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Sample records for rod-cone dysplasia type

  1. Characterisation of the canine rod-cone dysplasia type one gene (rod photoreceptor cGMP phosphodiesterase beta subunit (PDEB)) - a model for human retinitis pigmentosa

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    Clements, P.J.M.; Gregory, C.Y. [Univ. of London (United Kingdom); Petersen-Jones, S.M. [Univ. of Edinburgh (United Kingdom)

    1994-09-01

    Rod-cone dysplasia type one (rod-1) is an early onset, autosomal recessive retinal dystrophy segregating in the Irish setter breed. It is a model for certain forms of human autosomal recessive retinitis pigmentosa (arRP) caused by mutations in the same gene, PDEB. We confirmed the codon 807 Trp to Stop mutation and were the first to show cosegregation of the mutant allele with disease in a pedigree. We believe that this currently represents the best animal model available for some aspects of arRP, since canine tissues are relatively easy to access compared to human and yet the canine eye is of comparable size, unlike that of the rd mouse. This facilitates therapeutic intervention particularly at the subretinal level. In order to more fully investigate this model we have been characterizing the PDEB gene in the normal dog. Using PCR we have partially mapped the intron/exon structure, demonstrating a very high degree of evolutionary conservation with the mouse and human genes. RT-PCR has been used to reveal expression in a variety of neural and non-neural tissues. A PCR product spanning exons 19 to 22 (which also contains the site for the rcd-1 mutation) is detected in retina but also in tissues such as visual cortex, cerebral cortex, cerebellum, lateral geniculate nucleus, adrenal gland, lung, kidney and ovary. All of these tissues gave a negative result with primers for rds/peripherin, a gene which is expressed in rods and cones. This raises interesting questions about the regulation of PDEB transcripts which is initially being investigated by Northern analysis. In addition, anchored PCR techniques have generated upstream genomic sequences and we are currently mapping the 5{prime} extent of the mRNA transcript in the retina. This will facilitate the analysis of potential upstream promoter elements involved in directing expression.

  2. Craniometadiaphyseal dysplasia, wormian bone type.

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

    1998-05-18

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

  3. Rootless teeth: Dentin dysplasia type I

    National Research Council Canada - National Science Library

    Fulari, Sangamesh G; Tambake, Deepti P

    2013-01-01

    A rare case of hereditary disturbance of dentine, Dentin dysplasia type I is presented, which is characterized by short or total absence of roots, obliterated pulp chambers, and peri-apical radiolucencies...

  4. Genetics Home Reference: platyspondylic lethal skeletal dysplasia, Torrance type

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    ... cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. ... What is newborn screening? New Pages type 2 diabetes mitochondrial complex I deficiency mitochondrial complex V deficiency ...

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

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    Mohammad Imnul Islam

    2012-06-01

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

  6. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.

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    Langer, L O; Brill, P W; Afshani, E; Williams, C A; Thomas, I T; Frias, J L

    1991-01-01

    We describe the radiographic findings in two siblings with a previously unrecognized craniotubular bone dysplasia. We call this condition craniometadiaphyseal dysplasia, wormian bone type. Because the parents of the siblings are consanguineous, this is probably a genetically determined condition with an autosomal recessive type of transmission. The findings in the siblings are compared with those of a woman with the same condition, previously reported as an example of craniometaphyseal dysplasia. The combination of findings in these patients seems diagnostic: characteristic skull changes including multiple wormian bones; wide long tubular bones without normal metaphyseal flaring; wide short tubular bones without normal diaphyseal constriction and sometimes actual diaphyseal expansion; and wide ribs and clavicles.

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

    DEFF Research Database (Denmark)

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

    1995-01-01

    of adenomas were assessed twice by three experienced pathologists, with an interval of two months. Results were analyzed using kappa statistics. RESULTS: For agreement between first and second assessment (both type and grade of dysplasia), kappa values for the three specialists were 0.5345, 0.9022, and 0.......4100, respectively. Agreement was better for type than for dysplasia. The strength of agreement was moderate for Observers A and C and almost perfect for Observer B. Agreement between all three observers was seen in 35.2 percent for both type and dysplasia in 61 percent for type and in 47.8 percent for dysplasia...

  8. Dentin dysplasia, type II: a rare autosomal dominant disorder.

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    Melnick, M; Eastman, J R; Goldblatt, L I; Michaud, M; Bixler, D

    1977-10-01

    Dentin dysplasia, Type II, is a rare autosomal dominant disorder. The primary teeth are amber and translucent and the pulp chambers are obliterated. The permanent teeth have a normal to brown-gray coloration and a thistle-tube pulp configuration with multiple true denticles. To date, only five families with this disorder have been reported. This article presents two additional families. Light and scanning electron microscopy of an affected primary incisor showed the dentin, including the mantle layer, to be highly disorganized throughout. Possible pathogenic events associated with the phenotype are discussed.

  9. A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

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    Méjécase, C; Mohand-Saïd, S; El Shamieh, S; Antonio, A; Condroyer, C; Blanchard, S; Letexier, M; Saraiva, J-P; Sahel, J-A; Audo, I; Zeitz, C

    2017-11-09

    Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to identify the underlying gene defect leading to severe RCD in a 60-year-old woman. The patient's DNA was investigated by targeted next generation sequencing followed by whole exome sequencing. A novel nonsense variant, c.267G>A p.(Trp89*), was identified at a homozygous state in the proband in REEP6 gene, recently reported mutated in seven unrelated families with RCD. Further functional studies will help to understand the physiopathology associated with REEP6 mutations that may be linked to a protein trafficking defect. This article is protected by copyright. All rights reserved.

  10. Cervical dysplasia

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    ... squamous cells - dysplasia; Pap smear - dysplasia; HPV - dysplasia; Human papilloma virus - dysplasia; Cervix - dysplasia; Colposcopy - dysplasia Images Female reproductive anatomy Cervical neoplasia Uterus Cervical dysplasia - series References American ...

  11. Post-surgical outcome for epilepsy associated with type I focal cortical dysplasia subtypes.

    Science.gov (United States)

    Simpson, Samantha L; Prayson, Richard A

    2014-11-01

    Focal cortical dysplasias are a well-recognized cause of medically intractable seizures. The clinical relevance of certain subgroups of the International League Against Epilepsy (ILAE) classification scheme remains to be determined. The aim of the present work is to assess the effect of the focal cortical dysplasia type Ib and Ic histologic subtypes on surgical outcome with respect to seizure frequency. This study also provides an opportunity to compare the predictive value of the ILAE and Palmini et al classification schemes with regard to the type I focal cortical dysplasias. We retrospectively reviewed 91 focal cortical dysplasia patients (55% female; median age: 19 years (interquartile range 8-34); median seizure duration: 108 months (interquartile range 36-204)) with chronic epilepsy who underwent surgery. We compared the pathological subtypes, evaluating the patients' post-surgical outcome with respect to seizure frequency according to the Engel's classification and the ILAE outcome classification. Both the ILAE classification scheme and Palmini et al classification scheme were utilized to classify the histologic subtype. Using χ(2) and Fisher's exact tests, we compared the post-surgical outcomes among these groups. Of the 91 patients, there were 50 patients with ILAE focal cortical dysplasia type Ib, 41 with ILAE focal cortical dysplasia type Ic, 63 with Palmini et al focal cortical dysplasia type IA, and 28 with Palmini et al focal cortical dysplasia type IB. After surgery, 44 patients (48%) were seizure-free. Crude analysis revealed no significant difference between patients with subtypes of ILAE focal cortical dysplasia type I or Palmini et al focal cortical dysplasia type I concerning postoperative outcome according to the Engel and ILAE scoring systems on seizure frequency. Our findings revealed no significant difference concerning surgical outcome with respect to seizure frequency for the histologic subtypes of ILAE focal cortical dysplasia type I (Ib

  12. Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition

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    Rocha,Cristiane Tomaz; Nelson-Filho,Paulo; SILVA,Léa Assed Bezerra da; Assed, Sada; QUEIROZ,Alexandra Mussolino de

    2011-01-01

    Dentin dysplasia is a rare defect of dentin development with an autosomal dominant pattern of inheritance, which is generally divided into 2 main classes based on the clinical and radiographic appearance of the affected dental tissues: type I, which affects the root portion and type II, which affects the coronal portion of the tooth. This paper reports the case of a child aged 10 years and 8 months with both classic and atypical features of dentin dysplasia type I in the permanent dentition. ...

  13. Typical radiographic findings of dentin dysplasia type 1b with dental fluorosis

    National Research Council Canada - National Science Library

    Suman, S Venkata; Jayam, Raviraj; Kumar, B Vijay; Dirasantchu, Suresh; Kumar, K Venkata Suneel; Sk, Sameeulla

    2013-01-01

    .... We hereby report a case of dentin dysplasia type 1b with typical radiographic findings: short and blunt roots, pulpal obliteration, horizontal/crescent shaped radiolucencies in pulp chambers, and multiple periapical radiolucencies...

  14. [Comparison of electrocorticographic patterns with focal cortical dysplasia types in children with epilepsy].

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    Korsakova, M B; Kozlova, A B; Arkhipova, N A; Shishkina, L V; Vorob'ev, A N; Sorokin, V S; Masherov, E L; Melikyan, A G

    2015-01-01

    the objective of the study was to determine significant differences in electrocorticographic patterns for various types of focal cortical dysplasias. 42 patients diagnosed with drug-resistant focal epilepsy were operated on at the Burdenko Neurosurgical Institute in the period from 2006 to 2013. Patients who were histologically diagnosed with focal cortical dysplasia (FCD) and underwent video-electroencephalography and electrocorticography were analyzed. The classification of epileptiform patterns proposed by Palmini in 1995 was used. The sporadic epileptiform activity pattern was predominant in electrocorticographic studies. The continued pattern was more frequent in the case of type II focal cortical dysplasias (FCDs), both combined and isolated; burst and sporadic activity patterns prevailed in combinations in the case of type III FCDs. A uniform distribution of all pattern types of the epileptiform activity was observed in type I FCDs. The data are statistically significant for groups with sporadic and continued patterns. The continued epileptiform activity pattern is predominant in type II focal cortical dysplasia that corresponds to the most pronounced epileptogenesis processes of brain tissue with the presence of pathological forms of neurons. A uniform pattern distribution is observed for type I FCD. Patterns of the epileptiform activity and sporadic spike bursts are predominant in the case of type III FCDs. The sporadic activity is likely to be non-specific and almost uniformly distributed in all types of cortical dysplasias.

  15. A neuronal circuit for colour vision based on rod-cone opponency.

    Science.gov (United States)

    Joesch, Maximilian; Meister, Markus

    2016-04-14

    In bright light, cone-photoreceptors are active and colour vision derives from a comparison of signals in cones with different visual pigments. This comparison begins in the retina, where certain retinal ganglion cells have 'colour-opponent' visual responses-excited by light of one colour and suppressed by another colour. In dim light, rod-photoreceptors are active, but colour vision is impossible because they all use the same visual pigment. Instead, the rod signals are thought to splice into retinal circuits at various points, in synergy with the cone signals. Here we report a new circuit for colour vision that challenges these expectations. A genetically identified type of mouse retinal ganglion cell called JAMB (J-RGC), was found to have colour-opponent responses, OFF to ultraviolet (UV) light and ON to green light. Although the mouse retina contains a green-sensitive cone, the ON response instead originates in rods. Rods and cones both contribute to the response over several decades of light intensity. Remarkably, the rod signal in this circuit is antagonistic to that from cones. For rodents, this UV-green channel may play a role in social communication, as suggested by spectral measurements from the environment. In the human retina, all of the components for this circuit exist as well, and its function can explain certain experiences of colour in dim lights, such as a 'blue shift' in twilight. The discovery of this genetically defined pathway will enable new targeted studies of colour processing in the brain.

  16. Hippocampal sclerosis and associated focal cortical dysplasia-related epilepsy in neurofibromatosis type I.

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    Gales, Jordan; Prayson, Richard A

    2017-03-01

    Neurofibromatosis type I (NF1) is a relatively common disorder associated with a range of neurologic sequelae. Refractory epilepsy occurs in 4-13% of NF1 patients. Hippocampal sclerosis and focal cortical dysplasia, both well-defined epilepsy-related entities, have been described in a subset of cases. To our knowledge, there has been only one other series describing coexistent focal cortical dysplasia and hippocampal sclerosis in the setting of NF1. We report two such patients who presented with intractable seizures requiring epilepsy surgery. Histologically, the hippocampal sclerosis specimen met criteria for the International League Against Epilepsy (ILAE) hippocampal sclerosis subtypes Ia and II respectively. The associated focal cortical dysplasia observed within the resected temporal lobe were both consistent with ILAE focal cortical dysplasia type IIIa (e.g. associated with a secondary lesion). Post-operatively, both patients had recurrence of habitual seizures, with one case continuing to have intractable seizures following two subsequent temporal lobectomies. Although hippocampal sclerosis association with focal cortical dysplasia is well document in epilepsy, it has been rarely described in the setting of neurofibromatosis type I. Although prior surgical series have shown good epilepsy surgery outcomes within neurofibromatosis type I, these two cases did not. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. Dentin dysplasia type I: a challenge for treatment with dental implants

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    Meyer Ulrich

    2007-08-01

    Full Text Available Abstract Background Dentin dysplasia type I is characterized by a defect of dentin development with clinical normal appearance of the permanent teeth but no or only rudimentary root formation. Early loss of all teeth and concomitant underdevelopment of the jaws are challenging for successful treatment with dental implants. Methods A combination of sinus lifting and onlay bone augmentation based on treatment planning using stereolithographic templates was used in a patient with dentin dysplasia type I to rehabilitate the masticatory function. Results (i a predisposition for an increased and accelerated bone resorption was observed in our patient, (ii bone augmentation was successful using a mixture of allogenic graft material with autogenous bone preventing fast bone resorption, (iii surgical planning, based on stereolithographic models and surgical templates, facilitated the accurate placement of dental implants. Conclusion Bony augmentation and elaborate treatment planning is helpful for oral rehabilitation of patients with dentin dysplasia type I.

  18. Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.

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    Haye, Damien; Dridi, Hend; Levy, Jonathan; Lambert, Véronique; Lambert, Maurice; Agha, Mohamed; Adjimi, Frédéric; Kohlhase, Jürgen; Lipsker, Dan; Verloes, Alain

    2016-10-01

    Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in the post-translational modification of lamin. Nine distinct pathogenic variants have been identified in 11 patients from nine unrelated families with this disorder. We report a 12-year-old boy with mandibuloacral dysplasia with type B lipodystrophy and a novel homozygous c.1196A>G; p.(Tyr399Cys) mutation in ZMPSTE24. The patient had typical dermatological and skeletal features of mandibuloacral dysplasia with type B lipodystrophy, sparse hair, short stature, mild microcephaly, facial dysmorphism, and a striking failure of ossification of the interparietal region of the occipital bone, up to the position where transverse occipital suture can be observed. Newly recognized signs for mandibuloacral dysplasia with type B lipodystrophy were gaze palsy and ptosis. Delayed closure of cranial sutures and Wormian bones have been described in three patients, but an ossification failure strictly limited to the occipital bone, as seen in the present patient, appears to be unique for mandibuloacral dysplasia with type B lipodystrophy. This observation illustrates that ZMPSTE24 could play a specific role in membranous ossification in the interparietal part of the squama (Inca bone) but not in the intracartilaginous ossification of the supraoccipital. This failure of ossification in the squama appears to be a useful feature for the radiological diagnosis of mandibuloacral dysplasia with type B lipodystrophy. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type

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    Neumann, Luitgard; Kunze, Juergen [Institute of Human Genetics and Children' s Hospital, Charite Campus, Humboldt University, Augustenburger Platz 1, 13353, Berlin (Germany); Uhl, Markus [Department of Radiology, University of Freiburg (Germany); Stoever, Brigitte [Pediatric Radiology, Charite Campus, Humboldt University, Berlin (Germany); Zabel, Bernhard; Spranger, Juergen [Children' s Hospital, Gutenberg University, Mainz (Germany)

    2003-11-01

    We present a second family with survival to adulthood and dominant transmission of the Torrance-Luton type of platyspondylic chondrodysplasia, and demonstrate the radiographs at different ages together with radiographs and further data of the first family which was published in the Journal of Pediatrics (J Pediatr 136:411-413). Two families are described with survival to adulthood and dominant transmission of the Torrance-Luton type of platyspondylic chondrodysplasia. Although lethality is increased in patients with this disorder, mild expressions of the genetic defect are compatible with survival into adulthood. The heterogeneous group of platyspondylic lethal skeletal dysplasias (PLSD) originally included thanatophoric dysplasias (TD1/2: MIM 187600, 187100) as the most common forms of this condition, as well as TD variants San Diego type (PLSD-SD: MIM 270230) and Torrance-Luton type (PLSD-TL: MIM 151210). Fibroblast growth factor receptor 3 (FGFR3) gene mutations have been detected in TD1/2 and PLSD-SD. Molecular studies in one of our two families with the Torrance-Luton type did not disclose mutations in the FGFR3 coding region, suggesting that this type of platyspondylic chondrodysplasia is not a thanatophoric dysplasia variant. In contrast to TD1/2 and PLD-SD, the Torrance-Luton type platyspondylic dysplasia is compatible with survival to adulthood. (orig.)

  20. Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation

    NARCIS (Netherlands)

    Langereis, Eveline J.; den Os, Matthijs M.; Breen, Catherine; Jones, Simon A.; Knaven, Olga C.; Mercer, Jean; Miller, Weston P.; Kelly, Paula M.; Kennedy, Jim; Ketterl, Tyler G.; O'Meara, Anne; Orchard, Paul J.; Lund, Troy C.; van Rijn, Rick R.; Sakkers, Ralph J.; White, Klane K.; Wijburg, Frits A.

    2016-01-01

    Dysostosis multiplex contributes substantially to morbidity in patients with Hurler syndrome (mucopolysaccharidosis type I Hurler phenotype [MPS I-H]), even after successful hematopoietic stem cell transplantation (HSCT). One of the hallmarks of dysostosis multiplex in MPS I-H is hip dysplasia,

  1. MRI Findings and Seizure Outcomes Compared in Focal Cortical Dysplasias Types I and II

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    J Gordon Millichap

    2009-01-01

    Full Text Available Preoperative clinical, neuropsychological, EEG, and imaging features and surgical outcomes of focal cortical dysplasias (FCD types I and II were compared in 40 children with refractory epilepsy and histopathologically confirmed FCD subtypes, in a study at Charles University, Prague, Czech Republic and centers in Germany.

  2. Detection of Human Papillomavirus in Human Focal Cortical Dysplasia Type IIB

    NARCIS (Netherlands)

    Chen, Julie; Tsai, Victoria; Parker, Whitney E.; Aronica, Eleonora; Baybis, Marianna; Crino, Peter B.

    2012-01-01

    Objective: Focal cortical dysplasia type IIB (FCDIIB) is a sporadic developmental malformation of the cerebral cortex highly associated with pediatric epilepsy. Balloon cells (BCs) in FCDIIB exhibit constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway.

  3. Intestinal Neuronal Dysplasia Type B in Adults: A Controversial Entity

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    Vasillis Vougas

    2014-01-01

    Full Text Available Intestinal neuronal dysplasia (IND is a well-defined entity which raises controversy among authors, described as a congenital malformation of gastrointestinal innervation and caused by dysplastic embryonal development of the enteric nervous system. It is potentially associated with mild and chronic gastrointestinal motility disturbances. IND is rarely reported in adults and especially elderly patients. The present study reports on the case of a 71-year-old man suffering from longstanding idiopathic constipation and who was misdiagnosed for more than 60 years, despite several hospital admissions and a sigmoidectomy in the meantime. On the last admission, the patient presented with megacolon, abdominal pain and X-ray finding of bowel obstruction. Due to massive large bowel dilatation, an exploratory laparotomy failed to reveal any obvious mechanical cause, and a subtotal colectomy and Hartmann's procedure was performed. Bowel continuity was performed 3 months later. Analysis of full-thickness biopsies revealed enlarged myenteric and submucosal neurons as well as an increased number of giant cells and increased acetylcholinesterase activity in the mucosa. The diagnosis of IND was established. The main diagnostic criteria, the underlining pathophysiology and the recommended therapeutic approach of this rare entity are extensively reviewed.

  4. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

    Science.gov (United States)

    Michaelides, Michel; Gaillard, Marie-Claire; Escher, Pascal; Tiab, Leila; Bedell, Matthew; Borruat, François-Xavier; Barthelmes, Daniel; Carmona, Ruben; Zhang, Kang; White, Edward; McClements, Michelle; Robson, Anthony G; Holder, Graham E; Bradshaw, Keith; Hunt, David M; Webster, Andrew R; Moore, Anthony T; Schorderet, Daniel F; Munier, Francis L

    2010-09-01

    To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family C) origin, segregating the R373C mutation in PROM1, were ascertained. Electrophysiological assessment, fundus autofluorescence (FAF) imaging, fundus fluorescein angiography (FFA), and optical coherence tomography (OCT) were performed in available subjects. Mutation screening of PROM1 was performed. The R373C mutant was present heterozygously in all affected patients. The age at onset was variable and ranged between 9 and 58 years, with most of the individuals presenting with reading difficulties. Subjects commonly had a mild to moderate reduction in visual acuity except for members of family C who experienced markedly reduced central vision. The retinal phenotype was characterized by macular dystrophy, with retinal pigment epithelial mottling in younger subjects, progressing to typical BEM over time, with the development of macular atrophy in older patients. In addition, all members of family C had typical features of RP. The electrophysiological findings were variable both within and between families. Mutations in PROM1 have been described to cause a severe form of autosomal recessive RP in two families of Indian and Pakistani descent. The results of this study have demonstrated that a distinct redundant PROM1 mutation (R373C) can also produce an autosomal dominant, fully penetrant retinopathy, characterized by BEM with little inter- and intrafamilial variability, and retinal dystrophy with variable rod or rod-cone dysfunction and marked intra- and interfamilial variability, ranging from isolated maculopathy without generalized photoreceptor dysfunction to maculopathy associated with very severe rod-cone dysfunction.

  5. A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).

    Science.gov (United States)

    Rossi, Massimiliano; De Brasi, Daniele; Hall, Christine M; Battagliese, Antonella; Melis, Daniela; Sebastio, Gianfranco; Andria, Generoso

    2005-01-01

    We report a father and son affected by spondylo-epi-metaphyseal dysplasia with multiple dislocations (Hall type), also called leptodactylic form. This family contributes to the delineation of the clinical and radiological phenotype of this rare condition.

  6. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

    OpenAIRE

    Guo, Long; Elcioglu, Nursel H.; Mizumoto, Shuji; Wang, Zheng; Noyan, Bilge; Albayrak, Hatice M; Yamada, Shuhei; Matsumoto, Naomichi; Miyake, Noriko; Nishimura, Gen; Ikegawa, Shiro

    2017-01-01

    Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and brachydactyly. Although these phenotypes overlap considerably with some known SEM...

  7. Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation

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    Handa, Atsuhiko; Okajima, Yuka; Kurihara, Yasuyuki [St. Luke' s International Hospital, Department of Radiology, Tokyo (Japan); Izumi, Noriko; Yamanaka, Michiko [St. Luke' s International Hospital, Department of Integrated Women' s Health, Tokyo (Japan)

    2016-02-15

    Bent bone dysplasia-fibroblast growth factor receptor 2 type (BBD-FGFR2) is a recently identified skeletal dysplasia caused by specific FGFR2 mutations, characterized by craniosynostosis and prenatal bowing of the long bones. Only a few cases have been published. We report an affected fetus terminated at 21 weeks of gestation. The clinical and radiologic manifestations mostly recapitulate previous descriptions; however we suggest additional hallmarks of this disorder in early gestation. These hallmarks include distinctive short, thick clavicles and wavy ribs, as well as vertebral bodies that showed striking anteroposterior shortening. Femoral fractures were also present in our case. Although craniosynostosis is a hallmark of the disease, clinicians should be aware that craniosynostosis might not be readily apparent on plain films early in gestation. (orig.)

  8. Dentinal Dysplasia Type I: A Case Report with a 6-Year Followup

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    Sezin Ozer

    2013-01-01

    Full Text Available Introduction. Dentin dysplasia is a rare disturbance of dentin formation characterized by normal enamel but atypical dentin formation with abnormal pulpal morphology that is inherited as an autosomal pulpal morphology. Case Presentation. A 7-year-old female who had problems in chewing function was referred to Oral and Maxillofacial Surgery Department at the Faculty of Dentistry in Ondokuz Mayıs University. In the radiographic examination, it was determined that some of the unerupted permanent teeth of the patient had short, blunted, and malformed roots with obliterated pulp chambers, although the bone below the teeth showed well-defined margins. This unusual case of generalized short roots presents a case demonstrating both classic and atypical features of dentinal dysplasia type I (DDI in the mixed and permanent dentitions. Conclusion. There are still many issues in the diagnosis and management of patients with dentin dysplasia. Early diagnosis, clinical and radiographic findings, as well as treatment of this condition and the initiation of effective preventive strategies may help prevent or delay loss of dentition.

  9. Clinical, radiographic, and histological manifestations of dentin dysplasia, type I: Report of case.

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    Brenneise, C V; Dwornik, R M; Brenneise, E E

    1989-12-01

    Dentin dysplasia, type I, is a rare dental anomaly characterized by abnormal dentin formation affecting the roots of both primary and permanent teeth. Short, conical roots with occlusion of the pulp chamber and canal are produced. Periapical radiolucent areas are common, although no evidence of caries or trauma to the tooth may be seen. Coronal mantle dentin is unaffected, resulting in an apparently normal clinical crown. An abnormality may not be suspected until radiographs reveal pulp and root changes. Orthodontic treatment can be a successful variation of the usual treatment offered to patients, and is discussed in this case report.

  10. Histological and Ultrastructure Analysis of Dentin Dysplasia Type I in Primary Teeth: A Case Report.

    Science.gov (United States)

    Pintor, Andrea; Alexandria, Adilis; Marques, Andrea; Abrahao, Aline; Guedes, Fabio; Primo, Laura

    2015-01-01

    Dentin dysplasia type I (DD-I) is a rare human dentin disorder that may affect both the primary and permanent dentitions. The teeth present crowns with normal morphology but short or absent roots. Pulp chamber obliteration and early exfoliation of primary teeth are also observed. We describe herein the typical and atypical features of DD-I presented by a 6-year-old patient, the diagnostic rationale and assessment emphasizing the histological and scanning electron microscopic analysis and the therapeutic approach. The DD-I diagnosis in patients in the mixed dentition period is challenging, especially when only some teeth are affected.

  11. Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

    OpenAIRE

    Kantaputra, Piranit N; Klopocki, Eva; Hennig, Bianca P; Praphanphoj, Verayuth; Le Caignec, Cédric; Isidor, Bertrand; Kwee, Mei L; Shears, Deborah J; Mundlos, Stefan

    2010-01-01

    Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.2) encompassing ∼481 and 507 kb, separated by a segment of normal copy number. The more centromeric duplication encompasses the entire HOXD cluster, as well as the neighboring genes EVX2 and MTX2. The breakpoints of the d...

  12. Real-time detection of the mutation responsible for progressive rod-cone degeneration in Labrador Retriever dogs using locked nucleic acid TaqMan probes.

    Science.gov (United States)

    Gentilini, Fabio; Rovesti, Gian Luca; Turba, Maria Elena

    2009-09-01

    Progressive rod-cone degeneration (prcd) is a late onset, autosomal recessive, inherited disease in dogs caused by a G > A substitution in the PRCD locus. prcd has been reported in more than 18 breeds, including Labrador Retriever dogs. In this study, a real-time polymerase chain reaction (PCR) assay, exploiting the features of locked nucleic acid (LNA) fluorescent-labeled probes, was developed to genotype the sequence variants responsible for the disease. Two Labrador Retrievers were diagnosed with prcd by ophthalmological examination performed by a panelist of the Italian hereditary eye disease control program. The 2 dogs, as well as 8 related and 14 unrelated Labrador Retrievers, were genotyped with both direct sequencing of the disease locus and real-time LNA TaqMan PCR assay. Even though the region surrounding the mutation was predicted to be highly structured, making probe annealing difficult, the real-time PCR assay allowed researchers to correctly genotype the dogs in all cases with a sensitivity threshold of 4 ng/reaction of genomic DNA. A real-time PCR assay will allow a high-throughput analysis of a larger cohort of dogs, thereby enabling researchers to investigate the prevalence of the mutated allele in the affected breeds.

  13. Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

    Directory of Open Access Journals (Sweden)

    Said El Shamieh

    2015-01-01

    Full Text Available We report ophthalmic and genetic findings in families with autosomal recessive rod-cone dystrophy (arRCD and RP1 mutations. Detailed ophthalmic examination was performed in 242 sporadic and arRCD subjects. Genomic DNA was investigated using our customized next generation sequencing panel targeting up to 123 genes implicated in inherited retinal disorders. Stringent filtering coupled with Sanger sequencing and followed by cosegregation analysis was performed to confirm biallelism and the implication of the most likely disease causing variants. Sequencing identified 9 RP1 mutations in 7 index cases. Eight of the mutations were novel, and all cosegregated with severe arRCD phenotype, found associated with additional macular changes. Among the identified mutations, 4 belong to a region, previously associated with arRCD, and 5 others in a region previously associated with adRCD. Our prevalence studies showed that RP1 mutations account for up to 2.5% of arRCD. These results point out for the necessity of sequencing RP1 when genetically investigating sporadic and arRCD. It further highlights the interest of unbiased sequencing technique, which allows investigating the implication of the same gene in different modes of inheritance. Finally, it reports that different regions of RP1 can also lead to arRCD.

  14. Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa.

    Science.gov (United States)

    Fabera, Petr; Krijtova, Hana; Tomasek, Martin; Krysl, David; Zamecnik, Josef; Mohapl, Milan; Jiruska, Premysl; Marusic, Petr

    2015-09-01

    Focal cortical dysplasia (FCD) represents a common cause of refractory epilepsy. It is considered a sporadic disorder, but its occasional familial occurrence suggests the involvement of genetic mechanisms. Siblings with intractable epilepsy were referred for epilepsy surgery evaluation. Both patients were examined using video-EEG monitoring, MRI examination and PET imaging. They underwent left anteromedial temporal lobe resection. Electroclinical features pointed to left temporal lobe epilepsy and MRI examination revealed typical signs of left-sided hippocampal sclerosis and increased white matter signal intensity in the left temporal pole. PET examination confirmed interictal hypometabolism in the left temporal lobe. Histopathological examination of resected tissue demonstrated the presence FCD type IIIa, i.e. hippocampal sclerosis and focal cortical dysplasia in the left temporal pole. We present a unique case of refractory mesial temporal lobe epilepsy in siblings, characterized by an identical clinical profile and histopathology of FCD type IIIa, who were successfully treated by epilepsy surgery. The presence of such a high concordance between the clinical and morphological data, together with the occurrence of epilepsy and febrile seizures in three generations of the family pedigree points towards a possible genetic nature of the observed FCD type IIIa. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  15. Epileptogenic networks of type II focal cortical dysplasia: a stereo-EEG study.

    Science.gov (United States)

    Varotto, Giulia; Tassi, Laura; Franceschetti, Silvana; Spreafico, Roberto; Panzica, Ferruccio

    2012-07-02

    In the context of focal and drug-resistant epilepsy, surgical resection of the epileptogenic zone may be the only therapeutic option for reducing or suppressing seizures. In many such patients, intracranial stereo-EEG recordings remain the gold standard for the epilepsy surgery work-up. Assessing the extent of the epileptogenic zone and its organisation is a crucial objective, and requires advanced methods of signal processing. Over the last ten years, considerable efforts have been made to develop signal analysis techniques for characterising the connectivity between spatially distributed regions. The aim of this study was to evaluate the changes in dynamic connectivity pattern under inter-ictal, pre-ictal and ictal conditions using signals derived from stereo-EEG recordings of 10 patients with Taylor-type focal cortical dysplasia. A causal linear multivariate method - partial directed coherence - and indices derived from graph theory were used to characterise the synchronisation property of the lesional zone (corresponding to the epileptogenic zone in our patients) and to distinguish it from other regions involved in ictal activity or not. The results show that a significantly different connectivity pattern (mainly in the gamma band) distinguishes the epileptogenic zone from other cortical regions not only during the ictal event, but also during the inter- and pre-ictal periods. This indicates that the lesional nodes play a leading role in generating and propagating ictal EEG activity by acting as the hubs of the epileptic network originating and sustaining seizures. Our findings also indicate that the cortical regions beyond the dysplasia involved in the ictal activity essentially act as "secondary" generators of synchronous activity. The leading role of the lesional zone may account for the good post-surgical outcome of patients with type II focal cortical dysplasia as resecting the dysplasia removes the epileptogenic zone responsible for seizure organisation

  16. Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

    Science.gov (United States)

    Langereis, Eveline J; den Os, Matthijs M; Breen, Catherine; Jones, Simon A; Knaven, Olga C; Mercer, Jean; Miller, Weston P; Kelly, Paula M; Kennedy, Jim; Ketterl, Tyler G; O'Meara, Anne; Orchard, Paul J; Lund, Troy C; van Rijn, Rick R; Sakkers, Ralph J; White, Klane K; Wijburg, Frits A

    2016-03-02

    Dysostosis multiplex contributes substantially to morbidity in patients with Hurler syndrome (mucopolysaccharidosis type I Hurler phenotype [MPS I-H]), even after successful hematopoietic stem cell transplantation (HSCT). One of the hallmarks of dysostosis multiplex in MPS I-H is hip dysplasia, which often requires surgical intervention. We sought to describe in detail the course of hip dysplasia in this group of patients, as assessed by radiographic analysis, and to identify potential outcome predictors. Longitudinal data were obtained from digitally scored pelvic radiographs of patients with MPS I-H using OrthoGon software for parameters including, but not limited to, the acetabular index, migration percentage, Smith ratio, and neck-shaft angle. Scoring was performed independently by two blinded observers. Additional information on genotype, enzyme replacement therapy pre-HSCT, donor chimerism, and enzyme activity post-HSCT were obtained. General trends and potential correlations were calculated with mixed-model statistics. Fifty-two patients (192 radiographs) were included in this analysis. Intraobserver and interobserver variation analysis showed an intraclass correlation coefficient ranging from 0.78 to 1.00. Among the twenty-one patients with follow-up beyond the age of five years, the acetabular index was in the range of severe hip dysplasia in up to 86% of the patients. Severe coxa valga was seen in 91% of the patients. Lateral and superior femoral displacement were highly prevalent, with the migration percentage outside the reference range in up to 96% of the patients. Finally, anterior pelvic tilt increased with age (p = 0.001). No correlations were identified between clinical parameters and radiographic findings. Our study shows that progressive acetabular dysplasia as well as coxa valga and hip displacement are highly prevalent and progressive over time in patients with MPS I-H, despite successful HSCT. These data may provide essential natural history

  17. Prognosis of vulvar dysplasia and carcinoma in situ with special reference to histology and types of human papillomavirus (HPV)

    DEFF Research Database (Denmark)

    Junge, Jette; Poulsen, H; Horn, T

    1997-01-01

    is the involvement of the resection borders. The location of the lesion, the degree and type of dysplasia, and the type of HPV seem to play a minor role. Local excision and subsequent intensive control with removal of any visible new lesion probably prevents development of vulvar invasive carcinoma....

  18. Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

    Science.gov (United States)

    Bondioni, Maria Pia; Pazzaglia, Ugo Ernesto; Izzi, Claudia; Di Gaetano, Giuseppe; Laffranchi, Francesco; Baldi, Maurizia; Prefumo, Federico

    2017-11-01

    The purpose of the paper was to assess the morphometric parameters to improve the specificity of the ultrasound (US) signs for the early differential diagnosis between two lethal dysplasias, as thanatophoric dysplasia (TD) and osteogenesis imperfecta type 2 (OI-2). The diaphyseal length and the bowed shape of long bones associated with vertebral body dimension assessment were investigated in a group of 14 pregnancy terminations carried out in the time period 2007-2013. The definitive diagnosis was established after pregnancy termination by means of skeletal standardized X-rays, histopathology and gene analysis. TD and OI-2 long bones were significantly shorter than controls. No significant differences were observed between the two dysplasias. The bowing angle was higher in OI-2; a true angulation or eventually axial displacement was present only in the latter. Furthermore, they did not show any evidence of vertebral collapse. The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies. Long bone shortening is not a sufficient and accurate sign for early sonographic differential diagnosis between TD and OI-2. Angled diaphysis, axial diaphyseal displacement and a conserved vertebral body height in the prenatal period support the diagnosis of osteogenesis imperfecta type 2, while moderately regular bowed diaphysis associated with platyspondyly that of thanatophoric dysplasia.

  19. Genetics Home Reference: mandibuloacral dysplasia

    Science.gov (United States)

    ... a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two ... of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy ( ...

  20. Relationship of herpes simplex virus type-2 antibodies and squamous dysplasia to cervical carcinoma in situ.

    Science.gov (United States)

    Thomas, D B; Rawls, W E

    1978-12-01

    Serum specimens from 75 women with cervical carcinoma in situ, 84 with squamous dysplasia, and 132 controls, who had previously been interviewed and tested for complement fixing antibodies against a number of organisms, were analyzed for HSV-2 antibodies. Carcinoma in situ and severe dysplasia were associated with HSV-2 antibodies. Mild dysplasia was related to evidence of prior infection by Trichomonas vaginalis, adenoviruses, and Mycoplasma pneumoniae, plus a history of vaginal discharge. Severe dysplasia was less strongly related to these variables. The relative risk of dysplasia increased with the number of different pathogens by which a woman had been infected. It is concluded that HSV-2 may be a cause of carcinoma in situ; that much dysplasia is a nonspecific reaction of the cervical epithelium to chronic inflammation; and that dysplastic lesions that are caused by HSV-2, and hence may be a precursor to carcinoma in situ, tend to be distinguished by their severity.

  1. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

    Science.gov (United States)

    Ben Yaou, Rabah; Navarro, Claire; Quijano-Roy, Susana; Bertrand, Anne T; Massart, Catherine; De Sandre-Giovannoli, Annachiara; Cadiñanos, Juan; Mamchaoui, Kamel; Butler-Browne, Gillian; Estournet, Brigitte; Richard, Pascale; Barois, Annie; Lévy, Nicolas; Bonne, Gisèle

    2011-06-01

    Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as the lethal neonatal restrictive dermopathy syndrome. Phenotype severity is correlated with the residual enzyme activity of ZMPSTE24 and accumulation of prelamin A. We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia. In this study, we report a 30-year longitudinal clinical survey of a patient harboring a novel severe and complex phenotype, combining an early-onset progeroid syndrome and a congenital myopathy with fiber-type disproportion. A unique homozygous missense ZMPSTE24 mutation (c.281T>C, p.Leu94Pro) was identified and predicted to produce two possible ZMPSTE24 conformations, leading to a partial loss of function. Western blot analysis revealed a major reduction of ZMPSTE24, together with the presence of unprocessed prelamin A and decreased levels of lamin A, in the patient's primary skin fibroblasts. These cells exhibited significant reductions in lifespan associated with major abnormalities of the nuclear shape and structure. This is the first report of MAD presenting with confirmed myopathic abnormalities associated with ZMPSTE24 defects, extending the clinical spectrum of ZMPSTE24 gene mutations. Moreover, our results suggest that defective prelamin A processing affects muscle regeneration and development, thus providing new insights into the disease mechanism of prelamin A-defective associated syndromes in general.

  2. Exclusion of linkage between RET and Neuronal Intestinal Dysplasia type B

    Energy Technology Data Exchange (ETDEWEB)

    Barone, V.; Yin Luo; Brancolini, V.; Romeo, G. [Instituto G. Gaslini, Genova (Italy); Weber, D. [Children`s Hospital, Luzern (Switzerland); Brancolini, V.; Devoto, M. [Columbia Univ., New York, NY (United States)

    1996-03-15

    Neuronal Intestinal Dysplasia type B (NID B) is a complex alteration of the enteric nervous system belonging to the group of intestinal dysganglionoses which may involve rectum, colon, and small intestine. Second only to Hirschsprung diseases (HSCR), NID B is one of the most frequent causes of chronic constipation and pseudo-obstructive intestinal dysmotility. Since NID B is often associated with HSCR and point mutations in the RET proto-oncogene have been identified in HSCR patients, we analyzed two NID B pedigrees to investigate if RET mutations might cause also the NID B phenotype. Linkage analysis demonstrated that the NID B locus is not linked to RET in the pedigrees analysed. Further genetic analyses will possibility improve the understanding of the cause and facilitate diagnostic procedures in NID B. 20 refs., 1 fig., 2 tabs.

  3. Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

    Science.gov (United States)

    Holder-Espinasse, Muriel; Fayoux, Pierre; Morillon, Sandrine; Fourier, Catherine; Dieux-Coeslier, Anne; Manouvrier-Hanu, Sylvie; Le Merrer, Martine; Hall, Christine M

    2004-07-01

    The spondyloepimetaphyseal dysplasias (SEMD) are a large, genetically heterogeneous group of disorders of variable severity, which are classified according to their clinical and radiological features. SEMD with multiple dislocations (Hall type) has been recently delineated (MIM 603546). This condition is characterized by striking epiphyseal and metaphyseal changes in the long bones, joint laxity, multiple dislocations of the large joints including the knees, and dysmorphic features including a short and upturned nose with a depressed nasal bridge and midface hypoplasia. An autosomal dominant mode of inheritance has been suggested. We report a further patient with a mild form of this condition and persistent inspiratory stridor secondary to laryngeal stenosis. This complication has been reported in previous reports and is certainly an important diagnostic feature.

  4. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

    Science.gov (United States)

    Guo, Long; Elcioglu, Nursel H; Mizumoto, Shuji; Wang, Zheng; Noyan, Bilge; Albayrak, Hatice M; Yamada, Shuhei; Matsumoto, Naomichi; Miyake, Noriko; Nishimura, Gen; Ikegawa, Shiro

    2017-08-01

    Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and brachydactyly. Although these phenotypes overlap considerably with some known SEMDs, they had a novel causal gene, exostosin-like glycosyltransferase 3 (EXTL3), that encodes a glycosyltransferase involved in the synthesis of heparin and heparan sulfate. The EXTL3 mutation identified in the patients was a homozygous missense mutation (c.953C>T) that caused a substitution in a highly conserved amino acid (p.P318L). The enzyme activity of the mutant EXTL3 protein was significantly decreased compared to the wild-type protein. Both patients had spinal cord compression at the cranio-vertebral junction and multiple liver cysts since early infancy. One of the patients showed severe immunodeficiency, which is considered non-fortuitous association. Our findings would help define a novel type of SEMD caused by EXTL3 mutations.

  5. Focal cortical dysplasia type IIa and IIb: MRI aspects in 118 cases proven by histopathology

    Energy Technology Data Exchange (ETDEWEB)

    Colombo, Nadia; Citterio, Alberto [Ospedale Ca Granda Niguarda, Department of Neuroradiology, Milano (Italy); Tassi, Laura; Mai, Roberto; Sartori, Ivana; Cardinale, Francesco; Lo Russo, Giorgio [Ospedale Niguarda, Claudio Munari Epilepsy Surgery Center, Milano (Italy); Deleo, Francesco; Spreafico, Roberto [IRCCS Foundation Neurological Institute ' ' C. Besta' ' , Department of Epilepsy Clinic and Experimental Neurophysiology, Milano (Italy); Bramerio, Manuela [Ospedale Niguarda, Department of Pathology, Milano (Italy)

    2012-10-15

    This study aims to review the magnetic resonance imaging (MRI) aspects of a large series of patients with focal cortical dysplasia type II (FCD II) and attempt to identify distinctive features in the two histopathological subtypes IIa and IIb. We retrospectively reviewed the MRI scans of 118 patients with histological proven FCD IIa (n = 37) or IIb (n = 81) who were surgically treated for intractable epilepsy. MRI was abnormal in 93 patients (79 %) and unremarkable in 25 (21 %). A dysplastic lesion was identified in 90 cases (97 %) and classified as FCD II in 83 and FCD non-II in seven cases. In three cases, the MRI diagnosis was other than FCD. There was a significant association between the presence of cortical thickening (p = 0.002) and the ''transmantle sign'' (p < 0.001) and a correct MRI diagnosis of FCD II. MRI positivity was more frequent in the patients with FCD IIb than in those with FCD IIa (91 % vs. 51 %), and the detection rate of FCD II was also better in the patients with type IIb (88 % vs. 32 %). The transmantle sign was significantly more frequent in the IIb subgroup (p = 0.003). The rates of abnormal MRI results and correct MRI diagnoses of FCD II were significantly higher in the IIb subgroup. Although other MRI stigmata may contribute to the diagnosis, the only significant correlation was between the transmantle sign and FCD IIb. (orig.)

  6. Pseudoaneurysm Accompanied by Crowe Type IV Developmental Dysplasia of the Hip: A Case Report

    Directory of Open Access Journals (Sweden)

    Hirotake Yo

    2012-01-01

    Full Text Available We report the case of a 72-year-old woman whose pseudoaneurysm was difficult to diagnose and treat. The patient had a history of congenital dislocated hip and was undergoing anticoagulation therapy with warfarin due to the mitral valve replacement. Her chief complaint was pain and enlargement of the left buttock, and the laboratory tests revealed severe anemia. However, her elderly depression confused her chief complaint, and she was transferred to a psychiatric hospital. Two months after the onset of the symptoms, she was finally diagnosed with a pseudoaneurysm by contrast-enhanced CT and angiography. IDC coils were used for embolization. A plain CT showed hemostasis as well as a reduced hematoma at 2 months after the embolization. The possible contributing factors for the pseudoaneurysm included bleeding due to warfarin combined with an intramuscular hematoma accompanied by Crowe type IV developmental dysplasia of the hip that led to an arterial rupture by impingement between pelvis and femoral head. Since the warfarin treatment could not be halted due to the valve replacement, embolization was chosen for her treatment, and the treatment outcome was favorable.

  7. Long-duration epilepsy affects cell morphology and glutamatergic synapses in type IIB focal cortical dysplasia.

    Science.gov (United States)

    Finardi, Adele; Colciaghi, Francesca; Castana, Laura; Locatelli, Denise; Marras, Carlo Efisio; Nobili, Paola; Fratelli, Maddalena; Bramerio, Manuela Adele; Lorusso, Giorgio; Battaglia, Giorgio Stefano

    2013-08-01

    To investigate hypothesized effects of severe epilepsy on malformed cortex, we analyzed surgical samples from eight patients with type IIB focal cortical dysplasia (FCD) in comparison with samples from nine non-dysplastic controls. We investigated, using stereological quantification methods, where appropriate, dysplastic neurons, neuronal density, balloon cells, glia, glutamatergic synaptic input, and the expression of N-methyl-D-aspartate (NMDA) receptor subunits and associated membrane-associated guanylate kinase (MAGUK). In all FCD patients, the dysplastic areas giving rise to epileptic discharges were characterized by larger dysmorphic neurons, reduced neuronal density, and increased glutamatergic inputs, compared to adjacent areas with normal cytology. The duration of epilepsy was found to correlate directly (a) with dysmorphic neuron size, (b) reduced neuronal cell density, and (c) extent of reactive gliosis in epileptogenic/dysplastic areas. Consistent with increased glutamatergic input, western blot revealed that NMDA regulatory subunits and related MAGUK proteins were up-regulated in epileptogenic/dysplastic areas of all FCD patients examined. Taken together, these results support the hypothesis that epilepsy itself alters morphology-and probably also function-in the malformed epileptic brain. They also suggest that glutamate/NMDA/MAGUK dysregulation might be the intracellular trigger that modifies brain morphology and induces cell death.

  8. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

    Energy Technology Data Exchange (ETDEWEB)

    Tueysuez, Beyhan [Istanbul University, Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul (Turkey); Gazioglu, Nurperi [Istanbul University, Department of Neurosurgery, Cerrahpasa Medical School, Istanbul (Turkey); Uenguer, Savas [Istanbul University, Department of Pediatric Radiology, Cerrahpasa Medical School, Istanbul (Turkey); Aji, Dolly Yafet [Istanbul University, Department of Pediatrics, Cerrahpasa Medical School, Istanbul (Turkey); Tuerkmen, Seval [Istanbul University, Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul (Turkey); Universitatsklinikum Berlin, Charite Virchow-Klinik, Berlin (Germany)

    2009-01-15

    A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered. (orig.)

  9. Surgical outcomes in two different age groups with Focal Cortical Dysplasia type II: Any real difference?

    Science.gov (United States)

    Ramírez-Molina, Jorge Luis; Di Giacomo, Roberta; Mariani, Valeria; Deleo, Francesco; Cardinale, Francesco; Uscátegui-Daccarett, Angélica María; Lorenzana, Pablo; Tassi, Laura

    2017-05-01

    Focal Cortical Dysplasias (FCDs) represent a common architectural cortical disorder underlying drug-resistant focal epilepsy. So far, studies aimed at evaluating whether age at surgery is a factor influencing surgical outcome are lacking, so that data on the comparison between patients harboring Type II FCD operated at younger age and those operated at adult age are still scarce. We compared presurgical clinical features and surgical outcomes of patients with histopathologically diagnosed Type II FCD undergoing surgery at an earlier age with those operated after 20 years of age. We retrospectively analyzed 1660 consecutive patients operated at the "Claudio Munari" Epilepsy Surgery Centre. There were 289 patients (17.4%) with a neuropathological diagnosis of Type II FCD. We included two different groups of patients, the first one including patients operated on at less than 6years, the second sharing the same seizure onset age but with delayed surgery, carried out after the age of 20. Seizure characteristics and, neuropsychological and postoperative seizure outcomes were evaluated by study group. Forty patients underwent surgery before the age of 6 and 66 patients after the age of 20. Surgical outcome was favorable in the whole population (72.6% were classified in Engel's Class Ia+Ic), independently from age at surgery. In the children group, 32 patients were classified in Class I, including 30 (75%) children in classes Ia and Ic. In the adult group, 53 belonged to Class I of whom 47 (71%) were in classes Ia and Ic. The percentage of permanent complications, the surgical outcomes, and AED withdrawal did not significantly differ by study group. Our results indicate that there is no difference between the groups, suggesting that outcome depends mainly on the histological findings and not on timing of surgery. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

    Science.gov (United States)

    Olney, Robert C; Prickett, Timothy C R; Espiner, Eric A; Mackenzie, William G; Duker, Angela L; Ditro, Colleen; Zabel, Bernhard; Hasegawa, Tomonobu; Kitoh, Hiroshi; Aylsworth, Arthur S; Bober, Michael B

    2015-02-01

    C-type natriuretic peptide (CNP) is a crucial regulator of endochondral bone growth. In a previous report of a child with acromesomelic dysplasia, Maroteaux type (AMDM), caused by loss-of-function of the CNP receptor (natriuretic peptide receptor-B [NPR-B]), plasma levels of CNP were elevated. In vitro studies have shown that activation of the MAPK kinase (MEK)/ERK MAPK pathway causes functional inhibition of NPR-B. Achondroplasia, hypochondroplasia, and thanatophoric dysplasia are syndromes of short-limbed dwarfism caused by activating mutations of fibroblast growth factor receptor-3, which result in overactivation of the MEK/ERK MAPK pathway. The purpose of this study was to determine whether these syndromes exhibit evidence of CNP resistance as reflected by increases in plasma CNP and its amino-terminal propeptide (NTproCNP). This was a prospective, observational study. Participants were 63 children and 20 adults with achondroplasia, 6 children with hypochondroplasia, 2 children with thanatophoric dysplasia, and 4 children and 1 adult with AMDM. Plasma levels of CNP and NTproCNP were higher in children with achondroplasia with CNP SD scores (SDSs) of 1.0 (0.3-1.4) (median [interquartile range]) and NTproCNP SDSs of 1.4 (0.4-1.8; P achondroplasia (CNP SDSs of 1.5 [0.7-2.1] and NTproCNP SDSs of 0.5 [0.1-1.0], P < .005). In children with hypochondroplasia, CNP SDSs were 1.3 (0.7-1.5) (P = .08) and NTproCNP SDSs were 1.9 (1.8-2.3) (P < .05). In children with AMDM, CNP SDSs were 1.6 (1.4-3.3) and NTproCNP SDSs were 4.2 (2.7-6.2) (P < .01). In these skeletal dysplasias, elevated plasma levels of proCNP products suggest the presence of tissue resistance to CNP.

  11. Ectodermal dysplasia

    Science.gov (United States)

    ... a wig and dentures to improve appearance. Use artificial tears to replace normal tearing and prevent drying ... dysplasia while the baby is still in the womb. Alternative Names Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine ...

  12. Bronchopulmonary dysplasia

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001088.htm Bronchopulmonary dysplasia To use the sharing features on this page, please enable JavaScript. Bronchopulmonary dysplasia (BPD) is a long-term ( chronic ) lung condition ...

  13. Focal cortical dysplasia type IIb: completeness of cortical, not subcortical, resection is necessary for seizure freedom.

    Science.gov (United States)

    Wagner, Jan; Urbach, Horst; Niehusmann, Pitt; von Lehe, Marec; Elger, Christian E; Wellmer, Jörg

    2011-08-01

    Focal cortical dysplasia type IIb (FCD IIb) lesions are highly epileptogenic and frequently cause pharmacoresistant epilepsy. Complete surgical resection leads to seizure freedom in most cases. However, the term "complete" resection is controversial with regard to the necessity of performing resections of the subcortical zone, which is frequently seen in these lesions on magnetic resonance imaging (MRI). We retrospectively analyzed 50 epilepsy patients with histologically proven FCD IIb. The extent of surgical resection was determined by SPM5-based coregistration of the preoperative and postoperative MRI scans. Postoperative outcome was analyzed with regard to (1) the completeness of the resection of the cortical abnormality and (2) the completeness of the resection of the subcortical abnormality. Complete resection of the cortical abnormality led to postoperative seizure freedom (Engel class Ia) in 34 of 37 patients (92%), whereas incomplete cortical resection achieved this in only one of 13 patients (8%, p < 0.001). Among the patients with complete cortical resection, 36 had FCDs with a subcortical hyperintensity according to MRI. In this group, complete resection of the subcortical abnormality did not result in a better postoperative outcome than incomplete resection (90% vs. 93% for Engel class Ia, n.s.). Complete resection of the MRI-documented cortical abnormality in FCD IIb is crucial for a favorable postoperative outcome. However, resection of the subcortical hyperintense zone is not essential for seizure freedom. Therefore, sparing of the subcortical white matter may reduce the surgical risk of encroaching on relevant fiber tracts. In addition, these findings give an interesting insight into the epileptogenic propensity of different parts of these lesions. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

  14. [Pavlik harness for the treatment of congenital hip dysplasia types D III and IV].

    Science.gov (United States)

    Zajonz, D; Strobel, S; Wojan, M; von der Höh, N; Brandmaier, P; Josten, C; Schumann, E; Heyde, C-E

    2016-01-01

    Up to 4% of all neonates in Central Europe are born with congenital hip dysplasia (CHD), the most common congenital disease of the musculoskeletal system. However, in this retrospective analysis the outcomes of infants with CHD (type D, III or IV according to Graf) have been considered, with Pavlik therapy starting within the first 12 weeks of life. Connections between the start of therapy or the first finding according to Graf`s classification and the ultrasound result achieved, as well as the X-rays taken after 1 and 2 years, were evaluated. No repositioning under Pavlik treatment or side effects and their relevance have been evaluated, especially with regard to avascular necrosis (AVN) of the femoral head. All infants treated using Pavlik treatment for CHD between 2010 and 2012 in our clinic were determined. A total of 62 patients with 79 pathological hips were included. The infants were classified into three groups to evaluate the influence of the start of therapy on the result: group I with the first investigation and start of treatment within the first 10 days of life, group II between the 11th day and the end of week 3, group III within preventive general examinations (U3) after the 4th week. Clinical examinations and the usual ultrasound scans were performed at an average of 1, 3, and 6 months. Furthermore, after 1 and 2 years clinical and radiological investigations were carried out, as well as further examinations depending on the findings. A failure of repositioning of the Pavlik treatment occurred in group I in 1 case (2.2%), in group II in 1 case (7.1%), and in group III in 2 cases (10%). This occurs in hips type D and type III in 1 case each (3.3%) and type IV in 2 cases (10.5%). Maturation disorders of the hips were found in 1 case (2.2%) in group I, 1 case (7.1%) in group II, and 3 cases (15%) in group III. Avascular necrosis of the femoral head was proven in 2 cases (4.4%) in group I, 0% in group II, and in 1 case (5%) in group III. All patients

  15. 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.

  16. Substitution of aspartate for glycine 103 of the type II collagen triple helical domain: Identification of the minimal mutation which can produce Kniest dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Wilkin, D.J.; Rimoin, D.L.; Cohn, D.H. [Cedars-Sinai Medical Center, Los Angeles, CA (United States)] [and others

    1994-09-01

    Kniest dysplasia is an autosomal dominant chondrodysplasia which results from mutations in the gene for type II collagen, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. Recently, deletions of all or part of exon 12 have been identified in individuals with Kniest dysplasia, suggesting that mutations within this region of the protein may primarily result in the Kniest dysplasia phenotype. We used SSCP to analyze an amplified genomic DNA fragment containing exon 12 from 7 individuals with Kniest dysplasia. An abnormality was identified in one patient. DNA sequence analysis demonstrated that the patient was heterozygous for a G to A transition that implied substitution of glycine{sup 103} of the triple helix by aspartate. The mutation was not observed in DNA from either of the proband`s parents. Protein microsequencing demonstrated expression of the abnormal allele in the proband`s cartilage, indicating that the Kniest phenotype results from the presence of abnormal type II collagen molecules in the extracellular matrix. These data demonstrate the minimal mutation which can produce Kniest dysplasia and further support the hypothesis that alteration of a domain which includes the region encoded by exon 12 in the type II collagen protein leads to this disorder. Experiments designed to identify specific effects that mutations in this region have on intermolecular interactions among abnormal type II collagen molecules and other components of the cartilage extracellular matrix may clarify the underlying pathophysiology of Kniest dysplasia.

  17. PI3K-AKT pathway polymerase chain reaction (PCR) array analysis of epilepsy induced by type II focal cortical dysplasia.

    Science.gov (United States)

    Lin, Y X; Lin, K; Liu, X X; Kang, D Z; Ye, Z X; Wang, X F; Zheng, S F; Yu, L H; Lin, Z Y

    2015-08-21

    The aims of this study were to observe the differential expression of PI3K-AKT pathway-related genes in seizure-inducing brain lesions in type II focal cortical dysplasia, and to explore the relationship between gene expression and histological changes in dysplastic foci and their epileptogenic mechanism. Typical lesions in brain tissue from three patients with epilepsy induced by type II focal cortical dysplasia were selected for analysis, along with normal brain tissue from two control group individuals. Following quantitative expression analysis using the RT2 Profiler(TM) PI3K-AKT PCR Array, differential expression of the pathway related genes was detected in the focal brain tissue lesions, and gene function queries were performed. Compared with the control group, thirteen related genes appeared to exhibit marked differences in expression in epileptic lesions from patients with type II focal cortical dysplasia; those genes were found to be involved in regulation of cell size, morphology, adhesion, migration, and apoptosis, and in immunity, inflammation, and many other domains. The differential expression of multiple genes in the PI3K-AKT signaling pathway in type II focal cortical dysplasia may be an important molecular mechanism underlying histological changes and recurrent seizures.

  18. Bronchopulmonary dysplasia

    National Research Council Canada - National Science Library

    Deakins, Kathleen M

    2009-01-01

    Bronchopulmonary dysplasia (BPD) is the most common chronic respiratory disease that results from complications related to the lung injury during the treatment of respiratory distress syndrome, or develops in older infants when...

  19. [Bronchopulmonary dysplasia].

    Science.gov (United States)

    Monte, Luciana F Velloso; Silva Filho, Luiz Vicente F da; Miyoshi, Milton Harumi; Rozov, Tatiana

    2005-01-01

    To present a wide-ranging review of the literature on broncopulmonary dysplasia, covering new definitions, pathophysiology, prevention, treatment, prognosis and progression. The most relevant articles published on the subject since it was first described in 1967 were selected from MEDLINE search results. Bronchopulmonary dysplasia is considered one of the primary causes of chronic lung disease among infants. It is associated with frequent and prolonged hospital admissions, in particular for pulmonary diseases, with high rates of mortality and alterations to neuropsychomotor development and pondero-statural growth. Pathogenesis is complex, being primarily influenced by prematurity, infection, supplementary oxygen and mechanical ventilation. Prevention involves appropriate prenatal care, the prevention of premature delivery, prenatal corticosteroids, surfactant replacement therapy and "protective" ventilatory strategies. Treatment of bronchopulmonary dysplasia patients demands a multidisciplinary team. When indicated, oxygen supplementation is extremely important. Despite increased risk of morbidity and mortality during the first years of life, long term progress is favorable in the majority of cases. Bronchopulmonary dysplasia has been and continues to be studied in great depth with the objective of identifying its causes and possible prevention and treatment strategies. Controversies remain with respect of these issues and also about the prognosis of these patients, in particular when the subject is long-term progress of "new" bronchopulmonary dysplasia patients.

  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. B-type natriuretic peptide is a biomarker for pulmonary hypertension in preterm infants with bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Cuna A

    2013-05-01

    Full Text Available Alain Cuna,1 Jegen Kandasamy,1 Naomi Fineberg,2 Brian Sims1 1Department of Pediatrics, Division of Neonatology, 2Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA Background: B-type natriuretic peptide (BNP is a cardiac biomarker useful in screening for pulmonary hypertension (PH in adults. It is possible that BNP may also be useful in detecting PH among preterm infants with bronchopulmonary dysplasia (BPD. Objective: To determine the utility of BNP for identification of PH among preterm infants with BPD. Methods: We retrospectively identified preterm infants with BPD who underwent screening echocardiography for suspected PH and had serum BNP levels measured within 10 days before or after echocardiography. Eligible infants were classified based on echocardiographic diagnosis of either PH or no PH. Median and interquartile ranges (IQR of BNP values were compared, and area under the curve (AUC of receiver operator characteristic (ROC analysis was used to determine the optimum threshold value for detection of PH. Results: Twenty-five preterm infants with BPD (mean gestational age 26.5 ± 1.7 weeks, mean birth weight 747 ± 248 g were identified. The median difference in days between echocardiography and BNP measurement was 1 day (IQR 0–3, range 0–10 days. Based on echocardiography, 16 were diagnosed with PH and nine without PH. No significant difference in terms of gestational age, birth weight, sex, race, or respiratory support was found between the two groups. Median (IQR BNP values of those with PH were higher than those without PH (413 [212–1178] pg/mL versus 55 [21–84] pg/mL, P < 0.001. AUC of ROC analysis showed that a BNP value of 117 pg/mL had 93.8% sensitivity and 100% specificity for detecting PH. Conclusion: BNP estimation may be useful for screening of PH in infants with BPD. Keywords: B-type natriuretic peptide, pulmonary hypertension, bronchopulmonary dysplasia, biological markers

  2. Frontofacionasal Dysplasia

    African Journals Online (AJOL)

    rme

    palpebral fissures, deformed nostrils, hypoplastic nasal wing, cleft lip, cleft palate and meningeocele. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia and in our case is associated with facial heamangioma. To our knowledge, facial heamangioma in association with. FFND have not been ...

  3. Pseudoachondroplastic dysplasia.

    Directory of Open Access Journals (Sweden)

    Khungar A

    1993-04-01

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

  4. 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

  5. A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.

    Science.gov (United States)

    Kim, Ok-Hwa; Cho, Tae-Joon; Song, Hae-Ryong; Chung, Chin Youb; Miyagawa, Shin-Ichiro; Nishimura, Gen; Superti-Furga, Andrea; Unger, Sheila

    2009-08-01

    This study presents seven cases of a rare but distinctive form of spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic or Hall type to emphasize the characteristic clinical and radiological findings. A multiinstitutional retrospective review was performed on seven patients. The patient population consisted of one family with an affected mother and two siblings and four unrelated patients; there were one adult, aged 40 years, and six children, ranging in age from 3 to 12 years. The gender ratio of females to males was 5 to 2. We reviewed the clinical data and skeletal surveys and focused on radiographs of the pelvis, knees, hands, and spine. The outstanding clinical features were short stature, midface hypoplasia, and multiple dislocations and/or ligamentous laxity of the large joints, particularly at the knees with a genu valgum or varum deformity. Of seven patients, six patients showed normal intellect but one patient had mild mental retardation. The main radiological features included small, irregular epiphyses, metaphyseal irregularity with vertical striations that was a constant finding at the knees, constricted femoral necks, delayed ossification of the carpal bones, and slender metacarpals. Progressive thoracolumbar scoliosis was evident with aging; however, the vertebral bodies appeared normal in height or mild platyspondyly was noted. In view of the orthopedic management of multiple joint dislocations and ligamentous laxity of the large joints, awareness of this disease entity and diagnostic precision solely based on radiological findings is of importance, particularly as the disorder is currently more common than initially reported.

  6. A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok-Hwa [Ajou University Hospital, Department of Radiology, Suwon (Korea); Cho, Tae-Joon [Seoul National University Children' s Hospital, Department of Orthopaedic Surgery, Seoul (Korea); Song, Hae-Ryong [Korea University Guro Hospital, Department of Othopaedic Surgery, Seoul (Korea); Chung, Chin Youb [Seoul National University Bundang Hospital, Department of Orthopaedic Surgery, Gyeonggi (Korea); Miyagawa, Shin-Ichiro [National Hospital Organization Kure Medical center, Department of Pediatrics, Hiroshima (Japan); Nishimura, Gen [Kiyose Children' s Hospital, Department of Radiology, Tokyo (Japan); Superti-Furga, Andrea [University of Freiburg, Departement of Pediatrics, Freiburg (Germany); Unger, Sheila [Institute of Human Genetics, University of Freiburg, Freiburg (Germany)

    2009-08-15

    This study presents seven cases of a rare but distinctive form of spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic or Hall type to emphasize the characteristic clinical and radiological findings. A multiinstitutional retrospective review was performed on seven patients. The patient population consisted of one family with an affected mother and two siblings and four unrelated patients; there were one adult, aged 40 years, and six children, ranging in age from 3 to 12 years. The gender ratio of females to males was 5 to 2. We reviewed the clinical data and skeletal surveys and focused on radiographs of the pelvis, knees, hands, and spine. The outstanding clinical features were short stature, midface hypoplasia, and multiple dislocations and/or ligamentous laxity of the large joints, particularly at the knees with a genu valgum or varum deformity. Of seven patients, six patients showed normal intellect but one patient had mild mental retardation. The main radiological features included small, irregular epiphyses, metaphyseal irregularity with vertical striations that was a constant finding at the knees, constricted femoral necks, delayed ossification of the carpal bones, and slender metacarpals. Progressive thoracolumbar scoliosis was evident with aging; however, the vertebral bodies appeared normal in height or mild platyspondyly was noted. In view of the orthopedic management of multiple joint dislocations and ligamentous laxity of the large joints, awareness of this disease entity and diagnostic precision solely based on radiological findings is of importance, particularly as the disorder is currently more common than initially reported. (orig.)

  7. [Total hip arthroplasty for crowe type IV developmental dysplasia of the hip with S-ROM prosthesis].

    Science.gov (United States)

    Sun, Qi-Cai; Wang, Xiang-Hua; Song, Bai-Shan; Zhu, Fang-Bing; Yan, Shi-gui

    2013-02-01

    To develop the techniques of total hip arthroplasty(THA) for Crowe type IV developmental dysplasia of the hip (DDH) with S-ROM prosthesis,and to assess its clinical results. From October 2000 to October 2011,30 patients (36 hips) with Crowe type IV DDH underwent THA,including 6 patients with bilateral hip involved and 24 patients with unilateral. S-ROM prosthesis was adopted together with subtrochanteric transverse osteotomy. All the cementless acetabular cups were placed at the original anatomic location. The threaded cups were put in or near the level of the true acetabulum in all patients. Full coating stems were used in femoral side. All the patients were evaluated by using the Modified Harris Hip Score. Radiographic evaluations were made preoperatively and during follow-up. Two patients lost of follow-up. Twenty-seven patients with 32 hips were followed up,and the average duration was 48 months (ranging from 7 to 84 months). There was 1 patient with bilateral THA died from hemorrhagic shock. Two patients could walk freely with the visible fracture lines at 12th and 18th months postoperatively. There were no complications such as infection or nerve injuries. Modified Harris Hip Score improved from preoperative 41.7+/-3.7 to postoperative 89.1+/-2.9. There was no acetabular or femoral component revision because of mal-position or loosening of the prostheses in all patients. Postoperative X-ray showed that all the prostheses in place,good integration between acetabular cups,femoral prosthesis and host bone without loosening. All bone grafts were integrated. All the hips acquired union of osteotomy and bone in-growth. None of the patients had radiographic evidence of aseptic loosening of prosthesis. For the complex DDH, follow methods should be used to improve therapeutic effects:good exposure of the true acetabulum,deepen acetabulum, femoral shortening, oblique osteotomy, using the S-ROM prosthesis.

  8. Procollagen type-III aminoterminal peptide in serum and synovial fluid of dogs with hip dysplasia and coxarthrosis

    DEFF Research Database (Denmark)

    Madsen, J S; Jensen, L T; Strøm, H

    1990-01-01

    -III-NP) concentration was measured in serum and in synovial fluid from coxofemoral joints in 20 dogs. Dogs were grouped on the basis of evidence of dysplasia and osteoarthritic changes of the hip: (1) a control group of 6 dogs without clinical or radiographic signs of hip dysplasia, and (2) dysplastic group of 14 dogs......Hip dysplasia is an affection of the coxofemoral joint that progresses until stabilization is caused by fibrosis and osteoarthritic changes. This stabilization process can be examined by clinical and radiographic methods. The capability of evaluating the procollagen concentrations in liquids...... significantly (P less than 0.05) higher in dogs in which results of the Ortolani test were positive....

  9. Neuromuscular Hip Dysplasia in Charcot-Marie-Tooth Disease Type 1A

    Science.gov (United States)

    Bamford, Nigel S.; White, Klane K.; Robinett, Stephanie A.; Otto, Randolph K.; Gospe, Sidney M., Jr.

    2009-01-01

    Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting 36 in 100,000 people. CMT type 1A (hereditary motor and sensory neuropathy) is the most frequent form of this disease, affecting 60 to 80% of the CMT population, but its diagnosis may be delayed because of inconsistent clinical signs and…

  10. Tibial lengthening for unilateral Crowe type-IV developmental dysplasia of the hip

    Directory of Open Access Journals (Sweden)

    Jun Wan

    2014-01-01

    Conclusions: Tibial lengthening may effectively correct gait and satisfactorily improve body image in young patients with unilateral Crowe type-IV DDH. Mono-lateral external fixator allows for accelerated postoperative rehabilitation and optimal preservation of ankle movements. Lengthening along with intramedullary nails may significantly reduce the external fixation time and the risk of fixator-related complications.

  11. A multidisciplinary approach to sphenoid wing dysplasia presenting with pulsatile proptosis in neurofibromatosis Type 1: A rare case report

    Directory of Open Access Journals (Sweden)

    S Prathibha

    2018-01-01

    Full Text Available Neurofibromatosis (NF with sphenoid wing dysplasia is a rare clinical entity. Herewith, we present a case of NF with sphenoid wing dysplasia which presented with pulsatile progressive proptosis. Other ocular symptoms or visual disturbances were absent. Diagnosis of the condition was not easy and the management was a challenging task which needed multidisciplinary approach as there were ocular, neurological, orthopedic, and dermatological manifestations. With neurosurgical intervention, reconstruction of the sphenoid wing was possible. Proptosis was corrected without any disturbance of vision.

  12. Prognosis of vulvar dysplasia and carcinoma in situ with special reference to histology and types of human papillomavirus (HPV)

    DEFF Research Database (Denmark)

    Junge, Jette; Poulsen, H; Horn, T

    1997-01-01

    Sixty-one women with vulvar dysplasia or carcinoma in situ were treated with local laser excision of the initial lesion and of the recurrences, and followed at intervals of from 3 increasing to 12 months. Recurrences were observed in 16 (26%) patients. No case of invasive carcinoma was seen. Pati...

  13. Downregulation of CD47 and CD200 in patients with focal cortical dysplasia type IIb and tuberous sclerosis complex.

    Science.gov (United States)

    Sun, Fei-Ji; Zhang, Chun-Qing; Chen, Xin; Wei, Yu-Jia; Li, Song; Liu, Shi-Yong; Zang, Zhen-le; He, Jiao-Jiang; Guo, Wei; Yang, Hui

    2016-04-19

    Focal cortical dysplasia type IIb (FCD IIb) and tuberous sclerosis complex (TSC) are well-recognized causes of chronic intractable epilepsy in children. Accumulating evidence suggests that activation of the microglia/macrophage and concomitant inflammatory response in FCD IIb and TSC may contribute to the initiation and recurrence of seizures. The membrane glycoproteins CD47 and CD200, which are highly expressed in neurons and other cells, mediate inhibitory signals through their receptors, signal regulatory protein α (SIRP-α) and CD200R, respectively, in microglia/macrophages. We investigate the levels and expression pattern of CD47/SIRP-α and CD200/CD200R in surgically resected brain tissues from patients with FCD IIb and TSC, and the potential effect of soluble human CD47 Fc and CD200 Fc on the inhibition of several proinflammatory cytokines associated with FCD IIb and TSC in living epileptogenic brain slices in vitro. The level of interleukin-4 (IL-4), a modulator of CD200, was also investigated. Twelve FCD IIb (range 1.8-9.5 years), 13 TSC (range 1.5-10 years) patients, and 6 control cases (range 1.5-11 years) were enrolled. The levels of CD47/SIRP-α and CD200/CD200R were assessed by quantitative real-time polymerase chain reaction and western blot. The expression pattern of CD47/SIRP-α and CD200/CD200R was investigated by immunohistochemical analysis, and the cytokine concentrations were measured by enzyme-linked immune-sorbent assays. Both the messenger RNA and protein levels of CD47, SIRP-α, and CD200, as well as the mRNA level of IL-4, were downregulated in epileptogenic lesions of FCD IIb and TSC compared with the control specimens, whereas CD200R levels were not significantly changed. CD47, SIRP-α, and CD200 were decreasingly expressed in dysmorphic neuron, balloon cells, and giant cells. CD47 Fc and CD200 Fc could inhibit IL-6 release but did not suppress IL-1β or IL-17 production. Our results suggest that microglial activation may be

  14. Transcriptional analysis of human papillomavirus type 16 in histological sections of cervical dysplasia by in situ hybridisation.

    Science.gov (United States)

    Coupe, V M; González-Barreiro, L; Gutiérrez-Berzal, J; Melián-Bóveda, A L; López-Rodríguez, O; Alba-Domínguez, J; Alba-Losada, J

    2012-02-01

    The HPV-16 virus is well described as a causative agent in cervical cancer. To individually analyse the transcription profile of the HPV-16 viral genes in patient biopsies of varying grades of cervical dysplasia by a chromogenic in situ hybridisation technique. 19 formalin fixed, paraffin embedded (FFPE) biopsies of cervical dysplasia were analysed by a chromogenic in situ hybridisation protocol using novel long single stranded digoxigenin labelled DNA probes targeted to the individual HPV-16 gene RNAs. A transcription pattern for all the HPV-16 genes that is always conserved to the upper intermediate and superficial layers of the cervical epithelium and is independent of the level of dysplasia is described. E1 and E6 transcripts were found to express with a uniquely nuclear localisation; all other transcripts had both nuclear and cytoplasmic localisation. E5 oncogene transcripts were abundant in all cases, being equal to or greater than E7. Deep investigation of the E2 RNA transcript showed a potential alternative transcript with a possible novel start codon. This data represents new information on HPV-16 viral transcription events that bring into question some of the current beliefs on the mechanism of HPV-16 infection in the progression to cervical cancer. Results support high expression of the E5 and E7 oncogenes in cervical dysplasias infected by HPV-16 in contrast to the low levels identified for the E6 oncogene and a possible alternative transcript for the E2 gene. The diagnostic utility of the detection of HPV-16 RNA transcripts is becoming more apparent and a renewed look at their in situ localisation in cervical biopsies could be beneficial.

  15. Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance.

    Science.gov (United States)

    Park, Soo-Mi; Hall, Christine M; Gray, Roger; Firth, Helen V

    2007-09-01

    The spondyloepimetaphyseal dysplasias (SEMD) are a group of skeletal dysplasias of variable severity with a heterogeneous genetic aetiology. SEMD with multiple dislocations (Hall type) is a recently identified disorder (OMIM 603546) which is characterized by striking epiphyseal and metaphyseal changes of the long bones and joint laxity with multiple dislocations of the large joints. We report on persistent inspiratory stridor in a child with this type of SEMD in the second reported family with dominant transmission of this disorder. Microlaryngoscopy showed laryngeal stenosis due to failure of abduction of the vocal cords and a tracheostomy was required to provide a satisfactory airway. Since airway compromise has been reported previously in a small series of patients (total of five out of 13 cases so far), the evidence to date supports the association of upper airway obstruction in early childhood with the Hall type of SEMD. We therefore suggest that this is a clinically important diagnostic feature of this disorder. Copyright 2007 Wiley-Liss, Inc.

  16. Focal cortical dysplasia of Taylor's balloon cell type: a clinicopathological entity with characteristic neuroimaging and histopathological features, and favorable postsurgical outcome.

    Science.gov (United States)

    Urbach, Horst; Scheffler, Björn; Heinrichsmeier, Thomas; von Oertzen, Joachim; Kral, Thomas; Wellmer, Joerg; Schramm, Johannes; Wiestler, Otmar D; Blümcke, Ingmar

    2002-01-01

    Focal cortical dysplasia of Taylor's balloon-cell type (FCD-BC) are a frequent cause of pharmacoresistant epilepsy in young patients. In order to characterize FCD-BC, we coupled MRI and histopathology, and analyzed the clinical outcome following epilepsy surgery. From an epilepsy data bank with 547 histological specimens, 17 FCD-BC were re-evaluated of which high resolution MRI was available. Five additional FCD-BC were prospectively identified by MRI. Histopathological and immunohistochemical features were related to MRI. Outcome following lesionectomy was analyzed as determined on routine examinations 3, 6 and 12 months following surgery. All but one lesion were located outside the temporal lobe. A markedly hyperintense funnel-shaped subcortical zone tapering towards the lateral ventricle was the characteristic finding on FLAIR MRI. Histopathologically, the subcortical zone of the FCD-BC displayed hypomyelinated white matter with radially oriented balloon cells and gliosis. Dysplastic neurons were found in the adjacent, disorganized cortex. All patients with complete lesionectomy were seizure free one year following surgery. Focal cortical dysplasias of Taylor's balloon-cell type (FCD-BC) have characteristic MRI and histopathological findings. MRI recognition is important, since outcome following resective surgery is favorable.

  17. Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.

    Science.gov (United States)

    Mégarbané, A; Ghanem, I; Le Merrer, M

    2003-10-15

    A 6-year-old boy with congenital hip dislocation, developmental delay, short stature, macrocephaly, low set ears, short neck, and hyperlaxity of the wrists and fingers is described. Radiographs disclosed mainly the presence of thoracic scoliosis, narrow interpedicular distances, metaphyseal vertical striations, very small irregular epiphyses, right hip dislocation, luxation of both elbows, and severe delay of ossification of the epiphyses and the carpal bones. These features are very close to the newly described entity: spondyloepimetaphyseal dysplasia and multiple dislocations. This patient brings to light the differential diagnosis and confirms the specificity of the radiological findings of this new entity. Copyright 2003 Wiley-Liss, Inc.

  18. Sturge-Weber Syndrome Is Associated with Cortical Dysplasia ILAE Type IIIc and Excessive Hypertrophic Pyramidal Neurons in Brain Resections for Intractable Epilepsy.

    Science.gov (United States)

    Wang, Dan-Dan; Blümcke, Ingmar; Coras, Roland; Zhou, Wen-Jing; Lu, De-Hong; Gui, Qiu-Ping; Hu, Jing-Xia; Zuo, Huan-Cong; Chen, Shi-Yun; Piao, Yue-Shan

    2015-05-01

    Sturge-Weber syndrome (SWS) is a rare syndrome characterized by capillary-venous malformations involving skin and brain. Many patients with SWS also suffer from drug-resistant epilepsy. We retrospectively studied a series of six SWS patients with epilepsy and extensive neurosurgical resections. At time of surgery, the patients' age ranged from 11 to 35 years (with a mean of 20.2 years). All surgical specimens were well preserved, which allowed a systematic microscopical inspection utilizing the 2011 ILAE classification for focal cortical dysplasia (FCD). Neuropathology revealed dysmorphic-like neurons with hypertrophic cell bodies reminiscent to those described for FCD type IIa in all cases. However, gross architectural abnormalities of neocortical layering typical for FCD type IIa were missing, and we propose to classify this pattern as FCD ILAE type IIIc. In addition, our patients with earliest seizure onset also showed polymicrogyria (PMG; n = 4). The ictal onset zones were identified in all patients by subdural electrodes, and these areas always showed histopathological evidence for FCD type IIIc. Four out of five patients had favorable seizure control after surgery with a mean follow-up period of 1.7 years. We concluded from our study that FCD type IIIc and PMG are frequently associated findings in SWS. FCD type IIIc may play a major epileptogenic role in SWS and complete resection of the associated FCD should be considered a prognostic key factor to achieve seizure control. © 2014 International Society of Neuropathology.

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

    Science.gov (United States)

    Sellmer, Anna; Hjortdal, Vibeke Elisabeth; Bjerre, Jesper Vandborg; Schmidt, Michael Rahbek; McNamara, Patrick J; Bech, Bodil Hammer; Henriksen, Tine Brink

    2015-01-01

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

  20. Total hip arthroplasty (S-ROM stem) and subtrochanteric osteotomy for Crowe type IV developmental dysplasia of the hip.

    Science.gov (United States)

    Li, Liangtao; Yu, Mingyang; Yang, Chen; Gu, Guishan

    2016-01-01

    Developmental dysplasia of the hip (DDH) in adults with severe pain and disability is best treated by total hip arthroplasty (THA). The purpose of this study was to retrospectively evaluate the outcomes of subtrochanteric shortening osteotomy combined with THA using S-ROM stem for those severe patients with a special focus on the effect of two shapes in the subtrochanteric osteotomy ends: Oblique and transverse. Twenty one cases with mean age of 43.6 years who met inclusion criteria and were operated between February 2007 and February 2012 were included in the study. Those cases had been divided into two groups (oblique vs. transverse) and all records between the two groups were analyzed. The Harris hip score significantly improved from 30.6 (range 18-59) preoperatively to 91.2 (range 87-98) postoperatively by the latest followup. Complications including one deep venous thrombosis, one intraoperative fracture of femur and two dislocations occurred while they were addressed properly afterward. The oblique group showed significant advantages in operative time, union time and additional fixation in comparison with the transverse group. In the primary THA for the treatment of irreducible DDH, subtrochanteric oblique osteotomy combined with the freely-rotatable S-ROM stem provided favorable short term outcomes by affording both morphological and functional advantages.

  1. MUC2 expression and prevalence of high-grade dysplasia and invasive carcinoma in mixed-type intraductal papillary mucinous neoplasm of the pancreas.

    Science.gov (United States)

    Masuda, Atsuhiro; Arisaka, Yoshifumi; Hara, Shigeo; Matsumoto, Ippei; Takenaka, Mamoru; Sakai, Arata; Shiomi, Hideyuki; Matsuki, Nobuyuki; Sugimoto, Maki; Fujita, Tsuyoshi; Hayakumo, Takanobu; Ku, Yonson; Ogino, Shuji; Azuma, Takeshi; Kutsumi, Hiromu

    2013-01-01

    Morphological types and mucin protein expressions classify intraductal papillary mucinous neoplasms (IPMNs). Main duct (MD)-IPMN mostly consists of intestinal type (I-type), which expresses MUC2. Branch duct (BD)-IPMN mostly consists of gastric type (G-type), which does not express MUC2. However, the definition of mixed-type IPMN has yet to be clarified and it contains various histological types. The aim of this study was to investigate the relationship between MUC2 expression and the presence of high-grade dysplasia (HGD) and invasive carcinoma, especially in mixed-type IPMN. This retrospective study included 101 consecutive patients with surgically resected IPMNs between April 2001 and October 2012. All patients were morphologically classified into four distinct types (I-type, G-type, PB-type: pancreatobilliary, O-type: oncocytic) and immunohistochemical reactivity of various anti-mucin antibodies were investigated. According to the classification of the 2012 international guidelines, the numbers (and histomorphological types: I/G/PB/O) of MD, mixed-type, and BD-IPMNs were 16 (12/4/0/0), 45 (16/28/1/0), and 40 (0/38/1/1). Prevalence of MUC2 expression in MD, mixed-type, and BD-IPMNs were 75% (12/16), 36% (16/45), and 0% (0/40). In mixed-type IPMN, the prevalence of HGD and/or invasive carcinoma in MUC2-positive IPMN was significantly higher than that of MUC2-negative IPMN (HGD + invasive carcinoma: 88% vs. 38%, p = 0.0017; invasive carcinoma: 50% vs. 21%, p = 0.042). Multivariate analysis showed that MUC2 expression is an independent predictive factor of HGD and invasive carcinoma in mixed IPMN (odds ratio 14.6, 95% CI 2.5-87.4, p = 0.003). In mixed-type IPMN, MUC2 expression clearly identified HGD and invasive carcinoma and may provide most appropriate surgical indication. Copyright © 2013 IAP and EPC. Published by Elsevier B.V. All rights reserved.

  2. Arrhythmogenic right ventricular dysplasia

    OpenAIRE

    Bockeria O.L.; Lе T.G.

    2015-01-01

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

  3. 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

  4. The skeletal dysplasias

    National Research Council Canada - National Science Library

    Krakow, Deborah; Rimoin, David L

    2010-01-01

    The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature...

  5. Autosomal recessive hydrotic ectodermal dysplasia.

    Science.gov (United States)

    Fried, K

    1977-04-01

    First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while the female had a branchial cyst on the left side of the neck. The parents of both the cases were completely normal. The patients had distinct clinical similarity to the condition described by Witkop (1965) as 'Autosomal dominant dysplasia of nails and hypodontia' but the nails were less affected and the mode of inheritance was completely different.

  6. Thanatophoric Dysplasia: A Case Report.

    Science.gov (United States)

    Sharma, Manisha; Jyoti; Jain, Rekha; Devendra

    2015-11-01

    Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes. They can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of pre term fresh stillborn baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, narrow thorax and protuberant abdomen which delivered at our hospital. The ultrasound examination showed shortening of long bones with femur shaped like telephone receiver. Dysmorphic facial features and skeletal abnormalities in the baby lead us to make the diagnosis of TD type I. Because of the rarity of this condition we report this case of thanatophoric dysplasia with a short review of literature.

  7. Pulmonary hypertension in bronchopulmonary dysplasia.

    Science.gov (United States)

    Ambalavanan, Namasivayam; Mourani, Peter

    2014-03-01

    Pulmonary hypertension is common in bronchopulmonary dysplasia and is associated with increased mortality and morbidity. This pulmonary hypertension is due to abnormal microvascular development and pulmonary vascular remodeling resulting in reduced cross-sectional area of pulmonary vasculature. The epidemiology, etiology, clinical features, diagnosis, suggested management, and outcomes of pulmonary hypertension in the setting of bronchopulmonary dysplasia are reviewed. In summary, pulmonary hypertension is noted in a fifth of extremely low birth weight infants, primarily those with moderate or severe bronchopulmonary dysplasia, and persists to discharge in many infants. Diagnosis is generally by echocardiography, and some infants require cardiac catheterization to identify associated anatomic cardiac lesions or systemic-pulmonary collaterals, pulmonary venous obstruction or myocardial dysfunction. Serial echocardiography and B-type natriuretic peptide measurement may be useful for following the course of pulmonary hypertension. Currently, there is not much evidence to indicate optimal management approaches, but many clinicians maintain oxygen saturation in the range of 91 to 95%, avoiding hypoxia and hyperoxia, and often provide inhaled nitric oxide, sometimes combined with sildenafil, prostacyclin, or its analogs, and occasionally endothelin-receptor antagonists. Copyright © 2014 Wiley Periodicals, Inc.

  8. Whole saliva in X-linked hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

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

    2007-01-01

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

  9. Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

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

    2007-01-01

    OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the fi...

  10. 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

  11. Fibrous dysplasia and cherubism

    National Research Council Canada - National Science Library

    Bhattacharya, Surajit; Mishra, R K

    2015-01-01

    ... and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation...

  12. Septo-Optic Dysplasia

    Science.gov (United States)

    ... children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems. × Definition Septo-optic dysplasia (SOD) is a rare disorder ...

  13. HIP DYSPLASIA IN TORNJAK

    Directory of Open Access Journals (Sweden)

    Hrvoje Milošević

    2012-07-01

    Full Text Available Canine hip dysplasia (CHD is a hereditary developmental anomaly, most frequent in large dog breeds. Clinical confirmation of the disorder is based on hip X-ray imaging. Twenty Tornjak dogs aged between 9-36 months, and weighted from 35-42 kg were examined for CHD. Scoring was performed according to six clearly defined radiographic parameters by Flueckiger method (5. Dysplastic changes of various severity were observed in 11 dogs, while in 9 dogs changes were absent. The study describes 4 CHD cases of varying degrees of severity. The results indicate the presence of CHD in Bosnian Tornjak. Determining the incidence of dysplasia in this autochthonous breed requires a more detailed study, which will enable determination of the prevalence of dysplasia and analysis of the relationship to other dog breeds. Key words: canine hip dysplasia, Bosnian Tornjak

  14. 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.)

  15. 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.)

  16. Expression and cell distribution of group I and group II metabotropic glutamate receptor subtypes in Taylor-type focal cortical dysplasia

    NARCIS (Netherlands)

    Aronica, Eleonora; Gorter, Jan A.; Jansen, Gerard H.; van Veelen, Cees W. M.; van Rijen, Peter C.; Ramkema, Marja; Troost, Dirk

    2003-01-01

    Purpose: Focal cortical dysplasia (FCD) is known to be a major cause of intractable epilepsy. The cellular mechanism(s) underlying the epileptogenicity of FCD remain largely unknown. Because recent studies indicate that metabotropic glutamate receptor subtypes (mGluRs) play a role in

  17. Comparison of improved range of motion between cam-type femoroacetabular impingement and borderline developmental dysplasia of the hip -evaluation by virtual osteochondroplasty using computer simulation.

    Science.gov (United States)

    Kubota, So; Inaba, Yutaka; Kobayashi, Naomi; Choe, Hyonmin; Tezuka, Taro; Saito, Tomoyuki

    2017-10-16

    While cam resection is essential to achieve a good clinical result with respect to femoroacetabular impingement (FAI), it is unclear whether it should also be performed in cases of borderline developmental dysplasia of the hip (DDH) with a cam deformity. The aim of this study was to evaluate improvements in range of motion (ROM) in cases of cam-type FAI and borderline DDH after virtual osteochondroplasty using a computer impingement simulation. Thirty-eight symptomatic hips in 31 patients (11male and 20 female) diagnosed with cam-type FAI or borderline DDH were analyzed. There were divided into a cam-type FAI group (cam-FAI group: 15 hips), borderline DDH without cam group (DDH W/O cam group: 12 hips), and borderline DDH with cam group (DDH W/ cam group: 11 hips). The bony impingement point on the femoral head-neck junction at 90° flexion and maximum internal rotation of the hip joint was identified using ZedHip® software. Virtual osteochondroplasty of the impingement point was then performed in all cases. The maximum flexion angle and maximum internal rotation angle at 90° flexion were measured before and after virtual osteochondroplasty at two resection ranges (i.e., slight and sufficient). The mean improvement in the internal rotation angle in the DDH W/ cam group after slight resection was significantly greater than that in the DDH W/O cam group (P = 0.046). Furthermore, the mean improvement in the internal rotation angle in the DDH W/ cam and cam-FAI groups after sufficient resection was significantly greater than that in the DDH W/O cam group (DDH W/ cam vs DDH W/O cam: P = 0.002, cam-FAI vs DDH W/O cam: P = 0.043). Virtual osteochondroplasty resulted in a significant improvement in internal rotation angle in DDH W/ cam group but not in DDH W/O cam group. Thus, borderline DDH cases with cam deformity may be better to consider performing osteochondroplasty.

  18. Similar PDK1-AKT-mTOR pathway activation in balloon cells and dysmorphic neurons of type II focal cortical dysplasia with refractory epilepsy.

    Science.gov (United States)

    Lin, Yuan-xiang; Lin, Kun; Kang, De-zhi; Liu, Xin-xiu; Wang, Xing-fu; Zheng, Shu-fa; Yu, Liang-hong; Lin, Zhang-ya

    2015-05-01

    Dysmorphic neurons and balloon cells constitute the neuropathological hallmarks of type II focal cortical dysplasias (FCDs) with refractory epilepsy. The genesis of these cells may be critical to the histological findings in type II FCD. Recent work has shown enhanced activation of the mTOR cascade in both balloon cells and dysmorphic neurons, suggesting a common pathogenesis for these two neuropathological hallmarks. A direct comparative analysis of balloon cells and dysmorphic neurons might identify a molecular link between balloon cells and dysmorphic neurons. Here, we addressed whether PDK1-AKT-mTOR activation differentiates balloon cells from dysmorphic neurons. We used immunohistochemistry with antibodies against phosphorylated (p)-PDK1 (Ser241), p-AKT (Thr308), p-AKT (Ser473), p-mTOR (Ser2448), p-P70S6K (Thr229), and p-p70S6 kinase (Thr389) in balloon cells compared with dysmorphic neurons. Strong or moderate staining for components of the PDK1-AKT-mTOR signaling pathway was observed in both balloon cells and dysmorphic neurons. However, only a few pyramidal neurons displayed weak staining in control group (perilesional neocortex and histologically normal neocortex). Additionally, p-PDK1 (Ser241) and p-AKT (Thr308) staining in balloon cells were stronger than in dysmorphic neurons, whereas p-P70S6K (Thr229) and p-p70S6 kinase (Thr389) staining in balloon cells was weaker than in dysmorphic neurons. In balloon cells, p-AKT (Ser473) and p-mTOR (Ser2448) staining was comparable with the staining in dysmorphic neurons. Our data support the previously suggested pathogenic relationship between balloon cells and dysmorphic neurons concerning activation of the PDK1-AKT-mTOR, which may play important roles in the pathogenesis of type II FCD. Differential expression of some components of the PDK1-AKT-mTOR pathway between balloon cells and dysmorphic neurons may result from cell-specific gene expression. Copyright © 2015 Elsevier B.V. All rights reserved.

  19. Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity.

    Science.gov (United States)

    Aleck, K A; Grix, A; Clericuzio, C; Kaplan, P; Adomian, G E; Lachman, R; Rimoin, D L

    1987-06-01

    The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism in which vertebral segmentation defects and short, thick, bowed long bones are the prominent radiographic features. Clinically, unusual facies, short neck, narrow thorax, cleft palate, and reduced joint mobility are commonly seen. To date, 18 cases of dyssegmental dysplasia have been reported. Reports of three pairs of affected sibs suggest autosomal recessive inheritance. We have studied eight additional cases of dyssegmental dysplasia, including one pair of affected sibs. Clinical, radiographic, and histologic examination of these new cases and review of the literature demonstrates the presence of at least two distinct forms of dyssegmental dysplasia. The milder form, "dyssegmental dysplasia, type Rolland-Desbuquois," is characterized clinically by frequent survival beyond the newborn period and by distinct radiographic changes resembling Kniest dysplasia. The severe form, "dyssegmental dysplasia, type Silverman-Handmarker," is characterized by stillbirth or death within the first few days of life and by distinct and more severe radiographic changes. In addition, we have demonstrated chondro-osseous morphologic differences between the two disorders by light and electron microscopy. We conclude that there are at least two forms of dyssegmental dysplasia, each autosomal recessive, which can be delineated on clinical, radiographic and morphologic grounds.

  20. 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.

  1. Short rib polydactyly syndrome: lethal skeletal dysplasia

    OpenAIRE

    Huertas, Erasmo; 1 Instituto Nacional Materno Perinatal. Lima, Perú. 2 Facultad de Medicina, Universidad Nacional Mayor de San Marcos. Lima, Perú.; Íngar, Jaime; 1 Instituto Nacional Materno Perinatal. Lima, Perú. 2 Facultad de Medicina, Universidad Particular San Martín de Porres. Lima, Perú.; Gutiérrez, Guiselle; 1 Instituto Nacional Materno Perinatal. Lima, Perú. 2 Facultad de Medicina, Universidad Nacional Mayor de San Marcos. Lima, Perú.; Quiñones, Eva María; Facultad de Medicina, Universidad Particular San Martín de Porres. Lima, Perú.

    2011-01-01

    Short rib-polydactyly syndrome is a descriptive category for a group of lethal skeletal dysplasias characterized by hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities. The 4 established variants are SRPS I (Saldino-Noonan type), SRPS II (Majewski type; 263520), SRPS III (Verma-Naumoff type; 263510), and SRPS IV (Beemer-Langer type; 269860). All variants are thought to be inherited in autosomal recessive pattern. Because of the frequent phenotype overlap there...

  2. Genetics Home Reference: cleidocranial dysplasia

    Science.gov (United States)

    ... Oct 24. Citation on PubMed OMIM: CLEIDOCRANIAL DYSPLASIA Cohen MM Jr. Biology of RUNX2 and Cleidocranial Dysplasia. J Craniofac Surg. 2013 Jan;24(1):130-3. doi: 10.1097/SCS.0b013e3182636b7e. Review. Citation on PubMed D'Alessandro G, Tagariello T, Piana G. Cleidocranial dysplasia: etiology and ...

  3. Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the "NF1 facies".

    Science.gov (United States)

    Cung, Winnie; Freedman, Laura A; Khan, Nicholas E; Romberg, Elaine; Gardner, Pamela J; Bassim, Carol W; Baldwin, Andrea M; Widemann, Brigitte C; Stewart, Douglas R

    2015-11-01

    Neurofibromatosis type 1 (NF1) is a common, autosomal dominant tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1. Cephalometry is an inexpensive, readily available and non-invasive technique that is under-utilized in studying the NF1 craniofacial phenotype. An analysis of NF1 cephalometry was first published by Heervä et al. in 2011. We expand here on that first investigation with a larger cohort of adult and pediatric patients affected with NF1 and sought objective insight into the NF1 facies, said to feature hypertelorism and a broad nasal base, from cephalometric analysis. We obtained cephalograms from 101 patients with NF1 (78 adults and 23 children) from two NF1 protocols at the National Institutes of Health. Each subject had an age-, gender- and ethnicity-matched control. We used Dolphin software to make the cephalometric measurements. We assessed the normality of differences between paired samples using the Shapiro-Wilk test and evaluated the significance of mean differences using paired t-tests and adjusted for multiple testing. We explored the relationship between the cephalometric measurements and height, head circumference and interpupillary distance. In this dataset of American whites with NF1, we confirmed in a modestly larger sample many of the findings found by Heerva et al. in an NF1 Finnish cohort. We found a shorter maxilla, mandible, cranial base, (especially anteriorly, p = 0.0001) and diminished facial height in adults, but not children, with NF1. Only one adult exhibited hypertelorism. The cephalometric differences in adults arise in part from cranial base shortening and thus result in a shorter face, mid-face hypoplasia, reduced facial projection, smaller jaw, and increased braincase globularity. In addition, we suggest that NF1 sphenoid bone shortening, a common event, is consistent with an intrinsic NF1 bone cell defect, which renders the bone more vulnerable to a random "second hit" in

  4. Cephalometry in adults and children with neurofibromatosis type 1: implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”

    Science.gov (United States)

    Cung, Winnie; Friedman, Laura; Khan, Nicholas E.; Romberg, Elaine E.; Gardner, Pamela J.; Bassim, Carol W.; Baldwin, Andrea M.; Widemann, Brigitte C.; Stewart, Douglas R.

    2015-01-01

    Background Neurofibromatosis type 1 (NF1) is a common, autosomal dominant tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1. Cephalometry is an inexpensive, readily available and non-invasive technique that is under-utilized in studying the NF1 craniofacial phenotype. An analysis of NF1 cephalometry was first published by Heervä et al. in 2011. We expand here on that first investigation with a larger cohort of adult and pediatric patients affected with NF1 and sought objective insight into the NF1 facies, said to feature hypertelorism and a broad nasal base, from cephalometric analysis. Methods We obtained cephalograms from 101 patients with NF1 (78 adults and 23 children) from two NF1 protocols at the National Institutes of Health. Each subject had an age-, gender- and ethnicity-matched control. We used Dolphin software to make the cephalometric measurements. We assessed the normality of differences between paired samples using the Shapiro-Wilk test and evaluated the significance of mean differences using paired t-tests and adjusted for multiple testing. We explored the relationship between the cephalometric measurements and height, head circumference and interpupillary distance. Results In this dataset of American whites with NF1, we confirmed in a modestly larger sample many of the findings found by Heerva et al. in an NF1 Finnish cohort. We found a shorter maxilla, mandible, cranial base, (especially anteriorly, p = 0.0001) and diminished facial height in adults, but not children, with NF1. Only one adult exhibited hypertelorism. Conclusions The cephalometric differences in adults arise in part from cranial base shortening and thus result in a shorter face, mid-face hypoplasia, reduced facial projection, smaller jaw, and increased braincase globularity. In addition, we suggest that NF1 sphenoid bone shortening, a common event, is consistent with an intrinsic NF1 bone cell defect, which renders the bone more

  5. Genetics Home Reference: CHST3-related skeletal dysplasia

    Science.gov (United States)

    ... Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. ... K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med Genet A. ...

  6. Cervical dysplasia - slideshow

    Science.gov (United States)

    ... GO GO About MedlinePlus Site Map FAQs Customer Support Health Topics Drugs & Supplements Videos & Tools Español You Are Here: Home → Medical Encyclopedia → Cervical dysplasia - series—Normal anatomy URL of this page: //medlineplus.gov/ency/presentations/ ...

  7. Congenital giant plexiform neurofibroma with occipital calvarial dysplasia in association with meningoencephalocele in neurofibromatosis Type 1 and segmental neurofibromatosis: report of 2 cases.

    Science.gov (United States)

    Dadlani, Ravi; Sadanand, Venkatraman; Ghosal, Nandita; Hegde, Alangar S

    2013-11-01

    Giant plexiform neurofibroma (GPNF) of the scalp is an extremely rare lesion reported in association with neurofibromatosis. Occipital location of GPNF is even more infrequent, especially in association with occipital dysplasia (OD). The authors report 2 pediatric cases of GPNF associated with OD. The first case had an associated meningoencephalocele, and the second had large vascular channels within the lesion and the dominant ipsilateral transverse sinus lying in the center of the calvarial defect. The authors present these 2 unusual cases with a review of literature and discuss the radiological findings, theories of etiopathogenesis of the OD, and management dilemmas.

  8. 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.

  9. Bronchopulmonary dysplasia: a review

    DEFF Research Database (Denmark)

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

    2013-01-01

    Introduction The prevalence of bronchopulmonary dysplasia (BPD), one of the most frequently occurring complications following preterm birth, is increasing due to increased survival of preterm infants. Methods Systematic literature review. Conclusion The etiology is multifactorial, with prematurity...... being a prerequisite for the development of BPD. Over time, there have been many different and new treatment modalities, some of them have reduced the severity of the disease, but none of them have been able to impact upon the increasing incidence of BPD....

  10. Canine Hip Dysplasia: Breed Effects

    OpenAIRE

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

    1980-01-01

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

  11. Genetics Home Reference: Kniest dysplasia

    Science.gov (United States)

    ... Resources (1 link) National Institute of Arthritis and Musculoskeletal and Skin Diseases: Heritable Disorders of Connective ... Skeletal Dysplasia Registry, UCLA Little People of America Little ...

  12. Genetics Home Reference: Czech dysplasia

    Science.gov (United States)

    ... of Arthritis and Musculoskeletal and Skin Diseases: Heritable Disorders of Connective Tissue National Institute of ... International Skeletal Dysplasia Registry, UCLA Resource list from the University ...

  13. Familial ectodermal dysplasia: a peers’ agony

    Science.gov (United States)

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

    2013-01-01

    Ectodermal dysplasias include a various group of inherited disorders which share primary defect in the development of two or more tissues of embryonic ectodermal origin. Though there are many subtypes, ectodermal dysplasias are mainly hidrotic ectodermal dysplasia and hypohidrotic ectodermal dysplasia, among which the most common variety is X linked hypohidrotic ectodermal dysplasia. We report a rare case of X linked hypohidrotic ectodermal dysplasia occurring in a family with various skin, hair and oral abnormalities. PMID:23880572

  14. Familial ectodermal dysplasia: a peers' agony.

    Science.gov (United States)

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

    2013-07-23

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

  15. Cloverleaf skull with generalised bone dysplasia

    Energy Technology Data Exchange (ETDEWEB)

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

    1985-09-01

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

  16. 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.

  17. Ictal Generalized EEG Attenuation (IGEA and hypopnea in a child with occipital type 1 cortical dysplasia - Is it a biomarker for SUDEP?

    Directory of Open Access Journals (Sweden)

    Ganne Chaitanya

    2015-01-01

    Full Text Available An interesting association of ictal hypopnea and ictal generalized EEG attenuation (IGEA as possible marker of sudden unexpected death in epilepsy (SUDEP is reported. We describe a 5-years-old girl with left focal seizures with secondary generalization due to right occipital cortical dysplasia presenting with ictal hypopnea and IGEA. She had repeated episodes of the ictal apnoea in the past requiring ventilator support and intensive care unit (ICU admission during episodes of status epilepticus. The IGEA lasted for 0.26-4.68 seconds coinciding with the ictal hypopnea during which both clinical seizure and electrical epileptic activity stopped. Review of literature showed correlation between post-ictal apnoea and post ictal generalized EEG suppression and increased risk for SUDEP. The report adds to the growing body of literature on peri-ictal apnea, about its association with IGEA might be considered as a marker for SUDEP. She is seizure free for 4 months following surgery.

  18. N-Terminal Pro-B Type Natriuretic Peptide as a Marker of Bronchopulmonary Dysplasia or Death in Very Preterm Neonates

    DEFF Research Database (Denmark)

    Sellmer, Anna; Hjortdal, Vibeke Elisabeth; Bjerre, Jesper Vandborg

    2015-01-01

    increase of natural log NT-proBNP day three when adjusted for gestational age at birth (OR = 1.7, 95% CI 1.3; 2.3). The association was found both in neonates with and without a PDA. Adjusting for GA, PDA diameter, LA:Ao-ratio, or early onset sepsis did not change the estimate. CONCLUSION: We found NT...... three and bronchopulmonary dysplasia (BPD) or death and further to assess the impact of patent ductus arteriosus (PDA) on this association in neonates born before 32 gestational weeks. METHODS: A cohort study of 183 neonates born before 32 gestational weeks consecutively admitted to the Neonatal......-proBNP to be associated with BPD or death in very preterm neonates. This association was not only explained by the PDA. We speculate that NT-proBNP may help the identification of neonates at risk of BPD as early as postnatal day three....

  19. Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.

    Science.gov (United States)

    Currarino, G; Birch, J G; Herring, J A

    2000-01-01

    This paper reports three children with short stature: developmental coxa vara unilateral in the first case and bilateral in the other two; somewhat squared and "ovoid" vertebral bodies in the first patient, and normal to slightly tall vertebral bodies in the third; metaphyseal changes in some long tubular bones including bone fragments similar to the corner fractures seen in child abuse in all three patients. The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral "coxa vara"; their brother, also of short stature, had bilateral coxa valga with otherwise normal femoral heads and necks, and mild metaphyseal changes associated with two minute "corner fractures" in the proximal metaphysis of the left tibia. A review of reported cases of developmental coxa vara associated with spondylometaphyseal dysplasia revealed that simulated corner fractures were present in most instances.

  20. The effect of trochlear dysplasia on patellofemoral biomechanics: a cadaveric study with simulated trochlear deformities.

    Science.gov (United States)

    Van Haver, Annemieke; De Roo, Karel; De Beule, Matthieu; Labey, Luc; De Baets, Patrick; Dejour, David; Claessens, Tom; Verdonk, Peter

    2015-06-01

    Trochlear dysplasia appears in different geometrical variations. The Dejour classification is widely used to grade the severity of trochlear dysplasia and to decide on treatment. To investigate the effect of trochlear dysplasia on patellofemoral biomechanics and to determine if different types of trochlear dysplasia have different effects on patellofemoral biomechanics. Controlled laboratory study. Trochlear dysplasia was simulated in 4 cadaveric knees by replacing the native cadaveric trochlea with different types of custom-made trochlear implants, manufactured with 3-dimensional printing. For each knee, 5 trochlear implants were designed: 1 implant simulated the native trochlea (control condition), and 4 implants simulated 4 types of trochlear dysplasia. The knees were subjected to 3 biomechanical tests: a squat simulation, an open chain extension simulation, and a patellar stability test. The patellofemoral kinematics, contact area, contact pressure, and stability were compared between the control condition (replica implants) and the trochlear dysplastic condition and among the subgroups of trochlear dysplasia. The patellofemoral joint in the trochlear dysplastic group showed increased internal rotation, lateral tilt, and lateral translation; increased contact pressures; decreased contact areas; and decreased stability when compared with the control group. Within the trochlear dysplastic group, the implants graded as Dejour type D showed the largest deviations for the kinematical parameters, and the implants graded as Dejour types B and D showed the largest deviations for the patellofemoral contact areas and pressures. Patellofemoral kinematics, contact area, contact pressure, and stability are significantly affected by trochlear dysplasia. Of all types of trochlear dysplasia, the models characterized with a pronounced trochlear bump showed the largest deviations in patellofemoral biomechanics. Investigating the relationship between the shape of the trochlea and

  1. 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.)

  2. Bizarre cell dysplasia of the cervix.

    Science.gov (United States)

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

    2017-02-01

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

  3. Epidemiology of bronchopulmonary dysplasia.

    Science.gov (United States)

    Jensen, Erik A; Schmidt, Barbara

    2014-03-01

    Bronchopulmonary dysplasia (BPD) is among the most common and serious sequelae of preterm birth. BPD affects at least one-quarter of infants born with birth weights less than 1500 g. The incidence of BPD increases with decreasing gestational age and birth weight. Additional important risk factors include intrauterine growth restriction, sepsis, and prolonged exposure to mechanical ventilation and supplemental oxygen. The diagnosis of BPD predicts multiple adverse outcomes including chronic respiratory impairment and neurodevelopmental delay. This review summarizes the diagnostic criteria, incidence, risk factors, and long-term outcomes of BPD. Copyright © 2014 Wiley Periodicals, Inc.

  4. Dysplasia in Ulcerative Colitis

    OpenAIRE

    RH Riddell

    1990-01-01

    Patients at highest risk for developing cancer in ulcerative colitis are those with ‘extensive’ or total involvement of the large bowel who have had the disease for at least seven years. Dysplasia is used as a marker bur has many problems including those of sampling, reproducibility and management. The risk in patients with colitis is unclear particularly in those with left-sided or distal ulcerative colitis. In countries at high risk from colorectal cancer about 4 to 6% of the population can...

  5. Impact of sedation method on the diagnosis of hip and elbow dysplasia in Swedish dogs.

    Science.gov (United States)

    Malm, Sofia; Strandberg, Erling; Danell, Birgitta; Audell, Lars; Swenson, Lennart; Hedhammar, Ake

    2007-03-17

    Our objective was to investigate the effect of sedation method on the screening result for hip and elbow dysplasia. The study was based on a questionnaire survey of routines for hip and elbow screening at Swedish veterinary clinics and results of hip and elbow status, for eight breeds (Bernese Mountain Dog, Boxer, German Shepherd Dog, Golden Retriever, Labrador Retriever, Newfoundland, Rottweiler, and Saint Bernard) recorded by the Swedish Kennel Club. In total 5877 and 5406 dogs examined for hip and elbow dysplasia, respectively, from January 2002 through March 2003 were included. We used logistic regression to examine whether the type of chemical restraint used for sedation affected the screening result for hip and elbow dysplasia. In addition to sedation method, the effects of veterinary clinic, sex, breed, and age at screening were studied. The type of chemical restraint used for sedation affected the screening result for hip but not for elbow dysplasia. Acepromazine gave less than half the odds of hip dysplasia compared with medetomidine and butorphanol (the most common method), medetomidine alone or xylazine. Females had about 25% higher odds for developing hip dysplasia whereas males had almost 40% higher odds for developing elbow dysplasia. Saint Bernard, Newfoundland and German Shepherd Dog had the highest odds of developing hip dysplasia, whereas Rottweiler and Labrador Retriever had the lowest odds. Boxer had the lowest risk for elbow dysplasia, followed by Labrador Retriever. Saint Bernard and Rottweiler had the highest odds of elbow dysplasia. Increasing age increased the odds of both hip and elbow dysplasia, by about 2.5% per month. Following the results in this study, recording of the type of chemical restraint used for sedation during hip screening has now become mandatory in Sweden. This makes it possible to account for the effect of sedation method in a model for prediction of breeding values for hip dysplasia.

  6. Fetal Bowel Dilatation due to Intestinal Neuronal Dysplasia: A Rarity.

    Science.gov (United States)

    Akdag, Arzu; Anadut, Karar Orkun; Yalcin, Omer; Kaya, Mete

    2016-01-01

    Intestinal neuronal dysplasia (IND) type B is characterized by malformation of parasympathetic plexus and manifests at more than 6 month of age with progressive severe constipation. We report a case of IND type B presented with bowel dilatation on antenatal scan and neonatal intestinal obstruction which is unusual with this type of IND.

  7. Displasia broncopulmonar Bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Luciana F. Velloso Monte

    2005-04-01

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

  8. Fibrous dysplasia and cherubism

    Directory of Open Access Journals (Sweden)

    Surajit Bhattacharya

    2015-01-01

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

  9. Fibrous dysplasia and cherubism

    Science.gov (United States)

    Bhattacharya, Surajit; Mishra, RK

    2015-01-01

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

  10. The scapula as a window to the diagnosis of skeletal dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Mortier, G.R. [Department of Medical Genetics, University Hospital of Gent, De Pintelaan 185, B-9000 Gent (Belgium); Rimoin, D.L. [Department of Medical Genetics and Pediatrics, Cedars-Sinai Medical Center, University of California Los Angeles, Los Angeles, California (United States); Lachman, R.S. [Department of Medical Genetics and Pediatrics, Cedars-Sinai Medical Center, University of California Los Angeles, Los Angeles, California (United States)]|[Department of Radiology, Harbor/UCLA Medical Center, Torrance, California (United States)]|[International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, 444 South San Vicente Blvd., Suite 1001, Los Angeles, CA 90048 (United States)

    1997-05-01

    Evaluation of the scapula can be useful in the diagnosis of skeletal dysplasias and helpful for the classification and delineation of new entities. A review of 2100 computerized cases of skeletal dysplasias in the International Skeletal Dysplasia Registry was performed. We found that the Luton type of platyspondylic lethal skeletal dysplasia differed radiographically from the San Diego type and Torrance type by the presence of two spikes at the inferior angle of the scapula. Hypoplasia of the body of the scapula, which is characteristic for campomelic dysplasia but not for kyphomelic dysplasia, is also present in Antley-Bixler syndrome. Radiographic and clinical similarities between campomelic dysplasia and Antley-Bixler syndrome suggest that they might be related disorders and that the latter condition should be included in the bent-bone dysplasia group. Similarity between the metaphyseal regions of the scapula and the metaphyses of the long tubular bones in the different types of short-rib polydactyly syndrome illustrates the importance of evaluation of the scapula in this group as well as in other well-defined or unknown osteochondrodysplasias. (orig.). With 8 figs.

  11. 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.

  12. Arrhythmogenic right ventricular dysplasia.

    Science.gov (United States)

    Kinsara, A J; Zaman, L; Gorgels, A

    2001-01-01

    Right ventricular dysplasia (RVD) is a disease entity of unknown cause that is characterised by partial or total replacement of RV-muscle by adipose or fibrous tissue. It is a well-recognized cause of arrhythmia and premature sudden death, but usually underdiagnosed. Several noninvasive and invasive diagnostic modalities have been used, however, all may not be positive in a given case. Drug therapy with class 1c, beta-blocker, and amiodarone in variable combination produce varying success rates in preventing recurrent ventricular tachycardia. Failure of the above measures calls for insertion of implantable cardioverter defibrillator. The attention of emergency physicians is drown to this disease as they are the first medical personnel to be presented with this disease as an emergency. Hence their recognition of RVD will ensure early and proper management.

  13. Advances in bronchopulmonary dysplasia.

    Science.gov (United States)

    Strueby, Lannae; Thébaud, Bernard

    2014-06-01

    Bronchopulmonary dysplasia (BPD) is a chronic respiratory condition primarily affecting infants born less than 28 weeks gestational age. BPD and the diagnostic criteria that define it have evolved since the initial description of the disease more than four decades ago. BPD is one of the most common and serious complications of extreme premature birth. Despite advances in neonatal care and continued research into therapeutic strategies the incidence of BPD remains unchanged. Pharmacologic approaches to the management of BPD include methylxanthines, corticosteroids, and vitamin A supplementation. Supportive therapies including the increased use of non-invasive ventilation and careful oxygen delivery strive to reduce injury inflicted on the developing lung. Stem cell-based therapies are a new investigational strategy showing promise for the prevention or treatment of BPD. The goal of this review is to highlight the evolution of BPD and review current and potential future therapeutic strategies for BPD.

  14. Intraoperative Magnetic-Resonance Tomography and Neuronavigation During Resection of Focal Cortical Dysplasia Type II in Adult Epilepsy Surgery Offers Better Seizure Outcomes.

    Science.gov (United States)

    Roessler, Karl; Kasper, Burkhard S; Heynold, Elisabeth; Coras, Roland; Sommer, Björn; Rampp, Stefan; Hamer, Hajo M; Blümcke, Ingmar; Buchfelder, Michael

    2018-01-01

    Focal cortical dysplasia (FCD) is one important cause of drug-resistant epilepsy potentially curable by epilepsy surgery. We investigated the options of using neuronavigation and intraoperative magnetic-resonance tomographical imaging (MRI) to avoid residual epileptogenic tissue during resection of patients with FCD II to improve seizure outcome. Altogether, 24 patients with FCD II diagnosed by MRI (16 female, 8 male; mean age 34 ± 10 years) suffered from drug-resistant electroclinical and focal epilepsy for a mean of 20.7 ± 5 years. Surgery was performed with preoperative stereoelectroencephalography (in 15 patients), neuronavigation, and intraoperative 1.5T-iopMRI in all 24 investigated patients. In 75% of patients (18/24), a complete resection was performed. In 89% (16/18) of completely resected patients, we documented an Engel I seizure outcome after a mean follow-up of 42 months. All incompletely resected patients had a worse outcome (Engel II-III, P < 0.0002). Patients with FCD IIB had also significant better seizure outcome compared with patients diagnosed as having FCD IIA (82% vs. 28%, P < 0.02). In 46% (11/24) of patients, intraoperative second-look surgeries due to residual lesions detected during the intraoperative MRI were performed. In these 11 patients, there were significant more completely seizure free patients (73% vs. 38% Engel IA), compared with 13 patients who finished surgery after the first intraoperative MRI (P < 0.05). Excellent seizure outcome after surgery of patients with FCD II positively correlated with the amount of resection, histologic subtype, and the use of intraoperative MRI, especially when intraoperative second-look surgeries were performed. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Significance of survivin immunoreactivity and morphometric analysis of HPV-induced cervical dysplasia

    Directory of Open Access Journals (Sweden)

    Vukomanović-Đurđević Biserka

    2014-01-01

    Full Text Available Genomic integration of high-risk human papilloma virus in the nucleus of cervical epithelial mucosal cells leads to epithelial dysplasia. The aim of this study was to determine the relevance of correlation between epithelial survivin expression and the degree of human papilloma virus (HPV-induced cervical epithelial dysplasia, and to establish the significance of morphometric analysis of the nuclear area in the assessment of the degree of cervical dysplasia. This retrospective study included 99 women with primary, previously untreated lesions, and colposcopic findings indicating dysplasia, in whom a cytological test by Papanicolaou method was interpreted according to the Bethesda criteria as lowgrade squamous intraepithelial lesion (LSIL, high-grade squamous intraepithelial lesion (HSIL, and atypical squamous cells of undetermined significance (ASCUS. We performed human papilloma virus (HPV typing by PCR for evidence of viruse types 16, 18, 31, 33. After biopsy of the cervical mucosa, we performed hematoxylin-eosin (H-E and Periodic Acid Schiff (PAS staining, and immunohistochemical and morphometric analysis of tissue samples. The control group consisted of 12 women without dysplasia and without a verified infection of cervical high-risk HPV. A high statistical correlation between the degree of dysplasia and expression of survivin was found in patients with different types of cervical dysplasia (p = 0.003. We observed a high statistical difference between the area of nuclei at different degrees of cervical dysplasias (p = 0.000. The high-grade cervical dysplasia had a more than 2-fold higher level of ranking in comparison to low-grade dysplasia, and a more than 10-fold higher ranking than the control group without cervical dysplasia.

  16. Genetics Home Reference: frontonasal dysplasia

    Science.gov (United States)

    ... 2 Genetic Testing Registry: Frontonasal dysplasia 3 Other Diagnosis and Management Resources (4 links) KidsHealth from Nemours: Cleft Lip and Palate MedlinePlus Encyclopedia: Head and Face Reconstruction Mount Sinai ...

  17. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

    Warnakulasuriya, S; Reibel, J; Bouquot, J

    2008-01-01

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

  18. Cleidocranial dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Hemalatha R

    2008-03-01

    Full Text Available Cleidocranial dysplasias is an autosomal dominant disorder that presents with skeletal dysplasia. The dental manifestations are mainly delayed exfoliation of primary teeth and delayed eruption of permanent teeth, with multiple impacted supernumeraries. This report addresses the complex nature of the treatment modalities. In our patient, surgical exposure of unerupted teeth was done with orthodontic traction. Post-surgical follow-up was uneventful.

  19. 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.

  20. [Magnesium and bronchopulmonary dysplasia].

    Science.gov (United States)

    Fridman, Elena; Linder, Nehama

    2013-03-01

    Bronchopulmonary dysplasia (BPD) is a chronic lung disease that occurs in premature infants who have needed mechanical ventilation and oxygen therapy. BPD is defined as the presence of persistent respiratory symptoms, the need for supplemental oxygen to treat hypoxemia, and an abnormal chest radiograph at 36 weeks gestational age. Proinflammatory cytokines and altered angiogenic gene signaling impair prenatal and postnatal lung growth, resulting in BPD. Postnatal hyperoxia exposure further increases the production of cytotoxic free radicals, which cause lung injury and increase the levels of proinflammatory cytokines. Magnesium is the fourth most abundant metal in the body. It is commonly used for the treatment of preeclamsia, as well as for premature labor alleviation. Magnesium's role in BPD development is not clear. A significant association between high magnesium levels at birth and respiratory distress syndrome (RDS), pulmonary interstitial emphysema in the extremely low birth weight, respiratory failure, and later development BPD was found. Conversely, low magnesium intake is associated with lower lung functions, and hypomagnesemia was found in 16% of patients with acute pulmonary diseases. Magnesium is used for the treatment of asthmatic attacks. Magnesium deficiency in pregnant women is frequently seen due to low intake. Hypomagnesemia was also found among preterm neonates and respiratory distress syndrome (RDS). Experimental hypomagnesemia evokes an inflammatory response, and oxidative damage of tissues. These were accompanied by changes in gene expression mostly involved in regulation of cell cycle, apoptosis and remodeling, processes associated with BPD. It is rational to believe that hypomagnesemia can contribute to BPD pathogenesis.

  1. Ureaplasma and bronchopulmonary dysplasia.

    Science.gov (United States)

    Gancia, Paolo; Delogu, Antonio; Pomero, Giulia

    2014-03-01

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

  2. Progressive pseudorheumatoid dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Mampaey, S.; De Schepper, A. [Dept. of Radiology, University Hospital Antwerp, Edegem (Belgium); Vanhoenacker, F. [Dept. of Radiology, University Hospital Antwerp, Edegem (Belgium); Dept. of Radiology, St. Maarten Hospital, Duffel (Belgium); Boven, K. [Dept. of Pediatrics, University Hospital Antwerp, Edegem (Belgium); Hul, W. van [Dept. of Medical Genetics, University of Antwerp (Belgium)

    2000-11-01

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

  3. 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.

  4. 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.

  5. 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.

  6. Early (bronchopulmonary dysplasia in preterm infants.

    Science.gov (United States)

    Doyle, Lex W; Cheong, Jeanie L; Ehrenkranz, Richard A; Halliday, Henry L

    2017-10-24

    risks of bronchopulmonary dysplasia both at 28 days of life and at 36 weeks' postmenstrual age, death or bronchopulmonary dysplasia at 28 days of life and at 36 weeks' postmenstrual age, patent ductus arteriosus, and retinopathy of prematurity (ROP), including severe ROP. Researchers found no significant differences in rates of neonatal or subsequent mortality; they noted that gastrointestinal bleeding and intestinal perforation were important adverse effects, and that risks of hyperglycaemia, hypertension, hypertrophic cardiomyopathy, and growth failure were increased. The 13 trials that reported late outcomes described several adverse neurological effects at follow-up examination, including cerebral palsy. However, study authors indicated that major neurosensory disability was not significantly increased, either overall in the eight studies for which this outcome could be determined, or in the two individual studies in which rates of cerebral palsy or abnormal neurological examination were significantly increased. Moreover, data show that rates of the combined outcomes of death or cerebral palsy, or of death or major neurosensory disability, were not significantly increased. Two-thirds of studies used dexamethasone (n = 21). Subgroup analyses by type of corticosteroid revealed that most of the beneficial and harmful effects of treatment were attributable to dexamethasone. However, as with dexamethasone, hydrocortisone was associated with reduced rates of patent ductus arteriosus, mortality, and the combined outcome of mortality or chronic lung disease, but with increased occurrence of intestinal perforation. Results showed that hydrocortisone was not associated with obvious longer-term problems.Use of the GRADE approach revealed that the quality of evidence was high for the major outcomes considered, but review authors downgraded quality one level for several outcomes (mortality at latest age, bronchopulmonary dysplasia at 36 weeks, and death or bronchopulmonary

  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. Prenatal diagnosis of asphyxiating thoracic dysplasia.

    Science.gov (United States)

    Lipson, M; Waskey, J; Rice, J; Adomian, G; Lachman, R; Filly, R; Rimoin, D

    1984-06-01

    A fetus at risk for asphyxiating thoracic dysplasia was studied with ultrasound examination at 16, 18, and 23 weeks of pregnancy. Definite shortness of fetal femora was observed. Radiographic and histologic examinations after pregnancy termination confirmed the diagnosis. Asphyxiating thoracic dysplasia appears to be one of an increasing number of skeletal dysplasias that can be diagnosed prenatally with ultrasound.

  9. Genetic heterogeneity in spondylo-epimetaphyseal dysplasias: a ...

    African Journals Online (AJOL)

    Introduction: Spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of skeletal disorders characterized by defective growth and modeling of the spine and long bones. Different types are described in the literature. Accurate classification of SEMDs is essential for proper genetic counseling. Patients and ...

  10. 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.

  11. Florid osseous dysplasia in Orientals.

    Science.gov (United States)

    Loh, F C; Yeo, J F

    1989-12-01

    Florid osseous dysplasia has been described as a condition that characteristically affects the jaws of middle-aged black women. It usually manifests as multiple radiopaque cementum-like masses distributed throughout the jaws. This condition has also been classified by various authors as sclerosing osteomyelitis, sclerosing osteitis, sclerotic cemental masses, gigantiform cementoma, and various other terms. In this series, we want to document eight cases of florid osseous dysplasia in middle-aged, female ethnic Chinese and one case in an Indian subject on the basis of radiographic and histopathologic findings. On the basis of this series, incidence is estimated to be 0.01 case per year 100,000 population. Florid osseous dysplasia constitutes 11% of cemental lesions in our files.

  12. Managing Children with Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    A. A. Baranov

    2016-01-01

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

  13. Cementless total hip arthroplasty for patients with Crowe type III or IV developmental dysplasia of the hip: two-stage total hip arthroplasty following skeletal traction after soft tissue release for irreducible hips.

    Science.gov (United States)

    Yoon, Pil Whan; Kim, Jung Il; Kim, Dong Ok; Yu, Cheol Hwan; Yoo, Jeong Joon; Kim, Hee Joong; Yoon, Kang Sup

    2013-09-01

    Total hip arthroplasty (THA) for severe developmental dysplasia of the hip (DDH) is a technically demanding procedure for arthroplasty surgeons, and it is often difficult to reduce the hip joint without soft tissue release due to severe flexion contracture. We performed two-stage THAs in irreducible hips with expected lengthening of the affected limb after THA of over 2.5 cm or with flexion contractures of greater than 30 degrees in order to place the acetabular cup in the true acetabulum and to prevent neurologic deficits associated with acute elongation of the limb. The purpose of this study is to evaluate the outcomes of cementless THA in patients with severe DDH with a special focus on the results of two-stage THA. Retrospective clinical and radiological evaluations were done on 17 patients with Crowe type III or IV developmental DDH treated by THA. There were 14 women and 3 men with a mean age of 52.3 years. Follow-ups averaged 52 months. Six cases were treated with two-stage THA followed by surgical hip liberalization and skeletal traction for 2 weeks. The mean Harris hip score improved from 40.9 to 89.1, and mean leg length discrepancy (LLD) in 13 unilateral cases was reduced from 2.95 to 0.8 cm. In the patients who underwent two-stage surgery, no nerve palsy was observed, and the single one-stage patient with incomplete peroneal nerve palsy recovered fully 4 weeks postoperatively. The short-term clinical and radiographic outcomes of primary cementless THA for patients with Crowe type III or IV DDH were encouraging. Two-stage THA followed by skeletal traction after soft tissue release could provide alternative solutions to the minimization of limb shortenings or LLD without neurologic deficits in highly selected patients.

  14. Dark adaptation during transient hyperglycemia in type 2 diabetes

    DEFF Research Database (Denmark)

    Holfort, Stig Kraglund; Jackson, Gregory R; Larsen, Michael

    2010-01-01

    It was the purpose of the present study to examine dark adaptation in subjects with type 2 diabetes during transient hyperglycemia. Twenty-four subjects with type 2 diabetes and minimal diabetic retinopathy were randomized to undergo an oral glucose tolerance test (OGTT) or to remain fasting. Dark...... glycemia increased in the 12 OGTT subjects, from 8.6±2.1 at baseline to 21.1±3.6 mM after 80 min. In the OGTT group, four out of seven subjects with delayed dark adaptation at baseline reached normal values during hyperglycemia. All examined aspects of rod adaptation were accelerated by hyperglycemia (time...... to rod-cone break -26%; time to rod intercept -16%, rod sensitivity recovery slope (log units/min) +35%), whereas no measurable change in cone adaptation was seen. The results are consistent with rod adaptation being limited by glycemia and with rod adaptation being delayed in subjects with diabetes...

  15. 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/

  16. Predictors of Bronchopulmonary Dysplasia Formation

    Directory of Open Access Journals (Sweden)

    Ye.N. Okhotnikova

    2013-12-01

    Full Text Available The authors studied and analyzed a group of prenatal, intra-, and neonatal factors leading to the development of bronchopulmonary dysplasia (BPD. Nnegative impact of BPD on the development of chronic bronchopulmonary pathology in children in the first three years of life was determined.

  17. Epithelial dysplasia in Caroli's disease.

    OpenAIRE

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

    1989-01-01

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

  18. Genetics Home Reference: geleophysic dysplasia

    Science.gov (United States)

    ... from the University of Kansas Medical Center: Heart / Cardiology Conditions The MPS Society (UK) ... for This Page Giray O, Kýr M, Bora E, Saylam G, Ugurlu B, Gürel D. Clinical and morphological phenotype of geleophysic dysplasia. Ann Trop ...

  19. Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness

    Directory of Open Access Journals (Sweden)

    Akhyani Maryam

    2007-01-01

    Full Text Available The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge, combination of all these features in ectodermal dysplasia has not been reported in the past. The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance.

  20. Anal dysplasia in kidney transplant recipients.

    Science.gov (United States)

    Ogilvie, James W; Park, Ina U; Downs, Levi S; Anderson, Kristin E; Hansberger, Jamie; Madoff, Robert D

    2008-12-01

    Although the risk of anal cancer in immunosuppressed individuals is significantly higher than in the general population, methods for detecting precancerous anal dysplasia have not been well studied in solid-organ transplant recipients. We sought to identify the incidence of anal dysplasia in kidney transplant recipients and associated factors that increase the likelihood of dysplasia. We prospectively analyzed kidney transplant recipients who had been immunosuppressed for at least 6 months with a functioning allograft. We interviewed willing participants and performed anal cytology sampling and high-resolution anoscopy; if we found microscopic abnormalities, we performed biopsies. We used univariate analysis to measure the association between variables and anal dysplasia. Of the 40 participants, 15 were women and 25 were men; their mean age was 61 years. Their median duration of immunosuppression was 5.6 years; 23 (59%) had fewer than 5 lifetime sexual partners, and 2 (5%) reported ever practicing anal intercourse. Of all cytology specimens, 35 (88%) had sufficient cells for interpretation and 2 (6%) demonstrated dysplasia. We performed biopsies in 11 patients; 6 had dysplasia (4 low-grade, 2 high-grade). Of these patients, five had normal anal cytology. The sensitivity of cytology to predict histologic evidence of dysplasia was 17%. Overall, seven (18%) had dysplasia according to either cytology or histology specimens; two (5%) had high-grade dysplasia. We found no significant associations between the tested variables and the presence of dysplasia. A significant proportion of kidney transplant recipients harbor anal dysplasia. One time anal cytology sampling was not predictive of histologic findings. Although these findings confirm their high risk for dysplasia, a larger sample is required to more accurately quantify risk factors for dysplasia and progression to cancer.

  1. Keratoconus as a manifestation of connective tissue dysplasia

    Directory of Open Access Journals (Sweden)

    M. M. Bikbov

    2015-03-01

    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 

  2. 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 

  3. Complex orthopaedic management of patients with skeletal dysplasias

    Directory of Open Access Journals (Sweden)

    A. G. Baindurashvili

    2014-01-01

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

  4. [Bronchopulmonary dysplasia: definitions and classifications].

    Science.gov (United States)

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

    2013-10-01

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

  5. Craniofacial features of cleidocranial dysplasia

    Directory of Open Access Journals (Sweden)

    Chin-Yun Pan

    2017-12-01

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

  6. 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.

  7. 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.

  8. 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. Copyright (c) 2008 Wiley-Liss, Inc.

  9. [Chlamydia trachomatis and cervix dysplasia].

    Science.gov (United States)

    Alaniz Sánchez, A; Flores Martínez, A; León Vistrain, M C; Castañeda Cano, E

    1995-09-01

    Fifty patients between 18 and 70 years of age from Gynecology and Obstetrics Department, Hospital General "Gonzalo Castañeda" ISSSTE, were studied. Patients were referred for bearing positive cytology with mild, moderate and severe dysplasia; also intentional search for Chlamydia trachomatis was made, both in cytology as well as with the immunofluorescence method, and also directed biopsy. A positive association was found in 10 patients (20%) proving that Chlamydia trachomatis is a promotor and modifier of cervical atypia.

  10. Epithelial dysplasia in Caroli's disease.

    Science.gov (United States)

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

    1989-01-01

    We report a young patient with a solitary intrahepatic cyst without demonstrable connection with the biliary tree. The operative appearances suggested hydatid disease but histological examination of the resected cyst showed that it was the result of Caroli's disease already complicated by severe dysplasia. This case provides further evidence for the premalignant nature of Caroli's disease. Images Fig. 1 Fig. 2 Fig. 3 PMID:2767513

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

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2015-01-01

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

  12. Pelvic radiograph in skeletal dysplasias: An approach

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2017-01-01

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

  13. Genetics Home Reference: spondyloepimetaphyseal dysplasia, Strudwick type

    Science.gov (United States)

    ... and CRISPR-Cas9? What is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Leprosy Polycystic ovary syndrome Gorlin-Chaudhry-Moss syndrome All New & Updated Pages ...

  14. FIBROUS DYSPLASIA IN THE MAXILLO-MANDIBULAR REGION – case report

    Directory of Open Access Journals (Sweden)

    Radka Cholakova

    2010-07-01

    Full Text Available 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 displasia 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.The aim of this article is to represent a rare case of bilateral fibrous dysplasia of the upper and lower jaws, in combination with Intellectual disability (previously called mental retardation. The clinical diagnostic approach including imaging studies: Orthopantomogram (OPG and 3D tomography is described. Histological examination was also essential for obtaining a definitive diagnosis.

  15. [Surgery for pediatric intractable epilepsy due to posterior quadrantic cortical dysplasia].

    Science.gov (United States)

    Liu, Qing-Zhu; Cai, Li-Xin; Liu, Xiao-Yan; Jiang, Yu-Wu; Wang, Shuang; Ji, Tao-Yun; Wang, Wen; Cheng, Wei-Ke; Wang, Ruo-Fan

    2017-03-01

    To investigate the clinical features and surgical strategy for pediatric intractable epilepsy due to posterior quadrantic cortical dysplasia and to assess the surgical outcomes. The clinical features and preoperative evaluation results of 14 children with intractable epilepsy due to posterior quadrantic cortical dysplasia were retrospectively analyzed. The localization values of video-electroencephalography and intraoperative monitoring and the indications, advantages and disadvantages of temporoparietooccipital disconnection were evaluated. The 14 children had different seizure types, of which spasm was the most common one. The lesions of cortical dysplasia involved the central cerebral region in 2 cases. After temporoparietooccipital disconnection in 14 patients, 13 cases were seizure-free; only one case still had seizures, but the frequency dropped by more than 50%. Temporoparietooccipital disconnection is a safe and effective surgical procedure for children with intractable epilepsy due to posterior quadrantic cortical dysplasia.

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

    Directory of Open Access Journals (Sweden)

    Eun Jin Woo

    Full Text Available Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

  17. 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.

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

    Science.gov (United States)

    ... bone. In babies and children with developmental dysplasia (dislocation) of the hip (DDH), the hip joint has not formed normally. ... the American Academy of Orthopaedic Surgeons. .org Developmental Dislocation (Dysplasia) of the Hip cont. • Family history of DDH (parents or siblings) • ...

  19. Conservative Management of Hip Dysplasia.

    Science.gov (United States)

    Harper, Tisha A M

    2017-07-01

    Hip dysplasia (HD) is a common orthopedic condition seen in small animal patients that leads to osteoarthritis of the coxofemoral joint. The disease can be managed conservatively or surgically. The goals of surgical treatment in the immature patient are to either prevent the clinical signs of HD or to prevent or slow the progression of osteoarthritis. In mature patients surgery is used as a salvage procedure to treat debilitating osteoarthritis. Conservative management can be used in dogs with mild or intermittent clinical signs and includes nutritional management and weight control, exercise modification, physical rehabilitation, pain management and disease-modifying agents. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Ectodermal dysplasia in identical twins

    Directory of Open Access Journals (Sweden)

    Gurkar Haraswarupa Puttaraju

    2013-01-01

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

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

    Science.gov (United States)

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

    2016-04-01

    Focal cortical dysplasia type IIB is a commonly encountered subtype of developmental malformation of the cerebral cortex and is often associated with pharmacoresistant epilepsy. In this study, to investigate the molecular etiology of focal cortical dysplasia type IIB, the authors performed micro ribonucleic acid (RNA) microarray on surgical specimens from 5 children (2 female and 3 male, mean age was 73.4 months, range 50-112 months) diagnosed of focal cortical dysplasia type IIB and matched normal tissue adjacent to the lesion. In all, 24 micro RNAs were differentially expressed in focal cortical dysplasia type IIB, and the microarray results were validated using quantitative real-time polymerase chain reaction (PCR). Then the putative target genes of the differentially expressed micro RNAs were identified by bioinformatics analysis. Moreover, biological significance of the target genes was evaluated by investigating the pathways in which the genes were enriched, and the Hippo signaling pathway was proposed to be highly related with the pathogenesis of focal cortical dysplasia type IIB. © The Author(s) 2015.

  2. DYSPLASIA OF HIP DEVELOPMENT: UPDATE

    Science.gov (United States)

    Guarniero, Roberto

    2015-01-01

    The term “developmental dysplasia of the hip” (DDH) includes a wide spectrum of abnormalities that affect the hip during its growth, ranging from dysplasia to joint dislocation and going through different degrees of coxofemoral subluxation. The incidence of DDH is variable, and depends on a number of factors, including geographical location. Approximately one in 1,000 newborn infants may present hip dislocation and around 10 in 1,000 present hip instability. Brazil has an incidence of five per 1,000 in terms of findings of a positive Ortolani sign, which is the early clinical sign for detecting the disorder. The risk factors for DDH include: female sex, white skin color, primiparity, young mother, breech presentation at birth, family history, oligohydramnios, newborns with greater weight and height, and deformities of the feet or spine. Hip examinations should be routine for newborns, and should be emphasized in maternity units. Among newborns and infants, the diagnosis of DDH is preeminently clinical and is made using the Ortolani and Barlow maneuvers. Conventional radiography is of limited value for confirming the diagnosis of DDH among newborns, and ultrasound of the hip is the ideal examination. The treatment of DDH is challenging, both for pediatric orthopedists and for general practitioners. The objectives of the treatment include diagnosis as early as possible, joint reduction and stabilization of the hip in a secure position. Classically, treatment options are divided according to different age groups, at the time of diagnosis. PMID:27022528

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

    Directory of Open Access Journals (Sweden)

    Vasileios Sakellariou

    2014-09-01

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

  4. The radiologic features of fibrous dysplasia of the craniofacial bones.

    Science.gov (United States)

    Obisesan, A A; Lagundoye, S B; Daramola, J O; Ajagbe, H A; Oluwasanmi, J O

    1977-12-01

    The radiographs of twenty-five patients (eight males, seventeen females) with histologically proven craniofacial fibrous dysplasia were analyzed. The lesions could be classified into six radiologic types: (1) peau d'orange, (2) whorled plaquelike, (3) diffuse sclerotic, (4) cystlike (multilocular or unilocular), (5) pagetoid, and (6) chalky types. The peau d'orange type was by far the most common (40 per cent) followed by the plaquelike (20 per cent, cystlike (16 per cent), and sclerotic (12 per cent). Most of the patients were young, with 60 per cent being underthe age of 20 years and 96 per cent under the age of 40 years.

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

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

    Directory of Open Access Journals (Sweden)

    Rudrashish Haldar

    2013-01-01

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

  7. Metaplasia: tissue injury adaptation and a precursor to the dysplasia-cancer sequence.

    Science.gov (United States)

    Giroux, Veronique; Rustgi, Anil K

    2017-10-01

    Metaplasia is the replacement of one differentiated somatic cell type with another differentiated somatic cell type in the same tissue. Typically, metaplasia is triggered by environmental stimuli, which may act in concert with the deleterious effects of microorganisms and inflammation. The cell of origin for intestinal metaplasia in the oesophagus and stomach and for pancreatic acinar-ductal metaplasia has been posited through genetic mouse models and lineage tracing but has not been identified in other types of metaplasia, such as squamous metaplasia. A hallmark of metaplasia is a change in cellular identity, and this process can be regulated by transcription factors that initiate and/or maintain cellular identity, perhaps in concert with epigenetic reprogramming. Universally, metaplasia is a precursor to low-grade dysplasia, which can culminate in high-grade dysplasia and carcinoma. Improved clinical screening for and surveillance of metaplasia might lead to better prevention or early detection of dysplasia and cancer.

  8. Prevalence of hip dysplasia, elbow dysplasia and humeral head osteochondrosis in dog breeds in Belgium.

    Science.gov (United States)

    Coopman, F; Verhoeven, G; Saunders, J; Duchateau, L; van Bree, H

    2008-11-29

    The official screening results of the Belgian National Committee for Inherited Skeletal Disorders, an affiliate of the Belgian Kennel Club, have been used to estimate the prevalence of hip dysplasia, elbow dysplasia and humeral head osteochondrosis in the dog breeds in Belgium, and these have been compared with reported prevalence data from other countries. In some breeds, the prevalence of hip and elbow dysplasia is very high, both in Belgium and in other countries. Comparisons of the prevalence of hip dysplasia are not always feasible because different systems are used to evaluate the quality of the hips and because there is no strict consensus on what should be considered a diseased hip joint.

  9. Histopathological morphometric study of cochleosaccular dysplasia in Dalmatian dogs.

    Science.gov (United States)

    Sampaio, Andre L L; Paine, Elizabeth; Schachern, Patricia A; Sutherland, Carolyn; Cureoglu, Sebahattin; Olivieira, Carlos A C P; Paparella, Michael M

    2010-08-01

    To analyze temporal bones of deaf Dalmatian dogs from 5 days after birth to adulthood to better understand the pathogenesis of cochleosaccular dysplasia. This is an experimental animal histopathological temporal bone study that included two groups of temporal bones. Group I consisted of 41 temporal bones from deaf Dalmatian dogs and group II of 25 temporal bones from 15 "normal" aged-matched, hearing Black Labradors. Morphometric analysis included: stria vascularis and spiral ligament area measurements, and cell counts of spiral ganglion, Scarpa's ganglion, and hair cells of saccular macula. The following findings were significantly less in deaf Dalmatian group compared to hearing Labradors: (1) cellular area of the stria vascularis in all cochlear turns; (2) cellular area of spiral ligament in the inferior part of the basal turn; (3) cellular density of spiral ganglion cells within segments III and IV; (4) number of Scarpa's ganglion cells; and (5) density of saccular hair cells types I and II. A borderline negative correlation was found between average density of spiral ganglion cells of segments III and IV and age in group I. Young deaf animals showed some cochlear hair cells, however in adult dogs all hair cells were replaced by supporting cells. General pattern of cochleosaccular dysplasia is variable, even when only one etiology, the genetic one, is involved. The gradual degeneration of inner ear elements in the cochleosaccular degeneration might indicate that early intervention might be crucial to stop the progression of cochleosaccular dysplasia. Copyright (c) 2010 Elsevier Ireland Ltd. All rights reserved.

  10. Developmental hip dysplasia in adolescence

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2009-01-01

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

  11. Posttraumatic Cranial Cystic Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Arata Tomiyama

    2011-01-01

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

  12. 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. © The Author(s) 2014.

  13. Genetic heterogeneity in multiple epiphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Deere, M.; Hecht, J.T. [Univ. of Texas Medical School, Houston (United States); Blanton, S.H. [Univ. of Virginia, Charlottesville, VA (United States); Scott, C.I. [A.I. Dupont Institute, Wilmington, DE (United States); Langer, L.O. [Univ. of Minnesota, Minneapolis, MN (United States); Pauli, R.M. [Univ. of Wisconsin, Madison (United States)

    1995-03-01

    Multiple epiphyseal dysplasia (MED) comprises a group of hereditary chondrodysplasias in which there are major anatomic abnormalities of the long tubular bones. The Fairbank and Ribbing types are the most frequently cited types of MED. They are primarily defined radiographically and are autosomal dominant conditions. Recently, MED in one family was shown to map to the pericentromeric region of chromosome 19 and is probably allelic to pseudoachondroplasa. We have tested linkage with six short tandem repeat markers from chromosome 19 to autosomal dominant MED in one four-generation family and to MED in a unique family with three of seven siblings affected and with unaffected parents. Autosomal dominant MED in family 1 was linked with a maximum LOD score, at D19S212, of 3.22 at a recombination fraction ({theta}) of .00. Linkage to chromosome 19 was excluded with MED in the other family, under both autosomal recessive and autosomal dominant, with either reduced-penetrance or germ line-mosaicism models. Linkage to candidate genes COL9A1, COL9A2, and COL11A2 was tested and excluded for both genetic models in this family. COL11A1 was excluded under a recessive model. We have confirmed linkage of autosomal dominant Fairbank MED to chromosome 19 and have demonstrated that MED is genetically heterogeneous. 16 refs., 9 figs., 3 tabs.

  14. Genetic heterogeneity in multiple epiphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Deere, M. [Univ. of Texas, Houston (United States); Blanton, S.H. [Univ. of Virginia, Charlottsville (United States); Scott, C.I. [A.I. Dupont Institute, Wilmington, DE (United States)] [and others

    1994-09-01

    Multiple epiphyseal dysplasia (MED) is generally an autosomal dominant hereditary chondrodystrophy characterized by abnormal epiphyseal centers of the long bones. There are at least two clinical and radiographical MED phenotypes, Fairbank and Ribbing forms, with the former having been better characterized. While less frequent, there are also reports of an autosomal recessive type which does not differ radiographically from the autosomal dominant type. Recently, a family with MED has been shown to map to the pericentromeric region of chromosome 19. We have tested linkage to six short tandem repeat markers from chromosome 19 in three multigenerational families with Fairbank MED and another MED family in which there were three of seven affected siblings with unaffected parents. The three families with autosomal dominant MED were linked to D19S215 with a maximum lod score of 3.82 at {theta} = 0.0. Linkage to chromosome 19 was excluded in the fourth family under autosomal recessive and autosomal dominant models with either reduced penetrance or germline mosaicism. Lod scores were -{infinity} and -2.37 at {theta} = 0.0 for D19S215, respectively. Linkage to candidate genes, Col9A1, Col9A2, and Col11A1 was tested and excluded for both models in this family. Col11A1 was excluded under a recessive model. We have confirmed linkage of MED, Fairbank, to chromosome 19 and demonstrated that MED is genetically heterogeneous.

  15. Genetic predisposition to bronchopulmonary dysplasia.

    Science.gov (United States)

    Lal, Charitharth Vivek; Ambalavanan, Namasivayam

    2015-12-01

    The objective of this study is to review the candidate gene and genome-wide association studies relevant to bronchopulmonary dysplasia, and to discuss the emerging understanding of the complexities involved in genetic predisposition to bronchopulmonary dysplasia and its outcomes. Genetic factors contribute much of the variance in risk for BPD. Studies to date evaluating single or a few candidate genes have not been successful in yielding results that are replicated in GWAS, perhaps due to more stringent p-value thresholds. GWAS studies have identified only a single gene (SPOCK2) at genome-wide significance in a European White and African cohort, which was not replicated in two North American studies. Pathway gene-set analysis in a North American cohort confirmed involvement of known pathways of lung development and repair (e.g., CD44 and phosphorus oxygen lyase activity) and indicated novel molecules and pathways (e.g., adenosine deaminase and targets of miR-219) involved in genetic predisposition to BPD. The genetic basis of severe BPD is different from that of mild/moderate BPD, and the variants/pathways associated with BPD vary by race/ethnicity. A pilot study of whole exome sequencing identified hundreds of genes of interest, and indicated the overall feasibility as well as complexity of this approach. Better phenotyping of BPD by severity and pathophysiology, and careful analysis of race/ethnicity is required to gain a better understanding of the genetic basis of BPD. Future translational studies are required for the identification of potential genetic predispositions (rare variants and dysregulated pathways) by next-generation sequencing methods in individual infants (personalized genomics). Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Is congenital talipes equinovarus a risk factor for pathological dysplasia of the hip? : a 21-year prospective, longitudinal observational study.

    Science.gov (United States)

    Paton, R W; Choudry, Q A; Jugdey, R; Hughes, S

    2014-11-01

    There is controversy whether congenital foot abnormalities are true risk factors for pathological dysplasia of the hip. Previous United Kingdom screening guidelines considered congenital talipes equinovarus (CTEV) to be a risk factor for hip dysplasia, but present guidelines do not. We assessed the potential relationship between pathological dysplasia of the hip and fixed idiopathic CTEV. We present a single-centre 21-year prospective longitudinal observational study. All fixed idiopathic CTEV cases were classified (Harrold and Walker Types 1 to 3) and the hips clinically and sonographically assessed. Sonographic Graf Type III, IV and radiological irreducible hip dislocation were considered to be pathological hip dysplasia. Over 21 years there were 139 children with 199 cases of fixed idiopathic CTEV feet. Sonographically, there were 259 normal hips, 18 Graf Type II hips, 1 Graf Type III hip and 0 Graf Type IV hip. There were no cases of radiological or sonographic irreducible hip dislocation. Fixed idiopathic CTEV should not be considered as a significant risk factor for pathological hip dysplasia. This conclusion is in keeping with the current newborn and infant physical examination guidelines in which the only risk factors routinely screened are family history and breech presentation. Our findings suggest CTEV should not be considered a significant risk factor in pathological dysplasia of the hip. ©2014 The British Editorial Society of Bone & Joint Surgery.

  17. Histogenesis of retinal dysplasia in trisomy 13

    National Research Council Canada - National Science Library

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

    2007-01-01

    .... 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...

  18. Frontometaphyseal dysplasia; Dysplazja czolowo-przynasadowa

    Energy Technology Data Exchange (ETDEWEB)

    Bieganski, T.; Makowski, A. [Zaklad Radiologii Pediatrycznej and Oddzial Otiatrii i Laryngologii, Centrum Zdrowia Matki Polki, Lodz (Poland)

    1995-12-31

    The frequency of the features of frontometaphyseal dysplasia was calculated on the basis of literature data. Our own observation of this disorder is described with special reference to otologic changes. (author) 5 refs, 4 figs, 2 tabs

  19. Hip dysplasia in wrestlers: three lessons learned.

    Science.gov (United States)

    Byrd, J W Thomas; Clohisy, John C; Kim, Young-Jo; Gwathmey, F Winston; Jones, Kay S; Millis, Michael B

    2017-12-01

    Hip problems due to dysplasia are commonly associated with female athletes in sports demanding supraphysiologic motion, such as ballet, gymnastics and figure skating. However, hip problems are rarely mentioned among wrestlers, a male sport in which flexibility is advantageous. Dysplasia may have a mostly unrecognized prevalence among wrestlers that can lead to problems and benefit from reorientation periacetabular osteotomy (PAO). Study design in this research is Level 4 evidence case reports. Three consecutive intercollegiate wrestlers ages 20, 21 and 22 years underwent PAO for dysplasia and are reported. Two underwent concomitant arthroscopy. Each returned successfully to intercollegiate wrestling at 6, 8 and 11 months. There were no complications. This work concludes that dysplasia has an unknown but mostly unrecognized prevalence among wrestlers. With proper recognition and treatment with PAO, there is a reasonable expectation that they could return to wrestling.

  20. Dysplasia epiphysealis hemimelica of the tibial tubercle

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-03-15

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

  1. Treatment of canine hip dysplasia: a review.

    OpenAIRE

    Remedios, A M; Fries, C L

    1995-01-01

    This article discusses the treatment approaches and recommendations for canine hip dysplasia. A search of the literature database MEDLINE (1969-1994) was conducted and relevant journal articles regarding the medical and surgical treatment of hip dysplasia were selected and reviewed. Dysplastic dogs can be divided, for treatment purposes, into those with no or minimal osteoarthrosis, and those with moderate to severe osteoarthrosis. In young animals with joint laxity and pain, but with no or m...

  2. The Prevalence and Treatment of Hip Dysplasia in Prader-Willi Syndrome (PWS).

    Science.gov (United States)

    Trizno, Anastasiya A; Jones, Alexander S; Carry, Patrick M; Georgopoulos, Gaia

    2018-01-05

    Prader-Willi syndrome (PWS) is a genetic disorder with multisystem involvement. There are a number of associated orthopaedic manifestations, the most recognized of which is scoliosis. The aim of this study was to assess the prevalence of hip dysplasia and to investigate its treatment in patients with PWS. Following IRB approval, all patients seen at our institution's Prader-Willi multidisciplinary clinic were retrospectively reviewed. Only patients with an ultrasound, anteroposterior (AP) spine, AP abdomen, AP hip radiograph, and/or skeletal survey were included in the study. The presence of hip dysplasia was determined based on ultrasonographic and/or radiographic measurements performed by a single fellowship trained pediatric orthopaedic surgeon. A multivariable logistic regression analysis was used to test the association between patient demographics and the prevalence of hip dysplasia. Age at diagnosis, treatment type, and outcomes were recorded for patients that underwent treatment for hip dysplasia. Hip dysplasia was identified in 30% (27/90) of the patient population. Two of the 27 patients (7.4%) had normal films but had a history of resolved hip dysplasia. Prevalence was not associated with sex (P=0.7072), genetic subtype (P=0.5504), race (P=0.8537), ethnicity (P=0.2191), or duration of follow-up (P=0.4421). Eight of the 27 patients (30%) underwent hip treatment by Pavlik harness (2/8), Pavlik harness and closed reduction (1/8), closed reduction (3/8), open reduction (1/8), and unspecified hip surgery (1/8). The mean age at diagnosis was 2 months for the patients that were successfully treated for hip dysplasia (3/8) and 12 months for those who had residual dysplasia following the treatment (5/8). Our study demonstrates a higher prevalence of hip dysplasia in patients with PWS than previously documented. The age at which hip dysplasia develops remains unknown; therefore, we recommend an ultrasound screening for all infants with PWS at 6 weeks of age and

  3. Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1*

    Science.gov (United States)

    Sarmento, Dmitry José de Santana; de Carvalho, Sérgio Henrique Gonçalves; de Araújo Filho, José Cadmo Wanderley Peregrino; Carvalho, Marianne de Vasconcelos; da Silveira, Éricka Janine Dantas

    2017-01-01

    We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. So far, no changes have been observed in the patient's clinical status. We observed no recurrence of peripheral giant cell granuloma. To the best of our knowledge, the present case is the first report of a patient with neurofibromatosis Type 1 associated with a giant cell lesion and florid cemento-osseous dysplasia. PMID:28538890

  4. Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1.

    Science.gov (United States)

    Sarmento, Dmitry José de Santana; Carvalho, Sérgio Henrique Gonçalves de; Araújo, José Cadmo Wanderley Peregrino de; Carvalho, Marianne de Vasconcelos; Silveira, Éricka Janine Dantas da

    2017-01-01

    We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. So far, no changes have been observed in the patient's clinical status. We observed no recurrence of peripheral giant cell granuloma. To the best of our knowledge, the present case is the first report of a patient with neurofibromatosis Type 1 associated with a giant cell lesion and florid cemento-osseous dysplasia.

  5. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

    Science.gov (United States)

    Hall, C M; Elçioglu, N H; Shaw, D G

    1998-01-01

    Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal intelligence, show striking epiphyseal and metaphyseal changes of the long bones, and have joint laxity and multiple dislocations of large joints, which are particularly incapacitating at the knees. These three cases represent a sporadic, previously unreported skeletal dysplasia with spondyloepimetaphyseal distribution and multiple large joint dislocations. Images PMID:9678701

  6. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

    Science.gov (United States)

    Hall, C M; Elçioglu, N H; Shaw, D G

    1998-07-01

    Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal intelligence, show striking epiphyseal and metaphyseal changes of the long bones, and have joint laxity and multiple dislocations of large joints, which are particularly incapacitating at the knees. These three cases represent a sporadic, previously unreported skeletal dysplasia with spondyloepimetaphyseal distribution and multiple large joint dislocations.

  7. [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%; Pincidence rate of bronchial dysplasia 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.

  8. Rates of bronchopulmonary dysplasia in very preterm neonates in Europe

    DEFF Research Database (Denmark)

    Gortner, Ludwig; Misselwitz, Björn; Milligan, David

    2011-01-01

    A considerable local variability in the rate of bronchopulmonary dysplasia (BPD) has been recorded previously.......A considerable local variability in the rate of bronchopulmonary dysplasia (BPD) has been recorded previously....

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

    African Journals Online (AJOL)

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

  10. COMPLEX ORTHOPAEDIC MANAGEMENT OF PATIENTS WITH SKELETAL DYSPLASIAS

    OpenAIRE

    A.G. Baindurashvili; V. M. Kenis; E. V. Melchenko; Grill, F.; A. Al-Kaissi

    2014-01-01

    Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the project of scientific cooperation between Turner Paediatric Orthopaedic Institute and Orthopaedic Hospital Vienna-Speising. The spectrum of diagnoses included multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita, diastrophic dysplas...

  11. Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia

    NARCIS (Netherlands)

    Bellini, Carlo; Hennekam, Raoul C. M.; Boccardo, Francesco; Campisi, Corradino; Serra, Giovanni; Bonioli, Eugenio

    2006-01-01

    Six newborns that presented at birth with nonimmune hydrops fetalis and for whom no cause could be found were investigated for the presence of lymphatic dysplasia. Careful analysis led to findings of some degree of lymphatic dysplasia in all patients. This suggests that lymphatic dysplasia may

  12. Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): ''SMD-Corner Fracture Type'' (DCV/SMD-CF) demonstrated in most reported cases

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, G. [Texas Univ., Dallas, TX (United States). Dept. of Radiology; Department of Radiology, Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219 (United States); Birch, J.G.; Herring, J.A. [Department of Orthopedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, TX (United States)

    2000-01-01

    Background. This paper reports three children with short stature: developmental coxa vara unilateral in the first case and bilateral in the other two; somewhat squared and ''ovoid'' vertebral bodies in the first patient, and normal to slightly tall vertebral bodies in the third; metaphyseal changes in some long tubular bones including bone fragments similar to the corner fractures seen in child abuse in all three patients. Materials and methods. The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral ''coxa vara''; their brother, also of short stature, had bilateral coxa valga with otherwise normal femoral heads and necks, and mild metaphyseal changes associated with two minute ''corner fractures'' in the proximal metaphysis of the left tibia. Results. A review of reported cases of developmental coxa vara associated with spondylometaphyseal dysplasia revealed that simulated corner fractures were present in most instances. (orig.)

  13. Variable manifestations of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

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

    1985-01-01

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

  14. A novel syndrome resembling Desbuquois dysplasia.

    Science.gov (United States)

    Al Kaissi, Ali; Nessib, N; Ghachem, M B; Hammou, A; Guiddana, N; Kozlowski, K

    2005-01-01

    We report on three Tunisian siblings with a rare assortment of clinical and radiographic abnormalities closely resembling Desbuquois dysplasia. However, the siblings have had normal facies, normal hands, and were mentally normal. There were severe musculo-skeletal distinguishing features such as joint stiffness, severe kyphoscoliosis, and multiple large joint dislocations. Moreover, the patients had an additional remarkable radiographic feature not reported in Desbequois dysplasia-multiple carpal ossification centers. The diagnosis of Desbuquois dysplasia is more difficult in older children and adults as the characteristic facial features of early childhood may recede, and the metaphyseal growth plates obliterate. This condition of these patients represents a novel Desbuquois-like syndrome. (c) 2004 Wiley-Liss, Inc.

  15. The variable manifestations of dysplasia epiphysealis hemimelica.

    Science.gov (United States)

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

    1985-01-01

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

  16. Intestinal epithelial dysplasia (tufting enteropathy

    Directory of Open Access Journals (Sweden)

    de Serres Natacha

    2007-04-01

    Full Text Available Abstract Intestinal epithelial dysplasia (IED, also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. To date, no epidemiological data are available, however, the prevalence can be estimated at around 1/50,000–100,000 live births in Western Europe. The prevalence seems higher in areas with high degree of consanguinity and in patients of Arabic origin. Infants develop within the first days after birth a watery diarrhea persistent in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal rectal or esophageal atresia. IED is thought to be related to abnormal enterocytes development and/or differentiation. Nonspecific punctuated keratitis was reported in more than 60% of patients. Histology shows various degree of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium with disorganization of surface enterocytes with focal crowding, resembling tufts. Several associated specific features were reported, including abnormal deposition of laminin and heparan sulfate proteoglycan (HSPG in the basement membrane, increased expression of desmoglein and ultrastructural changes in the desmosomes, and abnormal distribution of α2β1 integrin adhesion molecules. One model of transgenic mice in which the gene encoding the transcription factor Elf3 is disrupted have morphologic features resembling IED. Parental consanguinity and/or affected siblings suggest an autosomal recessive transmission but the causative gene(s have not been yet identified making prenatal diagnosis unavailable. Some infants have a milder phenotype than others but in most patients, the severity of the intestinal malabsorption even with enteral feeding make them totally dependent on daily long-term parenteral nutrition with a subsequent

  17. Early diagnosis of multiple epiphyseal dysplasia.

    Science.gov (United States)

    Ingram, R R

    1992-01-01

    In 20 children with multiple epiphyseal dysplasia, an objective assessment of epiphyseal size was made to determine its value in early diagnosis of this condition. All had wrist radiographs taken at age less than 15 years, and 16 children had knee radiographs. Before the epiphyses become fully ossified, abnormalities of size and shape may be difficult to assess, but carpal length/width ratios were abnormal in 60%, and distal femoral epiphyseal/metaphyseal ratios were abnormal in 56%. When both measurements were combined, 80% could be classified as abnormal. Objective radiologic assessment of epiphyses is of value in early diagnosis of multiple epiphyseal dysplasia.

  18. 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

  19. Association of TLR polymorphisms with bronchopulmonary dysplasia.

    Science.gov (United States)

    Malash, Amr Hosny; Ali, Aliaa Adel; Samy, Rania Mohamed; Shamma, Radwa Ahmed

    2016-10-30

    Bronchopulmonary dysplasia (BPD) remains a leading cause of morbidity and mortality during infancy. Evidence suggests that the Toll-like receptor (TLR) signaling pathway plays an integral role in lung inflammation and injury. This study aimed to detect single nucleotide polymorphisms (SNPs) in TLR pathway genes [TLR5 and Toll-interleukin 1 receptor domain-containing adaptor protein (TIRAP)] among preterm neonates and to determine their association with the development and severity of bronchopulmonary dysplasia. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. Camptomelic dysplasia: prenatal diagnosis by ultrasound.

    Science.gov (United States)

    Natasha, Gupta; Ghai, Rajeev; Shah, Dheeraj; Kiran, P S

    2006-09-01

    We report a case of camptomelic dysplasia, an extremely rare lethal congenital bony dysplasia with an incidence of about 2 per million live births. Diagnosis was made antenatally at a gestational age of about 25 weeks by sonographic demonstration of anterior bowing of long bones, hypoplastic scapulae, bilateral talipes equinovarus, and normally ossified unfractured ribs. The mother elected to terminate the pregnancy, and the diagnosis was confirmed on clinical and radiographic examination of the fetus. Radiological features and differential diagnoses of this entity are discussed.

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

    Directory of Open Access Journals (Sweden)

    Xihai Li

    2014-07-01

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

  2. Associations among exercise duration, lameness severity, and hip joint range of motion in Labrador Retrievers with hip dysplasia.

    Science.gov (United States)

    Greene, Laura M; Marcellin-Little, Denis J; Lascelles, B Duncan X

    2013-06-01

    To evaluate factors associated with lameness severity and hip joint range of motion in dogs with hip dysplasia and to assess the association between hip joint range of motion and degree of lameness. Prospective case series. 60 client-owned Labrador Retrievers with hip dysplasia. Owners completed a questionnaire regarding their dogs' daily exercise duration and type (i.e., low impact vs high impact) and lifestyle. Range of motion of affected hip joints was measured with a transparent plastic goniometer. The presence of subluxation or luxation of hip joints as a consequence of hip dysplasia and the size of the largest osteophytes or enthesophytes of hip joints on ventrodorsal radiographic images of the pelvis were recorded. Multivariate analyses were performed to identify factors associated with lameness, loss of hip joint flexion, and loss of hip joint extension and to identify factors associated with the presence of large osteophytes. Exercise was associated with a decrease in the severity of lameness in dogs with hip dysplasia. The strength of this inverse relationship increased with longer exercise duration. Lameness was more severe in dogs with hip joint luxation than in dogs without luxation. Hip joint extension was 1° lower for each year of age, and osteophyte or enthesophyte size was 1 mm larger with each 3-year increase in age. Longer daily exercise duration was associated with lower lameness scores in dogs with hip dysplasia. Dogs with hip joint luxation secondary to hip dysplasia had higher lameness scores than did dogs without hip joint luxation.

  3. Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment.

    Science.gov (United States)

    Barros, Carolina Amorim; Rezende, Guilherme de Castro; Araujo Júnior, Edward; Tonni, Gabriele; Pereira, Alamanda Kfoury

    2016-01-01

    The aim of this study was to assess the capacity of three-dimensional ultrasound (3DUS) for predicting lethality in fetuses with skeletal dysplasia. Twenty-four fetuses between 20 and 32 weeks of gestation were assessed. Bilateral lung volume scans were performed three times in each fetus during one ultrasound session. The virtual organ computer-aided analysis method was used to obtain a sequence of six sections of each lung around a fixed axis, and a rotation angle of 30° was adopted. Fetal lung volume measurements were analyzed according to the reference range. After birth, lung hypoplasia was diagnosed considering clinical and radiological criteria. Of all cases of skeletal dysplasia, 18 (75%) were lethal. Among the lethal cases, after postnatal diagnosis, four were osteogenesis imperfecta type II, three were thanatophoric dysplasia and two were campomelic dysplasia. The remaining nine cases remained without a definitive diagnosis. The accuracy of 3DUS in predicting lethality in fetuses with skeletal dysplasia was high, with a sensitivity of 83.3%, specificity of 100%, positive predictive value of 100% and negative predictive value of 66.7%. The kappa index of 0.174 showed a good agreement between the possibility of lethality when the 3DUS volume measurement was altered and real lethality after birth (p lung volume measurement is a good predictor of lethal pulmonary hypoplasia in fetuses with skeletal dysplasia, with high accuracy.

  4. Craniometaphyseal Dysplasia: A review and novel oral manifestation.

    Science.gov (United States)

    Martin, K; Nathwani, S; Bunyan, R

    2017-01-01

    Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans. This novel finding can aid the clinician in the management of patients with Craniometaphyseal Dysplasia, and complications that can arise in dentoalveolar surgery.

  5. Progressive rod-cone degeneration (PRCD) in selected dog breeds and variability in its phenotypic expression

    Czech Academy of Sciences Publication Activity Database

    Dostál, Jaromír; Hrdlicová, Anna; Horák, Pavel

    2011-01-01

    Roč. 56, č. 5 (2011), s. 243-247 ISSN 0375-8427 Institutional research plan: CEZ:AV0Z50450515 Keywords : canine * retinitis pigmentosa * autosomal Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.748, year: 2011

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

    DEFF Research Database (Denmark)

    Junge, Jette; Poulsen, H; Horn, T

    1995-01-01

    whereas no case of pure basaloid type was found. Various combinations of warty and basaloid types were shown in 52 cases and mixed forms in 7 cases. The results indicate that pure forms of warty and basaloid types probably do not exist. HPV DNA was detected by PCR in 51/58 cases (88%) (45 with HPV type 16...... and 6 with HPV type 33) evenly distributed in all age groups and in all types of lesions (WHO and Toki et al. 1991). By ISH HPV was detected in 24/62 cases (39%) (21 with HPV type 16/18 and 3 with HPV type 31/33), nearly always in warty areas. All these cases were positive for the same virus type by PCR....... No case revealed more than one type of HPV. HPV type 6, 11, 18, and 31 were not detected by PCR. The results indicate a correlation between HPV type 16 and 33 and dysplasia/carcinoma in situ in the vulva....

  7. Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern

    African Journals Online (AJOL)

    Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in ...

  8. Arrythmogenic right ventricular dysplasia/cardiomyopathy | Scholtz ...

    African Journals Online (AJOL)

    Arrythmogenic right ventricular dysplasia/cardiomyopathy (ARVD) is a familial cardiomyopathy characterised clinically by right ventricular (RV) dysfunction as well ... can occur and appears to correlate with increased disease severity.3,4 Owing to the complexity of the disease, Task Force Criteria for diagnosis of ARVD were ...

  9. A new lethal sclerosing bone dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kingston, H.M. (Saint Mary' s Hospital, Manchester (UK). Regional Genetics Centre); Freeman, J.S. (Tameside General Hospital, Ashton-under-Lyne (UK). Dept. of Paediatrics); Hall, C.M. (Hospital for Sick Children, London (UK). Dept. of Paediatric Radiology)

    1991-02-01

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

  10. 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

  11. Fibrous dysplasia of the jaws in Nigerians.

    Science.gov (United States)

    Daramola, J O; Ajagbe, H A; Obisesan, A A; Lagundoye, S B; Oluwasanmi, J O

    1976-09-01

    The clinicoradiologic features and surgical treatment of fibrous dysplasia of the jaws in forty-seven Nigerian patients are described. Marked facial deformity and functional disturbances were the main indications for operation. We noticed one case of malignant transformation. It is our opinion that a more-than-usual aggressive excision is indicated in Nigerian patients.

  12. Dietary vitamin C and uterine cervical dysplasia.

    Science.gov (United States)

    Wassertheil-Smoller, S; Romney, S L; Wylie-Rosett, J; Slagle, S; Miller, G; Lucido, D; Duttagupta, C; Palan, P R

    1981-11-01

    A case-control study of women with cervical abnormalities identified through Pap smears, was conducted in the Bronx, New York, to explore the relationship between nutritional intake and cervical dysplasia. Nutrient intake was estimated from computer analysis of three-day food records and 24-hour recall for 169 study participants (87 cases, 82 controls), including a subset of 49 pairs matched for age, race and parity. Mean vitamin C intake per day from three-day food record for controls was 107 mg, compared to 80 mg for cases (p less than 0.01). Analysis of matched pairs showed similar results; 29% of cases compared to 3% of controls in matched subset had vitamin C intake less than 50% of the recommended daily allowance, yielding a ten-fold increase in risk of cervical dysplasia as estimated by odds ratio (p less than 0.05). Younger age, greater frequency of sexual intercourse and younger age at first intercourse were associated with higher risk of cervical dysplasia. Multiple logistic analyses indicated that low vitamin C intake is an independent contributor to risk of severe cervical dysplasia when age and sexual activity variables are controlled. Approximately 35% of US women in their reproductive years have daily vitamin C intake below 30 mg, and 68% have vitamin C intake below 88 mg. If other studies confirm these findings, it may be important to explore a possible protective role of supplementary vitamin C for women at high risk of cervical cancer.

  13. Ureaplasma urealyticum colonization, prematurity and bronchopulmonary dysplasia

    NARCIS (Netherlands)

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

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

  14. Bronchopulmonary dysplasia: incidence and risk factors.

    Science.gov (United States)

    Brener Dik, Pablo H; Niño Gualdron, Yeimy M; Galletti, María F; Cribioli, Carolina M; Mariani, Gonzalo L

    2017-10-01

    Bronchopulmonary dysplasia is the most common chronic pulmonary sequela among very low birth weight infants. The objective of this study was to estimate its incidence in our Neonatal Unit over the past 5 years and analyze associated risk factors. An observational and analytical study was conducted in a retrospective cohort, using data obtained from a prospective database of infants born at Hospital Italiano de Buenos Aires with a birth weight of less than 1500 grams between January 2010 and December 2014. The incidence of bronchopulmonary dysplasia and its association with several secondary outcome measures were studied. Two hundred and forty-five patients were included. The incidence of moderate/severe bronchopulmonary dysplasia was 22%, and it was associated with a younger gestational age and lower birth weight. A significant association was observed with surfactant use, mechanical ventilation requirement, and length of mechanical ventilation. Patients with moderate/severe bronchopulmonary dysplasia had a higher incidence of patent ductus arteriosus and late-onset sepsis. A lower birth weight (adjusted odds ratio |-#91;aOR|-#93;: 0.99, 95% confidence interval |-#91;CI|-#93;: 0.991-0.997, pdysplasia in our unit was associated with a lower birth weight and the length of mechanical ventilation. Among infants born at less than 32 weeks of gestation, intrauterine growth restriction accounted for an additional risk.

  15. Simplified Classification of Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-09-01

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

  16. Frontofacionasal dysplasia: another observation | Shawky | Egyptian ...

    African Journals Online (AJOL)

    ... deformed nostrils, hypoplastic nasal wing, cleft lip, cleft palate and meningeocele. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia and in our case is associated with facial heamangioma. To our knowledge, facial heamangioma in association with FFND have not been described before

  17. Novel treatment options for bronchopulmonary dysplasia

    NARCIS (Netherlands)

    Chen, X.

    2017-01-01

    Bronchopulmonary dysplasia is the most common complication when premature birth occurs at less than 28 weeks gestational age. The general aim of this thesis is to explore the therapeutic potential of interventions in signaling pathways, involved in lung development and oxidative

  18. Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome).

    Science.gov (United States)

    Skarzyński, Henryk; Porowski, Marek; Podskarbi-Fayette, Robert

    2009-07-01

    The oculoauriculovertebral dysplasia is a rare congenital malformation that is characterized by a hemifacial microsomia with ocular abnormalities and coexisting disorders in the spinal column and other organs. Characteristic features of the disease were first described by Maurice Goldenhar in 1952. A broad spectrum of hearing impairment is a result of complex malformations of the external ear, the middle ear and in some cases-the inner ear. The degree of hearing loss can range from mild to moderate conductive type in cases of chronic otitis media with effusion and severe to profound sensorineural hearing impairment with malformations of the inner ear in various forms of cochlear hypoplasia. This study focuses on surgical methods of hearing improvement in patients with the oculoauriculovertebral dysplasia (OAVD). We present 11 patients diagnosed with OAVD who are under supervision of the Institute of Physiology and Pathology of Hearing in Warsaw. It is, to our knowledge, one of the largest groups of patients reported by a single ORL medical center. The degree of hearing impairment was thoroughly described in all patients and individual treatment was introduced. The aim of this report was to present algorithm for diagnostics and treatment of symptoms of Goldenhar syndrome (GS) based upon methodology used in modern otosurgery.

  19. Distinct endoscopic characteristics of sessile serrated adenoma/polyp with and without dysplasia/carcinoma.

    Science.gov (United States)

    Murakami, Takashi; Sakamoto, Naoto; Ritsuno, Hideaki; Shibuya, Tomoyoshi; Osada, Taro; Mitomi, Hiroyuki; Yao, Takashi; Watanabe, Sumio

    2017-03-01

    Sessile serrated adenoma/polyp (SSA/P) is a colorectal polyp that has malignant potential. However, the dysplastic components within an SSA/P can be difficult to detect. This study aimed to clarify the endoscopic characteristics of SSA/P with advanced histology. We examined 462 endoscopically or surgically resected lesions that were pathologically diagnosed as SSA/P, including 414 without and 41 with cytologic dysplasia, and 7 with invasive carcinoma. We retrospectively studied the clinicopathologic and endoscopic characteristics and performed pit pattern analysis. A stepwise increase in the size of the SSA/P series was identified along with their dysplastic progression, although 19 of 48 (39.6%) SSA/Ps with dysplasia/carcinoma were ≤10 mm in size. Most lesions were covered with a mucus cap. Macroscopically, (semi)pedunculated morphology, double elevation, central depression, and reddishness were found more frequently in SSA/P with cytologic dysplasia and invasive carcinoma ([semi]pedunculated morphology, 17.1%/28.6%; double elevation, 63.4%/57.1%; central depression, 9.8%/28.6%; reddishness, 39.0%/85.7%) than in those without dysplasia (4.6%, 4.6%, 3.9%, and 3.4%, respectively). Furthermore, the presence of at least 1 of these 4 markers had high sensitivity (91.7%) for identifying the dysplasia/carcinoma within a SSA/P, with a specificity of 85.3%. In the pit pattern analysis, all SSA/Ps without dysplasia exhibited type II pit pattern only, whereas 94.4% of SSA/Ps with dysplasia/carcinoma showed type II in addition to type IIIL, IV, VI, or VN pit patterns. In an SSA/P series, endoscopic characteristics, including (semi)pedunculated morphology, double elevation, central depression, and reddishness, in addition to the use of magnifying endoscopy, may be useful to accurately diagnose advanced histology within an SSA/P. Copyright © 2017 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.

  20. [Bronchopulmonary dysplasia epidemic: incidence and associated factors in a cohort of premature infants in Bogotá, Colombia].

    Science.gov (United States)

    Ruiz-Peláez, Juan G; Charpak, Nathalie

    2014-01-01

    There is a perception that bronchopulmonary dysplasia incidence has increased in Bogotá since 2000. This study estimates its incidence, compares it with historical data and describes associated factors. We carried out a prospective analytical cohort of preterm newborns =34 weeks of gestational age without major malformations from 12 health facilities from Bogotá in 2004. The main outcomes were incidence and severity of bronchopulmonary dysplasia, which were compared with an historical cohort (1994-1999). Neonatal mortality was 80/496, and the bronchopulmonary dysplasia incidence was 54.3% (95% CI, 49.4-59.1). When controlling for type of institution (low and high mortality) it appeared that being born in an institution with low mortality decreased the risk for death (OR=0.308; 95% CI, 0.129-0.736) but increased the odds for moderate-severe bronchopulmonary dysplasia (OR=1.797; 95% CI, 1.046-3.088). The risk for bronchopulmonary dysplasia was higher than for the historical control cohort (RR=1.924; 95% CI, 1.686-2.196). Weight and gestational age at birth, mechanical ventilation, intrauterine growth restriction and type of institution (low vs. intermediate-high mortality) were independently associated with bronchopulmonary dysplasia of increasing severity or even death. The frequency of bronchopulmonary dysplasia in Bogotá has increased markedly, and this cannot be explained solely by better survival of more fragile infants. Survivors-irrespective from gestational age-- have more frequent and more severe respiratory sequels. Probably suboptimal aggressive respiratory care practices associated with a recent transition from restricted to almost universal access to mechanical ventilation in neonatal intensive care units in Bogota might be compromising the quality of neonatal respiratory care.

  1. Smoking is not associated with severe dysplasia or invasive carcinoma in resected intraductal papillary mucinous neoplasms.

    Science.gov (United States)

    Rezaee, Neda; Khalifian, Saami; Cameron, John L; Pawlik, Timothy M; Hruban, Ralph H; Fishman, Elliot K; Makary, Martin A; Lennon, Anne Marie; Wolfgang, Christopher L; Weiss, Matthew J

    2015-04-01

    Intraductal papillary mucinous neoplasms (IPMNs) of the pancreas are precursor lesions that progress to invasive cancer through progressively worsening dysplasia. Although smoking is an established risk factor for pancreatic adenocarcinoma, potential associations with IPMN grade of dysplasia remain unclear. Pancreatic resections for IPMN from 1995 to 2013 were retrospectively reviewed. A total of 446 patients in which the smoking status was documented were identified. Smoking history was positive in 47% of patients. Of smokers, 50% had branch-duct, 14% had main-duct, and 36% had mixed-type IPMN. Patients with main-duct IPMN were more commonly smokers (65%), compared to smoking history in 46% with mixed and 44% with branch-duct IPMN (p = 0.03). High-grade dysplasia occurred in 25% of smokers and 21% of nonsmokers (p = 0.32), and invasive carcinoma in 25% of smokers and 25% nonsmokers (p = 0.95). On multivariate analysis, duct size was independently associated with high-grade dysplasia (OR = 3.17, 95% CI = 1.79-5.64, p smoking history (OR = 1.10, 95% CI = 0.64-1.88, p = 0.73), were independent predictors of invasive carcinoma. Median overall survival was 70 months for smokers and 88 months for nonsmokers (p = 0.68). Positive smoking history correlated with duct type classification but does not appear to be a risk factor for harboring high-grade dysplasia or invasive carcinoma in IPMNs.

  2. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

    Directory of Open Access Journals (Sweden)

    Chaya Murali

    2014-01-01

    Full Text Available Congenital Disorder of Glycosylation type Ig (ALG12-CDG is part of a group of autosomal recessive conditions caused by deficiency of proteins involved in the assembly of dolichol-oligosaccharides used for protein N-glycosylation. In ALG12-CDG, the enzyme affected is encoded by the ALG12 gene. Affected individuals present clinically with neurodevelopmental delay, growth retardation, immune deficiency, male genital hypoplasia, and cardiomyopathy. A total of six individuals have been reported in the literature. Here, we present an infant with rhizomelic short stature, talipes equinovarus, platyspondyly, and joint dislocations. The infant had marked under-ossification of the pubic bones. Exome sequencing was performed and two deletions, each resulting in a frameshift, were found in ALG12. A review of the literature revealed two infants with ALG12-CDG and a severe skeletal dysplasia, including under-ossification of cervical vertebrae, pubic bones, and knees; in addition to talipes equinovarus and rhizomelic short stature. The phenotype of the individual we describe resembles pseudodiastrophic dysplasia and we discuss similarities and differences between ALG12-CDG and pseudodiastrophic dysplasia. The differential diagnosis in selected undiagnosed skeletal dysplasias should include CDGs.

  3. Management of developmental dysplasia of the hip in less than 24 months old children

    Directory of Open Access Journals (Sweden)

    Mehmet Bulut

    2013-01-01

    Full Text Available Background: There is no consensus on the treatment of developmental dysplasia of the hip in children less than 24 months of age. The aim of this study was to present the results of open reduction and concomitant primary soft-tissue intervention in patients with developmental dysplasia of the hip in children less than 24 months of age. Materials and Methods: Sixty hips of 50 patients (4 male, 46 female with mean age of 14.62 ± 5.88 (range 5-24 months months with a mean followup of 40.00 ± 6.22 (range 24-58 months months were included. Twenty five right and 35 left hips (10 bilaterally involved were operated. Open reduction was performed using the medial approach in patients aged < 20 months (with Tönnis type II-III and IV hip dysplasias and for those aged 20-24 months with Tönnis type II and III hip dysplasias ( n = 47. However for 13 patients aged 20-24 months with Tönnis type IV hip dysplasias, anterior bikini incision was used. Results: Mean acetabular index was 41.03 ± 3.78° (range 34°-50° in the preoperative period and 22.98 ± 3.01° (range 15°-32° at the final visits. Mean center-edge angle at the final visits was 22.85 ± 3.35° (18°-32°. Based on Severin radiological classification, 29 (48.3% were type I (very good, 25 (41.7% were type II (good and 6 (10% were type III (fair hips. According to the McKay clinical classification, postoperatively the hips were evaluated as excellent ( n = 42; 70%, good ( n = 14; 23.3% and fair ( n = 4; 6.7%. Reduction of all hip dislocations was achieved. Additional pelvic osteotomies were performed in 14 (23.3% hips for continued acetabular dysplasia and recurrent subluxation. (Salter [ n = 12]/Pemberton [ n = 2] osteotomy was performed. Avascular necrosis (AVN developed in 7 (11.7% hips. Conclusion: In DDH only soft-tissue procedures are not enough, because of the high rate of the secondary surgery and AVN for all cases aged less than 24 months. Bone procedures may be necessary in the walking

  4. p53 expression in patients with ulcerative colitis - associated with dysplasia and carcinoma: a systematic meta-analysis.

    Science.gov (United States)

    Lu, Xiaohong; Yu, Yuanjie; Tan, Shiyun

    2017-10-25

    Tumor suppressor gene p53 expression has been reported in patients with ulcerative colitis (UC). However, the correlation between p53 expression and UC remains controversial. The aim of this meta-analysis was to investigate the association between p53 expression and different pathological types of UC. Publications were searched in the PubMed, Embase, EBSCO, Wangfang, and CNKI databases. The overall odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs) were summarized in this study. Final 19 papers were identified in this meta-analysis, including 1068 patients with UC and 130 normal tissue samples. Immunohistochemical p53 expression was significantly higher in UC without dysplasia and carcinoma (UC group) compared to normal tissue samples (OR = 3.14, P = 0.001), higher in UC with dysplasia than in UC group (OR = 10.76, P p53 expression was correlated with UC in Asians, but not in Caucasians. When UC with dysplasia was compared to UC group, p53 expression was linked to UC with dysplasia among both Asians and Caucasians. When UC-CRC was compared to UC with dysplasia, p53 expression was not associated with UC-CRC in both Caucasians and Asians. p53 expression was closely associated with UC-CRC development. p53 expression showed different ethnic characteristics among different pathological types of UC.

  5. Histogenesis of retinal dysplasia in trisomy 13

    Directory of Open Access Journals (Sweden)

    Gonzalez-Fernandez Federico

    2007-12-01

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

  6. 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

  7. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

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

    2005-01-01

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

  8. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes.

    Science.gov (United States)

    Kaercher, T

    2004-06-01

    The ectodermal dysplasia syndromes are underestimated although precise inclusion criteria have been formulated. The purpose is to establish easily detectable ophthalmologic symptoms and signs as reliable criteria for ectodermal dysplasia syndromes. Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin-Goltz syndrome (1). Each patient was examined ophthalmologically. The principal outcome measures were ocular symptoms and signs in patients with different ectodermal dysplasia syndromes of varying severity. Some 94.4% of the patients suffered from dry eye symptoms. Reduction of eyebrows was seen in 94.4%; the lashes were altered in 91.6%. Changes of the meibomian glands were detected in 95.45%. Corneal changes such as pannus occurred later in life. Alterations of the meibomian glands, which were detected by meibomianoscopy, are the most reliable ocular sign of ectodermal dysplasia syndromes.

  9. Prosthodontic management of anhidrotic ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Shilpy Gupta

    2011-01-01

    Full Text Available Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. Patients with anhidrotic forms suffer from heat intolerance due to lack of sweat glands and mild infections may lead to death in infancy from hyperthermia. A case of a 4-year-old child with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral, and physical features were taken into consideration in diagnosis and treatment planning for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.

  10. 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.

  11. Cleidocranial Dysplasia: Report of a Case

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Seon Jin; Hong, Soon Ki [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Chosun University, Kwangju (Korea, Republic of)

    2000-09-15

    Cleidocranial dysplasia (previously known as cleidocranial dysostosis) is a well-known, rare and hereditary skeletal disorder characterized by a variety of dental abnormalities and as its name implies, striking involvement of the cranial vaults and clavicles. A 17-year-old female who presented with short stature and prolonged retention of deciduous teeth, subsequent delay in eruption of permanent teeth is described. She could touch her shoulders together at the midline anteriorly. Diagnostic procedures showed hypoplasia of the maxillary and zygomatic bones, open fontanelles and sutures, and aplasia of the clavicles. The paranasal sinuses were absent or underdeveloped. Characteristically, she had near parallel-sided borders in the ascending ramus of the mandible and abnormal-shaped, the slender pointed coronoid process. The zygomatic arches had a downward bend and discontinuity at the zygomaticotemporal suture area. Radiographic and clinical investigations of her cranial and skeletal abnormalities revealed features of cleidocranial dysplasia.

  12. 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.)

  13. Distinctive skeletal dysplasia in Cockayne syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    1986-03-01

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

  14. Epilepsy, Acquired Aphasia with Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    Girija A.S

    1999-01-01

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

  15. DNA content in human uterine cervical dysplasias.

    Science.gov (United States)

    Palan, P R; Romney, S L

    1979-01-01

    The DNA content of nuclei extracted from separate biopsies of normal cervical epithelium and from dysplastic sites in the same patient was determined biochemically. Mean percentage increase in the DNA content of dysplasias (mild: 143.3 +/- 14.9; moderate: 225.8 +/- 51.1; and severe: 359.8 +/- 45.8) was found to be statistically significant (F-Test: p less than 0.001) over the normal values in control cervical tissues.

  16. Osteochondral Allograft Transplantation for Femoral Trochlear Dysplasia

    Science.gov (United States)

    Vansadia, Dharmpal V.; Heltsley, James R.; Montgomery, Scott; Suri, Misty; Jones, Deryk G.

    2016-01-01

    Background: The risk factors for patellofemoral joint instability include laxity of medial patellar restraints, abnormal limb geometry, femoral and tibial malrotation, patella alta, and trochlear dysplasia. Femoral trochlear dysplasia is characterized by a hypoplastic or shallow trochlear groove. Case Report: We report the case of a 31-year-old female with trochlear dysplasia and recurrent patella dislocations, laxity of the medial patellofemoral ligament (MPFL), and high-grade chondromalacia of the trochlea and the patella. Surgical treatment goals were to re-create a trochlear groove, restore bony restraint, and realign and offload the patella. First, a triplane tibial tubercle osteotomy (TTO) was performed, and the patella was everted 360° with a subvastus approach. The MPFL was reconstructed using a gracilis allograft. A fresh osteochondral allograft transplant trochlea was sized, and a 35-mm diameter graft was transplanted to re-create the groove. The TTO was secured in a new anterior, medial, and distal position. The patient was braced for 6 weeks and completed a rehabilitation protocol. At 9-month follow-up, she had made significant gains in range of motion (0°-140°) and activity compared to her preoperative status. She reported no pain or recurrent dislocations. Conclusion: This case demonstrates a viable surgical option for treatment of instability resulting from trochlear dysplasia with patellofemoral chondromalacia. The osteochondral allograft transplantation surgery technique allows patients to have a stable, pain-free knee joint and participate in activities compared to nonoperative management. However, the long-term outcomes of this procedure are unknown. PMID:27999505

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

    OpenAIRE

    Reema Sharma Dhar; Amitava Bora

    2014-01-01

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

  18. Florid osseous dysplasia of the jaws

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Su Beom; Koh, Kwang Joon [Dept. of Oral Radiology, College of Dentistry, Chonbuk National University, Chonju (Korea, Republic of)

    1995-02-15

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

  19. 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.

  20. 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.

  1. 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.

  2. Animal models of bronchopulmonary dysplasia. The term mouse models

    National Research Council Canada - National Science Library

    Berger, Jessica; Bhandari, Vineet

    2014-01-01

    The etiology of bronchopulmonary dysplasia (BPD) is multifactorial, with genetics, ante- and postnatal sepsis, invasive mechanical ventilation, and exposure to hyperoxia being well described as contributing factors...

  3. Ectodermal dysplasia-skin fragility syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Subhash Kashyap

    2015-01-01

    Full Text Available Ectodermal dysplasia/skin fragility syndrome (ED-SFS is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1, which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Only 12 cases of this rare genodermatosis have been reported so far. We present an unusual case of ED-SFS in a 12-year boy who was normal at birth but subsequently developed skin fragility, hair and nail deformities, abnormal dentition, palmoplantar keratoderma, and abnormal sweating but no systemic abnormality.

  4. Surgical Treatment of Renal Fibromuscular Dysplasia in a Young Child

    Directory of Open Access Journals (Sweden)

    Arjan W. J. Hoksbergen

    2015-01-01

    Full Text Available During a routine checkup in a 10-year-old male with Attention-Deficit Hyperactivity Disorder, blood pressure of 180/120 mmHg was found. Physical examination was completely normal. Ultrasound examination showed poststenotic dilatation of the left renal artery which was confirmed by CT-angiography showing a short, high grade stenosis of the left renal artery. Percutaneous Transluminal Angioplasty of the stenosis was not successful and therefore the stenosis was excised with reimplantation of the renal artery in the aorta. Pathological examination of the excised segment showed media-type Fibromuscular Dysplasia (FMD. Six years after surgery, the kidney is completely normal regarding size and function. There are no signs of restenosis of the left renal artery. Nevertheless, the hypertension remained although less severe and requiring less medication.

  5. 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.

  6. Active MMP-2 Activity Discriminates Colonic Mucosa, Adenomas with and without High Grade Dysplasia and Cancers

    Science.gov (United States)

    Murnane, Mary Jo; Cai, Jinguo; Shuja, Sania; McAneny, David; Willett, John B.

    2010-01-01

    Pathologic assessment of colorectal adenomas, a complex task with significant inter-observer variability, typically defines the scheduling of surveillance colonoscopies following removal of adenomas. We have characterized the activity levels of pro- and active matrix metalloproteinase-2 and matrix metalloproteinase-9 in colorectal adenomas and carcinomas, as potential markers of pathologic progression during colorectal tumorigenesis. Endogenous fully activated matrix metalloproteinase-2, in particular, has been studied less frequently in adenomas due to difficulties in detection. For this report, tissues (n=119) from 51 individuals were extracted and assayed on gelatin zymograms with digital standardization to nanogram quantities of purified active controls. Resulting data were assessed by graphical and multinomial logit regression analyses to test whether matrix metalloproteinase-2 or matrix metalloproteinase-9 activities could discriminate among four different types of colorectal tissue (normal mucosa, adenomas with or without high grade dysplasia and invasive carcinomas). Active matrix metalloproteinase-2 successfully discriminated among these tissue categories. Median activity for active matrix metalloproteinase-2 increased in a stepwise fashion with pathologic progression from normal mucosa to adenoma without high grade dysplasia to adenoma with high grade dysplasia to cancer. Although pro-matrix metalloproteinase-2 and pro-matrix metalloproteinase-9 activities could discriminate to some extent among tissue categories, those effects did not contribute additional information. Active matrix metalloproteinase-2 activity correlated significantly with histopathologic assessment of colorectal tissues. The ability of active matrix metalloproteinase-2 to distinguish adenomas with high grade dysplasia from adenomas without high grade dysplasia may be particularly useful in predicting future colorectal cancer risk for an individual, thus optimizing scheduling of

  7. Automated classification of Pap smear images to detect cervical dysplasia.

    Science.gov (United States)

    Bora, Kangkana; Chowdhury, Manish; Mahanta, Lipi B; Kundu, Malay Kumar; Das, Anup Kumar

    2017-01-01

    The present study proposes an intelligent system for automatic categorization of Pap smear images to detect cervical dysplasia, which has been an open problem ongoing for last five decades. The classification technique is based on shape, texture and color features. It classifies the cervical dysplasia into two-level (normal and abnormal) and three-level (Negative for Intraepithelial Lesion or Malignancy, Low-grade Squamous Intraepithelial Lesion and High-grade Squamous Intraepithelial Lesion) classes reflecting the established Bethesda system of classification used for diagnosis of cancerous or precancerous lesion of cervix. The system is evaluated on two generated databases obtained from two diagnostic centers, one containing 1610 single cervical cells and the other 1320 complete smear level images. The main objective of this database generation is to categorize the images according to the Bethesda system of classification both of which require lots of training and expertise. The system is also trained and tested on the benchmark Herlev University database which is publicly available. In this contribution a new segmentation technique has also been proposed for extracting shape features. Ripplet Type I transform, Histogram first order statistics and Gray Level Co-occurrence Matrix have been used for color and texture features respectively. To improve classification results, ensemble method is used, which integrates the decision of three classifiers. Assessments are performed using 5 fold cross validation. Extended experiments reveal that the proposed system can successfully classify Pap smear images performing significantly better when compared with other existing methods. This type of automated cancer classifier will be of particular help in early detection of cancer. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  8. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

    National Research Council Canada - National Science Library

    Huber, Céline; Wu, Sulin; Kim, Ashley S; Sigaudy, Sabine; Sarukhanov, Anna; Serre, Valérie; Baujat, Genevieve; Le Quan Sang, Kim-Hanh; Rimoin, David L; Cohn, Daniel H; Munnich, Arnold; Krakow, Deborah; Cormier-Daire, Valérie

    2013-01-01

    Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous...

  9. Transgenic Expression of Human Lysophosphatidic Acid Receptor LPA2 in Mouse Intestinal Epithelial Cells Induces Intestinal Dysplasia.

    Directory of Open Access Journals (Sweden)

    Michihiro Yoshida

    Full Text Available Lysophosphatidic acid (LPA acts on LPA2 receptor to mediate multiple pathological effects that are associated with tumorigenesis. The absence of LPA2 attenuates tumor progression in rodent models of colorectal cancer, but whether overexpression of LPA2 alone can lead to malignant transformation in the intestinal tract has not been studied. In this study, we expressed human LPA2 in intestinal epithelial cells (IECs under control of the villin promoter. Less than 4% of F1-generation mice had germline transmission of transgenic (TG human LPA2; as such only 3 F1 mice out of 72 genotyped had TG expression. These TG mice appeared anemic with hematochezia and died shortly after birth. TG mice were smaller in size compared with the wild type mouse of the same age and sex. Morphological analysis showed that TG LPA2 colon had hyper-proliferation of IECs resulting in increased colonic crypt depth. Surprisingly, TG small intestine had villus blunting and decreased IEC proliferation and dysplasia. In both intestine and colon, TG expression of LPA2 compromised the terminal epithelial differentiation, consistent with epithelial dysplasia. Furthermore, we showed that epithelial dysplasia was observed in founder mouse intestine, correlating LPA2 overexpression with epithelial dysplasia. The current study demonstrates that overexpression of LPA2 alone can lead to intestinal dysplasia.

  10. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

    Science.gov (United States)

    Barat-Houari, Mouna; Dumont, Bruno; Fabre, Aurélie; Them, Frédéric TM; Alembik, Yves; Alessandri, Jean-Luc; Amiel, Jeanne; Audebert, Séverine; Baumann-Morel, Clarisse; Blanchet, Patricia; Bieth, Eric; Brechard, Marie; Busa, Tiffany; Calvas, Patrick; Capri, Yline; Cartault, François; Chassaing, Nicolas; Ciorca, Vidrica; Coubes, Christine; David, Albert; Delezoide, Anne-Lise; Dupin-Deguine, Delphine; El Chehadeh, Salima; Faivre, Laurence; Giuliano, Fabienne; Goldenberg, Alice; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Kaplan, Josseline; Lacombe, Didier; Lebrun, Marine; Marlin, Sandrine; Martin-Coignard, Dominique; Martinovic, Jelena; Masurel, Alice; Melki, Judith; Mozelle-Nivoix, Monique; Nguyen, Karine; Odent, Sylvie; Philip, Nicole; Pinson, Lucile; Plessis, Ghislaine; Quélin, Chloé; Shaeffer, Elise; Sigaudy, Sabine; Thauvin, Christel; Till, Marianne; Touraine, Renaud; Vigneron, Jacqueline; Baujat, Geneviève; Cormier-Daire, Valérie; Le Merrer, Martine; Geneviève, David; Touitou, Isabelle

    2016-01-01

    Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype–phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach. PMID:26626311

  11. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

    Science.gov (United States)

    Clayton, Peter; Fischer, Björn; Mann, Anuska; Mansour, Sahar; Rossier, Eva; Veen, Markus; Lang, Christine; Baasanjav, Sevjidmaa; Kieslich, Moritz; Brossuleit, Katja; Gravemann, Sophia; Schnipper, Nele; Karbasyian, Mohsen; Demuth, Ilja; Zwerger, Monika; Vaya, Amparo; Utermann, Gerd; Mundlos, Stefan; Stricker, Sigmar; Sperling, Karl; Hoffmann, Katrin

    2010-01-01

    The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacting with chromatin and lamins, and an enzymatic function as a sterol reductase. Heterozygous LBR mutations cause nuclear hyposegmentation in neutrophils (Pelger anomaly), while homozygous mutations cause prenatal death with skeletal defects and abnormal sterol metabolism (Greenberg dysplasia). It has remained unclear whether the lethality in Greenberg dysplasia is due to cholesterol defects or altered nuclear morphology.To answer this question we characterized two LBR missense mutations and showed that they cause Greenberg dysplasia. Both mutations affect residues that are evolutionary conserved among sterol reductases. In contrast to wildtype LBR, both mutations failed to rescue C14 sterol reductase deficient yeast, indicating an enzymatic defect. We found no Pelger anomaly in the carrier parent excluding marked effects on nuclear structure. We studied Lbr in mouse embryos and demonstrate expression in skin and the developing skeletal system consistent with sites of histological changes in Greenberg dysplasia. Unexpectedly we found in disease-relevant cell types not only nuclear but also cytoplasmatic LBR localization. The cytoplasmatic LBR staining co-localized with ER-markers and is thus consistent with the sites of endogeneous sterol synthesis. We conclude that LBR missense mutations can abolish sterol reductase activity, causing lethal Greenberg dysplasia but not Pelger anomaly. The findings separate the metabolic from the structural function and indicate that the sterol reductase activity is essential for human intrauterine development.

  12. Facial clefts and facial dysplasia: revisiting the classification.

    Science.gov (United States)

    Mazzola, Riccardo F; Mazzola, Isabella C

    2014-01-01

    Most craniofacial malformations are identified by their appearance. The majority of the classification systems are mainly clinical or anatomical, not related to the different levels of development of the malformation, and underlying pathology is usually not taken into consideration. In 1976, Tessier first emphasized the relationship between soft tissues and the underlying bone stating that "a fissure of the soft tissue corresponds, as a general rule, with a cleft of the bony structure". He introduced a cleft numbering system around the orbit from 0 to 14 depending on its relationship to the zero line (ie, the vertical midline cleft of the face). The classification, easy to understand, became widely accepted because the recording of the malformations was simple and communication between observers facilitated. It represented a great breakthrough in identifying craniofacial malformations, named clefts by him. In the present paper, the embryological-based classification of craniofacial malformations, proposed in 1983 and in 1990 by us, has been revisited. Its aim was to clarify some unanswered questions regarding apparently atypical or bizarre anomalies and to establish as much as possible the moment when this event occurred. In our opinion, this classification system may well integrate the one proposed by Tessier and tries at the same time to find a correlation between clinical observation and morphogenesis.Terminology is important. The overused term cleft should be reserved to true clefts only, developed from disturbances in the union of the embryonic facial processes, between the lateronasal and maxillary process (or oro-naso-ocular cleft); between the medionasal and maxillary process (or cleft of the lip); between the maxillary processes (or cleft of the palate); and between the maxillary and mandibular process (or macrostomia).For the other types of defects, derived from alteration of bone production centers, the word dysplasia should be used instead. Facial

  13. 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

    Twenty-one human immunodeficiency virus (HIV) seropositive patients were studied to determine the prevalence of cervical dysplasia, the distribution of human papilloma virus (HPV) subtypes, and the utility of cytologic diagnosis in this population. The patients ranged in age from 18 to 41 years...... abnormalities. In 14 patients there was sufficient tissue for HPV typing by in situ hybridization; the HPV subtypes identified were 6/11 (10 patients), 16/18 (9 patients), and 31/33/35 (9 patients). Dysplasia was present in 11/14 (79%) of the specimens submitted for subtyping. The absolute CD4 cell counts were...

  14. Skeletal dysplasia in perinatal lethal osteogenesis imperfecta. A complex disorder of endochondral and intramembranous ossification.

    Science.gov (United States)

    Marion, M J; Gannon, F H; Fallon, M D; Mennuti, M T; Lodato, R F; Kaplan, F S

    1993-08-01

    Osteogenesis imperfecta (OI) Type II is a rare heritable disorder of bone matrix that results in catastrophic congenital skeletal dysplasia. Two cases of OI Type II had symmetric rhizomelic skeletal dysplasia apparent on ultrasound at 16 and 20 weeks' gestation. Histologic and histochemical studies performed on skeletal tissue from fetal autopsies showed the following: (1) abnormal growth plate tissue characterized by failure of formation of primary bony spongiosa; (2) persistence of calcified cartilage bars in the diaphysis; (3) metaphyseal microfractures; (4) abundant cartilaginous fracture callus; (5) absence of bony callus; (6) failure of formation of intramembranous cortical diaphyseal bone; (7) angulation of long bones in portions of the metadiaphyses bordered by fracture callus; and (8) mechanical failure of the perichondral ring of LaCroix with a normal fibrous ossification groove of Ranvier. These findings suggest that skeletal dysplasia in OI Type II results from the action of muscular forces on a skeleton weakened by a complex disorder of endochondral and intramembranous ossification. The paucity of primary metaphyseal trabeculae and subperiosteal cortical bone leads to pathologic fractures of the immature fiber bone and an imperfect attempt at fracture repair. Angulation and shortening of long bones occurs between numerous sites of focal endochondral fracture callus. Mechanical failure of the fibrous perichondral ring leads to further collapse and shortening without obvious functional impairment of the fibrous ossification groove. Perinatal lethal OI provides insight into how a molecular disorder predominantly of Type I collagen metabolism results in pathology of numerous tissues, leading to severe skeletal dysplasia without primarily affecting chondrogenesis.

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

    Science.gov (United States)

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

    1992-01-01

    A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia. Images PMID:1453438

  16. 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.

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

    African Journals Online (AJOL)

    Results: Seven hundred and forty (740) women were screened for cervical cancer between March and August 2008 and 536 results were retrieved, giving a retrieval rate of 72.43%. Fifty-seven women had cervical dysplasia giving a prevalence rate of 10.63%. Of the 57 women with cervical dysplasia, 21 (36.8%) had a low ...

  18. Reproducibility of grading systems in oral epithelial dysplasia

    Science.gov (United States)

    Shetty, Devi-Charan

    2012-01-01

    Objective: To assess inter and intra observer variability in grading oral epithelial dysplasia (OED) using Smith and Pindborg grading system, WHO classification system and Brothwell DJ et al. classification system. Study design: In the study 45 histological tissues of dysplasia, 15 each of mild, moderate and severe dysplasia were coded and blindly graded by three observers in three grading systems. Further on the same observers graded 15 slides again of the previous 45 for analyzing the reproducibility in the three grading systems. The individual significance of various indicators of dysplasia among various grades of dysplasia was also assessed. Result: Inter observer agreement was significantly higher in Brothwell system as compared to WHO and Smith and Pindborg system. Intra observer agreement was significantly higher in Smith and Pindborg system, but the predictability and the probability index was distributed over a larger range in this system. Each indicator of dysplasia was also found to be statistically significant (P<0.05) for grading dysplasia. Conclusion: The present study puts forth the inherent intricacies in the grading of oral premalignant lesions. Key words:Carcinoma, dysplasia, grading systems, reproducibility. PMID:22549675

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

    DEFF Research Database (Denmark)

    Junge, Jette; Poulsen, H; Horn, T

    1995-01-01

    Surgical specimens from 62 patients with vulvar dysplasia and carcinoma in situ were morphologically investigated. Lesions were classified according to WHO (mild, moderate, severe dysplasia and carcinoma in situ) and according to Toki et al. (1991) (warty, basaloid, combined warty/basaloid or bas...

  20. 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...

  1. A new syndrome of multiple joint dislocations with metaphyseal dysplasia.

    Science.gov (United States)

    Phaoke, S R; Sharma, A K; Agarawal, S S

    1993-07-01

    A 15-day-old female child is presented with multiple joint dislocations who died during the neonatal period. She had additional features of metaphyseal dysplasia, deficient calcification of vault of the skull, growth retardation, a natal tooth, lymphoedema and facial dysmorphism. This may constitute a new syndrome of multiple joint dislocations with metaphyseal dysplasia.

  2. Cleidocranial dysplasia: Report of 4 cases and review

    Directory of Open Access Journals (Sweden)

    Virender Gombra

    2008-01-01

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

  3. Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia.

    Science.gov (United States)

    Rakowska, Adriana; Górska, Renata; Rudnicka, Lidia; Zadurska, Małgorzata

    2015-07-01

    Hair abnormalities in ectodermal dysplasia may be difficult to identify. Among 16 patients with ectodermal dysplasia trichoscopy (hair dermoscopy) revealed predominance of pilosebaceous units with 1 hair (69%), abnormalities of hair shaft pigmentation (gray hair with single dark hairs, 56%), pili torti, trichothiodystrophy, trichorrhexis nodosa, and rarely, cicatricial alopecia. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. FLORID CEMENTO-OSSEOUS DYSPLASIA: A REPORT OF TWO ...

    African Journals Online (AJOL)

    masses in the oral cavity.5 This may occur as the result of progressive alveolar atrophy under a denture or after extraction ... osseous dysplasia after radiological examination by ortho- panthomogram. Diagnosis of florid cemento-osseous dysplasia is possible by clinical examination and the distinct radiological presentation, ...

  5. Cervical Dysplasia In Hiv Seropositive Women In Nigeria | Tanko ...

    African Journals Online (AJOL)

    ... times higher in HIV- infected women than HIV- negative women in Jos. Socioeconomic factors such as poverty and social insecurity are risk factors for HIV infection as well are predictors of cervical dysplasia. Keywords: HIV infection, cervix, dysplasia, Nigeria Highland Medical Research Journal Vol. 4 (2) 2006 pp. 21-26 ...

  6. Polyostotic fibrous dysplasia with secondary aneurysmal bone cyst in tibia

    Directory of Open Access Journals (Sweden)

    Vandana L Gaopande

    2015-01-01

    Full Text Available Fibrous dysplasia is a benign tumor-like lesion of bone believed to be developmental in origin. Polyostotic fibrous dysplasia (FD is a rare condition. Our case was further complicated by the presence of secondary aneurysmal bone cyst (ABC. This is the second reported case of polyostotic FD with secondary ABC.

  7. Radiographic diagnosis of a rare case of oculodentodigital dysplasia

    African Journals Online (AJOL)

    Oculodentodigital dysplasia (ODDD), also known as oculodentoosseous dysplasia, is an extremely rare autosomal dominant disorder with high penetrance, intra- and interfamilial phenotypic variability, and advanced paternal age in sporadic cases. The incidence of this disease is not precisely known, with only 243 cases ...

  8. Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.

    Science.gov (United States)

    Gertner, J M; Whyte, M P; Dixon, P H; Pang, J T; Trump, D; Pearce, S H; Wooding, C; Thakker, R V

    1997-08-01

    A four-generation kindred (14 affected and 10 unaffected members) from Missouri, U.S.A. in which spondyloepimetaphyseal dysplasia (SEMD) had been inherited as an autosomal dominant disorder was investigated for linkage to 13 candidate loci: COL2AI, COL9AI, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, PSACH, FGFR3, decorin, CRTL1, COMP, and PTHRP. Mutations of COL2A1, COL9A2, COL10, and FGFR3 have been reported previously in the Strudwick type of SEMD, multiple epiphyseal dysplasia type 2 (EDM2), the Schmid type of metaphyseal dysplasia, and in achondroplasia, respectively, and the pseudoachondroplasia (PSACH) locus has been mapped to chromosome 19p12. In addition, mutations in COL9 and COL11A are associated with murine forms of degenerative joint disease and chondroplasia, respectively. The family proved informative for 12 of the 13 loci and was uninformative at the decorin locus. Linkage between this form of SEMD, designated the Missouri variant, SEMDMO, and the 12 informative candidate loci was excluded (LOD scores < -2.00 at theta = 0.005 to 0.15), thereby indicating further genetic heterogeneity in these inherited disorders of bone and cartilage development.

  9. Florid cemento-osseous dysplasia (FCOD: case report

    Directory of Open Access Journals (Sweden)

    Tai-Min Lin

    2010-12-01

    Full Text Available Florid cemento-osseous dysplasia (FCOD is a type of fibro-osseous lesion and represents a reactive process in which normal bone is replaced by poorly cellularized cementum-like materials and cellular fibrous connective tissues. It is strictly localized to the tooth-bearing or edentulous areas, often occurring bilaterally with symmetric involvements. In this case report, a mixed radiolucent and radiopaque lesion at the periapical area of the right mandibular second molar of a 46-year-old female patient was misdiagnosed as chronic apical periodontitis initially by clinical manifestation and radiographic finding on a periapical radiograph. The tooth #47 was a distal abutment tooth of a three-unit bridge from teeth #45–#47. No decay of teeth #45 and #47 was found when the bridge was removed. Electric pulp test revealed that the tooth #47 was a vital-pulp tooth. Panoramic radiography showed a similar mixed radiolucent and radiopaque lesion at the edentulous area of tooth #37. The symmetric distribution of the two lesions with no alveolar bone expansion and the positive vitality test of the involved tooth supported the diagnosis of FCOD for this case. No endodontic treatment or surgical biopsy was performed. The patient was instructed to undergo regular clinical and radiographic follow-up to monitor the change of the lesion. We suggest that when a radiolucent or mixed lesion occurs at the periapical area of a vital-pulp tooth, panoramic radiography may help differentiate an inflammatory periapical lesion from a lesion of cemento-osseous dysplasia (COD.

  10. Connective tissue dysplasia in patients with mitral valve prolapse

    Directory of Open Access Journals (Sweden)

    Kuznetsova M.A.

    2013-12-01

    Full Text Available Recently displasia of connective tissue is much spoken and written about. As a rule, these are scientific articles and reviews in which difficult terms prevail and doctors don't read them up to the end. And the problem, meanwhile, exists, and problem is very interesting. It is known that connective tissue consists of cells, fibers and intercellular substance. It is well known that it may be dense and loose and is widespread throughout the organism – skin, bones, cartilagle, vessels wall, stroma of bodies and even blood – at the basis of every element is connective tissue. The structure of connective tissue is well studied, and all biochemical structures are identified. Successes of molecular genetics allowed to define types, structure and localization of the genes which are responsible for synthesis of various elements. First of all we are interested in fibers of connective tissue – collagen with main function to maintain form, and the elastin, providing ability to reduction and relaxation. Dysplasia of connective tissue – the process genetically determined, i.e. at the basis of everything is mutations of the genes which are responsible for synthesis of fibers. Mutations may be the most various and in the most different genes. As a result of mutations collagen chains are formed incorrectly. Thus, they are shorter (deletion, or longer (insertion, they join not that amino acid (a dot mutation. So-called abnormal trimers of collagen appear, they don't maintain due mechanical loadings. The same is with elastin. The clinical picture will be defined by quantity and quality of mutations. Unfortunately, not only specific appearance and cosmetic defects belong to manifestations of dysplasia of connective tissue, but also heavy pathological changes of internal organs and the musculoskeletal apparatus.

  11. 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...... 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...

  12. Impact of Nutrition on Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Poindexter, Brenda B; Martin, Camilia R

    2015-12-01

    Bronchopulmonary dysplasia (BPD) remains a common morbidity of prematurity. Although the pathogenesis of BPD is recognized to be both multifactorial and complex, the role of nutrition in the pathophysiology of BPD is typically limited to management after a diagnosis has been made. Infants born small for gestational age and those who experience postnatal growth failure are more likely to have BPD. Therapies for lung disease, such as fluid restriction, diuretics, and corticosteroids, can negatively impact postnatal growth. Future research is needed to optimize nutritional strategies in the neonatal intensive care unit and following hospital discharge. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Airway Disease and Management in Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Amin, Raouf S; Rutter, Michael J

    2015-12-01

    This article presents an overview of the diagnosis and management of airway problems encountered in infants with severe bronchopulmonary dysplasia (BPD). Respiratory failure in premature infants develops as a result of parenchymal and airway diseases. The survival of increasingly premature infants and the ventilatory support required by premature lungs may result in airway disease. The management of respiratory failure depends on whether it is primarily caused by parenchymal versus airway diseases. Continuous airway pressure early in the neonatal period has favorably changed the incidence of BPD. This article discusses the indications, timing, and guidelines for care of tracheotomy. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. Hereditary mucoepithelial dysplasia and severe respiratory distress

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    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.

  15. The effect of breeding schemes on the genetic response of canine hip dysplasia, elbow dysplasia, appearance and behaviour traits

    NARCIS (Netherlands)

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

    2005-01-01

    Current dog breeding programmes must be changed if genetic improvement in health and behaviour traits is to be achieved. A computer simulation programme was used to assess the possible genetic improvement in hip dysplasia (HD), elbow dysplasia (ED) and behaviour (BE) traits in a dog population

  16. [Optical diagnosis of cervical dysplasia].

    Science.gov (United States)

    Charvet, Igor; Meda, Paolo; Genet, Magalie; Pelte, Marie-Françoise; Vlastos, Anne-Thérèse

    2004-01-01

    Cervix cancer is a curable disease when diagnosed at an early stage. Screening of cervical lesions by cytology and colposcopy with in situ staining has allowed for substantial progress in early diagnosis and consequently the cure of cervix cancer. Nevertheless, because of its low specificity, this approach generally implies repetitive tissue sampling and, thus a relative long time before the treatment of the lesions. Furthermore, the cost of preparation and analysis of biopsy samples is sufficiently high to represent a burden for industrialized countries and a virtual impossibility for the developing world. To overcome these problems, various biophotonic methods using optical fibers have been developed to allow for detection of cervical epithelial anomalies in a specific, fast and non-invasive way. This process, known as "optical biopsy", is based on the measurement of light-tissue interactions, which are analysed by various mathematical and data processing methods, to provide information on the metabolism and morphology of epithelial tissue. Currently investigated methods can be distinguished according to the type of signal used to probe the tissue (fluorescence, reflectance), the depth of analysed tissue (surface analysis, confocal imaging, tomography), the analysis modalities (spectral measurements or imaging), and the use of additive molecules (contrasting or photosensitizing agents, inorganic fluorophores). While most of the methods remain experimental, constant progress in the understanding of the mechanisms of light behavior in biological environments as well as advances in optical fibers technology, will make a number of these methods soon available for clinical practice to contribute efficiently to the reduction of biopsy number and cost of cervical screening. Copyright John Libbey Eurotext 2003.

  17. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    DEFF Research Database (Denmark)

    Terhal, Paulien A; Nievelstein, Rutger Jan A J; Verver, Eva J J

    2015-01-01

    Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genoty...

  18. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    NARCIS (Netherlands)

    Terhal, P.A.; Nievelstein, R.J.A.J.; Verver, E.J.J.; Topsakal, V.; Dommelen, P. van; Hoornaert, K.; Merrer, M. le; Zankl, A.; Simon, M.E.; Smithson, S.F.; Marcelis, C.; Kerr, B.; Clayton-Smith, J.; Kinning, E.; Mansour, S.; Elmslie, F.; Goodwin, L.; Hout, A.H. van der; Veenstra-Knol, H.E.; Herkert, J.C.; Lund, A.M.; Hennekam, R.C.; Mégarbané, A.; Lees, M.M.; Wilson, L.C.; Male, A.; Hurst, J.; Alanay, Y.; Annerén, G.; Betz, R.C.; Bongers, E.M.; Cormier-Daire, V.; Dieux, A.; David, A.; Elting, M.W.; Ende, J. van den; Green, A.; Hagen, J.M. van; Hertel, N.T.; Holder-Espinasse, M.; Hollander, N. den; Homfray, T.; Hove, H.D.; Price S; Raas-Rothschild, A.; Rohrbach, M.; Schroeter, B.; Suri, M.; Thompson, E.M.; Tobias, E.S.; Toutain, A.; Vreeburg, M.; Wakeling, E.; Knoers, N.V.; Coucke, P.; Mortier, G.R.

    2015-01-01

    Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic

  19. Spatial predisposition of dysplasia in Barrett's esophagus segments: a pooled analysis of the SURF and AIM dysplasia trials.

    Science.gov (United States)

    Cotton, Cary C; Duits, Lucas C; Wolf, W Asher; Peery, Anne F; Dellon, Evan S; Bergman, Jacques J; Shaheen, Nicholas J

    2015-10-01

    Surveillance endoscopy detects dysplasia within Barrett's esophagus (BE) and dictates treatment. Current biopsy regimens recommend uniformly spaced random biopsies. We assessed the distribution of dysplasia in BE to develop evidence-based biopsy regimens. We performed analysis of the distribution of dysplasia within BE using pretreatment biopsy data from two randomized controlled trials (RCTs) of radiofrequency ablation for dysplastic BE: the SURF (Surveillance vs. Radiofrequency Ablation) trial and the AIM Dysplasia (Ablation of Intestinal Metaplasia (AIM) Containing Dysplasia) trial. We used generalized linear models with generalized estimating equations (GEE) to estimate prevalence differences for dysplasia depending on the standardized location of biopsies. We performed Monte Carlo simulation of biopsy regimens to estimate their yield for any dysplasia within segments. Dysplasia preferentially resides in the proximal-most half of the BE segment that is almost twice as likely to demonstrate dysplasia as the distal-most quartile. In pooled analysis, compared with the distal-most quarter, the prevalence difference in the proximal-most quarter was 22.6%, in the second proximal-most quarter 23.1%, and in the second distal-most quarter 15.3%. The best performing biopsy regimen in simulation studies acquired 8 biopsies in the most proximal cm of BE, 8 biopsies in the second cm, and 2 biopsies in each cm thereafter (q1cm: 8, 8, 2, 2…). A slightly simpler q2cm (every 2 cm) regimen (q2cm: 12, 12, 4…) was nearly as effective. The post hoc analysis of two RCTs reveals a substantially increased prevalence of dysplasia proximally in BE segments. Our simulations suggest an altered biopsy regimen could increase sensitivity of biopsies in short-segment BE by >30%.

  20. Tapetal dysplasia in a Swedish Vallhund dog.

    Science.gov (United States)

    Scott, Erin M; Teixeira, Leandro B C; Dubielzig, Richard R; Komáromy, András M

    2013-07-01

    To describe the gross, histopathological, and ultrastructural findings in a dog with bilateral tapetal dysplasia. The globes of a 15-year-old neutered male Swedish Vallhund dog with a ventrally displaced tapetum in both eyes were fixed in 10% formalin and submitted to the Comparative Ocular Pathology Laboratory of Wisconsin for histological evaluation. Sections were stained with hematoxylin and eosin, Masson's trichrome, and Melan-A immunohistochemistry (IHC), and tissues were subsequently processed for transmission electron microscopy. Bilateral fundic and gross examination revealed a tapetal fundus inferior to the optic nerve head (ONH) and a nontapetal fundus with mild scattering of tapetal tissue superior to the ONH. Histologically, there was decreased pigmentation of the retinal pigment epithelium with only a few melanin granules in the peripheral retina. The affected tapetum was relatively acellular and fibrous with occasional tapetal cells scattered throughout the inner choroid or displaced into the vascular outer choroid. Special stains revealed that the tapetum was mostly composed of collagen (Masson's trichrome) and failed to express Melan-A (IHC) unlike a normal canine control tapetum. Ultrastructurally, the tapetum was markedly dysplastic both superior and inferior to the ONH with no uniformly arranged tapetal cells. The few cells identified within the tapetum contained irregularly arranged and disorganized electron-dense structures within their cytoplasm, which were interpreted as dysplastic tapetal rodlets. Based on microscopic and ultrastructural findings, this is the first report of tapetal dysplasia in a dog. © 2013 American College of Veterinary Ophthalmologists.

  1. 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.

  2. 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.

  3. 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.

  4. Persistent genital human papillomavirus infection as a risk factor for persistent cervical dysplasia.

    Science.gov (United States)

    Ho, G Y; Burk, R D; Klein, S; Kadish, A S; Chang, C J; Palan, P; Basu, J; Tachezy, R; Lewis, R; Romney, S

    1995-09-20

    Cervical dysplasia, also referred to as squamous intraepithelial lesion (SIL) in cytology or cervical intraepithelial neoplasia in histopathology, is thought to have the potential to advance in progressive stages to cervical cancer. However, not all cases of SIL progress, and most of the mild lesions spontaneously regress. Factors that govern regression, persistence, and progression of SIL are poorly understood. Our analysis sought to identify factors that determined persistence or regression of SIL. Seventy subjects with histopathologically confirmed cervical dysplasia were followed at 3-month intervals for 15 months. At each visit, the cervix was evaluated by Pap smear and colposcopy, and exfoliated cervicovaginal cells were analyzed for human papillomavirus (HPV) DNA. For each subject, data from every two consecutive visits were grouped as a pair. Persistent SIL was considered present if a lesion was detected at a visit (t) as well as at the next visit (t + 1) and absent if a lesion was detected at visit t but not at visit t + 1. A statistical model for time-dependent data correlated persistent SIL with various risk factors. Age, ethnicity, education, sexual behavior, smoking, and the use of oral contraceptives did not correlate with persistent SIL. The risk of persistent SIL was associated with continual HPV infection in visits t and t + 1 (HPV positive by Southern blot analysis: odds ratio [OR] = 3.91, and 95% confidence interval [CI] = 1.58-9.65; HPV positive by polymerase chain reaction [PCR]: OR = 2.42, and 95% CI = 1.03-5.67) and a persistent high viral load (OR = 4.07, and 95% CI = 1.35-12.30). When typed by PCR, individuals with type-specific persistent infection in visits t and t + 1, and particularly those with a continual high viral load (OR = 4.97; 95% CI = 1.45-17.02), had the highest risk for persistent SIL compared with those with a low level of type-specific persistent infection or non-type-specific persistent infection. The presence of

  5. Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

    Science.gov (United States)

    Gerber, Sylvie; Hanein, Sylvain; Perrault, Isabelle; Delphin, Nathalie; Aboussair, Nisrine; Leowski, Corinne; Dufier, Jean-Louis; Roche, Olivier; Munnich, Arnold; Kaplan, Josseline; Rozet, Jean-Michel

    2007-12-01

    Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca. 43% of families and are responsible for a congenital severe stationary cone-rod dystrophy (Type I, 60% of LCA) while the seven remaining genes account for 32% of patients and are responsible for a progressive yet severe rod-cone dystrophy (Type II, 40% of LCA ). Recently, mutations in LCA5, encoding the ciliary protein lebercilin, were reported to be a rare cause of leber congenital amaurosis. The purpose of this study was to evaluate the involvement of this novel gene and to look for genotype-phenotype correlations. Here we report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in our series (3/179; 1.7%). Besides, we suggest that the phenotype of these patients affected with a particularly severe form of LCA type II may represent a continuum with LCA type I. (c) 2007 Wiley-Liss, Inc.

  6. 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.

  7. [Analysis of development of hip joint dysplasia in dogs].

    Science.gov (United States)

    Ledecký, V; Sevcík, A; Capík, I; Trbolová, A

    1997-01-01

    Hip joint dysplasia in dogs occurs mainly in large and heavy breeds. It brings about changes on the acetabulum (socket) and the head of thigh bone, thus causing pain, tiredness, refusal to jump and refusal of increased activity. Even though presently the genetic basis of development of this disease, numerous literary sources indicate existence of pre-disposing factors that facilitate development in later stages of life. Diet and unbalanced development of skeleton and support tissues-ligaments, joint capsule and musculature also have the effect on development of dysplasia. We have analyzed acquired results of X-ray examination of dogs-German shepherds. The size of the group was 4 206 and the examination was aimed at incidence of hip-joint dysplasia during the period of 1977-1995 in the Slovak Republic. We have found out that in 1977 there were 70.7% positive cases out of the total number of examined individuals. Gradual exclusion of dogs with heavier grades of dysplasia (D, E) decreased occurrence of dysplasia to current rate of 40.8%. We considered it to be a high incidence rate. Internal structure of the positive group has changed. The number of dogs with the lightest grade of dysplasia (B) has increased, while the number of heavier grade dysplasia (C, D, E) decreased. In other breeds of dogs, of which more than 20 have been examined at the clinic, the following results have been acquired: Slovak chuvash-32%, Bavarian and Hannover bloodhound-30.6%, Rotweiler-28.6%, Newfoundland dog-26.3%, Bern sheep-dog-13.6%. At the same time we analyze the incidence of dysplasia in dogs whose parents were negative. Group of descendants of 11 negative males and 28 females consisted of 73 dogs. Through x-ray examination, 42.5% of dogs were found to have dysplasia B, C and D at the age of 1 year.

  8. Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia.

    Science.gov (United States)

    Uchihara, Toshiki; Ohashi, Ken-ichi; Kitagawa, Masanobu; Kurata, Morito; Nakamura, Ayako; Hirokawa, Katsuiku; Kasuga, Tsutomu; Kobayashi, Takayoshi

    2010-01-01

    Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G243R mutations in the lysosomal sialidase gene and biochemically defined isolated sialidase deficiency, who died of intractable lymphoma at the age of 32 years, are described. Perikaryal expansion of cytoplasm was evident, mostly in motor neurons (in the anterior horn and the brain stem), dorsal root ganglia, cerebellar dentate neurons and some neurons in the thalamus and nucleus basalis of Meynert. The stored material was lamellar in lysosomes and exhibited a specific affinity to wheat germ agglutinin at light and electron microscopy, which indicates the accumulation of terminal sialic acid at the non-reducing end of the sugar chain in this pathological structure. Neuronal loss in these nuclei, however, was not frequent in spite of frequent and massive cytoplasmic expansion. Neocortex exhibited a mild spongiosis with some swelling of neurons, which contained lipofuscin-like granules and small amount of lamellar structures in lysosomes. This contrast suggests a discrepancy between the storage process and vulnerability of neurons, both variable according to areas examined. In the cerebellar vermis, dysplastic features, such as abnormal layering of Purkinje cells, thinning and rarefaction of the granule cell layer, incomplete formation of synapse and disordered proliferation of Bergmann's glia, were focally accentuated, suggesting some developmental abnormality not secondary to the storage process. This is the first autopsy demonstration of sialic acid in the lamellar materials and of a developmental abnormality in isolated sialidase deficiency. Additional studies are needed to clarify how this molecular abnormality leads to these morphological and clinical manifestations.

  9. Triple pelvic osteotomy in the treatment of hip dysplasia

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2009-01-01

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

  10. Geleophysic dysplasia associated with bilateral angle closure glaucoma

    Directory of Open Access Journals (Sweden)

    Murat Sinan Saricaoglu

    2013-01-01

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

  11. [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.

  12. 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.

  13. 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.

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

    Directory of Open Access Journals (Sweden)

    Mary Mathew

    2012-01-01

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

  15. 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

  16. [Diagnostic problems in gastric dysplasias: value of cytology (author's transl)].

    Science.gov (United States)

    Simatos, A; Zagury, D; Zeitoun, P; Galet, M J; Pluot, M

    Gastric smears have been performed on 835 patients, among which examinations 771 (92 percent) were available. Histology assumed in parallel showed a dysplasia lesion in 56 cases: 14 of the 601 negative smears (2.3 percent), in 33 of the 40 suspect smears (82 percent), and in 9 of the 130 cases of positive smears (7 percent). Gastric dysplasia evidence both by cytology and pathology show mostly differenciated cells, alterations of which reflect the lesion level. By contrast, cytology and histology diagnosis are not in agreement when dysplasia concern dedifferenciated cells with a severe degree of alterations which can be misinterpreted as malignant cells.

  17. Neuronal intestinal dysplasia in an infant: case report

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Se Kyong; Kim, Jong Chul; Yoon, Chung Dae; Sul, Ji Young; Song, Kyu Sang [Chungnam National University Hospital, Daejeon (Korea, Republic of)

    2006-09-15

    Neuronal intestinal dysplasia in pediatric patients has similar clinical symptoms and often similar radiologic findings to those of Hirschsprung's disease. Yet neuronal intestinal dysplasia shows hyperplasia of the myenteric plexus for the pathology, and it requires different treatment compared with Hirschsprung disease. This disease had been reported many times in Europe but, to date, only one case has been reported in the radiologic literatures in Korea. We report here on a case of neuronal intestinal dysplasia that involved the entire colon in a two-month-old boy, and we include the radiographic findings.

  18. 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.

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

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

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

  20. 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

  1. Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced.

    Science.gov (United States)

    Te Riele, Anneline S J M; James, Cynthia A; Philips, Binu; Rastegar, Neda; Bhonsale, Aditya; Groeneweg, Judith A; Murray, Brittney; Tichnell, Crystal; Judge, Daniel P; Van Der Heijden, Jeroen F; Cramer, Maarten J M; Velthuis, Birgitta K; Bluemke, David A; Zimmerman, Stefan L; Kamel, Ihab R; Hauer, Richard N W; Calkins, Hugh; Tandri, Harikrishna

    2013-12-01

    The traditional description of the Triangle of Dysplasia in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) predates genetic testing and excludes biventricular phenotypes. We analyzed Cardiac Magnetic Resonance (CMR) studies of 74 mutation-positive ARVD/C patients for regional abnormalities on a 5-segment RV and 17-segment LV model. The location of electroanatomic endo- and epicardial scar and site of successful VT ablation was recorded in 11 ARVD/C subjects. Among 54/74 (73%) subjects with abnormal CMR, the RV was abnormal in almost all (96%), and 52% had biventricular involvement. Isolated LV abnormalities were uncommon (4%). Dyskinetic basal inferior wall (94%) was the most prevalent RV abnormality, followed by basal anterior wall (87%) dyskinesis. Subepicardial fat infiltration in the posterolateral LV (80%) was the most frequent LV abnormality. Similar to CMR data, voltage maps revealed scar (disease involving the basal inferior and anterior RV, and the posterolateral LV. The RV apex is only involved in advanced ARVD/C, typically as a part of global RV involvement. These results displace the RV apex from the Triangle of Dysplasia, and provide insights into the pathophysiology of ARVD/C. © 2013 Wiley Periodicals, Inc.

  2. Spatial Predisposition of Dysplasia in Barrett's Esophagus Segments: A Pooled Analysis of The SURF and AIM – Dysplasia Trials

    Science.gov (United States)

    Cotton, Cary C; Duits, Lucas C; Wolf, W Asher; Peery, Anne F; Dellon, Evan S.; Bergman, Jacques J.; Shaheen, Nicholas J

    2016-01-01

    Introduction Surveillance endoscopy detects dysplasia within Barrett's esophagus (BE) and dictates treatment. Current biopsy regimens recommend uniformly-spaced random biopsies. We assessed the distribution of dysplasia in BE to develop evidence-based biopsy regimens. Methods We performed analysis of the distribution of dysplasia within BE, using pre-treatment biopsy data from two randomized controlled trials (RCT) of radiofrequency ablation (RFA) for dysplastic BE: the SURF Trial and the AIM Dysplasia Trial. We used generalized linear models with generalized estimating equations to estimate prevalence differences for dysplasia depending on the standardized location of biopsies. We performed Monte Carlo simulation of biopsy regimens to estimate their yield for any dysplasia within segments. Results Dysplasia preferentially resides in the proximal-most half of the BE segment, which is almost twice as likely to demonstrate dysplasia as the distal-most quartile. In pooled analysis, compared to the distal-most quarter, the prevalence difference in the proximal-most quarter was 22.6%, in the second proximal-most quarter 23.1%, and in the second distal-most quarter 15.3%. The best performing biopsy regimen in simulation studies acquired 8 biopsies in the most proximal centimeter of BE, 8 biopsies in the second cm, and 2 biopsies in each cm thereafter q1cm - (8, 8, 2, 2…). A slightly simpler q2cm regimen q2cm - (12, 12, 4…) was nearly as effective. Conclusion Post-hoc analysis of two RCTs reveals a substantially increased prevalence of dysplasia proximally in BE segments. Our simulations suggest an altered biopsy regimen could increase sensitivity of biopsies in short-segment BE by >30%. PMID:26346864

  3. The Demographics of Canine Hip Dysplasia in the United States and Canada

    Science.gov (United States)

    Todhunter, Rory J.

    2017-01-01

    Canine hip dysplasia (CHD) is a common problem in veterinary medicine. We report the demographics of CHD using the entire hip dysplasia registry from the Orthopedic Foundation for Animals, analyzing differences by breed, sex, laterality, seasonal variation in birth, and latitude. There were 921,046 unique records. Each dog was classified using the American Kennel Club (AKC) and Fédération Cynologique Internationale (FCI) systems. Statistical analysis was performed with bivariate and logistic regression procedures. The overall CHD prevalence was 15.56%. The OR for CHD was higher in females (1.05), those born in spring (1.14) and winter (1.13), and those in more southern latitudes (OR 2.12). Within AKC groups, working dogs had the highest risk of CHD (OR 1.882) with hounds being the reference group. Within FCI groups, the pinscher/molossoid group had the highest risk of CHD (OR 4.168) with sighthounds being the reference group. The similarities between CHD and DDH are striking. Within DDH there are two different types, the typical infantile DDH and the late onset adolescent/adult acetabular dysplasia, with different demographics; the demographics of CHD are more similar to the later onset DDH group. Comparative studies of both disorders should lead to a better understanding of both CHD and DDH. PMID:28386583

  4. The Demographics of Canine Hip Dysplasia in the United States and Canada

    Directory of Open Access Journals (Sweden)

    Randall T. Loder

    2017-01-01

    Full Text Available Canine hip dysplasia (CHD is a common problem in veterinary medicine. We report the demographics of CHD using the entire hip dysplasia registry from the Orthopedic Foundation for Animals, analyzing differences by breed, sex, laterality, seasonal variation in birth, and latitude. There were 921,046 unique records. Each dog was classified using the American Kennel Club (AKC and Fédération Cynologique Internationale (FCI systems. Statistical analysis was performed with bivariate and logistic regression procedures. The overall CHD prevalence was 15.56%. The OR for CHD was higher in females (1.05, those born in spring (1.14 and winter (1.13, and those in more southern latitudes (OR 2.12. Within AKC groups, working dogs had the highest risk of CHD (OR 1.882 with hounds being the reference group. Within FCI groups, the pinscher/molossoid group had the highest risk of CHD (OR 4.168 with sighthounds being the reference group. The similarities between CHD and DDH are striking. Within DDH there are two different types, the typical infantile DDH and the late onset adolescent/adult acetabular dysplasia, with different demographics; the demographics of CHD are more similar to the later onset DDH group. Comparative studies of both disorders should lead to a better understanding of both CHD and DDH.

  5. Is intraarticular pathology common in patients with hip dysplasia undergoing periacetabular osteotomy?

    Science.gov (United States)

    Domb, Benjamin G; Lareau, Justin M; Baydoun, Hasan; Botser, Itamar; Millis, Michael B; Yen, Yi-Meng

    2014-02-01

    Periacetabular osteotomy (PAO) enables correction of bony acetabular deficiency in the setting of hip dysplasia. Patients with insufficient acetabular coverage often have intraarticular pathology, but the degree of this pathology has been incompletely characterized. We have used arthroscopy as an adjunct to PAO to further delineate intraarticular pathology in patients with hip dysplasia with mechanical symptoms. We documented the arthroscopic incidence of (1) femoral and acetabular chondral pathology, (2) femoral neck cam lesions, and (3) internal snapping or ligamentum teres pathology among patients having arthroscopy before PAO. We reviewed all 16 patients (17 hips; mean age at surgery, 21 years; range, 12-33 years) with hip dysplasia who underwent PAOs and concomitant hip arthroscopy at our institutions from October 2010 to March 2012. During this period, 80 patients underwent PAOs, making the arthroscopic cohort 21% of the total cohort. Indications for concomitant hip arthroscopy were mechanical symptoms consistent with labral pathology identified on MRI. We documented pathology involving the labrum, chondral surface, ligamentum teres, cam deformity, and psoas tendon. Arthroscopy revealed significant intraarticular pathology in all patients. Fourteen hips had anterosuperior labral tears, and three hips had preoperative findings of internal snapping hip. Eleven hips had femoral cam-type lesions in addition to dysplasia, and 16 hips had articular chondral injury. Two hips had full-thickness ligamentum tears, and 13 hips had partial-thickness tears. Intraarticular pathology at the time of PAO is common. Future studies are needed to rigorously address the use of arthroscopic intervention during PAO and the impact on clinical outcome compared to PAO alone.

  6. Education and related support from medical specialists for Japanese patients with major skeletal dysplasias.

    Science.gov (United States)

    Haga, Nobuhiko; Kosaki, Keisuke; Takikawa, Kazuharu; Tanaka, Hiroshi; Okada, Keita; Nakahara, Yasuo; Ogata, Naoshi

    2013-10-01

    Skeletal dysplasias manifest various clinical symptoms. Age at onset, severity, and progression of symptoms differ even among individuals with the same diagnosis. Though necessary support in education is presumed to differ among patients with different disorders, few articles report on education in patients with skeletal dysplasias. To clarify what types of schools children with major skeletal dysplasias attend, what kind of support they needed at schools, and how the advice on such support was conveyed from medical specialists to schools. Questionnaire study on patients with achondroplasia or hypochondroplasia (A/HCH), and osteogenesis imperfecta (OI). In A/HCH childhood locomotion ability was high and most patients had received general education, irrespective of their generation. Children with OI showed a lower level of locomotion ability; only about half of them had received general education. In selecting schools, the patients received advice from pediatricians, physiatrists, and orthopedic surgeons. The degree of necessity and content of support at the schools differed between A/HCH and OI. Remodeling of the lavatory, washbasin, and chair and support during swimming lessons were common in A/HCH patients. Support in school for OI patients was more frequent and included propelling wheelchairs, assisting in the use of the bathroom, and remodeling the lavatory. Most children were restricted from participating in physical education classes. Locomotion ability and the necessary support at school differed between A/HCH and OI. Support and advice from medical specialists who recognize disability of patients with skeletal dysplasias may improve patients' participation and education in schools. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Guidelines for genetic skeletal dysplasias for pediatricians

    Directory of Open Access Journals (Sweden)

    Sung Yoon Cho

    2015-12-01

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

  8. 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.

  9. 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.

  10. Impaired Pulmonary Vascular Development in Bronchopulmonary Dysplasia

    Science.gov (United States)

    Baker, Christopher D.; Abman, Steven H.

    2015-01-01

    Bronchopulmonary dysplasia (BPD), the chronic lung disease associated with preterm birth, results from disruption of normal pulmonary vascular and alveolar growth. Though BPD was once described as primarily due to postnatal injury from mechanical ventilation and oxygen therapy after preterm birth, it is increasingly appreciated that BPD results from antenatal and perinatal factors that interrupt lung development in infants born at the extremes of prematurity. The lung in BPD consists of a simplified parenchymal architecture that limits gas exchange and leads to increased cardiopulmonary morbidity and mortality. This review outlines recent advances in the understanding of pulmonary vascular development and describes how disruption of these mechanisms results in BPD. We point to future therapies that may augment postnatal vascular growth to prevent and treat this severe chronic lung disease. PMID:26044102

  11. Altered lung development in bronchopulmonary dysplasia.

    Science.gov (United States)

    Hadchouel, Alice; Franco-Montoya, Marie-Laure; Delacourt, Christophe

    2014-03-01

    Bronchopulmonary dysplasia (BPD) is the main respiratory sequela of extreme prematurity. Its pathophysiology is complex, involving interactions between host and environment, likely to be significantly influenced by genetic factors. Thus, the clinical presentation and histological lesions have evolved over time, along with the reduction in neonatal injuries, and the care of more immature children. Impaired alveolar growth, however, is a lesion consistently observed in BPD, such that it is a key feature in BPD, and is even the dominant characteristic of the so-called "new" forms of BPD. This review describes the key molecular pathways that are believed to be involved in the genesis of BPD. Much of our understanding is based on animal models, but this is increasingly being enriched by genetic approaches, and long-term respiratory functional studies. Copyright © 2014 Wiley Periodicals, Inc.

  12. Ectodermal dysplasia-skin fragility syndrome

    Directory of Open Access Journals (Sweden)

    Vijay S Adhe

    2011-01-01

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

  13. 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.)

  14. Urethral dysontogenic metaplasia in cat with bilateral renal dysplasia

    Directory of Open Access Journals (Sweden)

    Carolina da Fonseca Sapin

    2017-10-01

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

  15. A new skeletal dysplasia: clinical, radiologic, and pathologic findings.

    Science.gov (United States)

    Burton, B K; Sumner, T; Langer, L O; Rimoin, D L; Adomian, G E; Lachman, R S; Nicastro, J F; Kelly, D L; Weaver, R G

    1986-10-01

    Two siblings, one male and one female, were noted to have a distinct skeletal dysplasia. The clinical and radiographic features resemble those observed in Kniest dysplasia and Rolland-Desbuquois syndrome, but important differences were noted. Specifically, these two patients have microstomia, "pursed" lips, and ectopia lentis, and their radiographs reveal no coronal clefts. Chondro-osseous features also differ from those observed in either of the other disorders. Scattered dense patches consisting of collagen fibers 10 to 30 times broader than normal are seen scattered throughout the cartilage matrix; the "Swiss cheese" appearance characteristic of Kniest dysplasia is not observed. These patients appear to have a new skeletal dysplasia, most likely inherited in an autosomal recessive fashion.

  16. 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.

  17. Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes

    Energy Technology Data Exchange (ETDEWEB)

    Marik, I.; Kuklik, M. [Ambulant Centre for Defects of the Locomotor Apperatus, Prague (Czech Republic); Marikova, O [Ambulant Centre for Defects of the Locomotor Apperatus, Prague (Czech Republic); Dept. of Anthrophology and Human Genetics, Charles Univ., Prague (Czech Republic); Zemkova, D. [Ambulant Centre for Defects of the Locomotor Apperatus, Prague (Czech Republic); 2. Paediatric Clinic, Motol Teaching Hospital, Prague (Czech Republic); Kozlowski, K. [Dept. of Medical Imaging, Children' s Hospital at Westmead, Sydney (Australia)

    2004-03-01

    To present four related patients with progressive pseudorheumatoid dysplasia (PPsRD) each with distinctive history, unique phenotype and some peculiar radiographic findings. Results and conclusions The history was characterised by weather-dependent articular pain. The unique phenotypic features were hypoplasia/dysplasia of one or two toes. Peculiar radiographic findings were hypoplasia of the 3rd and 4th metatarsals, platyspondyly with rectangular shape of the lumbar spinal canal, progressive narrowing of the joint spaces and early synovial chondromatosis. Finally, the condition was inherited as a dominant trait. This constellation of abnormalities constitutes a distinct form of PPsRD. PPsRD must be differentiated from other bone dysplasias, specifically spondyloepiphyseal dysplasias, autosomal dominant spondylarthropathy, juvenile rheumatoid arthritis and osteoarthritis.

  18. 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.

  19. [Clinical and molecular study in a family with cleidocranial dysplasia].

    Science.gov (United States)

    Callea, Michele; Fattori, Fabiana; Bertini, Enrico S; Yavuz, Izzet; Bellacchio, Emanuele; Avendaño, Andrea; Araque, Dianora; Lacruz-Rengel, María A; Da Silva, Gloria; Cammarata-Scalisi, Francisco

    2017-12-01

    Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is Estudio clínico y molecular en una familia con displasia cleidocraneal Clinical and molecular study in a family with cleidocranial dysplasia produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G> A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation in these patients with the same genotype. Sociedad Argentina de Pediatría.

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

    NARCIS (Netherlands)

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

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

  1. Use of amaranthus leucocarpus lectin to differentiate cervical dysplasia (CIN).

    Science.gov (United States)

    Santaella-Verdejo, Arturo; Gallegos, Belem; Pérez-Campos, Eduardo; Hernández, Pedro; Zenteno, Edgar

    2007-01-01

    Alterations in O-glycosylation of proteins in cell surfaces can originate disorder in cellular function, as well as in cell transformation and tumoral differentiation. In this work, we investigate changes in O-glycosylation in cervical intraepithelial dysplasia (CIN) at different stages of differentiation (CIN I, CIN II, and CIN III) using lectins specific for O-glycosidically linked glycans. Twenty cases with CIN I, CIN II, and CIN III dysplasias each, and 20 normal cases were studied by lectin histochemistry and evaluated under optical microscopy. The lectins from Glycine max and Griffonia simplicifolia showed no differences in their recognition pattern among the different CIN stages and normal tissue. Dolichos Biflorus lectin recognized CIN I dysplasia. Lectin from Amaranthus leucocarpus showed increased reactivity in the presence of CIN II dysplasia, compared with CIN I and CIN III. These results suggest that subtle modifications in the O-glycosylation pattern could be considered in diagnosis or prognosis of cervical precancerous stages.

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

    Directory of Open Access Journals (Sweden)

    G. D. Rao

    2010-10-01

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

  3. Initial respiratory management in preterm infants and bronchopulmonary dysplasia

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    Ester Sanz López

    2011-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Hamza Sucuoglu

    2016-02-01

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

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

    NARCIS (Netherlands)

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

    2010-01-01

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

  6. 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.

  7. [Monostotic fibrous dysplasia of the calcaneus: two case reports].

    Science.gov (United States)

    Hauger, O; Rivel, J; Moinard, M; Dallet, E; Diard, F

    2003-05-01

    The authors report two unusual cases of aggressive monostotic fibrous dysplasia involving the calcaneus. This lesion occurs on the 2th decade of life. The main symptom is talalgia. On plain films, differential diagnosis includes aggressive cystic or pseudocystic lesions of the calcaneus. On MR imaging, the tumor matrix is more suggestive of the diagnosis. Treatment of this aggressive form of fibrous dysplasia consists of a surgical curettage completed by cryotherapy and graft because of a high level of recurrence.

  8. Osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis

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    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.

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

    OpenAIRE

    Fries, C L; Remedios, A M

    1995-01-01

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

  10. Hypocalcitonemia in Handigodu Disease: a spondylo epi (meta) physeal dysplasia

    OpenAIRE

    Badadani, Mallikarjun; Shetty, K Taranath; Agarwal, SS

    2010-01-01

    Handigodu Disease (HD) is a disorder of the osteoarticular system which is highly prevalent in several villages of two districts viz, Shimoga and Chikmaglur of the state of Karnataka, southern India. The scientific name of the disease is Spondylo-epi-(meta) physeal Dysplasia, Autosomal Dominant variety, Handigodu syndrome. The same has been listed in the International Classification of Skeletal Dysplasias. The calcium homeostasis study was lack in HD. The serum calcium, phosphorus, parathyroi...

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

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    Gautier Chene

    2012-01-01

    Full Text Available Aim. Ovarian epithelial dysplasia was initially described in material from prophylactic oophorectomies performed in patients at genetic risk of ovarian cancer. Similar histopathological abnormalities have been revealed after ovulation stimulation. Since infertility is also a risk factor for ovarian neoplasia, the aim of this study was to study the relationship between infertility and ovarian dysplasia. Methods. We blindly reviewed 127 histopathological slides of adnexectomies or ovarian cystectomies according to three groups—an exposed group to ovulation induction (n = 30, an infertile group without stimulation (n = 35, and a spontaneously fertile control group (n = 62—in order to design an eleven histopathological criteria scoring system. Results. The ovarian dysplasia score was significantly higher in exposed group whereas dysplasia score was low in infertile and control groups (resp., 8.21 in exposed group, 3.69 for infertile patients, and 3.62 for the controls. In the subgroup with refractory infertility there was a trend towards a more severe dysplasia score (8.53 in ovulation induction group and 5.1 in infertile group. Conclusion. These results raise questions as to the responsibility of drugs used to induce ovulation and/or infertility itself in the genesis of ovarian epithelial dysplasia.

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

    Science.gov (United States)

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

    2014-11-01

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

  13. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

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    Sillence David

    2011-06-01

    Full Text Available Abstract Background The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK and metatropic dysplasia (MD are currently considered three distinct skeletal dysplasias with some shared clinical features, including short stature, platyspondyly, and progressive scoliosis. Recently, TRPV4 mutations have been found in patients diagnosed with these skeletal phenotypes. Methods and Results We critically analysed the clinical and radiographic data on 26 subjects from 21 families, all of whom had a clinical diagnosis of one of the conditions described above: 15 with MD; 9 with SMDK; and 2 with brachyolmia. We sequenced TRPV4 and identified 9 different mutations in 22 patients, 4 previously described, and 5 novel. There were 4 mutation-negative cases: one with MD and one with SMDK, both displaying atypical clinical and radiographic features for these diagnoses; and two with brachyolmia, who had isolated spine changes and no metaphyseal involvement. Conclusions Our data suggest the TRPV4 skeletal dysplasias represent a continuum of severity with areas of phenotypic overlap, even within the same family. We propose that AD brachyolmia lies at the mildest end of this spectrum and, since all cases described with this diagnosis and TRPV4 mutations display metaphyseal changes, we suggest that it is not a distinct entity but represents the mildest phenotypic expression of SMDK.

  14. Identification of Quantitative Trait Loci (QTL) for Canine Hip Dysplasia and Canine Elbow Dysplasia in Bernese Mountain Dogs

    OpenAIRE

    Sophia Pfahler; Ottmar Distl

    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...

  15. 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 coxa valga (p 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.

  16. Craniofacial Skeletal Dysplasia of Opposite-sex Dizygotic Twins

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    Szu-Ting Chou

    2011-05-01

    Full Text Available Craniofacial skeletal dysplasia can lead to different skeletal malocclusions. Both environmental factors and heredity contribute to the formation of malocclusions. There are strong familial tendencies in the development of Angle's Class II and III malocclusions. Cases such as opposite-typed (Class II and III malocclusions with skeletal and dentoalveolar discordance in siblings or dizygotic (DZ twins have seldom been reported. We describe the rare case of a pair of opposite-sex DZ twins with completely different skeletal malocclusions, and discuss the clinical considerations for treatment. The patients were twins aged 13 years and 4 months. The girl had mandibular prognathism and a Class III dentoskeletal relationship, whereas the boy had skeletal Class II with mandibular retrusion. Several morphological traits have been implicated with hormonal effect. However, there was no evidence of whether the masculinization effect had any impact on jaw size in the female fetus or whether this effect lasted into adolescence. We suggest that, although DZ twins share the same growth environment, genetic or other unknown extrinsic factors can result in discordance of characteristics of the craniofacial skeleton, dentition, and occlusion.

  17. Shaken infant syndrome: developmental neuropathology, progressive cortical dysplasia, and epilepsy.

    Science.gov (United States)

    Marín-Padilla, Miguel; Parisi, Joseph E; Armstrong, Dawna L; Sargent, Steve K; Kaplan, James A

    2002-04-01

    This study describes the developmental neuropathology of two infants who survived 7 and 9 years, respectively, an episode of violent shaking (shaken infant syndrome) early in their lives. The shaking injuries include cortical and subcortical contusions, hemorrhages, hypoxic/ischemic and axonal damage, and severe edema. The types, distribution, and resolution of these shaking injuries are detailed by sequential radiographic studies and by pathologic examination at postmortem. Despite their severity and extent, these injuries resolved in a relatively short period of time. By 6 months, the original injuries are repaired and the resultant encephaloclastic encephalopathies (e.g., multicystic encephalomalacia, porencephaly, generalized white matter attenuation, diffuse cortical atrophy, microgyria, ulegyria, and hydrocephalus ex vacuo) are well established. No appreciable pathologic differences are detected when radiographic findings at 6 months of age are compared to postmortem observations. On the other hand, undamaged and/or partially damaged cortical regions survive the original insult and undergo post-injury reorganization that transforms the residual cortex structural and presumably functional organization. Prominent features of this post-injury reorganization include progressive cortical dysplasia with cytoarchitectural disorganization, laminar obliteration, morphologic and functional (synaptic reorganization) transformation of some neurons, preservation of layer 1 intrinsic fibers and Cajal-Retzius cells, and the presence of large (hypertrophic) intrinsic neurons with intense neurofilament immunoreactivity. We propose that this progressive dysplastic process modifies the residual cortex structural and functional organization, influences the child's neurological and psychological maturation, and may play a significant role in the pathogenesis of ensuing neurological and/or psychological sequelae.

  18. Concordance of HPV-DNA in cervical dysplasia or genital warts in women and their monogamous long-term male partners.

    Science.gov (United States)

    Rob, Filip; Tachezy, Ruth; Pichlík, Tomáš; Škapa, Petr; Rob, Lukáš; Hamšíková, Eva; Šmahelová, Jana; Hercogová, Jana

    2017-09-01

    Transmission of human papillomavirus (HPV) is a premise for development of cervical dysplasia and genital warts (GWs). This cross-sectional study assesses concordance of HPV types present in GWs or cervical dysplasia in women and genital infection of their monogamous male partners in conjunction with seroprevalence of HPV-6, -11, -16, and -18 antibodies. Blood was taken from both women and men, as well a smear of the urogenital area of men. HPV DNA detection in women was done in fixed paraffin embedded tissues under histological control. Of 143 couples who agreed to participate in the study, 68 met inclusion criteria. Type-specific concordance was observed in 32.5% (13/40) of couples in which women had genital warts and in 32.1% (9/28) of couples in which women had cervical dysplasia. In multivariate analysis only smoking in women was associated with concordance (P HPV-specific antibodies was high in male partners, but was not associated with presence of the same HPV type on their genitals. The same type-specific HPV antibodies were detected in 81.8% of men in couples with HPV-6 concordant genital warts, but only in 14.3% of men in couples with HPV-16 concordant cervical dysplasia (P HPV concordance in genital warts and cervical dysplasia lesions of women and genital infection of their male partners is common and similar. Higher seroconversion in couples with HPV-6 concordant genital warts compared with couples with HPV-16 concordant cervical dysplasia may be explained by viral load exposure. © 2017 Wiley Periodicals, Inc.

  19. P16(INK4A) immunostaining is a strong indicator for high-risk-HPV-associated oropharyngeal carcinomas and dysplasias, but is unreliable to predict low-risk-HPV-infection in head and neck papillomas and laryngeal dysplasias.

    Science.gov (United States)

    Mooren, Jeroen J; Gültekin, Sibel E; Straetmans, Jos M J A A; Haesevoets, Annick; Peutz-Kootstra, Carine J; Huebbers, Christian U; Dienes, Hans P; Wieland, Ulrike; Ramaekers, Frans C S; Kremer, Bernd; Speel, Ernst-Jan M; Klussmann, Jens P

    2014-05-01

    Human papillomavirus (HPV) is a risk factor for the development of benign and malignant mucosal head and neck lesions. P16(INK4A) is often used as a surrogate marker for HPV-infection, although there is still controversy with respect its reliability. Our aim was to determine if p16(INK4A) overexpression can accurately predict both high-risk and low-risk-HPV-presence in (pre)malignant and benign head and neck lesions. P16(INK4A) immunohistochemistry was performed on paraffin-embedded tissue sections of 162 oropharyngeal squamous cell carcinomas (OPSCC), 14 tonsillar and 23 laryngeal dysplasias, and 20 tonsillar and 27 laryngeal papillomas. PCR, enzyme-immunoassay and FISH analysis were used to assess HPV-presence and type. Of the 162 OPSCC and 14 tonsillar dysplasias, 51 (31%) and 10 (71%) were HPV16-positive, respectively. All tonsillar papillomas were HPV-negative and four laryngeal dysplasias and 26 laryngeal papillomas were positive for HPV6 or -11. P16(INK4A) immunohistochemistry revealed a strong nuclear and cytoplasmic staining in 50 out of 51 HPV16-positive and 5 out of 111 HPV-negative OPSCC (p papillomas and laryngeal dysplasias, irrespective of the HPV-status. In addition, the latter lesions generally showed a higher nuclear than cytoplasmic p16(INK4A) immunostaining intensity. In conclusion, our data show that strong nuclear and cytoplasmic p16(INK4A) overexpression is a reliable surrogate indicator for HPV16 in OPSCC and (adjacent) dysplasias. For HPV6 or -11-positive and HPV-negative benign and premalignant lesions of the tonsil and larynx, however, p16(INK4A) immunostaining is highly variable and cannot be recommended to predict HPV-presence. © 2013 UICC.

  20. Can 3D ultrasound identify trochlea dysplasia in newborns? Evaluation and applicability of a technique

    Energy Technology Data Exchange (ETDEWEB)

    Kohlhof, Hendrik, E-mail: Hendrik.Kohlhof@ukb.uni-bonn.de [Clinic for Orthopedics and Trauma Surgery, University Hospital Bonn, Sigmund-Freud-Str. 25, 53127 Bonn (Germany); Heidt, Christoph, E-mail: Christoph.heidt@kispi.uzh.ch [Department of Orthopedic Surgery, University Children' s Hospital Zurich, Steinwiesstrasse 74, 8032 Switzerland (Switzerland); Bähler, Alexandrine, E-mail: Alexandrine.baehler@insel.ch [Department of Pediatric Radiology, University Children' s Hospital Berne, Freiburgstrasse 18, 3010 Berne (Switzerland); Kohl, Sandro, E-mail: sandro.kohl@insel.ch [Department of Orthopedic Surgery, University Hospital Berne, Freiburgstrasse 18, 3010 Berne (Switzerland); Gravius, Sascha, E-mail: sascha.gravius@ukb.uni-bonn.de [Clinic for Orthopedics and Trauma Surgery, University Hospital Bonn, Sigmund-Freud-Str. 25, 53127 Bonn (Germany); Friedrich, Max J., E-mail: Max.Friedrich@ukb.uni-bonn.de [Clinic for Orthopedics and Trauma Surgery, University Hospital Bonn, Sigmund-Freud-Str. 25, 53127 Bonn (Germany); Ziebarth, Kai, E-mail: kai.ziebarth@insel.ch [Department of Orthopedic Surgery, University Hospital Berne, Freiburgstrasse 18, 3010 Berne (Switzerland); Stranzinger, Enno, E-mail: Enno.Stranzinger@insel.ch [Department of Pediatric Radiology, University Children' s Hospital Berne, Freiburgstrasse 18, 3010 Berne (Switzerland)

    2015-06-15

    Highlights: • We evaluated a possible screening method for trochlea dysplasia. • 3D ultrasound was used to perform the measurements on standardized axial planes. • The evaluation of the technique showed comparable results to other studies. • This technique may be used as a screening technique as it is quick and easy to perform. - Abstract: Femoro-patellar dysplasia is considered as a significant risk factor of patellar instability. Different studies suggest that the shape of the trochlea is already developed in early childhood. Therefore early identification of a dysplastic configuration might be relevant information for the treating physician. An easy applicable routine screening of the trochlea is yet not available. The purpose of this study was to establish and evaluate a screening method for femoro-patellar dysplasia using 3D ultrasound. From 2012 to 2013 we prospectively imaged 160 consecutive femoro-patellar joints in 80 newborns from the 36th to 61st gestational week that underwent a routine hip sonography (Graf). All ultrasounds were performed by a pediatric radiologist with only minimal additional time to the routine hip ultrasound. In 30° flexion of the knee, axial, coronal, and sagittal reformats were used to standardize a reconstructed axial plane through the femoral condyle and the mid-patella. The sulcus angle, the lateral-to-medial facet ratio of the trochlea and the shape of the patella (Wiberg Classification) were evaluated. In all examinations reconstruction of the standardized axial plane was achieved, the mean trochlea angle was 149.1° (SD 4.9°), the lateral-to-medial facet ratio of the trochlea ratio was 1.3 (SD 0.22), and a Wiberg type I patella was found in 95% of the newborn. No statistical difference was detected between boys and girls. Using standardized reconstructions of the axial plane allows measurements to be made with lower operator dependency and higher accuracy in a short time. Therefore 3D ultrasound is an easy

  1. 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.

  2. Tracheobronchomalacia Is Associated with Increased Morbidity in Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Hysinger, Erik B; Friedman, Nicholas L; Padula, Michael A; Shinohara, Russell T; Zhang, Huayan; Panitch, Howard B; Kawut, Steven M

    2017-06-16

    Tracheobronchomalacia is a common comorbidity in neonates with bronchopulmonary dysplasia. However, the effect of tracheobronchomalacia on the clinical course of bronchopulmonary dysplasia is not well-understood. We sought to assess the impact of tracheobronchomalacia on outcomes in neonates with bronchopulmonary dysplasia in a large, multi-center cohort. We preformed a cohort study of 974 neonates with bronchopulmonary dysplasia admitted to 27 neonatal intensive care units participating in the Children's Hospital Neonatal Database who had undergone bronchoscopy. In hospital morbidity for neonates with bronchopulmonary dysplasia and tracheobronchomalacia (N=353, 36.2%) was compared to those without tracheobronchomalacia (N=621, 63.8%) using mixed-effects multivariate regression. Neonates with tracheobronchomalacia and bronchopulmonary dysplasia had more comorbidities, such as gastroesophageal reflux (OR=1.65, 95%CI 1.23- 2.29, P=0.001) and pneumonia (OR=1.68, 95%CI 1.21-2.33, P=0.002) and more commonly required surgeries such as tracheostomy (OR=1.55, 95%CI 1.15-2.11, P=0.005) and gastrostomy (OR=1.38, 95%CI 1.03-1.85, P=0.03) compared with those without tracheobronchomalacia. Neonates with tracheobronchomalacia were hospitalitized (118 ± 93 vs 105 ± 83 days, P=0.02) and ventilated (83.1 ± 91.1 vs 67.2 ± 71.9 days, P=0.003) longer than those without tracheobronchomalacia. Upon discharge, neonates with tracheobronchomalacia and BPD were more likely to be mechanically ventilated (OR=1.37, 95CI 1.01-1.87 P=0.045) and possibly less likely to receive oral nutrition (OR=0.69, 95%CI 0.47-1.01, P=0.058). Tracheobronchomalacia is common in neonates with bronchopulmonary dysplasia who undergo bronchoscopy and is associated with longer and more complicated hospitalizations.

  3. Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.

    Science.gov (United States)

    Giedion, A; Prader, A; Fliegel, C; Krasikov, N; Langer, L; Poznanski, A

    1993-10-01

    We describe a "new" mild malformation of the phalanx, which we call the "angel-shaped phalanx" (ASP) because of its resemblance to the little angels used for the decoration of Christmas trees. A particular middle phalangeal type of ASPs is found in a distinct variety of multiple epiphyseal dysplasia with marked retardation of bone age and severe coxarthrosis in adult life, previously reported as "hereditary peripheral dysostosis" [Bachman, 1967: Proc R Soc Med 60:21-22; Giedion, 1969: Fortschr Rontgenstr 110:507-524]. However, these authors overlooked the unique configuration of the middle phalanges. We renamed the condition "angel-shaped phalango-epiphyseal dysplasia (ASPED)", which may be transmitted in an autosomal-dominant manner. Six new patients are added, bringing the total to nine patients (two families and two isolated patients). ASPs were seen in five of six children. The ASPs grew into inconspicuous brachydactyly after physeal closure (3/3). The most important additional radiological finding is late and dysplastic development of both femoral heads (5/5), leading to Perthes-like and osteoarthritic changes and severe hip pain in the early thirties (2/2 adults, having reached this age). The marked retardation of carpal bone age may lead to unnecessary clinical evaluation for endocrine disorders. Less frequent clinical manifestations of ASPED are hyperextensibility of the interphalangeal joints (7/9) and hypodontia (4/7). Other types of ASPs are observed in brachyphalangy type C, spondylo-megepiphyseal-metaphyseal dysplasia, and other conditions. The concept of mild bone abnormalities as specific markers for genetic disease, as with cone-shaped epiphyses and now evident in ASPED, may also be useful for ASPs in general.

  4. Comparison of histological grading and large-scale genomic status (DNA ploidy) as prognostic tools in oral dysplasia.

    Science.gov (United States)

    Sudbø, J; Bryne, M; Johannessen, A C; Kildal, W; Danielsen, H E; Reith, A

    2001-07-01

    Approximately one in ten oral white patches (leukoplakia) are histologically classified as dysplasia, with a well-documented potential for developing into oral squamous cell carcinoma (OSCC). Histological grading in oral dysplasia has limited prognostic value, whereas large-scale genomic status (DNA ploidy, nuclear DNA content) is an early marker of malignant transformation in several tissues. Biopsies from 196 patients with oral leukoplakia histologically typed as dysplasia were investigated. Inter-observer agreement among four experienced pathologists performing a simplified grading was assessed by Cohen's kappa values. For 150 of the 196 cases, it was also possible to assess large-scale genomic status and compare its prognostic impact with that of histological grading. Disease-free survival was estimated by life-table methods, with a mean follow-up time of 103 months (range 4-165 months). The primary considered end-point was the subsequent occurrence of OSCC. For grading of the total of 196 cases, kappa values ranged from 0.17 to 0.33 when three grading groups (mild, moderate, and severe dysplasia) were considered, and from 0.21 to 0.32 when two groups (low grade and high grade) were considered (p=0.41). For the 150 cases in which large-scale genomic status was also assessed, kappa values for the histological grading ranged from 0.21 to 0.33 for three grading groups and from 0.27 to 0.34 for two grading groups (p=0.47). In survival analysis, histological grading was without significant prognostic value for any of the four observers (p 0.14-0.44), in contrast to DNA ploidy (p=0.001). It is concluded that DNA ploidy in oral dysplasia has a practical prognostic value, unlike histological grading of the same lesions. Copyright 2001 John Wiley & Sons, Ltd.

  5. Chiari pelvic osteotomy in the management of developmental hip dysplasia: a long term follow-up.

    Science.gov (United States)

    Rozkydal, Z; Kovanda, M

    2003-01-01

    Developmental hip dysplasia in adults causes several anatomical changes which can lead to premature and progressive secondary osteoarthritis. The principle of Chiari osteotomy is the medialisation of the subluxated femoral head. This improves the biomechanics of the hip. The goal of the study was to assess the long term results of Chiari innominate osteotomy. The authors evaluated 130 hips after Chiari ostetomy from 230 patients operated on in the sears 1969-1985 at the Ist Orthopaedic Department of St. Anna University Hospital in Brno, Czech Republic. The mean follow-up was 22.3 years (15-30) and there were 125 women and 5 men. The average age at the time of the procedure was 29 years (15-52). We assessed the Harris hip score, daily activities, the length of the improvement after the procedure and asked the patients if they would undergo again the same procedure. We also assessed the CE angle, the Sharp angle, AHI index, the CCD angle, the Shenton's line, Crowe type of dysplasia, the shape of the femoral head and Kellgren-Lawrence grades of the osteoarthritis. There were 5 types of hip dysplasia in the study: coxa valga subluxans, coxa valga luxans, coxa plana brevis, coxa magna and severe deformity of the femoral head. There were 26 cases of hip dysplasia alone, 87 cases of hip dysplasia with a subluxation of the femoral head and 13 cases of dysplasia with a false acetabulum. We searched for the factors influencing the end results. We measured the medial shift of the distal pelvic fragment and the level of the osteotomy. The mean nmedial shift of the distal fragment was 22 mm e.g. 48.6%. There was a correct level of the osteotomy in 113 patients. Radiological features improved: the CE angle (-12 degrees to +37.2 degrees), the Sharp angle (48 degrees to 41 degrees), AHI index (51 to 96.3%). The Harris hip score improved from 42 points to 67.5 points an average. 65 patients have been satisfied with the procedure, 49 were partialy satisfied and 16 were not satisfied

  6. Dentin Dysplasia in Notum Knockout Mice.

    Science.gov (United States)

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

    2016-07-01

    Secreted WNT proteins control cell differentiation and proliferation in many tissues, and NOTUM is a secreted enzyme that modulates WNT morphogens by removing a palmitoleoylate moiety that is essential for their activity. To better understand the role this enzyme in development, the authors produced NOTUM-deficient mice by targeted insertional disruption of the Notum gene. The authors discovered a critical role for NOTUM in dentin morphogenesis suggesting that increased WNT activity can disrupt odontoblast differentiation and orientation in both incisor and molar teeth. Although molars in Notum(-/-) mice had normal-shaped crowns and normal mantle dentin, the defective crown dentin resulted in enamel prone to fracture during mastication and made teeth more susceptible to endodontal inflammation and necrosis. The dentin dysplasia and short roots contributed to tooth hypermobility and to the spread of periodontal inflammation, which often progressed to periapical abscess formation. The additional incidental finding of renal agenesis in some Notum (-/-) mice indicated that NOTUM also has a role in kidney development, with undiagnosed bilateral renal agenesis most likely responsible for the observed decreased perinatal viability of Notum(-/-) mice. The findings support a significant role for NOTUM in modulating WNT signaling pathways that have pleiotropic effects on tooth and kidney development. © The Author(s) 2016.

  7. Bronchopulmonary dysplasia: an old and new disease

    Directory of Open Access Journals (Sweden)

    Caterina Franco

    2014-06-01

    Full Text Available Bronchopulmonary dysplasia (BPD is one of the most common and significant medical complications associated with prematurity. It is made more serious by its morbidity and mortality rates. Although recent advances in clinical practice (prenatal steroids, surfactants, new ventilatory strategies, nutritional support have contributed to improving the clinical course and outcomes of neonates with BPD, its overall incidence has not changed in the last decade owing to a concomitant increase in survival of prematures. The incidence of BPD is in fact inversely proportional to birth weight: 30% for neonates weighing less than 1,000 g, with different percentages in the single centres depending on clinical management and the ventilation criteria applied. However, to date, BPD represents not only a chronic pulmonary pathology in infancy that prevalently affects premature neonates who undergo mechanical ventilation and oxygen therapy for respiratory distress syndrome (RDS, but also prematures with minor signs of initial pulmonary pathology or term neonates requiring aggressive ventilatory support due to an acute and severe lung pathology. Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  8. 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.

  9. Focal cortical dysplasia and epilepsy surgery.

    Science.gov (United States)

    Lee, Sang Kun; Kim, Dong-Wook

    2013-12-01

    Focal cortical dysplasia (FCD) is the most commonly encountered developmental malformation that causes refractory epilepsy. With advances in neuroimaging techniques, in particular MRI, recent studies have revealed a higher prevalence of FCD than previously estimated and have improved the preoperative identification and classification of these abnormalities. However, MRI frequently does not show any abnormalities in patients with pathologically proven FCD. In this situation, functional neuroimaing such as FDG-PET and ictal SPECT can be helpful. FCD is thought to be intrinsically epileptogenic, because the dysplastic tissues contain aberrant neural networks that are highly susceptible to abnormal excitation. The response to the medical treatment of epilepsy has been documented as consistently poor. Therefore, surgical resection has been an important alternative treatment for patients with intractable epilepsy related to FCD. Incomplete resection of FCD has been consistently known to be a poor prognostic factor. However, the complete removal of FCD is often difficult because the demarcation of the lesion is frequently poor, and dysplastic tissues tend to be more extensive than is apparent on MRI. Evidence indicates that even patients with MRI abnormalities who have resective epilepsy surgery for FCD have worse surgical outcomes than those of patients who have surgery for other focal lesional epilepsy syndromes. Careful planning of evelauation using intracranial electrodes is necessary for successful epilepsy surgery.

  10. [Premature infants bronchopulmonary dysplasia: past and present].

    Science.gov (United States)

    Hadchouel, A; Delacourt, C

    2013-08-01

    Bronchopulmonary dysplasia (BPD) is the most common chronic respiratory disease in premature infants. BPD was first described by Northway in 1967 as a chronic respiratory condition that developed in premature infants exposed to mechanical ventilation and high oxygen supplementation. DBP is currently defined by the need for supplemental oxygen at 28 days of life (mild BPD) and at the 36 weeks of post-menstrual age (moderate and severe BPD). With the advances of neonatal care, epidemiological characteristics and mechanisms of the disease as well as pathological characteristics and clinical course have profoundly changed within the last two decades, but still no effective curative treatment exists and BPD continue to occur among 10 to 20% of premature infants. Furthermore, BPD is a significant source of respiratory and neuro-cognitive morbidities. Thus, its treatment makes a considerable demand on health services. Regarding its pathophysiological mechanisms, it is now established that BPD is a complex disease combining genetic susceptibility and environmental injuries. The identification of genetic variants involved in BPD is a potential source of innovative development in terms of diagnosis and treatment. Indeed, no curative or effective prophylactic therapeutic exists and BPD treatment is currently symptomatic. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  11. Pathogenesis and Treatment of Bronchopulmonary Dysplasia

    Science.gov (United States)

    Gien, Jason; Kinsella, John P.

    2012-01-01

    Purpose of review Bronchopulmonary dysplasia (BPD) is a chronic lung disease of infancy affecting mostly premature infants with significant morbidity and mortality. Improved survival of very immature infants has led to increased numbers of infants with this disorder. Acute and chronic lung injury and impaired postnatal lung growth are thought to be responsible for the development of BPD. While changes in clinical practice have improved the clinical course and outcomes for infants with BPD, over the last decade, the overall incidence of BPD has not changed. This review will describe the pre and postnatal factors that contribute to the pathogenesis of BPD as well as current and experimental therapies for treatment of BPD. Recent findings The factors that contribute to the pathogenesis of BPD are well described, however recent studies have better defined how these factors modulate lung growth. Inflammation, proinflammatory cytokines and altered angiogenic gene signaling contribute to lung injury and impair pre and postnatal lung growth resulting in BPD, however to date no therapy has been identified that potently and consistently prevents or reverses their effects on lung growth. We will discuss the cell signaling pathways affected in BPD and current therapies available for modulating these pathways. Summary Despite current advances in neonatal care, BPD remains a heavy burden on health care resources. New treatments directed either at reducing lung injury or improving lung growth are under study. PMID:21494147

  12. The genetic predisposition to bronchopulmonary dysplasia

    Science.gov (United States)

    Yu, Kun-Hsing; Li, Jingjing; Snyder, Michael; Shaw, Gary M.; O’Brodovich, Hugh M.

    2016-01-01

    Purpose of review Bronchopulmonary dysplasia (BPD) is a prevalent chronic lung disease in premature infants. Twin studies have shown strong heritability underlying this disease; however, the genetic architecture of BPD remains unclear. Recent findings A number of studies employed different approaches to characterize the genetic aberrations associated with BPD, including candidate gene studies, genome-wide association studies, exome sequencing, integrative omics analysis, and pathway analysis. Candidate gene studies identified a number of genes potentially involved with the development of BPD, but the etiological contribution from each gene is not substantial. Copy number variation studies and three independent genome-wide association studies did not identify genetic variations significantly and consistently associated with BPD. A recent exome-sequencing study pointed to rare variants implicated in the disease. In this review, we summarize these studies’ methodology and findings, and suggest future research directions to better understand the genetic underpinnings of this potentially life-long lung disease. Summary Genetic factors play a significant role in the development of BPD. Recent studies suggested that rare variants in genes participating in lung development pathways could contribute to BPD susceptibility. PMID:26963946

  13. 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.

  14. Pulmonary Hemosiderosis in Children with Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    David Kurahara

    2014-01-01

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

  15. [MRI diagnosis of right ventricular dysplasia].

    Science.gov (United States)

    Sommer, T; Lewalter, T; Bierhoff, E; Pakos, E; von Smekal, A; Pauleit, D; Hofer, U; Lüderitz, B; Schild, H

    1998-12-01

    Right ventricular dysplasia (RVD) represents an important cause of sudden death and ventricular arrhythmias in young patients. The aim of this study was to describe diagnostic diagnostic criteria and the MR-tomographie aspects of the disease. 34 patients with clinically suspected RVD were examined by 0.5-T MRI (cardiac-gated T1-weighted spin echo sequences and cine gradient echo sequences). RVD was confirmed in 16 patients and ruled out in 18 patients. MR images were evaluated for presence of: 1. right myocardial fatty infiltration, 2. dilatation of the right ventricle, 3. dilatation of the right ventricular outflow tract, and 4. localised right ventricular aneurysm. Right myocardial fatty infiltration was detected by MRI in 11 of 16 patients (69%) with RVD. Dilatation of the right ventricle was seen in 5 patients, dilatation of the right outflow tract in one patient, and localised right ventricular aneurysm in two patients with RVD. MRI is able to demonstrate fatty replacement of right ventricular myocardium in most cases and plays an important role in the diagnosis of RVD.

  16. Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes

    DEFF Research Database (Denmark)

    Duchatelet, Sabine; Ostergaard, Elsebet; Cortes, Dina

    2005-01-01

    Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen...... and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutations. Notably, the skeletal features are opposite to those in Blomstrand chondrodysplasia, which is caused by inactivating recessive mutations in PTHR1. To our knowledge, this is the first description...... of opposite manifestations resulting from distinct recessive mutations in the same gene....

  17. Dysplasia epiphysealis hemimelica of the ankle: a fracture-like rare developmental disorder.

    Science.gov (United States)

    Papamerkouriou, Yvonne-Mary; Orfanos, Ioannis; Tsiridis, Eleftherios; Anastasopoulos, John

    2015-09-30

    Dysplasia epiphysealis hemimelica is a rare developmental disorder which affects the epiphyses. We report a case of the disease located in the ankle joint, referred to our clinic with the initial misdiagnosis of a Salter-Harris 3 type fracture of the distal epiphysis of the tibia. After correct diagnosis, the patient was treated surgically with the excision of the cartilaginous masses. Taking an accurate medical history and performing adequate imaging studies is essential in diagnosing and treating this disease. Fracture-like epiphyseal configurations in patients with no history of injury should raise suspicion of periarticular developmental disorders. 2015 BMJ Publishing Group Ltd.

  18. Pattern and prenatal diagnosis of skeletal dysplasias in Qatar population.

    Science.gov (United States)

    Ahmed, Badreldeen; Fakhry, Abdel-Baset; Luetic, Ana Tikvica; Kurjak, Asim

    2010-12-01

    To determine the pattern of skeletal dysplasias in Qatar population and to assess the accuracy of prenatal diagnosis and prognosis. This was a retrospective descriptive study of 30 women with high risk for skeletal dysplasias. The recruited women were submitted to clinical assessment, ultrasound scanning using 2-dimensional, 3-dimensional/4-dimensional and colour Doppler technique with possible molecular diagnosis. The findings were compared with the postnatal or postmortem assessments. Final diagnosis was based on clinical examination, skeletal survey, autopsy and molecular testing as deemed necessary. Thirty cases of skeletal dysplasia were antenatally diagnosed over 4-year period with family history in few cases. Among many entities thanatophoric dysplasia showed largest prevalence [7(23%)]. Prenatal diagnosis was accurate in 76% of foetuses while the first indicator of abnormality was a suspected anomaly found during routine ultrasound assessment in most cases [17(56%)]. Prediction of lethality based on ultrasound findings was 100% accurate. This study confirmed the possibility of good prenatal diagnosis of skeletal dysplasias present among Qatar population. Diagnosis based on ultrasound assessment will improve by adding molecular techniques with positive impact on prenatal care.

  19. Decreased serum retinol levels in women with cervical dysplasia.

    Science.gov (United States)

    Shimizu, H.; Nagata, C.; Komatsu, S.; Morita, N.; Higashiiwai, H.; Sugahara, N.; Hisamichi, S.

    1996-01-01

    To examine the relationship of dietary and serum vitamin A to the risk of cervical dysplasia, a case-control study was conducted in Miyagi, Japan. Cases were 137 women who were found by Papanicolaou test screening and histological examination provided by Miyagi Cancer Society between October 1987 and September 1988 to have cervical dysplasia. Controls were selected from participants of the general health examination provided by the Society and individually matched to cases on age and screening date. The consumption of retinol or carotene-rich foods during the past 7 days was assessed at interview. Information was also collected about other risk factors of cervical dysplasia, such as reproductive histories and sexual behaviour. The mean serum retinol levels were significantly lower among cases compared with controls, although dietary intake levels of retinol and carotene were not different between the two groups. When examined by tertile, the risk of cervical dysplasia was significantly higher among women in the highest tertile of dietary vitamin A level. An inverse association was observed between serum retinol level and risk of cervical dysplasia, although it did not achieve statistical significance. PMID:8664137

  20. Florid Cemento-osseous Dysplasia: A Case of Misdiagnosis.

    Science.gov (United States)

    Delai, Débora; Bernardi, Anarela; Felippe, Gabriela Santos; da Silveira Teixeira, Cleonice; Felippe, Wilson Tadeu; Santos Felippe, Mara Cristina

    2015-11-01

    Florid cemento-osseous dysplasia (FCOD) belongs to the group of fibro-osseous lesions in which normal bone is replaced by fibrous connective tissue and calcified cementum tissue of the avascular type. Among the various types of fibro-osseous lesions, FCOD is one of the most commonly encountered diseases in clinical practice and may involve 3 or 4 of the quadrants. FCOD is located in the periapical regions of teeth, and the lesions are predominantly radiolucent (osteolytic phase), become mixed over time (cementoblast phase), and ultimately become radiopaque (osteogenic phase) with a thin radiolucent peripheral halo. The characteristics of FCOD in the initial stages are similar to those of periapical lesions of inflammatory origin, which may lead to misdiagnosis. A 38-year-old woman sought dental care because of complaints of pain on the right side of her face. A clinical examination revealed no marked alterations; a panoramic radiograph was therefore requested and revealed the presence of radiolucent lesions associated with the periapical regions of some of the lower teeth. Thus, the professional referred the patient for endodontic treatment of the associated teeth with the justification that the lesions were of endodontic origin. However, the endodontist found that the teeth responded positively to a sensitivity test. The initial diagnosis could have resulted in unnecessary root canal treatment, but after careful clinical, radiographic, and tomographic assessments by different professionals, FCOD was diagnosed, conservatively treated, and regularly monitored. It is important that dentists have a basic knowledge of the various injuries that affect the jaw bones to prevent errors in diagnosis and treatment and to promote oral health. Copyright © 2015 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  1. Bronchopulmonary dysplasia: correlation of radiographic and clinical findings

    Energy Technology Data Exchange (ETDEWEB)

    Breysem, L. [Department of Radiology, University Hospitals, K. U. Leuven, Herestraat 49, B-3000 Leuven (Belgium); Smet, M.H. [Department of Radiology, University Hospitals, K. U. Leuven, Herestraat 49, B-3000 Leuven (Belgium); Lierde, S. van [Department of Pediatrics, University Hospitals of Leuven, Leuven (Belgium); Devlieger, H. [Department of Pediatrics, University Hospitals of Leuven, Leuven (Belgium); Boeck, K. de [Department of Pediatrics, University Hospitals of Leuven, Leuven (Belgium); Marchal, G. [Department of Radiology, University Hospitals, K. U. Leuven, Herestraat 49, B-3000 Leuven (Belgium)

    1997-08-01

    Background and purpose. Abnormalities of the chest wall have been described in bronchopulmonary dysplasia (BPD). Clinical, radiographic and pulmonary function variables were evaluated in 1-year-old children ventilated because of neonatal lung disease in order to quantify these thoracic changes and to evaluate the lung disease. Methods. The pulmonary status of 51 infants with neonatal lung disease requiring artificial ventilation was reevaluated clinically and radiographically at the age of 1 year. Twenty-two of these infants had developed BPD. Thoracic depth and width were measured clinically and on chest X-ray. The Toce score evaluated the presence of cardiomegaly, hyperinflation, emphysema and interstitial lung disease. Lung function was measured after sedation using previously reported methods. In BPD patients, Toce score and lung function were determined and compared at 1 month and at 1 year of age. Results. In BPD patients, chest depth was significantly smaller when measured clinically as well as on chest radiograph (P < 0.05; Mann-Whitney U-test). There was a statistically significant correlation between chest depth measured clinically and on chest X-ray. Toce score was significantly higher in BPD patients (P < 0.05). In BPD patients intersitial abnormalities and decreased lung compliance were more frequent at the age of 1 month than at the age of 1 year. At the age of 1 year, hyperinflation was more frequent and at that time increased airway resistance was still noted. Thus the type of X-ray abnormality reflects the type of lung function disturbance. Conclusion. The flatness of the chest is most likely a consequence of the long-standing lung function abnormalities. (orig.). With 3 figs., 6 tabs.

  2. 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.

  3. Fibrous dysplasia complicated by aneurysmal bone cyst formation affecting multiple cervical vertebrae

    Energy Technology Data Exchange (ETDEWEB)

    Lomasney, L.M.; Demos, T.C. [Dept. of Radiology, Loyola Univ. Medical Center, Maywood, IL (United States); Basu, A. [Stritch School of Medicine, Chicago, IL (United States); Laskin, W. [Dept. of Pathology, Northwestern Univ. Medical Center, Chicago, IL (United States)

    2003-09-01

    Fibrous dysplasia is a well-known benign dysplastic process of bone. However, fibrous dysplasia is very uncommon in the spine. Further, to our knowledge, co-existence of fibrous dysplasia and aneurysmal bone cyst in the spine has not been reported. This manuscript presents a patient who had both processes involving the cervical spine. (orig.)

  4. Risk of neoplastic progression in Barrett's esophagus diagnosed as indefinite for dysplasia : A nationwide cohort study

    NARCIS (Netherlands)

    Kestens, Christine; Leenders, Max; Offerhaus, G. Johan A; Van Baal, Jantine W P M; Siersema, Peter D.

    2014-01-01

    Background and study aims: A histological diagnosis of "indefinite for dysplasia" (IND) in Barrett's esophagus is used when a diagnosis of genuine dysplasia is equivocal. The aim of the present study was to assess the risk of progression to high grade dysplasia (HGD) or esophageal adenocarcinoma

  5. Risk of neoplastic progression in Barrett's esophagus diagnosed as indefinite for dysplasia : A nationwide cohort study

    NARCIS (Netherlands)

    Kestens, Christine; Leenders, Max; Offerhaus, G. Johan A; Van Baal, Jantine W P M; Siersema, Peter D.

    2015-01-01

    Background and study aims: A histological diagnosis of indefinite for dysplasia (IND) in Barrett's esophagus is used when a diagnosis of genuine dysplasia is equivocal. The aim of the present study was to assess the risk of progression to high grade dysplasia (HGD) or esophageal adenocarcinoma (EAC)

  6. Risk of neoplastic progression in Barrett's esophagus diagnosed as indefinite for dysplasia: a nationwide cohort study

    NARCIS (Netherlands)

    Kestens, C.; Leenders, M.; Offerhaus, G.J.; Baal, J.W. van; Siersema, P.D.

    2015-01-01

    BACKGROUND AND STUDY AIMS: A histological diagnosis of "indefinite for dysplasia" (IND) in Barrett's esophagus is used when a diagnosis of genuine dysplasia is equivocal. The aim of the present study was to assess the risk of progression to high grade dysplasia (HGD) or esophageal adenocarcinoma

  7. 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

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

    Directory of Open Access Journals (Sweden)

    Seema Vaidya

    2013-01-01

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

  9. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

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

    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...

  10. Cytogenetic biomonitoring in oral leukoplakia patients with mild dysplasia.

    Science.gov (United States)

    Sánchez-Siles, Mariano; Camacho-Alonso, Fabio; Ros-Llor, Irene; López-Jornet, Pia

    2014-12-01

    A study is made of DNA damage and apoptosis in a group of patients with oral leukoplakia (OL) with mild dysplasia. The study comprised 30 patients with a clinicopathological diagnosis of OL with mild dysplasia and 30 controls. Both samples were similar in terms of age and gender distribution. Brush samples of lesion epithelial cells were collected, followed by cell centrifugation, preparation of the slides, fixation and staining, and analysis under the fluorescent light microscope. The exfoliated cells were examined to detect micronuclei (MN), nuclear buds, binucleated cells, condensed chromatin, pyknosis, and cells with karyorrhexis and karyolysis. The patients with OL with mild dysplasia showed a greater frequency of MN (P Leukoplakia lesions must be biomonitorized periodically. Biomonitorization offers sensibility, no morbidity, speed, and low cost. © 2014 The International Society of Dermatology.

  11. 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.)

  12. Placental mesenchymal dysplasia: What every radiologist needs to know

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    Disha Mittal

    2017-01-01

    Full Text Available Placental mesenchymal dysplasia (PMD is an uncommon vascular anomaly of the placenta characterized by placentomegaly with multicystic placental lesion on ultrasonography and mesenchymal stem villous hyperplasia on histopathology. Placental mesenchymal dysplasia should be considered in the differential diagnosis of cases of multicystic placental lesion such as molar pregnancy, chorioangioma, subchorionic hematoma, and spontaneous abortion with hydropic placental changes. However, lack of high-velocity signals inside the lesion and a normal karyotype favor a diagnosis of PMD. PMD must be differentiated from gestational trophoblastic disease because management and outcomes differ. We report the case of an 18-year-old female at 15 weeks of gestation with sonographic findings suggestive of placental mesenchymal dysplasia. The diagnosis was confirmed on histopathology.

  13. REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS

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    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.

  14. Arrhythmogenic right ventricular dysplasia: Atypical clinical presentation.

    Science.gov (United States)

    Marçalo, José; Menezes Falcão, Luiz

    2017-03-01

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

  15. Canine hip dysplasia is predictable by genotyping.

    Science.gov (United States)

    Guo, G; Zhou, Z; Wang, Y; Zhao, K; Zhu, L; Lust, G; Hunter, L; Friedenberg, S; Li, J; Zhang, Y; Harris, S; Jones, P; Sandler, J; Krotscheck, U; Todhunter, R; Zhang, Z

    2011-04-01

    To establish a predictive method using whole genome genotyping for early intervention in canine hip dysplasia (CHD) risk management, for the prevention of the progression of secondary osteoarthritis (OA), and for selective breeding. Two sets of dogs (six breeds) were genotyped with dense SNPs covering the entire canine genome. The first set contained 359 dogs upon which a predictive formula for genomic breeding value (GBV) was derived by using their estimated breeding value (EBV) of the Norberg angle (a measure of CHD) and their genotypes. To investigate how well the formula would work for an individual dog with genotype only (without using EBV), a cross validation was performed by masking the EBV of one dog at a time. The genomic data and the EBV of the remaining dogs were used to predict the GBV for the single dog that was left out. The second set of dogs included 38 new Labrador retriever dogs, which had no pedigree relationship to the dogs in the first set. The cross validation showed a strong correlation (R>0.7) between the EBV and the GBV. The independent validation showed a moderate correlation (R=0.5) between GBV for the Norberg angle and the observed Norberg angle (no EBV was available for the new 38 dogs). Sensitivity, specificity, positive and negative predictive values of the genomic data were all above 70%. Prediction of CHD from genomic data is feasible, and can be applied for risk management of CHD and early selection for genetic improvement to reduce the prevalence of CHD in breeding programs. The prediction can be implemented before maturity, at which age current radiographic screening programs are traditionally applied, and as soon as DNA is available. Copyright © 2010 Osteoarthritis Research Society International. Published by Elsevier Ltd. All rights reserved.

  16. Canine Hip Dysplasia is Predictable by Genotyping

    Science.gov (United States)

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

    2011-01-01

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

  17. Docosahexaenoic Acid and Bronchopulmonary Dysplasia in Preterm Infants.

    Science.gov (United States)

    Collins, Carmel T; Makrides, Maria; McPhee, Andrew J; Sullivan, Thomas R; Davis, Peter G; Thio, Marta; Simmer, Karen; Rajadurai, Victor S; Travadi, Javeed; Berry, Mary J; Liley, Helen G; Opie, Gillian F; Tan, Kenneth; Lui, Kei; Morris, Scott A; Stack, Jacqueline; Stark, Michael J; Chua, Mei-Chien; Jayagobi, Pooja A; Holberton, James; Bolisetty, Srinivas; Callander, Ian R; Harris, Deborah L; Gibson, Robert A

    2017-03-30

    Studies in animals and in humans have suggested that docosahexaenoic acid (DHA), an n-3 long-chain polyunsaturated fatty acid, might reduce the risk of bronchopulmonary dysplasia, but appropriately designed trials are lacking. We randomly assigned 1273 infants born before 29 weeks of gestation (stratified according to sex, gestational age [bronchopulmonary dysplasia, defined on a physiological basis (with the use of oxygen-saturation monitoring in selected infants), at 36 weeks of postmenstrual age or discharge home, whichever occurred first. A total of 1205 infants survived to the primary outcome assessment. Of the 592 infants assigned to the DHA group, 291 (49.1% by multiple imputation) were classified as having physiological bronchopulmonary dysplasia, as compared with 269 (43.9%) of the 613 infants assigned to the control group (relative risk adjusted for randomization strata, 1.13; 95% confidence interval [CI], 1.02 to 1.25; P=0.02). The composite outcome of physiological bronchopulmonary dysplasia or death before 36 weeks of postmenstrual age occurred in 52.3% of the infants in the DHA group and in 46.4% of the infants in the control group (adjusted relative risk, 1.11; 95% CI, 1.00 to 1.23; P=0.045). There were no significant differences between the two groups in the rates of death or any other neonatal illnesses. Bronchopulmonary dysplasia based on a clinical definition occurred in 53.2% of the infants in the DHA group and in 49.7% of the infants in the control group (P=0.06). Enteral DHA supplementation at a dose of 60 mg per kilogram per day did not result in a lower risk of physiological bronchopulmonary dysplasia than a control emulsion among preterm infants born before 29 weeks of gestation and may have resulted in a greater risk. (Funded by the Australian National Health and Medical Research Council and others; Australian New Zealand Clinical Trials Registry number, ACTRN12612000503820 .).

  18. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

    Directory of Open Access Journals (Sweden)

    MacKie Iain

    2008-11-01

    Full Text Available Abstract The hereditary dentine disorders, dentinogenesis imperfecta (DGI and dentine dysplasia (DD, comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear. Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD-1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP, suggesting that these conditions are allelic. Diagnosis is based on family history, pedigree construction and detailed clinical examination, while genetic diagnosis may become useful in the future once sufficient disease-causing mutations have been discovered. Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome, permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a

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

    Directory of Open Access Journals (Sweden)

    Arzu Tay

    2013-04-01

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

  20. 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.

  1. 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.

  2. Florid Cement Osseous Dysplasia and Chronic Diffuse Osteomyelitis in Maxilla

    Directory of Open Access Journals (Sweden)

    Mahnaz Saheb-Jamee

    2013-01-01

    Full Text Available Chronic diffuse osteomyelitis is an intermodular bone infection which may be resulted from a localized osteitis, previous acute osteomyelitis or prior infective processes. Florid cement-osseous dysplasia brings about a change in perfusion and in case of infection will pave the way for osteomyelitis. Complaining of chronic pain and pus drainage, a patient referred to the center of oral diseases for removing the right maxillary first molar and was diagnosed with chronic diffuse osteomyelitis in florid cement-osseous dysplasia. Bone expansion of all four quadrants of the jaws, pain, pus drainage, sinus involvement made this patient unusual (abnormal.

  3. Whole-brain MRI phenotyping in dysplasia-related frontal lobe epilepsy.

    Science.gov (United States)

    Hong, Seok-Jun; Bernhardt, Boris C; Schrader, Dewi S; Bernasconi, Neda; Bernasconi, Andrea

    2016-02-16

    To perform whole-brain morphometry in patients with frontal lobe epilepsy and evaluate the utility of group-level patterns for individualized diagnosis and prognosis. We compared MRI-based cortical thickness and folding complexity between 2 frontal lobe epilepsy cohorts with histologically verified focal cortical dysplasia (FCD) (13 type I; 28 type II) and 41 closely matched controls. Pattern learning algorithms evaluated the utility of group-level findings to predict histologic FCD subtype, the side of the seizure focus, and postsurgical seizure outcome in single individuals. Relative to controls, FCD type I displayed multilobar cortical thinning that was most marked in ipsilateral frontal cortices. Conversely, type II showed thickening in temporal and postcentral cortices. Cortical folding also diverged, with increased complexity in prefrontal cortices in type I and decreases in type II. Group-level findings successfully guided automated FCD subtype classification (type I: 100%; type II: 96%), seizure focus lateralization (type I: 92%; type II: 86%), and outcome prediction (type I: 92%; type II: 82%). FCD subtypes relate to diverse whole-brain structural phenotypes. While cortical thickening in type II may indicate delayed pruning, a thin cortex in type I likely results from combined effects of seizure excitotoxicity and the primary malformation. Group-level patterns have a high translational value in guiding individualized diagnostics. © 2016 American Academy of Neurology.

  4. The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness

    Directory of Open Access Journals (Sweden)

    Kristina Narfström

    2011-01-01

    Full Text Available Large mammals, including canids and felids, are affected by spontaneously occurring hereditary retinal diseases with similarities to those of humans. The large mammal models may be used for thorough clinical characterization of disease processes, understanding the effects of specific mutations, elucidation of disease mechanisms, and for development of therapeutic intervention. Two well-characterized feline models are addressed in this paper. The first model is the autosomal recessive, slowly progressive, late-onset, rod-cone degenerative disease caused by a mutation in the CEP290 gene. The second model addressed in this paper is the autosomal dominant early onset rod cone dysplasia, putatively caused by the mutation found in the CRX gene. Therapeutic trials have been performed mainly in the former type including stem cell therapy, retinal transplantation, and development of ocular prosthetics. Domestic cats, having large human-like eyes with comparable spontaneous retinal diseases, are also considered useful for gene replacement therapy, thus functioning as effective model systems for further research.

  5. Canine Hip Dysplasia: A Natural Animal Model for Human Developmental Dysplasia of the Hip.

    Science.gov (United States)

    Pascual-Garrido, Cecilia; Guilak, Farshid; Rai, Muhammad Farooq; Harris, Michael D; Lopez, Mandi J; Todhunter, Rory J; Clohisy, John C

    2017-12-11

    Developmental dysplasia of the hip (DDH) in humans is a common condition that is associated with hip pain, functional limitations, and secondary osteoarthritis (OA). Surgical treatment of DDH has improved in the last decade, allowing excellent outcomes at short- and mid-term follow-up. Still, the etiology, mechanobiology, and pathology underlying this disease are not well understood. A pre-clinical animal model of DDH could help advance the field with a deeper understanding of specific pathways that initiate hip joint degeneration secondary to abnormal biomechanics. An animal model would also facilitate different interventional treatments that could be tested in a rigorous, controlled environment. The dog model exhibits several important characteristics that make it valuable as a pre-clinical animal model for human DDH. Dogs are naturally prone to develop canine hip dysplasia (CHD), which is treated in a similar manner as in humans. Comparable to human DDH, CHD is considered a pre-OA disease; if left untreated it will progress to OA. However, progression to OA is significantly faster in dogs than humans, with progression to OA within one to two years of age, due to their shorter life span compared to humans. Animal studies could potentially reveal the underlying biochemical pathway(s), which can inform refined treatment modalities and provide opportunities for new treatment and prevention targets. Herein, we review the similarities and differences between the two species and outline the argument supporting CHD as an appropriate pre-clinical model of human DDH. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  6. Molecular analysis of retinal fascin gene 2 (FSCN2), a candidate gene for progressive rod-cone degeneration in dogs

    Czech Academy of Sciences Publication Activity Database

    Horák, Pavel; Knoll, Aleš

    2006-01-01

    Roč. 9, Mimoriadne číslo (2006), s. 62-64 ISSN 1335-258X. [XXII. dni genetiky. 12.09.2006-14.09.2006, Nitra] Institutional research plan: CEZ:AV0Z50450515 Keywords : pig * polymorphism * LEPR and H-FABP genes Subject RIV: EB - Genetics ; Molecular Biology

  7. 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. © 2016 The Author(s).

  8. Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

    Directory of Open Access Journals (Sweden)

    Shuji Mizumoto

    2015-01-01

    Full Text Available Glycosaminoglycans, including chondroitin, dermatan, and heparan sulfate, have various roles in a wide range of biological events such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors. Their polysaccharides covalently attach to the serine residues on specific core proteins through the common linker region tetrasaccharide, -xylose-galactose-galactose-glucuronic acid, which is produced through the stepwise addition of respective monosaccharides by four distinct glycosyltransferases. Mutations in the human genes encoding the glycosyltransferases responsible for the biosynthesis of the linker region tetrasaccharide cause a number of genetic disorders, called glycosaminoglycan linkeropathies, including Desbuquois dysplasia type 2, spondyloepimetaphyseal dysplasia, Ehlers-Danlos syndrome, and Larsen syndrome. This review focused on recent studies on genetic diseases caused by defects in the biosynthesis of the common linker region tetrasaccharide.

  9. Autosomal dominant frontonasal dysplasia (atypical Greig syndrome): Lessons from the Xt mutant mouse

    Energy Technology Data Exchange (ETDEWEB)

    Cunningham, M.L.; Nunes, M.E. [Univ. of Washington, Seattle, WA (United States)

    1994-09-01

    Greig syndrome is the autosomal dominant association of mild hypertelorism, variable polysyndactyly, and normal intelligence. Several families have been found to have translocations or deletions of 7p13 interrupting the normal expression of GLI3 (a zinc finger, DNA binding, transcription repressor). Recently, a mutation in the mouse homologue of GLI3 was found in the extra-toes mutant mouse (Xt). The phenotypic features of this mouse model include mild hypertelorism, postaxial polydactyly of the forelimbs, preaxial polydactyly of the hindlimbs, and variable tibial hemimelia. The homozygous mutant Xt/Xt have severe frontonasal dysplasia (FND), polysyndactyly of fore-and hindlimbs and invariable tibial hemimelia. We have recently evaluated a child with severe (type D) frontonasal dysplasia, fifth finger camptodactyly, preaxial polydactyly of one foot, and ispilateral tibial hemimelia. His father was born with a bifid nose, broad columnella, broad feet, and a two centimeter leg length discrepancy. The paternal grandmother of the proband is phenotypically normal; however, her fraternal twin died at birth with severe facial anomalies. The paternal great-grandmother of the proband is phenotypically normal however her niece was born with moderate ocular hypertelorism. This pedigree is suggestive of an autosomal dominant form of frontonasal dysplasia with variable expressivity. The phenotypic features of our case more closely resemble the Xt mouse than the previously defined features of Greig syndrome in humans. This suggests that a mutation in GLI3 may be responsible for FND in this family. We are currently using polymorphic dinucleotide repeat markers flanking GLI3 in a attempt to demonstrate linkage in this pedigree. Demonstration of a GLI3 mutation in this family would broaden our view of the spectrum of phenotypes possible in Greig syndrome and could provide insight into genotype/phenotype correlation in FND.

  10. Hospital costs of total hip arthroplasty for developmental dysplasia of the hip.

    Science.gov (United States)

    Ashraf, Ali; Larson, A Noelle; Maradit-Kremers, Hilal; Kremers, Walter K; Lewallen, David G

    2014-07-01

    Developmental dysplasia of the hip (DDH) is a leading cause of total hip arthroplasty (THA) in younger patients. It is unknown how the hospital costs of THA in patients with DDH compare with patients with degenerative arthritis. We undertook this study to determine (1) the hospital cost and length of stay associated with primary THA in patients with dysplasia compared with nondysplastic control subjects; (2) the hospital cost and length of stay of THA in severely dysplastic hips compared with mildly dysplastic hips; and (3) perioperative complications in patients with DDH compared with patients without dysplasia. This matched-cohort study included 354 patients undergoing primary THA for DDH and 1029 age-, sex-, and calendar year-matched patients undergoing THA for primary osteoarthritis between 2000 and 2008. DDH severity was measured by the Crowe classification. An institutional database was used to calculate the cost of care. Using line item details (date, type, frequency, and billed charge) for every procedure or service billed at our institution for each patient, bottom-up microcosting valuation techniques were used to generate standardized inflation-adjusted estimates of the cost of each service or procedure in constant dollars. Generalized linear random effects models were used to compare length of stay and costs during hospitalization and the 90-day period after surgery. Query of a longitudinal institutional database was used to identify documented complications. Patients with DDH undergoing primary THA incurred higher hospital costs than patients with primary osteoarthritis (USD 16,949 versus USD 16,485, p = 0.012). Operating room costs (USD 3471 versus USD 3417, p = 0.0085) and implant costs (USD 3896 versus USD 3493, p economic and decision analyses. See Guidelines for Authors for a complete description of levels of evidence.

  11. Hereditary Hemorrhagic Telangiectasia, a Vascular Dysplasia Affecting the TGF-β Signaling Pathway

    Science.gov (United States)

    Fernández-L, Africa; Sanz-Rodriguez, Francisco; Blanco, Francisco J.; Bernabéu, Carmelo; Botella, Luisa M.

    2006-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in endoglin (ENG; HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia. Clinically, HHT is characterized by epistaxis, telangiectases and arteriovenous malformations in some internal organs such as the lung, brain or liver. Endoglin and ALK1 proteins are specific endothelial receptors of the transforming growth factor (TGF)-β superfamily that are essential for vascular integrity. Genetic studies in mice and humans have revealed the pivotal role of TGF-β signaling during angiogenesis. Through binding to the TGF-β type II receptor, TGF-β can activate two distinct type I receptors (ALK1 and ALK5) in endothelial cells, each one leading to opposite effects on endothelial cell proliferation and migration. The recent isolation and characterization of circulating endothelial cells from HHT patients has revealed a decreased endoglin expression, impaired ALK1- and ALK5-dependent TGF-β signaling, disorganized cytoskeleton and the failure to form cord-like structures which may lead to the fragility of small vessels with bleeding characteristic of HHT vascular dysplasia or to disrupted and abnormal angiogenesis after injuries and may explain the clinical symptoms associated with this disease. PMID:16595794

  12. Generation and Characterization of Function-blocking Anti-ectodysplasin A (EDA) Monoclonal Antibodies That Induce Ectodermal Dysplasia*

    Science.gov (United States)

    Kowalczyk-Quintas, Christine; Willen, Laure; Dang, Anh Thu; Sarrasin, Heidi; Tardivel, Aubry; Hermes, Katharina; Schneider, Holm; Gaide, Olivier; Donzé, Olivier; Kirby, Neil; Headon, Denis J.; Schneider, Pascal

    2014-01-01

    Development of ectodermal appendages, such as hair, teeth, sweat glands, sebaceous glands, and mammary glands, requires the action of the TNF family ligand ectodysplasin A (EDA). Mutations of the X-linked EDA gene cause reduction or absence of many ectodermal appendages and have been identified as a cause of ectodermal dysplasia in humans, mice, dogs, and cattle. We have generated blocking antibodies, raised in Eda-deficient mice, against the conserved, receptor-binding domain of EDA. These antibodies recognize epitopes overlapping the receptor-binding site and prevent EDA from binding and activating EDAR at close to stoichiometric ratios in in vitro binding and activity assays. The antibodies block EDA1 and EDA2 of both mammalian and avian origin and, in vivo, suppress the ability of recombinant Fc-EDA1 to rescue ectodermal dysplasia in Eda-deficient Tabby mice. Moreover, administration of EDA blocking antibodies to pregnant wild type mice induced in developing wild type fetuses a marked and permanent ectodermal dysplasia. These function-blocking anti-EDA antibodies with wide cross-species reactivity will enable study of the developmental and postdevelopmental roles of EDA in a variety of organisms and open the route to therapeutic intervention in conditions in which EDA may be implicated. PMID:24391090

  13. 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

  14. Increased nuclear ?-catenin expression in oral potentially malignant lesions: A marker of epithelial dysplasia

    Science.gov (United States)

    Rojas-Alcayaga, Gonzalo; Maturana, Andrea; Aitken, Juan-Pablo; Rojas, Carolina; Ortega, Ana-Verónica

    2015-01-01

    Background Deregulation of ?-catenin is associated with malignant transformation; however, its relationship with potentially malignant and malignant oral processes is not fully understood. The aim of this study was to determine and compare the nuclear ?-catenin expression in oral dysplasia and oral squamous cell carcinoma (OSCC). Material and Methods Cross sectional study. Immunodetection of ?-catenin was performed on 72 samples, with the following distribution: 21 mild dysplasia, 12 moderate dysplasia, severe dysplasia 3, 36 OSCC including 19 well differentiated, 15 moderately differentiated and 2 poorly differentiated. Through microscopic observation the number of positive cells per 1000 epithelial cells was counted. For the statistical analysis, the Kruskal Wallis test was used. Results Nuclear expression of ?-catenin was observed in all samples with severe and moderate dysplasia, with a median of 267.5, in comparison to mild dysplasia whose median was 103.75. Only 10 samples (27.7%) with OSCC showed nuclear expression, with statistically significant differences between groups (p < 0.05). Conclusions Our results are consistent with most of the reports which show increased presence of ?-catenin in severe and moderate dysplasia compared to mild dysplasia; however the expression of nuclear ?-catenin decreased after starting the invasive neoplastic process. This suggests a role for this protein in the progression of dysplasia and early malignant transformation to OSCC. Immunodetection of ?-catenin could be a possible immune marker in the detection of oral dysplasia. Key words:Oral squamous cell carcinoma (OSCC), ?-catenin, oral dysplasia. PMID:26241451

  15. Laryngeal papillomatosis associated dysplasia in the adult population: an update on prevalence and HPV subtyping.

    Science.gov (United States)

    Davids, Taryn; Muller, Susan; Wise, Justin C; Johns, Michael M; Klein, Adam

    2014-06-01

    The objectives were to determine the prevalence of laryngeal dysplasia and associated human papilloma virus (HPV) subtypes in adult patients, 18 years or older, suffering from laryngeal papillomatosis at a tertiary care institution. Retrospective cohort study. Patients with biopsy proven laryngeal papillomatosis were identified via chart review. All available pathology specimens were reviewed by a dedicated head and neck pathologist to confirm/refute the diagnosis of laryngeal dysplasia, and grade the level of dysplasia. Interrater agreement was compared using cross-tabulation methods. Specimens identified to be positive for dysplasia underwent further testing via in situ hybridization for low-risk (6/11) or high-risk (16/18) HPV subtypes. Of the 85 subjects identified to have laryngeal papillomatosis, 24(28%) demonstrated laryngeal dysplasia. There was good interrater agreement on the presence of dysplasia; however, there was only fair agreement on the grade of dysplasia. Of the pathology specimens tested for HPV subtype, the majority of patients (62%) were positive for HPV 6/11, including all high-grade dysplasia patients. Three (12%) dysplasia specimens were negative for both high- and low-risk HPV subtypes. We found a 28% prevalence of dysplasia in our patient population with the majority of patients positive for low-risk HPV subtypes indicating that high-risk HPV subtypes do not predispose laryngeal papilloma patients to dysplasia.

  16. Echocardiographic evaluation of right ventricular function in preterm infants with bronchopulmonary dysplasia.

    Science.gov (United States)

    Bokiniec, Renata; Własienko, Paweł; Borszewska-Kornacka, Maria; Szymkiewicz-Dangel, Joanna

    2017-04-01

    To evaluate right ventricular function in preterm infants with and without bronchopulmonary dysplasia. Eighty-nine preterm infants (bronchopulmonary dysplasia (n=32); (2) mild-bronchopulmonary dysplasia (n=35); (3) severe-bronchopulmonary dysplasia (n=15). Right ventricular echocardiographic parameters included the following: (1) pulsed-wave Doppler through the tricuspid valve (E/A ratio), pulmonary artery acceleration time, right ventricular ejection time, right ventricular velocity-time integral; (2) tissue Doppler measurements of myocardial velocities and atrioventricular conduction times; (3) pulsed-wave Doppler and tissue Doppler evaluation of myocardial performance index and E/E' ratio; and (4) M-mode detection of right ventricular end-diastolic wall diameter. The severe-bronchopulmonary dysplasia group had higher mean right ventricular myocardial performance index (on the 28th day of life by pulsed-wave Doppler) than the no-bronchopulmonary dysplasia (P=.014) or mild-bronchopulmonary dysplasia (P=.031) groups; no differences were found between no-bronchopulmonary dysplasia and mild-bronchopulmonary dysplasia groups (P=.919). A reduction in right ventricular myocardial performance index at later time points was observed in all three groups (Pbronchopulmonary dysplasia severity in other right ventricular echocardiographic parameters. Right ventricular myocardial performance index measured by pulsed-wave Doppler indicates impaired right ventricular function in preterm infants with severe bronchopulmonary dysplasia. © 2017, Wiley Periodicals, Inc.

  17. Autosomal dominant frontometaphyseal dysplasia : Delineation of the clinical phenotype

    NARCIS (Netherlands)

    Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Ades, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.

    Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who

  18. 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.)

  19. Monostotic Fibrous Dysplasia of the Rib: A Case Report

    Directory of Open Access Journals (Sweden)

    Asha Mahadevappa

    2012-01-01

    Full Text Available Fibrous dysplasia is a noninherited bone disease in which abnormal differentiation of osteoblasts leads to replacement of normal marrow and cancellous bone by immature bone with fibrous stroma. Monostotic fibrous dysplasia accounts for 28% in the ribs. It is often asymptomatic and incidentally detected on radiographs. As with many bone abnormalities, it can be superimposed by the formation of aneurysmal bone cysts. We report a case of a 70-year-old lady who presented with swelling on the chest wall of 20-ear duration and sudden increase in size for 8 months. Radiologically, X-ray and CT scan showed an expansible lesion of the medullary cavity with a ground-glass centre and thinning of cortex of the 5th rib. The resected lesion was a firm, well-defined solid, grey-white expansile mass replacing the medullary cavity. Histopathologically, benign fibrous spindle areas with disorganized irregular bony trabeculae were seen. Hemorrhagic spaces lined by osteoclast-like multinucleated giant cells were also noted. The diagnosis was fibrous dysplasia with aneurysmal bone cyst changes. Although fibrous dysplasia with aneurysmal bone cyst is rare, it should be taken into account in differential diagnosis of the rapidly growing solitary rib lesion.

  20. [New surgical treatment of late-stage neuromuscular ureteral dysplasia].

    Science.gov (United States)

    Lopatkin, N A; Zhitnikova, L H; Berestennikov, K A

    1999-01-01

    A surgical treatment of neuromuscular ureteral, dysplasia (NUD) is proposed which provides development of restenosis in vesicoureteral anastomosis and vesicoureteral reflux in maintenance of normal urodynamics of the upper urinary tracts. This organ-saving method can be applied at late disease. Multichannel impedance ureterography proved useful in definition of the operation's scope.

  1. Prevalence of Cervical Dysplasia and Associated Risk Factors ...

    African Journals Online (AJOL)

    Prevalence of Cervical Dysplasia and Associated Risk Factors among Women Presenting at a Primary Care Clinic in Nigeria. ... cancer screening amongst patients of the Primary Care Clinic at UCH, Ibadan, towards justifying expansion of cervical cancer screening service points in tertiary health institutions in Nigeria.

  2. Endoscopic Therapeutic Approach for Dysplasia in Inflammatory Bowel Disease.

    Science.gov (United States)

    Hong, Sung Noh

    2017-09-01

    Long-standing intestinal inflammation in patients with inflammatory bowel disease (IBD) induces dysplastic change in the intestinal mucosa and increases the risk of subsequent colorectal cancer. The evolving endoscopic techniques and technologies, including dye spraying methods and high-definition images, have been replacing random biopsies and have been revealed as more practical and efficient for detection of dysplasia in IBD patients. In addition, they have potential usefulness in detailed characterization of lesions and in the assessment of endoscopic resectability. Most dysplastic lesions without an unclear margin, definite ulceration, non-lifting sign, and high index of malignant change with suspicion for lymph node or distant metastases can be removed endoscopically. However, endoscopic resection of dysplasia in chronic IBD patients is usually difficult because it is often complicated by submucosal fibrosis. In patients with dysplasias that demonstrate submucosa fibrosis or a large size (≥20 mm), endoscopic submucosal dissection (ESD) or ESD with snaring (simplified or hybrid ESD) is an alternative option and may avoid a colectomy. However, a standardized endoscopic therapeutic approach for dysplasia in IBD has not been established yet, and dedicated specialized endoscopists with interest in IBD are needed to fully investigate recent emerging techniques and technologies.

  3. Case for diagnosis: (Ectodermal dysplasia: Christ-Siemens-Touraine syndrome).

    Science.gov (United States)

    Succi, Isabella Brasil; Fontenelle, Elisa

    2009-01-01

    Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.

  4. CASE REPORT OF SPONDYLOEPIPHYSEAL DYSPLASIA SECONDARY TO CONGINETAL HYPOTHYROIDISM

    OpenAIRE

    Jhatoth; Tandra; Ramkumar Reddy; Srinivas Yadav

    2014-01-01

    BACKGROUND: Spondyloepiphyseal dysplasia as a sign of untreated congenital hypothyroidism is rare nowadays due to implementation of neonatal screening and increased awareness of pediatricians to detect hypothyroidism earlier. But neonatal screening is not routinely done in the developing countries. Congenital hypothyroidism is still unrecognized in some parts of developing world. OBJECTIVE: To describe the clinical, radiographic features and to stress the importance of scr...

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

    Science.gov (United States)

    ... between vertebrae, and an abnormal curvature of the spine ( scoliosis or kyphosis ). Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to ... Information What does it mean if a ...

  6. 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.

  7. POSTNATAL INFLAMMATION IN THE PATHOGENESIS OF BRONCHOPULMONARY DYSPLASIA

    Science.gov (United States)

    Bhandari, Vineet

    2014-01-01

    Exposure to hyperoxia, invasive mechanical ventilation and systemic/local sepsis are important antecedents of postnatal inflammation in the pathogenesis of bronchopulmonary dysplasia (BPD). This review will summarize information obtained from animal (baboon, lamb/sheep, rat and mouse) models that pertain to the specific inflammatory agents and signaling molecules that predispose a premature infant to BPD. PMID:24578018

  8. Speech and Language Outcomes of Children with Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Lewis, Barbara A.; Singer, Lynn T.; Fulton, Sarah; Salvator, Ann; Short, Elizabeth J.; Klein, Nancy; Baley, Jill

    2002-01-01

    A study of very low birth weight babies with (n=89) and without (n=71) bronchopulmonary dysplasia (BPD) and term controls was conducted at age 8. The BPD group demonstrated reduced articulation, receptive language skills, performance IQ, and gross and fine motor skills, and almost half were enrolled in speech-language therapy. (Contains…

  9. Roentgenographic aspects of idiopathic respiratory distress syndrome and bronchopulmonary dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Arlart, I.P.

    1982-03-01

    The present article gives a review about roentgenographic findings of the chest in indiopathic respiratory distress syndrome of the newborn and in bronchopulmonary dysplasia. In addition to etiological factors particularly a systematic of typical signs in both diseases and possibility of complications and differential diagnosis is presented.

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

    NARCIS (Netherlands)

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

    2016-01-01

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

  11. Unilateral Closed Lip Schizencephaly with Septo‑Optic Dysplasia ...

    African Journals Online (AJOL)

    ... be associated with septo‑optic dysplasia (SOD), optic nerve hypoplasia and absence of septum pellucidum, pachygyria, polymicrogyria, heterotopia and arachnoid cysts. We report a case of unilateral closed lip schizencephaly with SOD. Keywords: Absence of septum pellucidum, Optic nerve hypoplasia, Schizencephaly, ...

  12. Vojta method in the treatment of developmental hip dysplasia – a case report

    Directory of Open Access Journals (Sweden)

    Kiebzak W

    2016-08-01

    Full Text Available Wojciech Kiebzak,1,2 Arkadiusz Żurawski,2 Michał Dwornik3 1Center for Pediatrics, Regional Hospital in Kielce, Kielce, Poland; 2Department of Physiotherapy, Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland; 3Department of Osteopathic Medicine and Physiotherapy, Medical College of Podkowa Lesna, Podkowa Lesna, Poland Background: Developmental dysplasia of the hip joint is one of the most common congenital defects and often results in functional and structural disorders. Such cases particularly demand optimizing therapeutic effects and maximally reducing the duration of therapy. Purpose: The aim of this case report is to present the therapeutic process in a child with developmental hip dysplasia. Case report: This is a case report of a female child with a birth weight of 2,800 g and an Apgar score of 9 points born to a gravida 3 para 3 mother at 37 weeks. The child was delivered by cesarean section, and the pregnancy was complicated by oligohydramnios. Subluxation of the left hip joint was diagnosed by an orthopedist in the third month of life. The treatment followed was the Vojta method (the first phase of reflex turning and reflex crawling. Results: During the 6 weeks of the Vojta treatment, the left half of the femoral head was centralized, and the process of formation of the hip joint acetabulum was influenced effectively enough to change the acetabulum’s Graff type from the baseline D to IIb after 41 days of treatment. Conclusion: The diagnostic work-up of congenital hip joint dysplasia should involve a physiotherapist who will investigate the child’s neuro­muscular coordination, in addition to a neonatologist and a pediatrician. The therapy for a disorder of hip joint development of neuromotor origin should involve the application of global patterns according to Vojta. Children with congenital dysplasia of the hip joint should commence rehabilitation as early as possible. Keywords: global pattern

  13. A Traffic Light Grading System of Hip Dysplasia to Predict the Success of Arthroscopic Hip Surgery.

    Science.gov (United States)

    Grammatopoulos, George; Davies, Owain L I; El-Bakoury, Ahmed; Gill, Harinderjit S; Pollard, Tom C B; Andrade, Antonio J

    2017-10-01

    The role of hip arthroscopic surgery in dysplasia is controversial. To determine the 7-year joint preservation rate after hip arthroscopic surgery in hip dysplasia and identify anatomic and intraoperative features that predict the success of hip preservation with arthroscopic surgery, allowing the formulation of an evidence-based classification system. Case-control study; Level of evidence, 3. Between 2008 and 2013, 111 hips with dysplastic features (acetabular index [AI] >10° and/or lateral center-edge angle [LCEA] arthroscopic surgery were identified. Clinical, radiological, and operative findings and the type of procedure performed were reviewed. Radiographic evaluations of the operated hip (AI, LCEA, extrusion index) were performed. Outcome measures included whether the hip was preserved (ie, did not require arthroplasty) at follow-up and the preoperative and postoperative Non-Arthritic Hip Score (NAHS) and Hip disability and Osteoarthritis Outcome Score (HOOS). The AI and LCEA were calculated, factored by a measure of articular wear (AIf and LCEAf, respectively), according to the University College Hospital, London (UCL) grading system as follows: AIf = AI × (number of UCL wear zones + 1), and LCEAf = LCEA / (number of UCL wear zones + 1). A contour plot of the resulting probability value of failure for every combination of AIf and LCEAf allowed for the determination of the zones with the lowest and highest incidences of failure to preserve the hip. The mean AI and LCEA were 9.8° and 18.0°, respectively. At a mean follow-up of 4.5 years (range, 0.4-8.3 years), 33 hips had failed, requiring hip arthroplasty. The 7-year joint survival rate was 68%. The mean improvements in the NAHS and HOOS were 11 ( P = .001) and 22.8 ( P arthroscopic surgery is associated with an excellent chance of hip preservation in mild dysplasia (green zone: AI = 0°-15°, LCEA = 15°-25°) and no articular wear. The authors advise that the greatest caution should be used when

  14. 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

  15. 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,

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

    NARCIS (Netherlands)

    Lavrijsen, Ineke; Heuven, Henri; Meij, Bjorn; Theyse, Lars; Nap, R.C.; Leegwater, Peter; Hazewinkel, Herman

    2014-01-01

    tHip as well as elbow dysplasia (HD, ED) are developmental disorders leading to malforma-tion of their respective joints. For a long time both disorders have been scored and targetedfor improvement using selective breeding in several Dutch dog populations. In this paperall scores for both HD and ED,

  17. A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.

    Science.gov (United States)

    Kimura-Ohba, Shihoko; Kagitani-Shimono, Kuriko; Hashimoto, Natsuko; Nabatame, Shin; Okinaga, Takeshi; Murakami, Akira; Miyake, Noriko; Matsumoto, Naomichi; Osaka, Hitoshi; Hojo, Keiko; Tomita, Reiko; Taniike, Masako; Ozono, Keiichi

    2013-01-01

    We reported on a male patient with rare leukoencephalopathy and skeletal abnormalities. The condition was first noticed as a developmental delay, nystagmus and ataxia at 1 year of age. At 4 years of age, he was diagnosed as hypomyelination with skeletal abnormalities from clinical features, brain magnetic resonance imaging (MRI) and skeletal X-rays. His brain MRI revealed diffuse hypomyelination. These findings suggested the classical type of Pelizaeus-Merzbacher disease (PMD) caused by proteolipid protein (PLP)-1 gene or Pelizaeus-Merzbacher-like disease (PMLD). However, we found neither mutation nor duplication of PLP-1. The patient had severe growth retardation and general skeletal dysplasia compatible with spondylo-epi-metaphyseal dysplasia; however the mutation of discoidin domain receptor (DDR) 2 gene was absent. The co-morbidity of hypomyelination with skeletal abnormalities is rare. We performed array CGH and no causal copy number variation was recognized. Alternatively, this condition may have been caused by a mutation of the gene encoding a molecule that functions in both cerebral myelination and skeletal development. Copyright © 2012 Wiley Periodicals, Inc.

  18. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

    Directory of Open Access Journals (Sweden)

    Ying Hu

    Full Text Available Craniometaphyseal dysplasia (CMD is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln in the C-terminus of the gap junction protein alpha-1 (GJA1 coding for connexin 43 (Cx43. We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850 and isolated syndactyly type III (MIM #186100, the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated.

  19. Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs

    Science.gov (United States)

    Lewis, JR; Reiter, AM; Mauldin, EA; Casal, ML

    2009-01-01

    Objectives X-linked hypohidrotic ectodermal dysplasia (XLHED) occurs in several species, including humans, mice, cattle and dogs. The orofacial manifestations of ectodermal dysplasia in humans and mice have been extensively studied, but documentation of dental abnormalities in dogs is lacking. The current study describes the results of clinical and radiographic examinations of XLHED-affected dogs and demonstrates profound similarities to findings of XLHED-affected humans. Setting and sample population Section of Medical Genetics at the University of Pennsylvania, School of Veterinary Medicine. Clinical and radiographic oral examinations were performed on 17 dogs with XLHED, 3 normal dogs, and 2 dogs heterozygous for XLHED. Materials and methods The prevalence and severity of orofacial and dental abnormalities were evaluated by means of a sedated examination, photographs, and full-mouth intraoral radiographs. Results Crown and root abnormalities were common in dogs affected by XLHED, including hypodontia, oligodontia, conical crown shape, decreased number of cusps, decreased number of roots, and dilacerated roots. Persistent deciduous teeth were frequently encountered. Malocclusion was common, with Angle Class I mesioversion of the maxillary and/or mandibular canine teeth noted in 15 of 17 dogs. Angle Class III malocclusion (maxillary brachygnathism) was seen in one affected dog. Conclusion Dental abnormalities are common and severe in dogs with XLHED. Dental manifestations of canine XLHED share characteristics of brachyodont tooth type and diphyodont dentition, confirming this species to be an orthologous animal model for study of human disease. PMID:20078794

  20. Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs.

    Science.gov (United States)

    Lewis, J R; Reiter, A M; Mauldin, E A; Casal, M L

    2010-02-01

    X-linked hypohidrotic ectodermal dysplasia (XLHED) occurs in several species, including humans, mice, cattle and dogs. The orofacial manifestations of ectodermal dysplasia in humans and mice have been extensively studied, but documentation of dental abnormalities in dogs is lacking. The current study describes the results of clinical and radiographic examinations of XLHED-affected dogs and demonstrates profound similarities to findings of XLHED-affected humans. Section of Medical Genetics at the University of Pennsylvania, School of Veterinary Medicine. Clinical and radiographic oral examinations were performed on 17 dogs with XLHED, three normal dogs, and two dogs heterozygous for XLHED. The prevalence and severity of orofacial and dental abnormalities were evaluated by means of a sedated examination, photographs, and full-mouth intraoral radiographs. Crown and root abnormalities were common in dogs affected by XLHED, including hypodontia, oligodontia, conical crown shape, decreased number of cusps, decreased number of roots, and dilacerated roots. Persistent deciduous teeth were frequently encountered. Malocclusion was common, with Angle Class I mesioversion of the maxillary and/or mandibular canine teeth noted in 15 of 17 dogs. Angle Class III malocclusion (maxillary brachygnathism) was seen in one affected dog. Dental abnormalities are common and severe in dogs with XLHED. Dental manifestations of canine XLHED share characteristics of brachyodont tooth type and diphyodont dentition, confirming this species to be an orthologous animal model for study of human disease.

  1. Descriptive Epidemiology of Acetabular Dysplasia: The Academic Network of Conservational Hip Outcomes Research (ANCHOR) Periacetabular Osteotomy.

    Science.gov (United States)

    Sankar, Wudbhav N; Duncan, Stephen T; Baca, Geneva R; Beaulé, Paul E; Millis, Michael B; Kim, Young-Jo; Peters, Christopher L; Podeszwa, David A; Schoenecker, Perry L; Sierra, Rafael J; Sink, Ernest L; Sucato, Daniel J; Trousdale, Robert T; Zaltz, Ira; Clohisy, John C

    2017-02-01

    Periacetabular osteotomy (PAO) is an established treatment for symptomatic acetabular dysplasia, which is a well-recognized cause of hip pain, functional limitations, and secondary osteoarthritis. The purpose of this study was to describe the demographics of patients undergoing PAO, the baseline patient-reported outcome measures for this population, and the types of adjunctive procedures performed at the time of PAO surgery. Demographics, disease characteristics, and patient-reported functional measures were prospectively collected from all patients who underwent PAO performed by 12 surgeons from 2008 to 2013. We enrolled 950 consecutive patients (982 hips) in the study; 83% were female and 17% were male, with an average age of 25.3 years and an average body mass index (BMI) of 24.6 kg/m. Most patients were Caucasian (87%), and 15% had undergone previous hip surgery. Before PAO was performed, most patients had had symptoms for 1 to 3 years. Baseline modified Harris Hip and University of California Los Angeles activity scores (61.8 and 6.6, respectively) indicated that patients had considerable functional limitations. Patients undergoing PAO for symptomatic dysplasia were predominantly young, female, and Caucasian with a normal BMI. Many patients had undergone prior hip surgery, and most had had symptoms for several years before treatment. Baseline patient-reported functional scores demonstrated marked functional limitations. Adjunctive procedures for intra-articular pathology, especially femoral osteochondroplasty and hip arthroscopy, are commonly performed at the time of PAO.

  2. Hip dysplasia, pelvic obliquity, and scoliosis in cerebral palsy: a qualitative analysis using 3D CT reconstruction

    Science.gov (United States)

    Russ, Mark D.; Abel, Mark F.

    1998-06-01

    Five patients with cerebral palsy, hip dysplasia, pelvic obliquity, and scoliosis were evaluated retrospectively using three dimensional computed tomography (3DCT) scans of the proximal femur, pelvis, and lumbar spine to qualitatively evaluate their individual deformities by measuring a number of anatomical landmarks. Three dimensional reconstructions of the data were visualized, analyzed, and then manipulated interactively to perform simulated osteotomies of the proximal femur and pelvis to achieve surgical correction of the hip dysplasia. Severe deformity can occur in spastic cerebral palsy, with serious consequences for the quality of life of the affected individuals and their families. Controversy exists regarding the type, timing and efficacy of surgical intervention for correction of hip dysplasia in this population. Other authors have suggested 3DCT studies are required to accurately analyze acetabular deficiency, and that this data allows for more accurate planning of reconstructive surgery. It is suggested here that interactive manipulation of the data to simulate the proposed surgery is a clinically useful extension of the analysis process and should also be considered as an essential part of the pre-operative planning to assure that the appropriate procedure is chosen. The surgical simulation may reduce operative time and improve surgical correction of the deformity.

  3. Increased nuclear β-catenin expression in oral potentially malignant lesions: A marker of epithelial dysplasia.

    Science.gov (United States)

    Reyes, Montserrat; Rojas-Alcayaga, Gonzalo; Maturana, Andrea; Aitken, Juan-Pablo; Rojas, Carolina; Ortega, Ana-Verónica

    2015-09-01

    Deregulation of β-catenin is associated with malignant transformation; however, its relationship with potentially malignant and malignant oral processes is not fully understood. The aim of this study was to determine and compare the nuclear β-catenin expression in oral dysplasia and oral squamous cell carcinoma (OSCC). Cross sectional study. Immunodetection of β-catenin was performed on 72 samples, with the following distribution: 21 mild dysplasia, 12 moderate dysplasia, severe dysplasia 3, 36 OSCC including 19 well differentiated, 15 moderately differentiated and 2 poorly differentiated. Through microscopic observation the number of positive cells per 1000 epithelial cells was counted. For the statistical analysis, the Kruskal Wallis test was used. Nuclear expression of β-catenin was observed in all samples with severe and moderate dysplasia, with a median of 267.5, in comparison to mild dysplasia whose median was 103.75. Only 10 samples (27.7%) with OSCC showed nuclear expression, with statistically significant differences between groups (p < 0.05). Our results are consistent with most of the reports which show increased presence of β-catenin in severe and moderate dysplasia compared to mild dysplasia; however the expression of nuclear β-catenin decreased after starting the invasive neoplastic process. This suggests a role for this protein in the progression of dysplasia and early malignant transformation to OSCC. Immunodetection of β-catenin could be a possible immune marker in the detection of oral dysplasia.

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

    Energy Technology Data Exchange (ETDEWEB)

    Kyriakos, Michael [Division of Surgical Pathology, Washington University School of Medicine, St. Louis, Missouri (United States); Department of Pathology, Washington University School of Medicine, 660 S. Euclid Avenue, Campus Box 8118, MO 63110, St. Louis (United States); McDonald, Douglas J. [Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri (United States); Sundaram, Murali [Department of Radiology, The Mayo Clinic, Rochester, Minnesota (United States)

    2004-01-01

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

  5. Minimal Homozygous Endothelial Deletion of Eng with VEGF Stimulation is Sufficient to Cause Cerebrovascular Dysplasia in the Adult Mouse

    Science.gov (United States)

    Choi, Eun-Jung; Walker, Espen J.; Shen, Fanxia; Oh, S. Paul; Arthur, Helen M.; Young, William L.; Su, Hua

    2013-01-01

    Background Brain arteriovenous malformations (bAVMs) represent a high risk for hemorrhagic stroke, leading to significant neurological morbidity and mortality in young adults. The etiopathogenesis of bAVM remains unclear. Research progress has been hampered by the lack of animal models. Hereditary Hemorrhagic Telangiectasia (HHT) patients with haploinsufficiency of endoglin (ENG, HHT1) or activin receptor-like kinase 1 (ALK1, HHT2) have a higher incidence of bAVM than the general population. We previously induced cerebrovascular dysplasia in the adult mouse brain that resembles human bAVM through Alk1 deletion plus vascular endothelial growth factor (VEGF) stimulation. We hypothesized that Eng deletion plus VEGF stimulation would induce a similar degree of cerebrovascular dysplasia as the Alk1-deleted brain. Methods Ad-Cre (an adenoviral vector expressing Cre recombinase) and AAV-VEGF (an adeno-associated viral vector expressing VEGF) were co-injected into the basal ganglia of 8–10 week old Eng2f/2f (exons 5–6 flanked by loxP sites), Alk12f/2f (exons 4–6 flanked by loxP sites) and wild-type (WT) mice. Vascular density, dysplasia index and gene deletion efficiency were analyzed 8 weeks later. Results AAV-VEGF induced a similar degree of angiogenesis in the brain with or without Alk1- or Eng-deletion. Abnormally patterned and dilated dysplastic vessels were found in the viral vector-injected region of Alk12f/2f and Eng2f/2f brain sections, but not in WT. Alk12f/2f mice had about 1.8-fold higher dysplasia index than Eng2f/2f mice (4.6 ± 1.9 vs. 2.5 ± 1.1, p dysplasia index with the gene deletion efficiency (Alk12f/2f: 16% and Eng2f/2f: 1%), we found that about 8-fold higher dysplasia was induced per copy of Eng deletion (2.5) than that of Alk1 deletion (0.3). ENG-negative endothelial cells were detected in the Ad-Cre-treated brain of Eng2f/2f mice, suggesting homozygous deletion of Eng in the cells. VEGF induced more severe vascular dysplasia in the Ad

  6. Differential immunohistochemical expression profiles of perlecan-binding growth factors in epithelial dysplasia, carcinoma in situ, and squamous cell carcinoma of the oral mucosa.

    Science.gov (United States)

    Hasegawa, Mayumi; Cheng, Jun; Maruyama, Satoshi; Yamazaki, Manabu; Abé, Tatsuya; Babkair, Hamzah; Saito, Chikara; Saku, Takashi

    2016-05-01

    The intercellular deposit of perlecan, a basement-membrane type heparan sulfate proteoglycan, is considered to function as a growth factor reservoir and is enhanced in oral epithelial dysplasia and carcinoma in situ (CIS). However, it remains unknown which types of growth factors function in these perlecan-enriched epithelial conditions. The aim of this study was to determine immunohistochemically which growth factors were associated with perlecan in normal oral epithelia and in different epithelial lesions from dysplasia and CIS to squamous cell carcinoma (SCC). Eighty-one surgical tissue specimens of oral SCC containing different precancerous stages, along with ten of normal mucosa, were examined by immunohistochemistry for growth factors. In normal epithelia, perlecan and growth factors were not definitely expressed. In epithelial dysplasia, VEGF, SHH, KGF, Flt-1, and Flk-1were localized in the lower half of rete ridges (in concordance with perlecan, 33-100%), in which Ki-67 positive cells were densely packed. In CIS, perlecan and those growth factors/receptors were more strongly expressed in the cell proliferating zone (63-100%). In SCC, perlecan and KGF disappeared from carcinoma cells but emerged in the stromal space (65-100%), while VEGF, SHH, and VEGF receptors remained positive in SCC cells (0%). Immunofluorescence showed that the four growth factors were shown to be produced by three oral SCC cell lines and that their signals were partially overlapped with perlecan signals. The results indicate that perlecan and its binding growth factors are differentially expressed and function in specific manners before (dysplasia/CIS) and after (SCC) invasion of dysplasia/carcinoma cells. Copyright © 2016 Elsevier GmbH. All rights reserved.

  7. A distinct chondrodysplasia resembling Kniest dysplasia: clinical, roentgenographic, histologic, and ultrastructural findings.

    Science.gov (United States)

    Sconyers, S M; Rimoin, D L; Lachman, R S; Adomian, G E; Crandall, B F

    1983-12-01

    Two sibs, one girl and one boy, were observed in infancy with a severe lethal skeletal dysplasia syndrome that radiologically and histologically resembled Kniest dysplasia but clearly differed in clinical course and inheritance. Kniest dysplasia is a nonlethal syndrome, whereas both of these infants died in the neonatal period. Kniest dysplasia appears to be inherited as an autosomal dominant trait; the likely transmission in this family was autosomal recessive. Roentgenograms revealed dumbbell-shaped long bones superficially similar to Kniest dysplasia, but with markedly shortened diaphyses and metaphyseal irregularities. Chondro-osseous morphology demonstrated a superficially similar foamy "Swiss cheese" appearance to the cartilage matrix, as seen in Kniest dysplasia, but there were distinctly different changes in the growth plate and resting cartilage. Ultrastructurally, the chondrocytic endoplasmic reticulum was found to have an appearance different from that observed in either normal or Kniest cartilage. These cases likely represent a distinct chondrodysplasia.

  8. 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...... 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......: Wiberg's CE angle, Sharp's angle, the x-coordinate of Goodman's Cartesian coordinate system, and the acetabular depth ratio were significantly affected by varying rotation and inclination/reclination of the cadaver pelvises. Femoral head extrusion index was not significantly affected within the applied...

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

    Science.gov (United States)

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

    2016-12-01

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

  10. Familial non-rcd1 generalised retinal degeneration in Irish setters.

    Science.gov (United States)

    Djajadiningrat-Laanen, S C; Boevé, M H; Stades, F C; van Oost, B A

    2003-03-01

    Four Irish setters were diagnosed with bilateral retinal degeneration and cataracts at an age ranging from six to 11 years. In three of these dogs, progressive night blindness was reported from an age of eight to 11 years. In the fourth dog, aged six, no signs of visual impairment had been noticed. In all four dogs, the rod-cone dysplasia type 1 (rcd1) mutation was excluded as a cause, using an allele-specific PCR. From their three-generation pedigrees, a familial relationship was detected in three out of four dogs, which were also related to four additional Irish setter dogs with a history and clinical signs suggestive of late-onset progressive retinal degeneration. These results suggest the existence of a possibly hereditary, late-onset, progressive retinal atrophy in the Irish setter breed, that is distinct from rcd1.

  11. A Pilot Study of the Prevalence of Anal Human Papillomavirus and Dysplasia in a Cohort of Patients With IBD.

    Science.gov (United States)

    Cranston, Ross D; Regueiro, Miguel; Hashash, Jana; Baker, Jonathan R; Richardson-Harman, Nicola; Janocko, Laura; McGowan, Ian

    2017-12-01

    Defective cell-mediated immunity increases the risk of human papillomavirus-associated anal dysplasia and cancer. There is limited information on anal canal disease in patients with IBD. The purpose of this study was to assess anal/vaginal human papillomavirus and anal dysplasia prevalence in patients with IBD. Patients had an anal examination before routine colonoscopy. The study was conducted at a tertiary IBD referral center. We studied a convenience sample of sexually active male and female patients with IBD who were not on biological therapy. Anal examination, anal and vaginal human papillomavirus testing, anal cytology, and high-resolution anoscopy/biopsy were carried out. Anal and vaginal human papillomavirus types, anal cytology, and biopsy grade were measured. Twenty-five male and 21 female evaluable participants, 31 with Crohn's disease, 14 with ulcerative colitis, and 1 with indeterminate colitis, were predominantly white (91.3%), treatment experienced (76.1%), an average age of 38.1 years (range, 22.0-66.0 y), and had an average length of IBD diagnosis of 9.3 years (range, 1.0-33.0 y). Eighteen (39.1%) had an abnormal perianal examination and 3 (6.5%) had an abnormal digital examination. Forty-one (89.1%) had anal human papillomavirus, 16 with a single type and 25 with multiple types (range, 2-5 types). Human papillomavirus type 16 was most common (65.2%), followed by human papillomavirus types 11 and 45 (37.0% each). Nineteen of 21 (90.5%) women had vaginal human papillomavirus. Overall, 21 (45.7%) had abnormal anal cytology. Thirty three (71.7%) had ≥1 anal biopsy (9 had multiple), with dysplasia diagnosed in 28 (60.9%) and high-grade and low-grade squamous intraepithelial lesions diagnosed in 4 (8.7%) and 24 (43.5%). No control group was included, and no detailed sexual history was taken. A high prevalence of anal and vaginal human papillomavirus and anal dysplasia was demonstrated in the study population outcomes. See Video Abstract at http

  12. 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.

  13. 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.)

  14. 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.

  15. [Diagnosis and treatment of cervical dysplasia. Report of 42 cases].

    Science.gov (United States)

    Denax, A; Bothorel, P; Renaudie, J; Piver, P; Chameau, O J; Eyraud, J P; Baudet, J H

    1990-11-01

    The authors present a retrospective study of 42 cases of conization carried out between January 1987 and October 1989 in the Department of Gynaecology 1 of Dupuytren University Hospital in Limoges. The average age of the population was 42 years and 7 months, with an average parity of 1.9 children per woman. Conization was carried out using either a cold knife (37 cases) or an electric knife (5 cases). Complications consisted of 4 stenoses, 2 secondary haemorrhages and 1 perineal burn. 4 microinvasive cancers, 7 CIN III, 10 CIN II, 4 CIN I and 3 pieces of tissue free from any dysplastic lesion were found on histological examination of the conization tissue. 17 patients (40.4%) had flat condylomas. There was perfect agreement between the diagnoses from the smears and biopsies in 82.1 p. cent of cases; there was 57.1 p. cent agreement when the smear result was compared with the histological study of the conization tissue, and 39.2 p. cent agreement when the latter was compared with biopsy results. On the other hand, false diagnosis due to overevaluation of the severity of the dysplasia was predominant using the least invasive examination (42.8 p. cent when comparing the smear results with those from the study of conization tissue, and 39.2% for biopsies with respect to the conizations). According to the authors, the therapeutic strategy to be used in treating dysplasia must take the severity of the dysplasia, the presence of infection due to HPV and its serotyping, the location and size of the dysplasia, the visibility of the endo-exocol junction line and the psychological context of the patient into consideration.

  16. Florid cemento-osseous dysplasia: a case report

    OpenAIRE

    Gündüz, Kaan; Avsever, Hakan; Karaçayli, Ümit; ?ENEL, Bu?ra; Pişkin,Bülent

    2009-01-01

    Florid cemento-osseous dysplasia (FCOD) has been described as a condition that characteristically affects the jaws of middle-aged black women. It usually exhibits as multiple radiopaque cemetum-like masses distributed throughout the jaws. Radiographically, FCOD appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. Computed tomography, because of its ability to give axial, sagittal, and frontal views, is useful in the evaluation of these lesions. This ...

  17. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

    OpenAIRE

    Charu Gupta; Mahesh Verma; Rekha Gupta; Shubhra Gill

    2015-01-01

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

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

    OpenAIRE

    Reis, Pedro; Mour?o, Joana

    2017-01-01

    Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities. Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, adrenal crisis, seizures, and sudden death. Anesthetic management of SOD was associated with high perioperative mortality. A 9-year-old male child proposed for dental treatments/extractions. Medical history of SOD with hypopituitar...

  19. [Sacro-coccygeal dysplasia and megarrectum in children (author's transl)].

    Science.gov (United States)

    Martínez-Almoyna, C; Monereo, J

    1976-01-01

    35 cases of megarrectum associated with lumbo-sacro-coccygeal dysplasis are reviewed. 32.7% of the dysplasia were sacral. Nine cases were ultrashort aganglionic segments. Symptoms were variable, of early onset (82.7% before one year) and mild (57.1% required medical advise after three). Medical management was useful in the non aganglionic group whereas it was ineffective in the aganglionic group. Sphincteric myotomy was the more common operation used. Physiopathology and modalities of treatment are discussed.

  20. Radiology of multiloculated fibrous dysplasia of the jaws.

    Science.gov (United States)

    Lagundoye, S B; Obisesan, A A; Daramola, J O; Oluwasanmi, J O

    1977-11-01

    Three cases of multiloculated lesion of the jaw (two in the mandible and one in the maxillar) closely mimicking ameloblastoma are described. Histology showed all three to be fibrous dysplasia. Against a diagnosis of ameloblastoma were (1) the relative fuzziness of the margins of the loculi and septae; (2) the mineralization of the matrix which gave a ground-glass background instead of the distinct radiolucency seen in ameloblastoma; and (3) the non-resorption of the dental root apices within the lesion.

  1. Congenital dislocation of knee with ipsilateral developmental dysplasia of hip

    Directory of Open Access Journals (Sweden)

    Sameer Kakar

    2017-01-01

    Full Text Available We present a rare case of a newborn having congenital knee dislocation (CDK with ipsilateral developmental dysplasia of hip (DDH. This case report shows how abnormal intrauterine pressure leads to dislocation of various joints in utero. We managed this conservatively with Pavlik Harness for DDH and serial corrective casting with manipulation for CDK with a satisfactory result after follow-up of 6 months.

  2. Primary cellular meningeal defects cause neocortical dysplasia and dyslamination

    Science.gov (United States)

    Hecht, Jonathan H.; Siegenthaler, Julie A.; Patterson, Katelin P.; Pleasure, Samuel J.

    2010-01-01

    Objective Cortical malformations are important causes of neurological morbidity, but in many cases their etiology is poorly understood. Mice with Foxc1 mutations have cellular defects in meningeal development. We use hypomorphic and null alleles of Foxc1 to study the effect of meningeal defects on neocortical organization. Methods Embryos with loss of Foxc1 activity were generated using the hypomorphic Foxc1hith allele and the null Foxc1lacZ allele. Immunohistologic analysis was used to assess cerebral basement membrane integrity, marginal zone heterotopia formation, neuronal overmigration, meningeal defects, and changes in basement membrane composition. Dysplasia severity was quantified using two measures. Results Cortical dysplasia resembling cobblestone cortex, with basement membrane breakdown and lamination defects, is seen in Foxc1 mutants. As Foxc1 activity was reduced, abnormalities in basement membrane integrity, heterotopia formation, neuronal overmigration, and meningeal development appeared earlier in gestation and were more severe. Surprisingly, the basement membrane appeared intact at early stages of development in the face of severe deficits in meningeal development. Prominent defects in basement membrane integrity appeared as development proceeded. Molecular analysis of basement membrane laminin subunits demonstrated that loss of the meninges led to changes in basement membrane composition. Interpretation Cortical dysplasia can be caused by cellular defects in the meninges. The meninges are not required for basement membrane establishment but are needed for remodeling as the brain expands. Specific changes in basement membrane composition may contribute to subsequent breakdown. Our study raises the possibility that primary meningeal defects may cortical dysplasia in some cases. PMID:20976766

  3. [BRONCHOPULMONARY DYSPLASIA--WHAT DO WE KNOW TODAY?].

    Science.gov (United States)

    Radulova, P; Vakrilova, L; Slancheva, B

    2015-01-01

    The survival of great number of extremely premature newborn babies is associated with increased risk of damage of the newborn lung and development of chronic lung disease/Broncopulmonary dysplasia. The lower the gestational age and weight, the greater the frequency of BPD. The disease leads to impairment of the normal alveolization and vascularization of the premature lung. There are new theories for the pathogenesis of BPD and new staging of the disease. These changes lead to new therapeutic strategies.

  4. Kniest dysplasia: MR correlation of histologic and radiographic peculiarities.

    Science.gov (United States)

    Dwek, Jerry R

    2005-02-01

    Unossified epiphyses of Kniest dysplasia patients histologically reveal a bizarre pattern of chondrocytes lying amid a highly vacuolated matrix giving rise to the name "Swiss cheese" cartilage. The ossified epiphyses also are unusual in showing clouds of dense punctate calcifications randomly distributed throughout. Both unossified and ossified epiphyses reveal on MR imaging a similar pattern of lakes of bright T2 signal against a relatively normal background, which represents an interesting analogue to the histologic and radiographic features.

  5. Pathogenetics of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

    OpenAIRE

    Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V.; Akdemir, Kadir Caner; Jhangiani, Shalini N.; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A.; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G.; Bateman, David A.; Wilson, Ashley L.; Markham, Melinda H.

    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 LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20...

  6. Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report

    OpenAIRE

    Metwalley Kalil Kotb; Fargalley Hekma

    2012-01-01

    Abstract Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly is very rare. Here we report h...

  7. Body mass index, serum total cholesterol, and risk of gastric high-grade dysplasia

    OpenAIRE

    Huang, Ya-Kai; Kang, Wei-Ming; Ma, Zhi-Qiang; Liu, Yu-Qin; Zhou, Li; Yu, Jian-Chun

    2016-01-01

    Abstract Obesity is related to an increased risk of gastric cardia cancer. However, the influences of excess body weight and serum total cholesterol on the risk of gastric high-grade dysplasia have not been fully characterized. A case?control study was conducted to explore the relationships between body mass index (BMI), serum total cholesterol level, and the risk of gastric high-grade dysplasia in Chinese adults. A total of 893 consecutive patients with gastric high-grade dysplasia (537 men ...

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

    OpenAIRE

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

    1994-01-01

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

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

    Science.gov (United States)

    Karam, Adib R; Birjawi, Ghina A; Saghieh, Saïd; Tawil, Ayman; Khoury, Nabil J

    2008-12-01

    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.

  10. 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.)

  11. Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.

    Science.gov (United States)

    Li, You; Garrod, Andrea S; Madan-Khetarpal, Suneeta; Sreedher, Gayathri; McGuire, Marianne; Yagi, Hisato; Klena, Nikolai T; Gabriel, George C; Khalifa, Omar; Zahid, Maliha; Panigrahy, Ashok; Weiner, Daniel J; Lo, Cecilia W

    2015-09-01

    Ciliopathies such as cranioectodermal dysplasia, Sensenbrenner syndrome, short-rib polydactyly, and Jeune syndrome are associated with respiratory complications arising from rib cage dysplasia. While such ciliopathies have been demonstrated to involve primary cilia defects, we show motile cilia dysfunction in the airway of a patient diagnosed with cranioectodermal dysplasia. While this patient had mild thoracic dystrophy not requiring surgical treatment, there was nevertheless newborn respiratory distress, restrictive airway disease with possible obstructive airway involvement, repeated respiratory infections, and atelectasis. High-resolution videomicroscopy of nasal epithelial biopsy showed immotile/dyskinetic cilia and nasal nitric oxide was reduced, both of which are characteristics of primary ciliary dyskinesia, a sinopulmonary disease associated with mucociliary clearance defects due to motile cilia dysfunction in the airway. Exome sequencing analysis of this patient identified compound heterozygous mutations in WDR35, but no mutations in any of the 30 known primary ciliary dyskinesia genes or other cilia-related genes. Given that WDR35 is only known to be required for primary cilia function, we carried out WDR35 siRNA knockdown in human respiratory epithelia to assess the role of WDR35 in motile cilia function. This showed WDR35 deficiency disrupted ciliogenesis in the airway, indicating WDR35 is also required for formation of motile cilia. Together, these findings suggest patients with WDR35 mutations have an airway mucociliary clearance defect masked by their restrictive airway disease. © 2015 Wiley Periodicals, Inc.

  12. Reviewing the use of corticosteroids in bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Fernanda Aparecida de Oliveira Peixoto

    2016-04-01

    Full Text Available Abstract Objective: Review the risks and benefits of postnatal corticosteroid use for the treatment of bronchopulmonary dysplasia, considering that there is not a more effective therapy. Data sources: The literature review was carried out in the BIREME database, using the terms "bronchopulmonary dysplasia and corticosteroid" in the LILACS, IBECS, MEDLINE, Cochrane Library, and SciELO databases, selecting the most relevant articles on the subject, with emphasis on recent literature published in the last five years. Summary of the data: In preterm infants, bronchopulmonary dysplasia is still a common problem and remains without a specific therapy, despite knowledge of the several risk factors. The treatment essentially consists of supportive measures, but in the past, corticosteroids were widely used, as they are the only medications that have an impact on disease progression. However, the emergence of cerebral palsy associated with the indiscriminate use of corticosteroids has prevented the prescription of this drug in the last 15 years. Since then, no new measures have been taken, and the incidence of the disease tended to increase during this period, creating the need for a review of corticosteroid use and, possibly, more restricted indications. Conclusions: The association between risks and benefits of corticosteroid use in preterm infants needs to be considered due to the fact that some infant subpopulations may show more benefits than risks, such as those using mechanical ventilation with difficult weaning.

  13. Reviewing the use of corticosteroids in bronchopulmonary dysplasia.

    Science.gov (United States)

    de Oliveira Peixoto, Fernanda Aparecida; Costa, Paulo Sérgio Sucasas

    2016-01-01

    Review the risks and benefits of postnatal corticosteroid use for the treatment of bronchopulmonary dysplasia, considering that there is not a more effective therapy. The literature review was carried out in the BIREME database, using the terms "bronchopulmonary dysplasia and corticosteroid" in the LILACS, IBECS, MEDLINE, Cochrane Library, and SciELO databases, selecting the most relevant articles on the subject, with emphasis on recent literature published in the last five years. In preterm infants, bronchopulmonary dysplasia is still a common problem and remains without a specific therapy, despite knowledge of the several risk factors. The treatment essentially consists of supportive measures, but in the past, corticosteroids were widely used, as they are the only medications that have an impact on disease progression. However, the emergence of cerebral palsy associated with the indiscriminate use of corticosteroids has prevented the prescription of this drug in the last 15 years. Since then, no new measures have been taken, and the incidence of the disease tended to increase during this period, creating the need for a review of corticosteroid use and, possibly, more restricted indications. The association between risks and benefits of corticosteroid use in preterm infants needs to be considered due to the fact that some infant subpopulations may show more benefits than risks, such as those using mechanical ventilation with difficult weaning. Copyright © 2015 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  14. Her-2 Expression in Gastroesophageal Intestinal Metaplasia, Dysplasia, and Adenocarcinoma.

    Science.gov (United States)

    Almhanna, Khaldoun; Rosa, Marilin; Henderson-Jackson, Evita; Jiang, Kun; Shamekh, Rania; Sayegh, Zena; Malafa, Mokenge P; Coppola, Domenico

    2016-10-01

    Overexpression of human epidermal growth factor receptor 2 protein (Her-2) in Barrett neoplasia is significant for targeted therapy with trastuzumab. Here, we studied the frequency of Her-2 overexpression in Barrett adenocarcinoma and precursor lesions. Retrospective formalin-fixed paraffin-embedded tissue samples of 25 normal (NM) esophageal mucosa, 50 Barrett esophagus (BE) without dysplasia, 49 BE with low-grade dysplasia (LGD), 50 BE with high-grade dysplasia (HGD), and 50 invasive adenocarcinoma (ICA) were used. A BE tissue microarray was built and analyzed by Her-2 immunohistochemistry (IHC) and Her-2 dual in situ hybridization (DISH). Her-2 IHC expression was negative in NM and low in 26% of BE (IHC score: 1+) and in 24.5% of LGD (IHC score: 1 to 2+). Her-2 overexpression was seen in 28% of HGD and in 24% of ICA (IHC score: 2 to 3+). Her-2 DISH was negative in NM and BE but positive in 6% of LGD, 20% of HGD, and 18% of ICA. Differences in Her-2 DISH positivity between NM and HGD or ICA were statistically significant (P=0.02), but those between NM and LGD or HGD and ICA were not (P=0.2). Although Her-2 overexpression results in ICA were similar to previous reports, the finding of 28% in HGD was unexpected and may have clinical implications. Positive Her-2 DISH in 6% of LGD is novel, suggesting a role of Her-2 during BE progression.

  15. Progressive cognitive decline in an adult patient with cleidocranial dysplasia.

    Science.gov (United States)

    Takenouchi, Toshiki; Sato, Wakiro; Torii, Chiharu; Kosaki, Kenjiro

    2014-07-01

    Cleidocranial dysplasia is a skeletal disorder characterized by a defective skull and defective clavicles caused by RUNX2, an activator of osteoblast differentiation. Consistent with the expression pattern of RUNX2, this disorder typically affects the skeletal system, but not the central nervous system. A 56-year-old man with the prototypic skeletal defects of cleidocranial dysplasia and a RUNX2 deletion presented with a progressive cognitive decline after the age of 40 years. After a failed cranioplasty during childhood, he had worn a protective helmet until young adulthood. His current neuroimaging studies revealed extensive cystic encephalomalacia beneath the defective skull, suggesting that his cognitive decline could likely be attributed to repetitive cerebral contusions. Late-onset progressive cognitive decline in the context of a defective skull accompanied by extensive cystic encephalomalacia illustrates the importance of natural calvarial protection against head injury. Since the majority of patients with cleidocranial dysplasia do not wear protective helmets beyond childhood, mainly for cosmetic reasons, a discussion of whether the social disadvantage outweighs the potential risk of brain parenchymal injury may be necessary. Copyright © 2014. Published by Elsevier Masson SAS.

  16. 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.

  17. Neonatal osteofibrous dysplasia associated with pathological tibia fracture: a case report and review of the literature.

    Science.gov (United States)

    Çetinkaya, Merih; Özkan, Hilal; Köksal, Nilgün; Sarısözen, Bartu; Yazıcı, Zeynep

    2012-03-01

    Osteofibrous dysplasia is a rare and benign disease that originates from the tibia or fibula. The symptoms of osteofibrous dysplasia include painless enlargement and bowing of the tibia and pain occurring in the presence of pathological fracture. Herein a male infant who was admitted with redness and swelling on the right leg and diagnosed as pathological tibia fracture due to left tibia osteofibrous dysplasia on the third day of life was presented. To our knowledge, this is the earliest presentation of osteofibrous dysplasia with a pathological fracture in a neonate. Therefore, it must be suspected in neonatal bone fractures.

  18. 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...

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

    Science.gov (United States)

    Pfahler, Sophia; Distl, Ottmar

    2012-01-01

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

  20. 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.

  1. 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.)

  2. Interictal 18F-FDG PET performance of temporal lobe focal cortical dysplasia without MRI abnormalities

    Directory of Open Access Journals (Sweden)

    Hong-wei CHI

    2015-10-01

    Full Text Available Objective To evaluate the 18F-fluoro-2-deoxy-D-glucose (18F-FDG PET performance of focal cortical dysplasia (FCD without MRI abnormalities. Methods A total of 47 cases with FCD underwent standard anterior temporal lobectomy (ATL and hippocampectomy and were confirmed by postoperative pathological findings. Preoperative MRI showed no obvious abnormalities, and 18F-FDG PET were performed on all of them. Results There were 26 males and 21 females, aged 9-51 years (the mean age was 24.35 years. According to postoperative pathological examinations, there were 33 cases of FCD type Ⅰ (12 cases of type Ⅰa, 8 cases of type Ⅰb and 13 cases of type Ⅰc and 14 cases of FCD type Ⅱ (10 cases of type Ⅱ a and 4 cases of type Ⅱ b. A total of 45 cases (95.74% showed reduced brain metabolism in PET examination, including 37 cases of focal temporal lobe hypometabolism (located in medial temporal lobe, temporal pole and hippocampus, etc. and 8 cases of multifocal hypometabolism (extensive hypometabolism in anterior and posterior temporal lobe. Conclusions 18F-FDG PET imaging can be taken as an adjunct diagnostic tool in temporal lobe FCD without MRI abnormalities, so it has important referential value in clinical diagnosis. DOI: 10.3969/j.issn.1672-6731.2015.10.011 

  3. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

    Science.gov (United States)

    Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R

    2014-09-01

    Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic dysplasia (CFTD; MIM#213980) in whom we identified a homozygous splice-site mutation in the transmembrane and coiled-coil domains 1 (TMCO1) gene using WES. TMCO1 mutations cause craniofacial dysmorphism, skeletal anomalies characterized by multiple malformations of the vertebrae and ribs, and intellectual disability (MIM#614132). A retrospective review revealed that clinical manifestations of both syndromes are very similar and overlap remarkably. We propose that mutations of TMCO1 are not only responsible for craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome but also for CFTD.

  4. Respiratory outcomes and atopy in school-age children who were preterm at birth, with and without bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Hercília Guimarães

    2011-01-01

    Full Text Available OBJECTIVE: To assess pulmonary function and the prevalence of atopy in school-age children who were very low birth weight as infants and to compare those who had bronchopulmonary dysplasia to those who did not. METHOD: We studied 85 (39 male and 46 female at a mean age of 84 (range, 62 to 107 months who were very low birth weight infants. Bronchopulmonary dysplasia was defined as oxygen dependency at 36 weeks gestational age. We excluded 8 patients (4 for cerebral palsy and 4 for no collaboration. Detailed perinatal and clinical data were collected. Lung function was evaluated using conventional spirometry. Atopy (assessed by the allergy skin-prick test was considered when at least one positive skin test occurred in a panel of the most common environmental allergens in the local region. Comparisons between the bronchopulmonary dysplasia and no bronchopulmonary dysplasia groups were performed using the Mann-Whitney, x2 and Fisher's exact tests. RESULTS: We compared the bronchopulmonary dysplasia (n = 13 and no bronchopulmonary dysplasia (n = 64 groups. Atopy was observed in 4 (30.8% of the bronchopulmonary dysplasia patients and in 17 (26.6% of the no bronchopulmonary dysplasia patients (p = 0.742. Two (15.4% patients with bronchopulmonary dysplasia had a family history of atopy vs. 17 (26.6% in the no bronchopulmonary dysplasia group (p = 0.5. Lung function tests showed airway obstruction in 2 (15.4% of the bronchopulmonary dysplasia patients and in 10 (15.6% of the no bronchopulmonary dysplasia patients (p = 1.0. Four (33.3% of the bronchopulmonary dysplasia patients had small airway obstruction vs. 14 (22.2% of the no bronchopulmonary dysplasia patients (p = 0.466. CONCLUSION: Our data showed no significant differences in lung function between bronchopulmonary dysplasia and no bronchopulmonary dysplasia patients at school age and no evidence of an association between atopy and bronchopulmonary dysplasia.

  5. Early Inhaled Budesonide for the Prevention of Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Bassler, Dirk; Plavka, Richard; Shinwell, Eric S; Hallman, Mikko; Jarreau, Pierre-Henri; Carnielli, Virgilio; Van den Anker, Johannes N; Meisner, Christoph; Engel, Corinna; Schwab, Matthias; Halliday, Henry L; Poets, Christian F

    2015-10-15

    Systemic glucocorticoids reduce the incidence of bronchopulmonary dysplasia among extremely preterm infants, but they may compromise brain development. The effects of inhaled glucocorticoids on outcomes in these infants are unclear. We randomly assigned 863 infants (gestational age, 23 weeks 0 days to 27 weeks 6 days) to early (within 24 hours after birth) inhaled budesonide or placebo until they no longer required oxygen and positive-pressure support or until they reached a postmenstrual age of 32 weeks 0 days. The primary outcome was death or bronchopulmonary dysplasia, confirmed by means of standardized oxygen-saturation monitoring, at a postmenstrual age of 36 weeks. A total of 175 of 437 infants assigned to budesonide for whom adequate data were available (40.0%), as compared with 194 of 419 infants assigned to placebo for whom adequate data were available (46.3%), died or had bronchopulmonary dysplasia (relative risk, stratified according to gestational age, 0.86; 95% confidence interval [CI], 0.75 to 1.00; P=0.05). The incidence of bronchopulmonary dysplasia was 27.8% in the budesonide group versus 38.0% in the placebo group (relative risk, stratified according to gestational age, 0.74; 95% CI, 0.60 to 0.91; P=0.004); death occurred in 16.9% and 13.6% of the patients, respectively (relative risk, stratified according to gestational age, 1.24; 95% CI, 0.91 to 1.69; P=0.17). The proportion of infants who required surgical closure of a patent ductus arteriosus was lower in the budesonide group than in the placebo group (relative risk, stratified according to gestational age, 0.55; 95% CI, 0.36 to 0.83; P=0.004), as was the proportion of infants who required reintubation (relative risk, stratified according to gestational age, 0.58; 95% CI, 0.35 to 0.96; P=0.03). Rates of other neonatal illnesses and adverse events were similar in the two groups. Among extremely preterm infants, the incidence of bronchopulmonary dysplasia was lower among those who received early

  6. Comparison of two canine registry databases on the prevalence of hip dysplasia by breed and the relationship of dysplasia with body weight and height.

    Science.gov (United States)

    Comhaire, Frank H; Snaps, Frédéric

    2008-03-01

    To compare the results of 2 canine registries for classification of the hip joints for dysplasia by breed, and to relate the percentage of dysplastic dogs with body metric characteristics. Data on the ranking order of hip dysplasia by breed from 2 registries for 156 dog breeds. The prevalence of hip dysplasia listed by the Orthopedic Foundation for Animals (OFA) and the breed mean score according to the list of the British Veterinary Association (BVA) Kennel Club Hip Dysplasia scheme were related to weight and height as well as the body mass index (BMI; kg/m(2)) by breed. The OFA ranking order and the percentage of dysplastic dogs were highly correlated with the BVA mean score (rho = 0.74). A significant correlation was found between the prevalence of hip dysplasia and the BMI (r = 0.63). Receiver operating characteristic curve analysis revealed that the highest area under the curve, corresponding to the best discrimination, was at a BMI of 110 kg/m(2) with a criterion value of 15% dysplastic dogs (area under the curve, 0.89). Because the ratio of dogs in the positive and negative groups reflected the prevalence of the condition among breeds in the OFA database, the positive likelihood ratio was 9.32 and the negative likelihood ratio was 0.24. The OFA statistics and the BVA mean scores reflected the prevalence of hip dysplasia among dog breeds. Body mass index accurately discriminated between breeds with high or low prevalence of hip dysplasia.

  7. Bilateral femoral head dysplasia and osteochondritis. Multiple epiphyseal dysplasia tarda, spondylo-epiphyseal dysplasia tarda, and bilateral Legg-Perthes disease.

    Science.gov (United States)

    Andersen, P E; Schantz, K; Bollerslev, J; Justesen, P

    1988-01-01

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

  8. Polydactyly in neurofibromatosis type I: a potential clue to diagnosis.

    Science.gov (United States)

    Kimes, Kate L; Han, Marie J; Brown, Patrick J

    2016-11-15

    Neurofibromatosis type 1 is a genetic disorder characterized by variable phenotypic manifestations. The diagnostic criteria, 25 established in 1987, are broad to encompass these pleiotropic findings. Included are the specific osseous manifestations of 26 sphenoid dysplasia and dysplasia or thinning of the cortex of long bones. This review highlights recent evidence on the role of 27 neurofibromin in bone development and suggests consideration for additional diagnostic criteria.

  9. An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

    Science.gov (United States)

    Sobreira, Nara; Modaff, Peggy; Steel, Gary; You, Jing; Nanda, Sonia; Hoover-Fong, Julie; Valle, David; Pauli, Richard M

    2015-01-01

    We describe a boy who has an anadysplasia-like spondylometaphyseal dysplasia. By whole exome sequencing he was shown to have compound heterozygous mutations of LBR that codes for the lamin B receptor. He shares many similarities with a case previously described, but in whom the early natural history could not be established [Borovik et al., 2013]. Thus, in addition to Greenberg dysplasia (a perinatal lethal disorder), homozygosity or compound heterozygosity of mutations in LBR can result in a mild, spontaneously regressing bone dysplasia. © 2014 Wiley Periodicals, Inc.

  10. Evaluation of left ventricular function in preterm infants with bronchopulmonary dysplasia using various echocardiographic techniques.

    Science.gov (United States)

    Bokiniec, Renata; Własienko, Paweł; Borszewska-Kornacka, Maria; Szymkiewicz-Dangel, Joanna

    2017-04-01

    Echocardiographic evaluation of left ventricular function in preterm infants with and without bronchopulmonary dysplasia. In 82 preterm infants (32 in no-bronchopulmonary-dysplasia group, 35 in mild-bronchopulmonary-dysplasia group, and 15 in severe-bronchopulmonary-dysplasia group), echocardiography was performed on the first day of life, at 28 days of life, and at 36 weeks postconceptional age. The mean E/A ratio at 36 PCA was 0.94±0.31 and 0.73±0.12 in the mild- and severe-bronchopulmonary-dysplasia groups, respectively (P=.037). The mean E'-wave velocity was 5.62±1.61 cm/s vs 4.32±1.11 cm/s at 1 day of life (P=.006) and 6.40±1.39 cm/s vs 5.34±1.37 cm/s at 28 days of life (P=.030) in the no-bronchopulmonary-dysplasia and mild-bronchopulmonary-dysplasia groups, respectively. This measure tended to be lower in the severe-bronchopulmonary-dysplasia group compared to the no-bronchopulmonary-dysplasia group (5.25±1.29 cm/s at 28 days of life; P=.081). The E/E' ratio differed between the no-bronchopulmonary-dysplasia (7.21±1.85) and mild-bronchopulmonary-dysplasia groups (9.03±2.56; P=.019) at 1 day of life. The left ventricle myocardial performance index decreased between 1 day of life and 36 postconceptional age in infants without bronchopulmonary dysplasia and those with mild bronchopulmonary dysplasia, but not in those with severe bronchopulmonary dysplasia. E/A and E/E' ratios are the most sensitive indicators of impaired left ventricle diastolic function in preterm infants with bronchopulmonary dysplasia. © 2017, Wiley Periodicals, Inc.

  11. Attenuation of miR-17∼92 Cluster in Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Rogers, Lynette K; Robbins, Mary; Dakhlallah, Duaa; Yang, Zhaogang; Lee, L James; Mikhail, Madison; Nuovo, Gerard; Pryhuber, Gloria S; McGwin, Gerald; Marsh, Clay B; Tipple, Trent E

    2015-10-01

    Bronchopulmonary dysplasia remains a significant cause of neonatal morbidity; however, the identification of novel targets to predict or prevent the development of bronchopulmonary dysplasia remains elusive. Proper microRNA (miR)-17∼92 cluster is necessary for normal lung development, and alterations in expression are reported in other pulmonary diseases. The overall hypothesis for our work is that altered miR-17∼92 cluster expression contributes to the molecular pathogenesis of bronchopulmonary dysplasia. The current studies tested the hypothesis that alterations in miR-17∼92 cluster and DNA methyltransferase expression are present in bronchopulmonary dysplasia. miR-17∼92 cluster expression, promoter methylation, and DNA methyltransferase expression were determined in autopsy lung samples obtained from premature infants who died with bronchopulmonary dysplasia, or from term/near-term infants who died from nonrespiratory causes. Expression of miR-17∼92 cluster members miR-17 and -19b was measured in plasma samples collected in the first week of life from a separate cohort of preterm infants at a second institution in whom bronchopulmonary dysplasia was diagnosed subsequently. Autopsy tissue data indicated that miR-17∼92 expression is significantly lower in bronchopulmonary dysplasia lungs and is inversely correlated with promoter methylation and DNA methyltransferase expression when compared with that of control subjects without bronchopulmonary dysplasia. Plasma sample analyses indicated that miR-17 and -19b expression was decreased in infants who subsequently developed bronchopulmonary dysplasia. Our data are the first to demonstrate altered expression of the miR-17∼92 cluster in bronchopulmonary dysplasia. The consistency between our autopsy and plasma findings further support our working hypothesis that the miR-17∼92 cluster contributes to the molecular pathogenesis of bronchopulmonary dysplasia.

  12. COMPARISON OF EPITHELIAL DYSPLASIA - THE 4NQO RAT PALATE MODEL AND HUMAN ORAL-MUCOSA

    NARCIS (Netherlands)

    NAUTA, M; ROODENBURG, JLN; NIKKELS, PGJ; WITJES, MJH; VERMEY, A

    Epithelial dysplasia in the rat palatal mucosa was induced by application three times a week of the carcinogen 4-nitroquinoline 1-oxide (4NQO). With the Epithelial Atypia Index (EAI), the successive stages;of 4NQO-induced epithelial dysplasia were compared with specimens of human oral epithelial

  13. 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

  14. Fibrous Dysplasia with Aneurysmal Bone Cyst Presenting as Painful Solitary Skull lesion

    OpenAIRE

    Lee, Jung Won; Kim, Jae Hoon; Han, Seung Hoon; Kang, Hee In

    2010-01-01

    We report a rare case of fibrous dysplasia with the development of a secondary aneurysmal bone cyst presenting as solitary tumor of calvarium. Although fibrous dysplasia with aneurysmal bone cyst is rare, it should be taken into account in differential diagnosis of the osteolytic solitary skull lesion.

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

    Energy Technology Data Exchange (ETDEWEB)

    Chun, Kyung Ah; Kim, Ki Tae; Kim, Young Joo; Maeng, Lee So; Lee, Eun Jung [The Catholic Univ. of Korea, College of Medicine, Seoul (Korea, Republic of)

    1999-05-01

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

  16. 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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  18. Autosomal recessive anhidrotic ectodermal dysplasia (Christ – Seimens – Touraine syndrome in siblings

    Directory of Open Access Journals (Sweden)

    Sundeep Chowdhry

    2016-07-01

    Full Text Available Anhidrotic Ectodermal Dysplasia (Christ – Seimens – Touraine Syndromeis a rare genodermatoses comprising triad of hypohidrosis (anhidrosis, hypotrichosis and anodontia. It is usually inherited as X-linked recessive. Autosomal dominant and recessive inheritance is very rare, here we report a case of autosomal recessive anhidrotic ectodermal dysplasia.

  19. 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....

  20. 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.