science.gov (United States)

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

    2007-01-01

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

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

    Science.gov (United States)

    Zimmerman, Stefan L

    2015-02-01

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

  6. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    2004-01-01

    BACKGROUND: The study was performed to qualify the source material of 4151 pelvic radiographs for the research into the relationship between unrecognised childhood hip disorders and the development of hip osteoarthrosis, and to investigate the effect of varying degrees of pelvic tilt and rotation...... dysplasia in the longitudinal survey cohort of the Copenhagen City Heart Study (CCHS; Osteoarthrosis Sub-study). 1) Cadaver pelvises and proximal femurs from a male and a female donor were mounted anatomically in holding devices allowing independent inclination/reclination and rotation. An AP pelvic...

  7. Diagnosis of congenital hip dysplasia in the newborn.

    Science.gov (United States)

    Finne, Per Haavwardsholm; Dalen, Ingvild; Ikonomou, Nicolaos; Ulimoen, Geir; Hansen, Thor Willy Ruud

    2008-06-01

    Screening of newborn infants for congenital hip dysplasia may be done by clinical examination, ultrasound, or radiography--or a combination of these. Studies that have used clinical examination followed by ultrasound imaging for infants with certain risk factors have shown excellent results, but they were performed by very experienced practitioners. We wanted to find out whether the results of such screening would be equally good with less optimal staffing. Thus, we evaluated the real-life performance of a screening program for detection of congenital hip dysplasia in newborn infants. We performed a retrospective chart review of all infants (n = 1,983) referred for evaluation for suspected congenital hip dysplasia from one single obstetric hospital, where 19,820 infants had been screened from 1992 through 2001. Infants were referred either because of a positive finding during the Ortolani and Barlow examinations or because of the presence of risk factors. The reasons for referral of the 1,983 infants (10% of those examined) were: positive clinical signs in 255 (1.3% of all examined) and risk factors in 1,547 (7.8%), and a combination of both in 114 (0.6%). 67 other infants (0.3%) who had passed the initial pediatric screening were later referred from the local health centers. Finally, 23 of the 1,983 infants were subsequently referred again by their health center for renewed orthopedic evaluation. Of the infants who were treated (298/1,983 = 15% of those referred), those with a pathological examination result were represented proportionately more than infants who were referred because of risk factors (0.8% as opposed to 0.5%). Delayed diagnoses occurred in 1.7/1,000 infants. The performance of a screening protocol for congenital hip dysplasia in a real-life setting involving several physicians both on the pediatric and orthopedic side may not live up to expectations based on the use of such a protocol in an optimized setting. This type of analysis of screening data

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

    Science.gov (United States)

    Ayach, Taha; Kazory, Amir

    2013-12-01

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

  9. Fibrous dysplasia of maxilla: Report of two cases

    Directory of Open Access Journals (Sweden)

    Nisha Dua

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Mahapatra A

    2003-01-01

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

  11. Genetic Determination of Bronchopulmonary Dysplasia Formation: Pros and Cons

    Directory of Open Access Journals (Sweden)

    V. K. Pozharishchenskaya

    2017-01-01

    Full Text Available Currently, researches are being actively carried out to identify genetic risk factors for the development of bronchopulmonary dysplasia (BPD in premature infants, including genetic polymorphism encoding surfactants, matrix metalloproteinases, cytokines, growth factors, and components of the body’s antioxidant defence. The review presents the results of foreign and domestic genetic trials in this field aimed at predicting the possible formation of BLD in premature infants and providing a personalized approach to the management of such patients.

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

    Science.gov (United States)

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

    1987-01-01

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

  13. Elucidating drivers of oral epithelial dysplasia formation and malignant transformation to cancer using RNAseq.

    Science.gov (United States)

    Conway, Caroline; Graham, Jennifer L; Chengot, Preetha; Daly, Catherine; Chalkley, Rebecca; Ross, Lisa; Droop, Alastair; Rabbitts, Pamela; Stead, Lucy F

    2015-11-24

    Oral squamous cell carcinoma (OSCC) is a prevalent cancer with poor prognosis. Most OSCC progresses via a non-malignant stage called dysplasia. Effective treatment of dysplasia prior to potential malignant transformation is an unmet clinical need. To identify markers of early disease, we performed RNA sequencing of 19 matched HPV negative patient trios: normal oral mucosa, dysplasia and associated OSCC. We performed differential gene expression, principal component and correlated gene network analysis using these data. We found differences in the immune cell signatures present at different disease stages and were able to distinguish early events in pathogenesis, such as upregulation of many HOX genes, from later events, such as down-regulation of adherens junctions. We herein highlight novel coding and non-coding candidates for involvement in oral dysplasia development and malignant transformation, and speculate on how our findings may guide further translational research into the treatment of oral dysplasia.

  14. Quantitative histopathological evaluation of vocal cord dysplasia with particular emphasis on nuclear orientation.

    Science.gov (United States)

    Stenersen, T C; Boysen, M; Juhng, S W; Reith, A

    1992-06-01

    We have applied morphometry on formaldehyde-fixed, H & E-stained diagnostic laryngeal biopsies from 7 patients with mild dysplasia and 7 with severe dysplasia/carcinoma in situ, in search of objective parameters required for reproducible histopathological grading of epithelial dysplasias. Special emphasis has been put upon the individual nuclear polarity as a spatial variable. Also included were 4 specimens with normal epithelium. By means of a semiautomatic digitizing tablet, the nuclear and epithelial area, formfactor and the polarity variation between the longitudinal axes of adjacent nuclei were measured in the basal, parabasal, middle and luminal layers of the epithelium. N:C-ratio, mean values of nuclear area, formfactor or their coefficient of variation could not distinguish between mild and severe dysplasia. The variations in neighboring nuclear polarity, however, revealed a highly significant distinction between mild and severe dysplasia (p less than 0.001). This parameter may therefore have diagnostic potential.

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

    DEFF Research Database (Denmark)

    Troelsen, Anders

    2012-01-01

    Hip dysplasia and hip joint deformities in general are recognized as possible precursors of osteoarthritic development. Early and correct identification of hip dysplasia is important in order to offer timely joint preserving treatment. In the contemporary literature, several controversies exist......, and some of these were the focus of this doctoral thesis. Categorized into subjects, the major findings and their possible importance are listed below. DIAGNOSTIC ASSESSMENT OF HIP DYSPLASIA: A multi-observer study quantified the variability of different methods for diagnostic assessment of hip dysplasia...... and osteoarthritis and resulted in general recommendations regarding diagnostic assessment of hip dysplasia. Pelvic tilt was shown to differ significantly between the supine and weight-bearing positions in patients with dysplastic hip joints. This is a finding that adds controversy to the application of neutral...

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

    Science.gov (United States)

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

    2013-12-01

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

  17. 9 CFR 113.317 - Parvovirus Vaccine (Canine).

    Science.gov (United States)

    2010-01-01

    ... 9 Animals and Animal Products 1 2010-01-01 2010-01-01 false Parvovirus Vaccine (Canine). 113.317... Virus Vaccines § 113.317 Parvovirus Vaccine (Canine). Parvovirus Vaccine recommended for use in dogs... parvovirus susceptible dogs (20 vaccinates and 5 controls) shall be used as test animals. Blood samples drawn...

  18. Canine tooth size and fitness in male mandrills (Mandrillus sphinx).

    Science.gov (United States)

    Leigh, Steven R; Setchell, Joanna M; Charpentier, Marie; Knapp, Leslie A; Wickings, E Jean

    2008-07-01

    Sexual selection theory explains the evolution of exaggerated male morphologies and weaponry, but the fitness consequences of developmental and age-related changes in these features remain poorly understood. This long-term study of mandrill monkeys (Mandrillus sphinx) demonstrates how age-related changes in canine tooth weaponry and adult canine size correlate closely with male lifetime reproductive success. Combining long-term demographic and morphometric data reveals that male fitness covaries simply and directly with canine ontogeny, adult maximum size, and wear. However, fitness is largely independent of other somatometrics. Male mandrills sire offspring almost exclusively when their canines exceed approximately 30 mm, or two-thirds of average adult value (45 mm). Moreover, sires have larger canines than nonsires. The tooth diminishes through wear as animals age, corresponding with, and perhaps influencing, reproductive senescence. These factors combine to constrain male reproductive opportunities to a brief timespan, defined by the period of maximum canine length. Sexually-selected weaponry, especially when it is nonrenewable like the primate canine tooth, is intimately tied to the male life course. Our analyses of this extremely dimorphic species indicate that sexual selection is closely intertwined with growth, development, and aging, pointing to new directions for sexual selection theory. Moreover, the primate canine tooth has potential as a simple mammalian system for testing genetically-based models of aging. Finally, the tooth may record details of life histories in fossil primates, especially when sexual selection has played a role in the evolution of dimorphism.

  19. Global epidemiology of canine rabies: past, present, and future prospects

    Directory of Open Access Journals (Sweden)

    Taylor LH

    2015-11-01

    Full Text Available Louise H Taylor,1 Louis H Nel1,21Global Alliance for Rabies Control, Manhattan, KS, USA; 2Department of Microbiology and Plant Pathology, Faculty of Natural and Agricultural Sciences, University of Pretoria, Pretoria, South Africa Abstract: The rabies virus, a public health scourge from ancient times, is currently responsible for an estimated 59,000 human deaths a year, almost all transmitted via dog bites. It causes considerable economic impacts on developing countries, primarily in Africa and Asia, which can least afford these losses. However, despite its almost 100% case fatality rate, canine rabies is a completely preventable disease, and historic examples of canine rabies elimination in the developed world attest to this. Over the last decade, programs based on eliminating the source of the disease from dogs have shown success in reducing the public health burden of canine rabies in developing countries, notably across Latin America, and this has contributed to the growing evidence base necessary to change attitudes toward the feasibility of global canine rabies elimination. More recently, assessments of the current economic burden of canine rabies and the potential cost savings achievable through mass dog vaccinations have been added to this evidence base. Tools and support are available from the international community to help countries move progressively toward canine rabies elimination, and there is optimism that global freedom from canine rabies can be achieved within the next few decades. Keywords: canine rabies, epidemiology, elimination, zoonosis, rabies virus

  20. Steady progression of osteoarthritic features in the canine groove model

    NARCIS (Netherlands)

    Marijnissen, A.C.A.; Roermund, P.M. van; Verzijl, N.; Tekoppele, J.M.; Bijlsma, J.W.J.; Lafeber, F.P.J.G.

    2002-01-01

    Objective: Recently we described a canine model of osteoarthritis (OA), the groove model with features of OA at 10 weeks after induction, identical to those seen in the canine anterior cruciate ligament transection (ACLT) model. This new model depends on cartilage damage accompanied by transient int

  1. 9 CFR 113.316 - Canine Parainfluenza Vaccine.

    Science.gov (United States)

    2010-01-01

    ... from virus-bearing cell culture fluids. Only Master Seed which has been established as pure, safe, and... administered and individually tested on susceptible cell cultures for the presence of canine parainfluenza... for virus isolation by culture in canine parainfluenza virus susceptible cells for at least 7 days...

  2. Steady progression of osteoarthritic features in the canine groove model

    NARCIS (Netherlands)

    Marijnissen, A.C.A.; Roermund, P.M. van; Verzijl, N.; Tekoppele, J.M.; Bijlsma, J.W.J.; Lafeber, F.P.J.G.

    2002-01-01

    Objective: Recently we described a canine model of osteoarthritis (OA), the groove model with features of OA at 10 weeks after induction, identical to those seen in the canine anterior cruciate ligament transection (ACLT) model. This new model depends on cartilage damage accompanied by transient int

  3. Morphology and immunoreactivity of canine and feline extramedullary plasmacytomas.

    Science.gov (United States)

    Mikiewicz, M; Otrocka-Domagała, I; Paździor-Czapula, K; Gesek, M

    2016-01-01

    The aim of the study was the evaluation of morphology and immunophenotype of canine (19 cases) and feline (7 cases) extramedullary plasmacytomas. Tumours, located in skin, oral cavity and spleen were surgically excised, fixed and processed for histopathology and immunohistochemistry (CD79α, CD18, proliferating cell nuclear antigen, metallothionein). Histologically, tumours were classified into mature, cleaved, asynchronous, polymorphous blastic, hyalin, or monomorphous blastic type. All evaluated tumours showed cytoplasmic expression of CD79α antigen. The expression of CD18 was observed in canine cutaneous and splenic tumours. In canine tumours expression of metallothionein was low to moderate, while in feline plasmacytomas - absent or low. In canine tumours, the mitotic index and proliferating cell nuclear antigen index were positively correlated with the expression of metallothionein. In feline tumours no correlation between mitotic index, proliferating cell nuclear antigen and metallothionein was found. This is the first study describing expression of metallothionein in canine and feline extramedullary plasmacytoma.

  4. Copy number loss in the region of the ASPN gene in patients with acetabular dysplasia: ASPN CNV in acetabular dysplasia.

    Science.gov (United States)

    Sekimoto, T; Ishii, M; Emi, M; Kurogi, S; Funamoto, T; Yonezawa, Y; Tajima, T; Sakamoto, T; Hamada, H; Chosa, E

    2017-07-01

    We have previously investigated an association between the genome copy number variation (CNV) and acetabular dysplasia (AD). Hip osteoarthritis is associated with a genetic polymorphism in the aspartic acid repeat in the N-terminal region of the asporin (ASPN) gene; therefore, the present study aimed to investigate whether the CNV of ASPN is involved in the pathogenesis of AD. Acetabular coverage of all subjects was evaluated using radiological findings (Sharp angle, centre-edge (CE) angle, acetabular roof obliquity (ARO) angle, and minimum joint space width). Genomic DNA was extracted from peripheral blood leukocytes. Agilent's region-targeted high-density oligonucleotide tiling microarray was used to analyse 64 female AD patients and 32 female control subjects. All statistical analyses were performed using EZR software (Fisher's exact probability test, Pearson's correlation test, and Student's t-test). CNV analysis of the ASPN gene revealed a copy number loss in significantly more AD patients (9/64) than control subjects (0/32; p = 0.0212). This loss occurred within a 60 kb region on 9q22.31, which harbours the gene for ASPN. The mean radiological parameters of these AD patients were significantly worse than those of the other subjects (Sharp angle, p = 0.0056; CE angle, p = 0.0076; ARO angle, p = 0.0065), and all nine patients required operative therapy such as total hip arthroplasty or pelvic osteotomy. Moreover, six of these nine patients had a history of operative or conservative therapy for developmental dysplasia of the hip. Copy number loss within the region harbouring the ASPN gene on 9q22.31 is associated with severe AD. A copy number loss in the ASPN gene region may play a role in the aetiology of severe AD.Cite this article: T. Sekimoto, M. Ishii, M. Emi, S. Kurogi, T. Funamoto, Y. Yonezawa, T. Tajima, T. Sakamoto, H. Hamada, E. Chosa. Copy number loss in the region of the ASPN gene in patients with acetabular dysplasia: ASPN CNV in acetabular

  5. Recombinant canine distemper virus serves as bivalent live vaccine against rabies and canine distemper.

    Science.gov (United States)

    Wang, Xijun; Feng, Na; Ge, Jinying; Shuai, Lei; Peng, Liyan; Gao, Yuwei; Yang, Songtao; Xia, Xianzhu; Bu, Zhigao

    2012-07-20

    Effective, safe, and affordable rabies vaccines are still being sought. Attenuated live vaccine has been widely used to protect carnivores from canine distemper. In this study, we generated a recombinant canine distemper virus (CDV) vaccine strain, rCDV-RVG, expressing the rabies virus glycoprotein (RVG) by using reverse genetics. The recombinant virus rCDV-RVG retained growth properties similar to those of vector CDV in Vero cell culture. Animal studies demonstrated that rCDV-RVG was safe in mice and dogs. Mice inoculated intracerebrally or intramuscularly with rCDV-RVG showed no apparent signs of disease and developed a strong rabies virus (RABV) neutralizing antibody response, which completely protected mice from challenge with a lethal dose of street virus. Canine studies showed that vaccination with rCDV-RVG induced strong and long-lasting virus neutralizing antibody responses to RABV and CDV. This is the first study demonstrating that recombinant CDV has the potential to serve as bivalent live vaccine against rabies and canine distemper in animals.

  6. Oral Iloprost Improves Endobronchial Dysplasia in Former Smokers

    Science.gov (United States)

    Keith, Robert L.; Blatchford, Patrick J.; Kittelson, John; Minna, John D.; Kelly, Karen; Massion, Pierre P.; Franklin, Wilbur A.; Mao, Jenny; Wilson, David O.; Merrick, Daniel T.; Hirsch, Fred R.; Kennedy, Timothy C.; Bunn, Paul A.; Geraci, Mark W.; Miller, York E.

    2011-01-01

    There are no established chemopreventive agents for lung cancer, the leading cause of cancer death in the United States. Prostacyclin levels are low in lung cancer and supplementation prevents lung cancer in preclinical models. We carried out a multicenter double-blind, randomized, phase II placebo-controlled trial of oral iloprost in current or former smokers with sputum cytologic atypia or endobronchial dysplasia. Bronchoscopy was performed at study entry and after completion of six months of therapy. Within each subject, the results were calculated by using the average score of all biopsies (Avg), the worst biopsy score (Max), and the dysplasia index (DI). Change in Avg was the primary end point, evaluated in all subjects, as well as in current and former smokers. The accrual goal of 152 subjects was reached and 125 completed both bronchoscopies (60/75 iloprost, 65/77 placebo). Treatment groups were well matched for age, tobacco exposure, and baseline histology. Baseline histology was significantly worse for current smokers (Avg 3.0) than former smokers (Avg 2.1). When compared with placebo, former smokers receiving oral iloprost exhibited a significantly greater improvement in Avg (0.41 units better, P = 0.010), in Max (1.10 units better, P = 0.002), and in DI (12.45%, P = 0.006). No histologic improvement occurred in current smokers. Oral iloprost significantly improves endobronchial histology in former smokers and deserves further study to determine if it can prevent the development of lung cancer. PMID:21636546

  7. Rib enlargement in premature infants with bronchopulmonary dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    2000-04-01

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

  8. Hypertrophic Cardiomyopathy and Connective Tissue Dysplasia Syndrome: Comorbidity Variants

    Directory of Open Access Journals (Sweden)

    Yu. N. Belenkov

    2016-01-01

    Full Text Available Aim. To study the structure of co-morbidities, especially connective tissue undifferentiated dysplasia syndrome (CTDS, in patients with hypertrophic cardiomyopathy (HCM to develop an algorithm of complex examination of patients.Material and methods. Patients with HCM (n=186; 88 men and 78 women were examined. The diagnosis of HCM was based on current guidelines; molecular genetic study was performed in the absence of phenotypic manifestations. Echocardiography and standard examination of cardiac patient were performed in all patients to identify comorbidities. Genotyping of polymorphisms of 12 modifying genes was performed in 61 patients and 61 people in the control group.Results. HCM was most often associated with uterine myoma (52%, cardiac and extracardiac congenital malformations (50%, and thyroid diseases (37%. Combination of HCM with different variants of connective tissue dysplasia was found in 17% of patients (mitral valve prolapse – 6.3%, tricuspid valve prolapse – 2.7%, supplemental chords – 4.5%, bivalve aortic disease – 1.8%, increased left ventricular trabeculation – 3.6%, atrial septal aneurysm – 3.6%, membranous ventricular septal defect – 1.8%.Conclusion. CTDS is one of the most often associated disorders in patients with HCM. The study of the association of CTDS and HCM, the nature of their genetic structure and similarity of pathogenesis require further study.

  9. [Bernese periacetabular osteotomy for the treatment of severe hip dysplasia].

    Science.gov (United States)

    Huang, Ye; Zhang, Hong; Liu, Qing; Jiang, Zeng-hui; Dou, Yong

    2010-02-15

    To analyze the mid-term clinical and radiographic results obtained with the Bernese periacetabular osteotomy for the treatment of severe hip dysplasia. From October 1997 to December 2002 20 hips of 18 patients were classified as having severe acetabular dysplasia (Severin classification Grade IVb). Preoperatively, all patients had hip pain, and sufficient hip joint congruency on functional radiographs. All 20 hips underwent Bernese periacetabular osteotomy. Postoperatively, the hips were assessed radiographically on center edge angle (CE), acetabular roof obliquity and the progression of osteoarthritis. Clinical results and hip function were measured with the Harris hip score at an average of 6.2 years follow-up. Comparison of preoperative and follow-up radiographs demonstrated significant improvements in the lateral CE angle, the anterior CE angle, and roof obliquity. The average Harris hip score improved from 78.5 points preoperatively to 91.1 points at the time of the latest follow-up. Fourteen of 18 patients were satisfied with the result of the surgery, and 16 of 20 hips had a good or excellent clinical result. Under-correction occurred in 5 hips. The Bernese periacetabular osteotomy is an effective procedure for surgical correction of the severe dysplastic hip. This osteotomy can predictably obtain major reorientation of the acetabulum in all planes. The clinical results in the mid-term follow-up are encouraging.

  10. Bone markers in craniofacial bone deformations and dysplasias

    Directory of Open Access Journals (Sweden)

    Monika Seifert

    2015-10-01

    Full Text Available Various forms of bony deformations and dysplasias are often present in the facial skeleton. Bone defects can be either localized or general. Quite often they are not only present in the skull but also can be found in other parts of the skeleton. In many cases the presence and levels of specific bone markers should be measured in order to fully describe their activity and presence in the skeleton. Fibrous dysplasia (FD is the most common one in the facial skeleton; however, other bone deformations regarding bone growth and activity can also be present. Every clinician should be aware of all common, rare and uncommon bony diseases and conditions such as cherubism, Paget’s disease, osteogenesis imperfecta and others related to genetic conditions. We present standard (calcium, parathyroid hormone, calcitonin, alkaline phosphatase, vitamin D and specialized bone markers (pyridinium, deoxypyridinium, hydroxyproline, RANKL/RANK/OPG pathway, growth hormone, insulin-like growth hormone-1 that can be used to evaluate, measure or describe the processes occurring in craniofacial bones.

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

    Directory of Open Access Journals (Sweden)

    Kátia Tôrres Batista

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

  12. Grading of oral epithelial dysplasia: Points to ponder

    Directory of Open Access Journals (Sweden)

    K M Geetha

    2015-01-01

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

  13. Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

    Energy Technology Data Exchange (ETDEWEB)

    Unger, S.L. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Briggs, M.D.; Holden, P. [Wellcome Trust Centre for Cell-Matrix Research, University of Manchester (United Kingdom); Zabel, B. [Children' s Hospital, Univ. of Mainz (Germany); Ala-Kokko, L.; Paassilta, P.; Lohiniva, J. [Dept. of Medical Biochemistry, Univ. of Oulu (Finland); Rimoin, D.L. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA (United States); Lachman, R.S. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA (United States); Department of Radiology, UCLA School of Medicine, Los Angeles, CA (United States); Cohn, D.H. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA (United States)

    2001-01-01

    Multiple epiphyseal dysplasia (MED) is an osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/dysplasia. MED is genetically heterogeneous, with autosomal dominant cases resulting from mutations in at least three genes: the cartilage oligomeric matrix protein (COMP) gene (EDM1) and the COL9A2 (EDM2) and COL9A3 (EDM3) genes of type IX procollagen. We present here a comparison of the radiographic phenotypes of MED patients with type IX collagen gene mutations and those with COMP gene mutations. We reviewed radiographs from two patients with MED produced by COMP mutations, two families with COL9A2 mutations, and one family with a mutation in COL9A3. The data demonstrated that the patients with type IX collagen defects had more severe joint involvement at the knees and relative hip sparing, while the patients with COMP mutations had significant involvement at the capital femoral epiphyses and irregular acetabuli. This pattern of joint involvement was consistent regardless of overall degree of severity of the phenotype. (orig.)

  14. Molecular pathogenesis of focal cortical dysplasia and hemimegalencephaly.

    Science.gov (United States)

    Crino, Peter B

    2005-04-01

    My laboratory recently demonstrated that there is selective expression of phosphoribosomal S6 protein in balloon cells in focal cortical dysplasia and hemimegalencephaly but no expression of the upstream kinase, phospho-p70S6 kinase. Two proteins activated by phospho-p70S6 kinase, phospho-STAT3 and phospho-4EBP1, were not detected in balloon cells. Using complementary DNA arrays in hemimegalencephaly specimens, we found increased expression of cyclin D1 and c-myc messenger ribonucleic acids (RNAs). Expression of cyclin D1 and c-myc genes is transcriptionally activated by beta-catenin. Western analysis demonstrated increased levels of nonphosphorylated beta-catenin in hemimegalencephalic cortex. Reduced levels of Ser33, Ser37, and Thr41 phospho-beta-catenin, sites known to be phosphorylated by glycogen synthase kinase 3 and to be essential for beta-catenin inactivation, were detected in hemimegalencephaly. Enhanced transcription of cyclin D1 and c-myc messenger RNAs, increased transcriptionally active beta-catenin, and decreased Ser33/Ser37/Thr41 phospho-beta-catenin suggest activation of the Wnt-1/beta-catenin cascade in hemimegalencephaly, which can lead to aberrant cell proliferation and hemispheric enlargement during brain development. Enhanced activation of phospho-S6 and beta-catenin suggests two converging cell pathways that can be pivotal in the pathogenesis of focal cortical dysplasia and hemimegalencephaly.

  15. Automated measurement of diagnostic angles for hip dysplasia

    Science.gov (United States)

    de Raedt, Sepp; Mechlenburg, Inger; Stilling, Maiken; Rømer, Lone; Søballe, Kjeld; de Bruijne, Marleen

    2013-03-01

    A fully automatic method for measuring diagnostic angles of hip dysplasia is presented. The method consists of the automatic segmentation of CT images and detection of anatomical landmarks on the femur and acetabulum. The standard angles used in the diagnosis of hip dysplasia are subsequently automatically calculated. Previous work in automating the measuring of angles required the manual segmentation or delineation of the articular joint surface. In the current work automatic segmentation is established using graph-cuts with a cost function based on a sheetness score to detect the sheet-like structure of the bone. Anatomical landmarks are subsequently detected using heuristics based on ray-tracing and the distance to the approximated acetabulur joint surface. Standard diagnositic angles are finally calculated and presented for interpretation. Experiments using 26 patients, showed a good agreement with gold standard manual measurements by an expert radiologist as performed in daily practice. The mean difference for the five angles was between -1:1 and 2:0 degrees with a concordance correlation coefficient between 0:87 and 0:93. The standard deviation varied between 2:3 and 4:1 degrees. These values correspond to values found in evaluating interobserver and intraobserver variation for manual measurements. The method can be used in clinical practice to replace the current manual measurements performed by radiologists. In the future, the method will be integrated into an intraoperative surgical guidance system.

  16. Grading of oral epithelial dysplasia: Points to ponder.

    Science.gov (United States)

    Geetha, K M; Leeky, M; Narayan, T V; Sadhana, S; Saleha, J

    2015-01-01

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

  17. Central retinal artery occlusion in association with fibromuscular dysplasia

    Directory of Open Access Journals (Sweden)

    Altun A

    2013-11-01

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

  18. Simultaneous canine distemper encephalitis and canine parvovirus infection with distemper-associated cardiac necrosis in a pup

    OpenAIRE

    HEADLEY, Selwyn Arlington; Saito,Taís Berelli

    2003-01-01

    Simultaneous infection of canine distemper virus and canine parvovirus associated with distemper myocardial degeneration and necrosis is described in a pup. The dog demonstrated myoclonus, nystagmus, enamel hypoplasia, abdominal pustules, and bilateral corneal ulceration clinically. Demyelinating encephalitis, myocardial degeneration and necrosis with mineralization, and necrosis, hemorrhage and fusion of intestinal villi were observed. The lesions observed in this dog are characteristic of a...

  19. Extraglandular and intraglandular vascularization of canine prostate.

    Science.gov (United States)

    Stefanov, Miroslav

    2004-03-01

    The literature on the vascularization of the canine prostate is reviewed and the clinical significance of prostate morphology is described. Scanning Electron Microscopy (SEM), combined with improved corrosion casting methods, reveal new morphological details that promise better diagnostics and treatment but also require expansion of clinical nomenclature. A proposal is made for including two previously unnamed veins in Nomina Anatomica Veterinaria (NAV). The canine prostate has two lobes with independent vascularization. Each lobe is supplied through the left and right a. prostatica, respectively. The a. prostatica sprouts three small vessels (cranial, middle, and caudal) towards the prostate gland. A. prostatica is a small-size artery whose wall structure is similar to the arteries of the muscular type. V. prostatica is a small-size valved vein. The canine prostate has capsular, parenchymal, and urethral vascular zones. The surface vessels of the capsule are predominantly veins and the diameter of arterial vessels is larger than that of the veins. The trabecular vessels are of two types: direct and branched. The prostate parenchyma is supplied by branches of the trabecular vessels. The periacinary capillaries are fenestrated and form a net in a circular pattern. The processes of the myoepithelial cells embrace both the acins and the periacinar capillaries. In the prostate ductal system. there are spermatozoa. The prostatic part of the urethra is supplied by an independent branch of a. prostatica. The prostatic urethral part is drained by v. prostatica, the vein of the urethral bulb and the ventral prostate veins. M. urethralis begins as early as the urethral prostatic part. The greater part of the white muscle fibers in m. urethralis suggest an enhanced anaerobic metabolism. Copyright 2004 Wiley-Liss, Inc.

  20. A Case of Postmortem Canine Depredation.

    Science.gov (United States)

    Chute, Dennis J; Bready, Robert J

    2017-06-01

    We report the case of postmortem animal depredation that produced initial confusion for investigators who responded to the scene. A decomposing elderly woman was found in her presumed home with bilateral upper extremity amputations and craniocerebral trauma. This raised suspicion of foul play. Subsequent investigations together with autopsy led the medical examiner to conclude that the cause of death was natural disease and that those injuries found on her body were produced by at least one of the dogs who shared the premises. We linked the canine culprit to the postmortem trauma and positively identified the remains by collecting material defecated by the animal and by using radiologic and dental comparison techniques.

  1. Canine parvovirus in asymptomatic feline carriers.

    Science.gov (United States)

    Clegg, S R; Coyne, K P; Dawson, S; Spibey, N; Gaskell, R M; Radford, A D

    2012-05-25

    Canine parvovirus (CPV) and feline panleukopaenia virus (FPLV) are two closely related viruses, which are known to cause severe disease in younger unvaccinated animals. As well as causing disease in their respective hosts, CPV has recently acquired the feline host range, allowing it to infect both cats and dogs. As well as causing disease in dogs, there is evidence that under some circumstances CPV may also cause disease in cats. This study has investigated the prevalence of parvoviruses in the faeces of clinically healthy cats and dogs in two rescue shelters. Canine parvovirus was demonstrated in 32.5% (13/50) of faecal samples in a cross sectional study of 50 cats from a feline only shelter, and 33.9% (61/180) of faecal samples in a longitudinal study of 74 cats at a mixed canine and feline shelter. Virus was isolated in cell cultures of both canine and feline origin from all PCR-positive samples suggesting they contained viable, infectious virus. In contrast to the high CPV prevalence in cats, no FPLV was found, and none of 122 faecal samples from dogs, or 160 samples collected from the kennel environment, tested positive for parvovirus by PCR. Sequence analysis of major capsid VP2 gene from all positive samples, as well as the non-structural gene from 18 randomly selected positive samples, showed that all positive cats were shedding CPV2a or 2b, rather than FPLV. Longitudinally sampling in one shelter showed that all cats appeared to shed the same virus sequence type at each date they were positive (up to six weeks), despite a lack of clinical signs. Fifty percent of the sequences obtained here were shown to be similar to those recently obtained in a study of sick dogs in the UK (Clegg et al., 2011). These results suggest that in some circumstances, clinically normal cats may be able to shed CPV for prolonged periods of time, and raises the possibility that such cats may be important reservoirs for the maintenance of infection in both the cat and the dog

  2. Lactoferrin in canine sera: a pyometra study.

    Science.gov (United States)

    Bartoskova, A; Adlerova, L; Kudlackova, H; Leva, L; Vitasek, R; Faldyna, M

    2009-07-01

    The concentration of lactoferrin was measured in canine sera from groups of healthy male dogs as well as pregnant and non-pregnant female dogs and was compared with that of bitches with pyometra. Lactoferrin concentrations were higher in bitches with pyometra. The role of elevated lactoferrin concentrations in the suppression of lymphocyte activity was examined in sera from bitches with pyometra in a series of investigations. Although the sera from bitches with pyometra were capable of suppressing lymphocyte activity, lactoferrin was not found to be involved in this action.

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

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    Sayed S El-Sayed

    2004-01-01

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

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

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

    1999-02-15

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

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

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    Brunno Santos de Freitas SILVA

    2015-10-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-01-01

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

  7. Does radiographic coxa profunda indicate increased acetabular coverage or depth in hip dysplasia?

    Science.gov (United States)

    Fujii, Masanori; Nakamura, Tetsuro; Hara, Toshihiko; Nakashima, Yasuharu; Iwamoto, Yukihide

    2015-06-01

    Although radiographic coxa profunda has been considered an indicator of acetabular overcoverage, recent studies suggest that radiographic coxa profunda is a nonspecific finding seen even in hip dysplasia. The morphologic features of coxa profunda in hip dysplasia and the frequency with which the two overlap are not well defined. We determined (1) the prevalence of radiographic coxa profunda in patients with hip dysplasia; (2) the morphologic differences of the acetabulum and pelvis between patients with hip dysplasia and control subjects; and (3) the morphologic differences between hip dysplasia with and without coxa profunda. We retrospectively reviewed the pelvic radiographs and CT scans of 70 patients (70 hips) with hip dysplasia. Forty normal hips were used as controls. Normal hips were defined as those with a lateral center-edge angle between 25° and 40°. Coxa profunda was defined as present when the acetabular fossa was observed to touch or was medial to the ilioischial line on an AP pelvic radiograph. CT measurements included acetabular version, acetabular coverage, acetabular depth, and rotational alignment of the innominate bone. The prevalence of coxa profunda was 44% (31 of 70 hips) in dysplastic hips and 73% (29 of 40 hips) in the control hips (odds ratio, 3.32; 95% CI, 1.43-7.68). Dysplastic hips had a more anteverted and globally shallow acetabulum with inwardly rotated innominate bone compared with the control hips (p hips with coxa profunda had a more anteverted acetabulum (p hip dysplasia, but rather indicates classic acetabular dysplasia, defined by an anteverted acetabulum with anterolateral acetabular deficiency and an inwardly rotated pelvis. Thus, the presence of coxa profunda does not indicate a disease in addition to hip dysplasia, and the conventional maneuvers during periacetabular osteotomy are adequate for these patients. Level IV, diagnostic study.

  8. [Establishment of prostatic hyperplasia model with castration beagle canines].

    Science.gov (United States)

    Wu, Jian-Hui; Sun, Zu-Yue; Zhu, Yan; Zhong, En-Hong; He, Gui-Lin; Liu, Gui-Ming

    2003-09-01

    To establish a prostatic hyperplasia model with Beagle canines. Twenty-four two-year-old male Beagle canines were divided into treatment and control groups at random and were administrated testosterone propionate (TP) through intramuscular injection two months after castration. Three treatment groups were given 0.8, 2.5 and 7.5 mg/kg TP respectively, and the control was given the same volume of vehicle. Two months later, half of the animals were killed and the serum and prostate were prepared. After the wet weight and volume of prostate were measured, the dihydrotestosterone (DHT) level of serum and prostate were detected with DHT radioimmunoassay (RIA) kit, and paraffine section from canine prostate was stained by the HE methods. Pictures were taken by digital camera under microscope, and all the pictures were analyzed by computer for epithelial cell height and acinar luminal area of prostate with micro image analysis software. The canine prostate volume was measured with ultrasonic diagnosis instrument before castration, at two months after castration and at two months after being given TP. The ultrasonic results showed that the prostate volumes of all the canines were smaller at two months after castration than before castration (P canines became higher with the increase of TP dose. The results of micro image analysis showed that the acinar luminal area of prostate was enlarged, and the epithelial cell height increased with larger dose of TP. It is practicable to establish prostatic hyperplasia model in Beagle canines after two months of TP administration.

  9. Cone beam computed tomography findings of impacted upper canines

    Energy Technology Data Exchange (ETDEWEB)

    Da Silva Santos, Ludmilla Mota [Dept. of Endodontics, Aracatuba Dental School, Paulista State University, Aracatuba(Brazil); Bastos, Luana Costa; Da Silva, Silvio Jose Albergaria; Campos, Paulo Sergio Flores [School of Dentistry, Federal University of Bahia, Salvador (Brazil); Oliveira Santos, Christiano [Dept. of Stomatology, Oral Public Health, and Forensic Dentistry, School of Dentistry, University of Sao Paulo, Ribeirao Preto (Brazil); Neves, Frederico Sampaio [Dept. of Oral Diagnosis, Piracicaba Dental School, State University of Campinas, Piracicaba (Brazil)

    2014-12-15

    To describe the features of impacted upper canines and their relationship with adjacent structures through three-dimensional cone-beam computed tomography (CBCT) images. Using the CBCT scans of 79 upper impacted canines, we evaluated the following parameters: gender, unilateral/bilateral occurrence, location, presence and degree of root resorption of adjacent teeth (mild, moderate, or severe), root dilaceration, dental follicle width, and presence of other associated local conditions. Most of the impacted canines were observed in females (56 cases), unilaterally (51 cases), and at a palatine location (53 cases). Root resorption in adjacent teeth and root dilaceration were observed in 55 and 47 impacted canines, respectively. In most of the cases, the width of the dental follicle of the canine was normal; it was abnormally wide in 20 cases. A statistically significant association was observed for all variables, except for root dilaceration (p=0.115) and the side of impaction (p=0.260). Root resorption of adjacent teeth was present in most cases of canine impaction, mostly affecting adjacent lateral incisors to a mild degree. A wide dental follicle of impacted canines was not associated with a higher incidence of external root resorption of adjacent teeth.

  10. Endodontic management of mandibular canine with two canals

    Directory of Open Access Journals (Sweden)

    Nidhi Shrivastava

    2013-01-01

    Full Text Available Endodontic treatment may sometimes fail because morphological features of the tooth adversely affect the treatment procedures. Many investigators have reported the anatomical variations associated with mandibular canines. Mandibular canines are recognized as usually having one root and one root canal in most cases. This case report describes a clinical case of mandibular canine with two canals. Human mandibular canines do not present internal anatomy as simple as could be expected; there are such canines with a single root and two canals, two roots or fused roots. The existence of mandibular canines with more than one root canal is a fact that clinicians ought to keep in mind, in order to avoid failure during endodontic treatment. In spite of the low incidence of lower canines with one root and two canals, this possibility cannot be forgotten, inasmuch as the presence of a second canal in these teeth leads to difficulties in endodontic treatment. The precise knowledge of the dental endocanalicular system′s anatomy is essential in the success of the root canal therapy, because the failure to detect the accessories canals and the incomplete radicular obturation leads to the infection of the periapical space, which will ultimately result in the loss of the tooth.

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

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

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

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

    Science.gov (United States)

    Kim, Jeong-Hee; Song, Byeong-Chul; Kim, Sun-Ho; Park, Yang-Soon

    2011-09-01

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

  13. Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

    Energy Technology Data Exchange (ETDEWEB)

    Olow-Nordenram, M.A.K.; Raadberg, C.T.

    1984-01-01

    Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-09-15

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

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

    Directory of Open Access Journals (Sweden)

    Farzaneh Motamed

    2006-09-01

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

  16. Septo-optic dysplasia associated with congenital persistent fetal vasculature, retinal detachment, and gastroschisis.

    Science.gov (United States)

    Jordan, Michael A; Montezuma, Sandra R

    2015-01-01

    The purpose of this study was to report the association of septo-optic dysplasia, persistent fetal vasculature, retinal detachment, and gastroschisis in a preterm neonate. This is a case report. A female preterm neonate was found to have septo-optic dysplasia, with optic nerve hypoplasia, tripartite splitting of the vessels at the optic nerve, an ectopic pituitary gland, and absence of the septum pellucidum associated with persistent fetal vasculature, a retinal detachment, and gastroschisis. Septo-optic dysplasia may also be associated with other ophthalmic findings and other developmental malformations as the authors report in this case. Follow-up should consist of a multidisciplinary approach with radiologic and endocrinology consultation.

  17. Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula.

    Science.gov (United States)

    Zamzam, Mohammed M

    2008-10-01

    We describe an otherwise normal male neonate who presented shortly after birth with rare congenital osteofibrous dysplasia of the right tibia associated with pseudoarthrosis of the ipsilateral fibula. The lesion was curetted, and the defect was packed with a fibular bone graft from the other leg. Histopathological examination was typical for osteofibrous dysplasia. The ipsilateral fibular pseudoarthrosis was observed with no active intervention. Seven years follow-up showed good functional recovery without recurrence of the lesion. The case is a new presentation of congenital osteofibrous dysplasia, and is presented to draw attention to this rare condition that must be considered in the differential diagnosis of congenital lesions of the tibia.

  18. New type of spondylo-metaphyseal dysplasia - Algerian type. Report of five cases

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

    1988-04-01

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

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

    Science.gov (United States)

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

    2016-09-01

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

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

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

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