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Sample records for cleidocranial dysplasia patients

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

    PubMed Central

    Lu, Hui; Zeng, Binghui; Yu, Dongsheng; Jing, Xiangyi; Hu, Bin; Wang, Yiming

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes. PMID:26389062

  2. Orthodontic treatment of a patient with cleidocranial dysplasia: A case report

    PubMed Central

    Li, Zi-Jian; Wang, Jun-Yan; Gao, Ming-Fei; Wu, Da-Lei; Chang, Xin

    2016-01-01

    Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition that affects ossification. The dental abnormalities associated with CCD present an obstacle to orthodontic treatment planning. Early diagnosis is crucial to provide the patient with different treatment modalities that will suit the particular patient. In the present case, combined surgical and orthodontic treatment were performed to guide multiple impacted teeth. A single nucleotide missense variation was identified in exon 3 of runt-related transcription factor 2 (RUNX2) in this patient. The current results suggest a correlation between dental alterations and mutations in the runt domain of RUNX2 in CCD patients. Further clinical and genetic studies may required to confirm the association between phenotypes and genotypes in CCD and to identify other factors that may influence the clinical features of this disease. Patients with cleidocranial dysplasia require a team approach which demands good communication and cooperation from the patient. Timing of the intervention is critical, and numerous surgeries may be required. The patient in the present case report was treated by a team of practitioners, which involved several dental specialties to achieve an optimal result. PMID:27446262

  3. Cleidocranial dysplasia: A report of two cases with brief review

    PubMed Central

    Bharti, Kusum; Goswami, Mridula

    2016-01-01

    Summary Cleidocranial dysplasia (CCD) is a genetic disorder primarily causing dysplasia of bones and teeth with autosomal dominant inheritance pattern. Affected individuals presented with several skeletal and dental abnormalities mainly hypoplasia of clavicles, open fontanelles, short stature, retention of primary teeth, supernumerary teeth, delayed eruption of permanent teeth, multiple impacted permanent teeth etc. The present series of two cases illustrates the clinical and radiological features of pediatric patients with cleidocranial dysplasia. The early diagnosis of the condition helps in proper orientation of the treatment thereby offering better quality of life to such patients. PMID:27195196

  4. Cleidocranial dysplasia with hearing loss

    PubMed Central

    Candamourty, Ramesh; Venkatachalam, Suresh; Yuvaraj, Vaithilingam; Kumar, Ganesan Suresh

    2013-01-01

    Cleidocranial dysplasia is an inherited skeletal anomaly that affects primarily the skull, clavicle, and dentition, which can occur spontaneously, but most are inherited in autosomal dominant mode. The skull findings are brachycephaly, delayed or failed closure of the fontanelles, presence of open skull sutures and multiple wormian bones with pronounced frontal bossing. The syndrome is notable for aplasia or hypoplasia of the clavicles. The neck appears long and narrow and the shoulders markedly droop. Oral manifestations exhibit a hypoplastic maxilla with high-arched palate. Crowding of teeth is produced by retention of deciduous teeth, delayed eruption of permanent teeth, and the presence of a large number of unerupted supernumerary teeth. We report a case of CCD in a 12-year-old girl who presented with an unaesthetic facial appearance, unerupted permanent dentition with hearing loss. PMID:23633875

  5. Cleidocranial Dysplasia: A Clinico-radiographic Spectrum with Differential Diagnosis

    PubMed Central

    Patil, Purva Prakash; Barpande, Suresh Ramchandra; Bhavthankar, Jyoti Dilip; Humbe, Jayanti G.

    2015-01-01

    Introduction: Cleidocranial dysplasia (CCD) is characterized by aplasia or hypoplasia of the clavicles, characteristic craniofacial malformations, and the presence of numerous supernumerary and unerupted teeth. It affects bones derived from both intra-membranous and endochondral ossification. Incidence has been reported as 1 in 10,00,000. It is caused by mutation in the gene encoding transcription factor Core Binding Factor Subunit Alpha l (CBFAl) or Runt related transcription factor 2 (RUNX2). Case Report: This presentation discusses the clinical and radiographic features of a familial case of cleidocranial dysplasia occurring in a father and a child. All the clinical and radiographic features, except that of the chest x-ray, were more prominent in the child than the father. This supports the fact that CCD is transmitted by an autosomal-dominant mode of inheritance with high penetrance and variable expressivity. It is sporadic in about 40% of cases. Each child of an individual with CCD has a 50% chance of in heriting the mutation. Conclusion: Diagnosis is mostly made on the basis of clinical and radiographic features. Molecular genetic testing such as sequence analysis or deletion analysis can be used in cleidocranial dysplasia. Some cases are diagnosed through incidental findings by physicians, treating patients for unrelated conditions. Treatment of these patients requires a multidisciplinary approach which includes orthopaedic and dental corrections along with management of any complications of cleidocranial dysplasia. PMID:27299035

  6. Differing therapeutic approaches to cleidocranial dysplasia (CCD).

    PubMed

    Mortellaro, C; Greco Lucchina, A; Prota, E

    2012-04-01

    Cleidocranial dysplasia (CCD) (MIM 119600) is a genetic skeletal disorder characterised by skeletal alterations at numerous bone segments (cranium, clavicles, pelvis) and a typical hyperdontia. It is a hereditary disease of the dominant autosomal type with wide variability of expression. The constant presence of numerous supernumerary teeth poses two orders of problems. On one hand, if these supplementary teeth are impacted, they may constitute a mechanical obstacle to the eruption of normal teeth. If on the contrary they have erupted, they cause aesthetic and functional damage. Surgical therapy is indispensable to restore a correct architecture to the alveolar-dental arches, and it is recommended during childhood to avoid or at least reduce complications in adulthood. Two cases of cleidocranial dysplasia are here reported. The adult patient (Case 1), reached our observation with a poor oral situation, manifested relapsing odontogenic abscesses at several impacted supernumerary teeth. The surgical treatment was complex and invasive, requiring percutaneous access in order to remove a tooth embedded in the mandible and the extraction of almost all residual teeth. This outcome was avoided in the second case, through combined surgical-orthodontic treatment that entailed extraction of the supernumerary teeth and subsequent orthodontic treatment, with restoration of a normal occlusion. In conclusion, management of patients suffering from very rare pathologies should be carefully evaluated in relation to clinical characteristics and possible local and systemic complications. The aim of this study is to illustrate two cases managed in a paradigmatically opposite way. It is paramount for the surgeon to intercept cases of hyperodontia typical of CCD at an early phase. It is possible, through correct surgical-orthodontic treatment, not only to avoid local and general complications, but also to achieve proper occlusion.

  7. Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report

    PubMed Central

    Schnutenhaus, Sigmar; Luthardt, Ralph G; Rudolph, Heike; Götz, Werner

    2015-01-01

    Objectives: Cleidocranial dysplasia (CCD) is a rare congenital malformation syndrome, inherited autosomal-dominantly. During a course of treatment including surgical, implantological and restorative procedures, an opportunity arose to histologically examine biopsies of the maxilla and mandible of a CCD patient 47 years of age. Case report: The aim of this case report is to present the results of the histological evaluation of the alveolar bone and the surgical pretreatment for and placement of six implants each in the maxilla and the mandible. The implants were inserted in a minimally invasive procedure using 3D template guidance. Following uneventful healing of the implants, ceramically veneered bridges were cemented on individual titanium abutments. Since the patient had not received orthodontic treatment in childhood-which would have been the treatment modality of choice-this implantological and prosthodontic approach was necessary. Biopsies were taken from the maxilla and the mandible before placing the implants. Histological evaluation showed bone with strong, coarsely interconnecting trabeculae, especially in the maxilla. Both the bone and the gingiva otherwise exhibited a normal structure without pathological features or anomalies. Conclusion: The clinical parameters and histological evaluation of this one clinical case suggest that the concepts familiar from general oral implantology in terms of surgical and prosthetic procedures can be adopted for older patients with CCD. PMID:26339428

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

    PubMed Central

    Gupta, Nandita S.; Gogri, Ajas A.; Kajale, Manasi M.; Kadam, Sonali G.

    2015-01-01

    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. PMID:26097368

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

    PubMed

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

    2010-03-01

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

  10. Cleidocranial dysplasia: diagnostic criteria and combined treatment.

    PubMed

    Suba, Zsuzsanna; Balaton, Gergely; Gyulai-Gaál, Szabolcs; Balaton, Peter; Barabás, József; Tarján, Ildikó

    2005-11-01

    Cleidocranial dysplasia (CCD) is an uncommon, generalized skeletal disorder characterized by delayed ossification of the skull, aplastic or hypoplastic clavicles, and serious, complex dental abnormalities. There are many difficulties in the early diagnosis of CCD because a majority of the craniofacial abnormalities becomes obvious only during adolescence. In the present case, a hypoplastic midface, a relative prognathia of the mandible, and close approximation of the shoulders in the anterior plane were the conspicuous extraoral findings. Prolonged exfoliation of the primary dentition, unerupted supernumerary teeth, and the irregularly and partially erupted secondary dentition produced occlusional anomalies. The presence of the second permanent molars together with the primary dentition and wide spacing in the lower incisor area were typical dental signs. Gradual extraction of the supernumerary teeth and over-retained primary teeth was the first step of oral surgery. This was followed by a surgical exposure of the unerupted teeth by thinning of the cortical bone. Orthodontic treatment was aimed at parallel growth of the jaws. Removable appliances were used to expand the narrow maxillary and mandibular arches, and a Delaire mask compensated for the lack of sagittal growth of the upper jaw. Temporary functional rehabilitation was solved by partial denture. When the jaws have been fully developed, implant insertions and bridges are the therapeutic measures. The reported case and the literature data support the importance of the early diagnosis and interdisciplinary treatment of CCD.

  11. Cleidocranial dysplasia case report: remodeling of teeth as aesthetic restorative treatment.

    PubMed

    da Cunha, Leonardo Fernandes; Caetano, Isabela Maria; Dalitz, Fernando; Gonzaga, Carla Castiglia; Mondelli, José

    2014-01-01

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

  12. [Orthodontic and oral surgery therapy in cleidocranial dysplasia].

    PubMed

    Balaton, Gergely; Tarján, Ildikó; Balaton, Péter; Barabási, Zoltán; Gyulai Gál, Szabolcs; Nagy, Katalin; Vajó, Zoltán

    2007-02-01

    A cleidocranial dysplasia is an autosomal dominant inherited condition consisting of generalized skeletal disorder. Associated dental signs are present in 93,5%; failure of tooth eruption with multiple supernumerary teeth, dilaceration of roots, crown germination, microdontia, high arched palate, midface hypoplasia, high gonion angle. The molecular- genetic analysis revealed a missense mutation in the CBFA1 gene located on chromosome 6p21, which is considered to be etiological factor for CCD. Orthodontic and oral surgery therapy of a 13 year-old child with CCD was performed due to aesthetic and functional problems. The supernumerary germs were removed and the teeth were aligned with orthodontic appliances. Temporary functional rehabilitation was solved with partial denture. The presented case and the literature data support the importance of early diagnosis of CCD. The good collaboration of the orthodontic and maxillo-facial surgery specialists help achieve the correct rehabilitation of the patient.

  13. Osteoclastogenic Potential of Peripheral Blood Mononuclear Cells in Cleidocranial Dysplasia

    PubMed Central

    Faienza, Maria Felicia; Ventura, Annamaria; Piacente, Laura; Ciccarelli, Maria; Gigante, Margherita; Gesualdo, Loreto; Colucci, Silvia; Cavallo, Luciano; Grano, Maria; Brunetti, Giacomina

    2014-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, dental abnormalities, and delayed closure of the cranial sutures. In addition, mid-face hypoplasia, short stature, skeletal anomalies and osteoporosis are common. We aimed to evaluate osteoclastogenesis in a child (4 years old), who presented with clinical signs of CCD and who have been diagnosed as affected by deletion of RUNX2, master gene in osteoblast differentiation, but also affecting T cell development and indirectly osteoclastogenesis. The results of this study may help to understand whether in this disease is present an alteration in the bone-resorptive cells, the osteoclasts (OCs). Unfractionated and T cell-depleted Peripheral Blood Mononuclear Cells (PBMCs) from patient were cultured in presence/absence of recombinant human M-CSF and RANKL. At the end of the culture period, OCs only developed following the addition of M-CSF and RANKL. Moreover, real-time PCR experiment showed that freshly isolated T cells expressed the osteoclastogenic cytokines (RANKL and TNFα) at very low level, as in controls. This is in accordance with results arising from flow cytometry experiments demonstrating an high percentage of circulating CD4+CD28+ and CD4+CD27+ T cells, not able to produce osteoclastogenic cytokines. Also RANKL, OPG and CTX serum levels in CCD patient are similar to controls, whereas QUS measurements showed an osteoporotic status (BTT-Z score -3.09) in the patient. In conclusions, our findings suggest that the heterozygous deletion of RUNX2 in this CCD patient did not alter the osteoclastogenic potential of PBMCs in vitro. PMID:24578613

  14. Fabrication of lithium silicate ceramic veneers with a CAD/CAM approach: a clinical report of cleidocranial dysplasia.

    PubMed

    da Cunha, Leonardo Fernandes; Mukai, Eduardo; Hamerschmitt, Raphael Meneghetti; Correr, Gisele Maria

    2015-05-01

    The fabrication of minimally invasive ceramic veneers remains a challenge for dental restorations involving computer-aided design and computer-aided manufacturing (CAD/CAM). The application of an appropriate CAD/CAM protocol and correlation mode not only simplifies the fabrication of ceramic veneers but also improves the resulting esthetics. Ceramic veneers can restore tooth abnormalities caused by disorders such as cleidocranial dysplasia, enamel hypoplasia, or supernumerary teeth. This report illustrates the fabrication of dental veneers with a new lithium silicate ceramic and the CAD/CAM technique in a patient with cleidocranial dysplasia.

  15. The 'chef's hat' appearance of the femoral head in cleidocranial dysplasia.

    PubMed

    Aktas, S; Wheeler, D; Sussman, M D

    2000-04-01

    Cleidocranial dysplasia (CCD) is inherited as an autosomal dominant disorder characterised by failure of membranous ossification. The condition is due to a mutation of the cbfa1 gene on chromosome 6 which has a role in the development of osteoblasts from the mesenchymal cells. In their growing years, these patients have an unusual shape of the femoral head reminiscent of a 'chef's hat'. In order to confirm the consistency of this sign, we have reviewed the radiographs of 28 patients with CCD. All except three had this appearance. The sign was also seen in patients with coxa vara associated with a variety of other conditions. The chef's hat sign may occur secondary to the particular mechanical environment created by coxa vara as well as abnormal cellular function in patients with CCD. Although coxa vara has some influence on the shape of the femoral head, it is not entirely responsible for its morphology since it was present in only six of the 28 patients with CCD.

  16. Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation

    SciTech Connect

    Narahara, Kouji; Tsuji, Kazushiro; Yokoyama, Yuji

    1995-03-13

    Cleidocranial displasia (CCD) is an autosomal-dominant, generalized skeletal disorder. The gene locus for this syndrome has not yet been mapped. The presence of rare chromosome rearrangements in Mendelian disorders has facilitated the localization or positional cloning of these disease genes. We report on another patient with autosomal-dominant CCD who had a balanced t(6;8) translocation. 3 refs., 2 figs.

  17. Interim prosthetic phase of multidisciplinary management of cleidocranial dysplasia: "the Bronx Approach".

    PubMed

    Berg, Robert W; Kurtz, Kenneth S; Watanabe, Ikuya; Lambrakos, Anthony

    2011-10-01

    This case report presents treatment of two patients with the usual characteristics of Cleidocranial Dysostosis. A multidisciplinary approach using the disciplines of prosthodontics, orthodontics, and oral surgery was effected. Exfoliation of the patient's deciduous teeth and failure of permanent anterior tooth eruption led to emotional, social, and self-esteem issues in both patients. Due to the psychosocial issues confronting these two patients, esthetics was addressed prior to active intervention with orthodontics and after some surgical intervention. The use of two interim overdenture prostheses with magnetic retention is described.

  18. A gene for cleidocranial dysplasia to the short arm of chromosome 6

    SciTech Connect

    Feldman, G.F.; Muenke, M.; Robin, N.H.; Zackai, E.H. |; Gasser, D.L.; Bailey, C.; Siegel-Bartelt, J.; Brueton, L.A.; Robertson, E.; Thompson, E.M.

    1995-04-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning two candidate regions on chromosomes 8q and 6. The strongest support for linkage was with chromosome 6p microsatellite marker D6S282 with a two-point lod score of 4.84 ({theta} = .03). Furthermore, the multipoint lod score was 5.70 in the interval between D6S282 and D6S291. These data show that the gene for autosomal dominant CCD is located within a 19-cM interval on the short arm of chromosome 6, between D6S282 and D6S291. 25 refs., 3 figs., 1 tab.

  19. Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case

    PubMed Central

    Qin, Xue-Yan; Jia, Pei-Zeng; Zhao, Hua-Xiang; Li, Wei-Ran; Chen, Feng; Lin, Jiu-Xiang

    2017-01-01

    Background: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD. Methods: We made genetic testing on this sporadic Chinese case and identified a novel RUNX2 frameshift mutation: c.1111dupT. In situ immunofluorescence microscopy and osteocalcin promoter luciferase assay were performed to compare the functions of the RUNX2 mutation with those of wild-type RUNX2. Results: RUNX2 mutation was observed in the perinuclear region, cytoplasm, and nuclei. In contrast, wild-type RUNX2 was confined in the nuclei, which indicated that the subcellular compartmentalization of RUNX2 mutation was partially perturbed. The transactivation function on osteocalcin promoter of the RUNX2 mutation was obviously abrogated. Conclusions: We identified a sporadic CCD patient carrying a novel insertion/frameshift mutation of RUNX2. This finding expanded our understanding of CCD-related phenotypes. PMID:28091408

  20. Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh).

    PubMed

    Selby, P B; Bolch, S N; Mierzejewski, V S; McKinley, T W; Raymer, G D

    1993-01-01

    Heterozygotes for cleidocranial dysplasia (Ccd) and short digits (Dsh) were crossed to test whether synergistic interactions occur between different dominant mutations whose individual pleiotropic phenotypic effects exhibit a common feature. These unlinked mutations are homozygous lethal, and they are congenic on the C57BL/10 background. Each mutation caused more than 10 different anomalies and showed variable expressivity. Each mutation produced several malformations that were present in every heterozygote. Seven different synergistic interactions were found, including one that yielded an entirely new abnormality not predicted from any abnormalities found in either of the single heterozygotes. Although synergistic interactions between dominant mutations have not, to our knowledge, been described in humans, these findings in mice increase the probability that they occur in humans. Under certain circumstances in human populations, the segregation of mutations causing synergistic interactions of the type demonstrated might be confused with recessive inheritance. It will be important to learn whether synergistic interactions can occur between other mutations. If they can, it will probably become important to take synergistic interactions into account when estimating the genetic hazards to humans from mutagens. Three antagonistic interactions were also found.

  1. Genetics Home Reference: cleidocranial dysplasia

    MedlinePlus

    ... believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved ... Schroeder TM, Jensen ED, Westendorf JJ. Runx2: a master organizer of gene transcription in developing and maturing ...

  2. Osseointegration and guided bone regeneration in ectodermal dysplasia patients.

    PubMed

    Garagiola, Umberto; Umberto, Garagiola; Maiorana, Carlo; Ghiglione, Valentino; Marzo, Giuseppe; Santoro, Franco; Szabò, Gyorgy

    2007-11-01

    Dental and surgical implant treatment for patients affected by ectodermal dysplasia syndrome can be very complicated. The guided bone regeneration (GBR) membrane technique together with bone grafting is used to facilitate the placement of osseointegrated implants in a prosthetically guided position. Two groups with the same bony anatomical features were assessed. The first consisted of 13 ectodermal dysplasia patients in whom 66 implants with bone grafts and membranes were inserted. In the second control group, 120 implants with GBR were placed in 20 patients. The implants were assessed at the second stage of surgery, and at a follow-up after 1, 2, and 3 years of functional loading. There was no statistically significant difference in the osseointegration rate between the two groups. Despite the anatomical defects associated with the decreased occlusal vertical dimension and the reduced edentulous alveolar ridges, both in height and width, osseointegrated implants together with GBR and bone grafts can be used successfully in patients with ectodermal dysplasia syndrome.

  3. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

    PubMed Central

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

    2015-01-01

    Reduced number of teeth with underdeveloped alveolar ridges poses a greatest prosthetic challenge in rehabilitation of ectodermal dysplasia patients (ED). Furthermore, surgical risks and financial constraints may preclude the implant supported prosthesis, the most desirable treatment option in an adult ED patient. Long edentulous span does not permit fixed dental prosthesis (FDP) as well. Telescopic denture by incorporating the best of both fixed and removable prosthesis can be a viable treatment alternative for ED patients with compromised dentition and limited finances. A 21-year-old young girl presented with chief complaint of esthetics and mastication due to missing upper and lower teeth. A provisional diagnosis of ED was made based on familial history, physical, and oral examination. This clinical report describes management of an adult ED patient by means of telescopic overdenture prosthesis in mandibular arch and FDP in maxillary arch which restored esthetics, function, and social confidence of the patient in a cost effective manner. PMID:26604583

  4. Conventional Complete Denture in Patients with Ectodermal Dysplasia

    PubMed Central

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

    2015-01-01

    Ectodermal dysplasia is described as heritable conditions that involve anomalies of structures derived from the ectoderm, including hypodontia. In the cases of edentulous young patients, who did not finish their craniofacial growth, treatment with conventional complete denture is a suitable alternative. The aim of this study was to report a case of mandibular edentulism treated with conventional complete denture in a thirteen-year-old patient diagnosed with hidrotic ectodermal dysplasia. Typical features, such as frontal bossing, depressed nasal bridge, protuberant lips, scarce hair, and brittle nails, were visualized during the extraoral examination. The intraoral inspection and radiographic analysis revealed oligodontia, dental malformation, and prolonged retention of deciduous teeth at maxilla and total edentulism at mandible. A conventional complete denture was planned and constructed following the same steps of technique as recommended in adults. Although this option is not a definitive treatment, the patient and his parents were satisfied with his improvement in chewing and speech, as well as with the aesthetic benefits. PMID:26425372

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

    PubMed

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

    2016-01-01

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

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

    PubMed

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

    2013-07-01

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

  7. Kidney Dysplasia

    MedlinePlus

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

  8. Are the Current Classifications and Radiographic Measurements for Trochlear Dysplasia Appropriate in the Skeletally Immature Patient?

    PubMed Central

    Stepanovich, Matthew; Bomar, James D.; Pennock, Andrew T.

    2016-01-01

    Background: The assessment and classification of trochlear dysplasia in pediatric patients has yet to be well documented or validated. Purpose: To examine several different measurements/classifications of trochlear dysplasia in skeletally immature patients to assess inter- and intraobserver reliability and to determine which best correlates with patellar instability. Study Design: Cohort study (diagnosis); Level of evidence, 3. Methods: Radiographs and magnetic resonance imaging (MRI) scans of 36 skeletally immature patients undergoing surgery for patellar instability were compared with 27 age-matched cohort patients who had similar imaging for an acute knee injury but no clinical evidence of patellar instability. Trochlear dysplasia was measured/classified using the radiographic and MRI Dejour classifications, the trochlear depth index (TDI), the lateral trochlear inclination (LTI), and the medial condyle trochlear offset (MCTO). Additionally, the tibial tubercle–trochlear groove (TT-TG) distance was calculated for all patients. Inter- and intraobserver reliability of each measurement, as well as the ability to discriminate patients with patellar instability, were evaluated. Results: Inadequate radiographs prevented the radiographic Dejour classification from being assessed in 78% of cases. The MRI Dejour classification had the lowest inter- and intraobserver reliabilities (κ = 0.687 and 0.596, respectively); all other measurements were greater than 0.80. The TDI, LTI, and MCTO all significantly differentiated patients with patellar instability compared with those with no instability, with critical cutoffs of 3 mm, 17°, and 1 mm, respectively. Patients with a TDI <3 mm or MCTO <1 mm were 33 and 38 times more likely to have patellar instability, respectively. The TT-TG was directly correlated with trochlear dysplasia severity. Conclusion: Trochlear dysplasia is common in skeletally immature patients with patellar instability. The objective assessment of

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

    PubMed

    Haldar, Rudrashish; Gyanesh, Prakhar; Samanta, Sukhen

    2013-10-01

    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.

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

    PubMed

    Velayos, Fernando; Kathpalia, Priya; Finlayson, Emily

    2017-02-01

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

  11. [Features of fluor intoxication development in patients with nondifferentiated connective tissue dysplasia and physical therapy methods for these patients].

    PubMed

    Tereshina, L G; Budkar', L N; Obukhova, T Iu; Bugaeva, I V; Karpova, E A

    2013-01-01

    The article covers results of studies concerning time of fluorosis development in patients with signs of connective tissue dysplasia syndrome (CTDS). if compared with patients without CTDS, and of studies concerning hyperostosis coefficient in accordance with presence or absence of CTDS. Efficiency of physical therapy and balneotherapy for these patients are also reported by the authors.

  12. Oral rehabilitation of a young patient with hypohidrotic ectodermal dysplasia: A clinical report.

    PubMed

    Anuroopa, A; Abdulla, Jafar; Lovely, M

    2012-04-01

    Ectodermal dysplasia (ED) represents a group of patients with mild to severe congenital and developmental anomalies. Dentists are the first person to identify ED in young patients. The impairment is not just the form and function but extends to the social outlook as well as the psychology of the affected individual. This case report describes management of ED with a long-span fixed partial denture fabricated using a Broadrick flag.

  13. [Oral rehabilitation with metalloceramic restorations in patients with non-differentiated systemic connective tissue dysplasia].

    PubMed

    Stafeev, A A

    2015-01-01

    False formation of connective tissues have a great influence on structure and function of organs and tissues of the human body. In prosthodontics, the changes in connective tissues greatly occur during clinical stages of preparing metal ceramic dentures. The algorithm of treatment patients with connective tissue dysplasia during metal ceramic dentures was developed and introduced into practical dentistry based on studying the morphology and functionality of dentition and clinical experience.

  14. A long term follow up of 15 patients with arrhythmogenic right ventricular dysplasia.

    PubMed Central

    Blomström-Lundqvist, C; Sabel, K G; Olsson, S B

    1987-01-01

    The clinical course in 15 patients with features consistent with arrhythmogenic right ventricular dysplasia is described. At referral seven patients had abnormal physical findings, nine had abnormal electrocardiograms with non-specific right-sided abnormalities, and seven patients had increased heart size or prominent right ventricles on chest x ray. During long term follow up (mean 8.8 years, range 1.5 to 28 years) 11 patients had abnormal physical findings, 11 had electrocardiographic changes, and nine had increased heart size. Recurrent sustained right ventricular tachycardia was the most common arrhythmia (10 patients). Two patients experienced ventricular fibrillation. Seven patients suffered from over 10 episodes of ventricular tachycardia, nine required cardioversions, and 10 patients had associated serious symptoms such as syncope, severe hypotension, or cardiac arrest. Four patients required operation to correct the arrhythmia and three patients developed right heart failure. Two out of three deaths were sudden. These data suggest that in arrhythmogenic right ventricular dysplasia right ventricular abnormalities may be progressive and that the condition may affect the left ventricle. The course of the ventricular arrhythmias was highly variable and could not be predicted in individual patients. The potential for lethal ventricular arrhythmias is evident and warrants intensive diagnostic efforts to identify patients with adverse prognostic features. PMID:3676037

  15. High definition versus standard definition white light endoscopy for detecting dysplasia in patients with Barrett's esophagus.

    PubMed

    Sami, S S; Subramanian, V; Butt, W M; Bejkar, G; Coleman, J; Mannath, J; Ragunath, K

    2015-01-01

    High-definition endoscopy systems provide superior image resolution. The aim of this study was to assess the utility of high definition compared with standard definition endoscopy system for detecting dysplastic lesions in patients with Barrett's esophagus. A retrospective cohort study of patients with non-dysplastic Barrett's esophagus undergoing routine surveillance was performed. Data were retrieved from the central hospital electronic database. Procedures performed for non-surveillance indications, Barrett's esophagus Prague C0M1 classification with no specialized intestinal metaplasia on histology, patients diagnosed with any dysplasia or cancer on index endoscopy, and procedures using advanced imaging techniques were excluded. Logistic regression models were constructed to estimate adjusted odds ratios and 95% confidence intervals comparing outcomes with standard definition and high-definition systems. The high definition was superior to standard definition system in targeted detection of all dysplastic lesions (odds ratio 3.27, 95% confidence interval 1.27-8.40) as well as overall dysplasia detected on both random and target biopsies (odds ratio 2.36, 95% confidence interval 1.50-3.72). More non-dysplastic lesions were detected with the high-definition system (odds ratio 1.16, 95% confidence interval 1.01-1.33). There was no difference between high definition and standard definition endoscopy in the overall (random and target) high-grade dysplasia or cancers detected (odds ratio 0.93, 95% confidence interval 0.83-1.04). Trainee endoscopists, number of biopsies taken, and male sex were all significantly associated with a higher yield for dysplastic lesions. The use of the high-definition endoscopy system is associated with better targeted detection of any dysplasia during routine Barrett's esophagus surveillance. However, high-definition endoscopy cannot replace random biopsies at present time.

  16. A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE.

    PubMed

    Sag, S Ozemri; Gorukmez, O; Topak, A; Gorukmez, O; Ture, M; Sahinturk, S; Gulten, T; Yakut, T

    2015-01-01

    Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton. Furthermore it is related to axial skeleton and leads to wedging of vertebral bodies, with shorter dorsal margins than the ventral margins. Bartels et al. defined mutations in NPR2 gene, encoding natriuretic peptide receptor B (NPR-B), underlying Acromesomelic dysplasia, type Maroteaux. We present here molecular and clinical findings of a case with AMDM. In a patient, a novel homozygous mutation c.1435C>T p.R479X in exon 7 of NPR2 gene was found. Further testing confirmed the heterozygous carrier status of the parents. Our findings expand the spectrum of causative mutations in AMDM.

  17. Staged total hip arthroplasty in a patient with hip dysplasia and a large pertrochanteric bone cyst.

    PubMed

    Langston, Joseph R; DeHaan, Alexander M; Huff, Thomas W

    2016-06-01

    Hip arthroplasty in young patients requires thoughtful preoperative planning. Patients with proximal femoral bone loss complicate this planning and may require a staged procedure to optimize implant insertion. We report on a case of a 26-year-old woman with secondary hip arthritis from developmental dysplasia of the hip and a large pertrochanteric bone cyst that was treated with staged total hip arthroplasty. The cyst was decompressed and filled with an osteoconductive and osteoinductive bone graft substitute called EquivaBone. One year later, the patient underwent a successful primary total hip arthroplasty. Fifteen-month follow-up after her hip replacement revealed resolution of postoperative pain and significant functional improvement.

  18. Application of MSI in MRI-negative focal cortical dysplasia patients with epilepsy

    PubMed Central

    Sun, Jilin; Jia, Xiuchuan; Liu, Xi; Wu, Jie; Li, Sumin

    2015-01-01

    Background: Focal cortical dysplasia (FCD) is the most common cause of intractable epilepsy in children and adolescent. Purpose: To evaluate the application value of magnetic source imaging (MSI) in treatment of magnetic resonance imaging (MRI)-negative FCD patients with epilepsy. Methods: MSI characteristics of 17 cases of MRI-negative focal cortical dysplasia patients with epilepsy were retrospectively analyzed. All patients were treated by surgery. Results: In 17 patients, there were 3 cases of FCD Ia, 7 cases of FCDIb, 3 cases of FCDIIa and 4 cases of FCDIIb. FCD was located at temporal lobe in 8 cases, occipital lobe in 3 cases, frontal lobe in 2 cases and two lobes in 4 cases. In follow-up, 14 patients obtained satisfied curative effect. 1 patient was improved significantly and 2 patients were fine. The concordance between MSI and electrocorticogram in localizing epileptogenic foci was 65%. Conclusion: MSI is a new prospective noninvasive functional neuroimaging technique for identifying and delineating epileptogenic foci in MRI-negative FCD patients. PMID:26770448

  19. Retinal dysplasia of holoprosencephaly.

    PubMed

    Gorovoy, Ian R; Layer, Noelle; de Alba Campomanes, Alejandra G

    2014-03-04

    Retinal dysplasia occurs in the setting of sporadic and syndromic holoprosencephaly, which often has associated ocular malformations. The pathology of this dysplasia, which includes rosettes, has been previously described. However, its funduscopic findings have not been well documented. The authors present the fundus images of a patient with severe holoprosencephaly with retinal dysplasia and bilateral optic nerve colobomas that resulted in death 2 weeks after birth.

  20. Total Hip Arthroplasty in Patients with Skeletal Dysplasia.

    PubMed

    Guenther, Daniel; Kendoff, Daniel; Omar, Mohamed; Cui, Liang R; Gehrke, Thorsten; Haasper, Carl

    2015-09-01

    127 patients with a height ≤ 150 cm (non metric ≤ 4 feet and 11 inches) who received hip arthroplasty surgery between July 1, 2006 and May 30, 2013 at our institution were enrolled. Retrospective data evaluation was performed for two different times of follow-up (1 year and 5 years respectively). 115 patients were evaluated for 1-year follow up. Out of these, 27 patients were available for 5-year follow up. The mean Harris Hip Score increased from 40 ± 13 on admission to 82 ± 20 (P<0.001) at 1-year follow-up and 79 ± 17 (P<0.001) at 5-year follow-up. Hip arthroplasty can be performed in patients with dwarfism with good clinical benefits. However, survival rates are worse compared to the general population.

  1. Are cam and pincer deformities as common as dysplasia in Japanese patients with hip pain?

    PubMed

    Mori, R; Yasunaga, Y; Yamasaki, T; Nakashiro, J; Fujii, J; Terayama, H; Ohshima, S; Ochi, M

    2014-02-01

    In Japan, osteoarthritis (OA) of the hip secondary to acetabular dysplasia is very common, and there are few data concerning the pathogeneses and incidence of femoroacetabular impingement (FAI). We have attempted to clarify the radiological prevalence of painful FAI in a cohort of Japanese patients and to investigate the radiological findings. We identified 176 symptomatic patients (202 hips) with Tönnis grade 0 or 1 osteoarthritis, whom we prospectively studied between August 2011 and July 2012. There were 61 men (65 hips) and 115 women (137 hips) with a mean age of 51.8 years (11 to 83). Radiological analyses included the α-angle, centre-edge angle, cross-over sign, pistol grip deformity and femoral head neck ratio. Of the 202 hips, 79 (39.1%) had acetabular dysplasia, while 80 hips (39.6%) had no known aetiology. We found evidence of FAI in 60 hips (29.7%). Radiological FAI findings associated with cam deformity were the most common. There was a significant relationship between the pistol grip deformity and both the α-angle (p < 0.001) and femoral head-neck ratio (p = 0.024). Radiological evidence of symptomatic FAI was not uncommon in these Japanese patients.

  2. A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

    PubMed

    Singh, Ankur; Kim, Ok-Hwa; Iida, Aritoshi; Park, Woong-Yang; Ikegawa, Shiro; Kapoor, Seema

    2015-02-01

    Desbuquois dysplasia (DBQD) is a rare skeletal dysplasia characterized by severe short stature, laxity, dislocation of multiple joints and developmental delay. DBQD is clinically heterogeneous. Distinct radiographic hand abnormalities such as the presence of extra-ossification distal to the second metacarpal or normal hand has led to its classification into types 1 and 2. Furthermore, the third type of DBQD, Kim type has been reported which is characterized by short metacarpals and elongated phalanges. However, DBQD Kim type has been exclusively reported in Japanese and Korean and its clinical characteristics remain to be delineated. Mutations in the calcium-activated nucleotidase 1 (CANT1) gene have been reported in all three types of DBQD. Previously reported patients with DBQD Kim type had a common mutation c.676G>A (p.Val226Met), which had a common founder between Japanese and Korean. Here, we report 3 Indian patients with DBQD, Kim type from 2 families which were unrelated to each other. We identified a novel mutation of CANT1, c.467C>T (p.Ser156Phe), in all the patients in the homozygous form. Our results show that DBQD Kim type is not exclusive to East Asians and also report a novel mutation from the Indian subcontinent.

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

    PubMed

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

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

  4. Patients with isolated oligo/hypodontia caused by RUNX2 duplication.

    PubMed

    Molin, Arnaud; Lopez-Cazaux, Serena; Pichon, Olivier; Vincent, Marie; Isidor, Bertrand; Le Caignec, Cédric

    2015-06-01

    Loss-of-function mutations of RUNX2 are responsible for cleidocranial dysplasia, an autosomal dominant disorder characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicles, moderate short stature and supernumerary teeth. By contrast, an increased gene dosage is expected for duplication of the entire RUNX2 sequence and thus, a phenotype different from cleidocranial dysplasia. To date, two cousins with a duplication including the entire RUNX2 sequence in addition to MIR586, CLIC5 and the 5' half of SUPT3H have been reported. These patients presented with metopic synostosis and hypodontia. Here, we report on a family with an affected mother and three affected children. The four patients carried a 285 kb duplication identified by array comparative genomic hybridization. The duplication includes the entire sequence of RUNX2 and the 5' half of SUPT3H. We confirmed the duplication by real-time quantitative PCR in the four patients. Two children presented with the association of metopic craniosynostosis and oligo/hypodontia previously described, confirming the phenotype caused by RUNX2 duplication. Interestingly, the mother and one child had isolated hypodontia without craniosynostosis, broadening the phenotype observed in patients with such duplications.

  5. Fibrous Dysplasia

    MedlinePlus

    ... hormone), excess growth hormone (gigantism or acromegaly), excess cortisol (Cushing’s syndrome), and other rare conditions. Fibrous dysplasia ... National Institutes of Health (NIH) are studying the natural history of fibrous dysplasia to better understand the ...

  6. Joint kinematics and kinetics during walking and running in 32 patients with hip dysplasia 1 year after periacetabular osteotomy

    PubMed Central

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

    2014-01-01

    Background and purpose — Hip dysplasia can be treated with periacetabular osteotomy (PAO). We compared joint angles and joint moments during walking and running in young adults with hip dysplasia prior to and 6 and 12 months after PAO with those in healthy controls. Patients and methods — Joint kinematics and kinetics were recorded using a 3-D motion capture system. The pre- and postoperative gait characteristics quantified as the peak hip extension angle and the peak joint moment of hip flexion were compared in 23 patients with hip dysplasia (18–53 years old). Similarly, the gait patterns of the patients were compared with those of 32 controls (18–54 years old). Results — During walking, the peak hip extension angle and the peak hip flexion moment were significantly smaller at baseline in the patients than in the healthy controls. The peak hip flexion moment increased 6 and 12 months after PAO relative to baseline during walking, and 6 months after PAO relative to baseline during running. For running, the improvement did not reach statistical significance at 12 months. In addition, the peak hip extension angle during walking increased 12 months after PAO, though not statistically significantly. There were no statistically significant differences in peak hip extension angle and peak hip flexion moment between the patients and the healthy controls after 12 months. Interpretation — Walking and running characteristics improved after PAO in patients with symptomatic hip dysplasia, although gait modifications were still present 12 months postoperatively. PMID:25191933

  7. Ipsilateral Hip Dysplasia in Patients with Sacral Hemiagenesis: A Report of Two Cases

    PubMed Central

    Morimoto, Tadatsugu; Mawatari, Masaaki

    2015-01-01

    Sacral agenesis (SA) is a rare condition consisting of the imperfect development of any part of the sacrum. This paper describes two cases of the rare cooccurrence of ipsilateral SA and developmental dysplasia of the hip (DDH) and analyzes possible contributory factors for SA and DDH. Each of a 16-year-old female and 13-year-old female visited our hospital for left hip pain and limping. The findings of physical examinations showed a lower limb length discrepancy (left side) in both cases, as well as left hip pain without limitations of the range of motion or neurological deficits. Initial radiographs demonstrated left subluxation of the left hip with associated acetabular dysplasia and partial left sacral agenesis. MRI revealed a tethering cord with a fatty filum terminale, and periacetabular osteotomy combined with allogeneic bone grafting was performed. After the surgery, the patients experienced no further pain, with no leg length discrepancy and were able to walk without a limp, being neurologically normal with a normal left hip range of motion. The cooccurrence of SA and DDH suggests a plausible hypothesis to explain the embryogenic relationship between malformation of the sacrum and hip. PMID:25737792

  8. Sports in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy and desmosomal mutations.

    PubMed

    Sawant, A C; Calkins, H

    2015-05-01

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare cardiomyopathy associated with life-threatening arrhythmias and an increased risk of sudden cardiac death. In addition to mutations in desmosomal genes, environmental factors such as exercise and sport have been implicated in the pathogenesis of the disease. Recent studies have shown that exercise may be associated with adverse outcomes in patients with ARVD/C. On the basis of current evidence, patients with ARVD/C are recommended to limit exercise irrespective of their mutation status. Some studies have suggested the presence of an entirely acquired form of the disease caused by exercise, which has been dubbed "exercise-induced ARVD/C."

  9. Burn, freeze, or photo-ablate?: comparative symptom profile in Barrett's dysplasia patients undergoing endoscopic ablation

    NASA Astrophysics Data System (ADS)

    Gill, Kanwar Rupinder S.; Gross, Seth A.; Greenwald, Bruce D.; Hemminger, Lois L.; Wolfsen, Herbert C.

    2009-06-01

    Background: There are few data available comparing endoscopic ablation methods for Barrett's esophagus with high-grade dysplasia (BE-HGD). Objective: To determine differences in symptoms and complications associated with endoscopic ablation. Design: Prospective observational study. Setting: Two tertiary care centers in USA. Patients: Consecutive patients with BE-HGD Interventions: In this pilot study, symptoms profile data were collected for BE-HGD patients among 3 endoscopic ablation methods: porfimer sodium photodynamic therapy, radiofrequency ablation and low-pressure liquid nitrogen spray cryotherapy. Main Outcome Measurements: Symptom profiles and complications from the procedures were assessed 1-8 weeks after treatment. Results: Ten BE-HGD patients were treated with each ablation modality (30 patients total; 25 men, median age: 69 years (range 53-81). All procedures were performed in the clinic setting and none required subsequent hospitalization. The most common symptoms among all therapies were chest pain, dysphagia and odynophagia. More patients (n=8) in the porfimer sodium photodynamic therapy group reported weight loss compared to radio-frequency ablactation (n=2) and cryotherapy (n=0). Four patients in the porfimer sodium photodynamic therapy group developed phototoxicity requiring medical treatment. Strictures, each requiring a single dilation, were found in radiofrequency ablactation (n=1) and porfimer sodium photodynamic therapy (n=2) patients. Limitations: Small sample size, non-randomized study. Conclusions: These three endoscopic therapies are associated with different types and severity of post-ablation symptoms and complications.

  10. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

    PubMed Central

    Lukacs, Viktor; Mathur, Jayanti; Mao, Rong; Bayrak-Toydemir, Pinar; Procter, Melinda; Cahalan, Stuart M.; Kim, Helen J.; Bandell, Michael; Longo, Nicola; Day, Ronald W.; Stevenson, David A.; Patapoutian, Ardem; Krock, Bryan L.

    2015-01-01

    Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema. PMID:26387913

  11. Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.

    PubMed

    Briguglio, Marilena; Pinelli, Lorenzo; Giordano, Lucio; Ferraris, Alessandro; Germanò, Eva; Micheletti, Serena; Severino, Mariasavina; Bernardini, Laura; Loddo, Sara; Tortorella, Gaetano; Ormitti, Francesca; Gasparotti, Roberto; Rossi, Andrea; Valente, Enza Maria

    2011-06-08

    Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce. Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration.These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.

  12. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

    PubMed Central

    2011-01-01

    Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce. Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration. These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech. PMID:21651769

  13. Ellis-Van Creveld Dysplasia

    MedlinePlus

    ... We Offer > Medical Specialties & Services > Skeletal Dysplasia Medical Services Skeletal Dysplasia Definitions Achondroplasia Campomelic Dysplasia Cartilage Hair Hypoplasia Diastrophic Dysplasia ...

  14. CT and MR Imaging in a Large Series of Patients with Craniofacial Fibrous Dysplasia

    PubMed Central

    Atalar, Mehmet Haydar; Salk, Ismail; Savas, Recep; Uysal, Ismail Onder; Egilmez, Hulusi

    2015-01-01

    Summary Background In this retrospective review of patients with craniofacial fibrous dysplasia (FD), the clinical and radiological findings of CT and MR scan were analyzed. Material/Methods The study material included 32 patients, at 9 to 68 years of age that were directed for differential diagnostics of several disorders in the head. We recorded CT and MRI data related to the lesion number, location, sidedness, appearance, and sex of the cases with craniofacial FD. Results Of 32 patients involved in this study, 17 had monostotic and 15 had polyostotic involvement pattern. Bones most commonly involved by monostotic involvement in females were, in descending order, mandibular, maxillary, and sphenoid bones, while the sphenoid bone was involved the most in males. Leontiasis ossea was observed in 2 patients. Sclerotic and mixed lesion types were more common in both females and males. In T1- and T2-weighted MRI sequences, hypointensity was more common compared to hyperintensity or heterogeneous intensity. The type of enhancement of lesions was found similar after contrast medium administration. Conclusions In the presence of craniofacial FD during CT or MRI imaging of the head, a detailed description of FD lesions may provide an important clinical benefit by increasing radiological experience during the diagnostics of this rare disorder. PMID:26000068

  15. Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

    PubMed

    Ferrarini, Alessandra; Gaillard, Muriel; Guerry, Frederic; Ramelli, Gianpaolo; Heidi, Fodstad; Keddache, Caroline Verley; Wieland, Ilse; Beckmann, Jacques S; Jaquemont, Sébastien; Martinet, Danielle

    2014-02-01

    Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively. We here report on a female patient presenting with severe FND features along with partial alopecia, hypogonadism and intellectual disability. While molecular investigations did not reveal mutations in any of the known genes, ALX4, ALX3, ALX1 and EFNB1, comparative genomic hybridization (array CGH) techniques showed a large heterozygous de novo deletion at 11p11.12p12, encompassing the ALX4 gene. Deletions in this region have been described in patients with Potocki-Shaffer syndrome (PSS), characterized by biparietal foramina, multiple exostoses, and intellectual disability. Although the patient reported herein manifests some overlapping features of FND and PPS, it is likely that the observed phenotype maybe due to a second unidentified mutation in the ALX4 gene. The phenotype will be discussed in view of the deleted region encompassing the ALX4 gene.

  16. Expression of TRPC6 and BDNF in Cortical Lesions From Patients With Focal Cortical Dysplasia

    PubMed Central

    Zheng, Da-Hai; Guo, Wei; Sun, Fei-Ji; Xu, Guang-Zhen; Zang, Zhen-Le; Shu, Hai-Feng

    2016-01-01

    Focal cortical dysplasia (FCD) likely results from abnormal migration of neural progenitor cells originating from the subventricular zone. To elucidate the roles in molecules that are involved in neural migration pathway abnormalities in FCDs, we investigated the expression patterns of transient receptor potential canonical channel 6 (TRPC6) and brain-derived neurotrophic factor (BDNF) in cortical lesions from FCD patients and in samples of normal control cortex. TRPC6 and BDNF mRNA and protein levels were increased in FCD lesions. By immunohistochemistry, they were strongly expressed in microcolumns, heterotopic neurons, dysmorphic neurons, and balloon cells (BCs). Colocalization assays revealed that most of the misshapen TRPC6-positive or heterotopic cells had a neuronal lineage with the exception of TRPC6-positive FCDiib patient BCs, which had both neuronal and glial features. Most TRPC6-positive cells were glutamatergic neurons. There was also greater expression of calmodulin-dependent kinase IV (CaMKIV), the downstream factor of TRPC6, in FCD lesions, suggesting that TRPC6 expression promoted dendritic growth and the development of dendritic spines and excitatory synapses via the CaMKIV-CREB pathway in FCD. Thus, overexpression of BDNF and TRPC6 and activation of the TRPC6 signal transduction pathway in cortical lesions of FCD patients may contribute to FC pathogenesis and epileptogenesis. PMID:27288906

  17. Prompt clinical and biochemical response to denosumab in a young adult patient with craniofacial fibrous dysplasia

    PubMed Central

    Eller-Vainicher, Cristina; Rossi, Diego Sergio; Guglielmi, Giuseppe; Beltramini, Giada Anna; Cairoli, Elisa; Russillo, Antonio; Mantovani, Giovanna; Spada, Anna; Chiodini, Iacopo

    2016-01-01

    Summary Background We report on the clinical and biochemical outcomes in a 20-year-old male suffering from active craniofacial monostotic fibrous dysplasia (MFD) of the left mandible treated with the RANK-L inhibitor, denosumab, following unsatisfactory responses to prior long-term bisphosphonates therapy. Results The patient had been treated over 9 years with pamidronate (cumulative dose of 810 mg) with incomplete control of pain. Following initiation of denosumab 60 mg subcutaneously, bone pain and bone turnover markers (osteocalcin, total and bone alkaline phosphatase and carboxy-terminal cross-linking telopeptide of type I collagen) were monitored over a 27 months period. Few hours after the first administration, the patient demonstrated a complete pain disappearance and after 4 weeks bone turnover markers fell within the normal range. Three months after denosumab initiation the patient reported a pain reactivation that required a second administration, which again led to the pain disappearance. Subsequently, denosumab was administered according to the pain reappearance and the injection was always followed by complete pain relief. However, a gradual shortening of the pain-free interval between administrations was observed, ranging from 90 to 75 days. All bone turnover markers stayed in the lower half of the normal range, even at the moment of pain reappearance, suggesting that the effect of denosumab on pain depends on mechanisms other than bone resorption suppression. No side effects were reported by the patient during the follow-up. Conclusion Denosumab appears to be effective in reducing bone turnover and bone pain in adult patients with active MFD. PMID:28228794

  18. Cervical Dysplasia

    MedlinePlus

    ... dysplasia be prevented or avoided? There are three HPV vaccines approved by the U.S. Food and Drug Administration ( ... should get vaccinated before becoming sexually active. The HPV vaccine is proven to lower your risk of HPV. ...

  19. Phenotypic expressions of a Gly154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD)

    SciTech Connect

    Kaitila, I.; Marttinen, E.; Koerkkoe, J.; Ala-Kokko, L.

    1996-05-03

    Type II collagenopathies consist of chondrodysplasia ranging from lethal to mild in severity. A large number of mutations has been found in the COL2A1 gene. Glycine substitutions have been the most common types of mutation. Genotype-phenotype correlations in type II collagenopathies have not been established, partly because of insufficient clinical and radiographic description of the patients. We found a glycine-to-arginine substitution at position 154 in type II collagen in two unrelated isolated propositi with spondyloepimetaphyseal dysplasia and provide a comparative clinical and radiographic analysis from birth to young adulthood for this condition. The clinical phenotype was disproportionate short stature with varus/valgus deformities of the lower limbs requiring corrective osteotomies, and lumbar lordosis. The skeletal radiographs showed an evolution from short tubular bones, delayed epiphyseal development, and mild vertebral involvement to severe metaphyseal dysplasia with dappling irregularities, and hip {open_quotes}dysplasia.{close_quotes} The metaphyseal abnormalities disappeared by adulthood. 27 refs., 11 figs., 1 tab.

  20. [Characteristic of inflammatory infiltrate of gastric mucosa in patients with grade II-III gastric dysplasia and of stomach cancer].

    PubMed

    Evtushenko, V A; Vusik, M V; Karakeshisheva, M B; Pleshko, R I; Ermolaeva, L A

    2008-01-01

    The study included 85 inpatients and outpatients in whom composition of inflammatory infiltrate from gastric mucosa (GM) was determined at the Oncological Research Institute, Tomsk Research Centre of the Siberian Division, Russian Academy of Medical Sciences. The patients were allocated to 4 groups depending on nosological form of the disease. Group 1 comprised 21 patients with grade II-III GM epithelial dysplasia, group 2 - 24 patients having stomach cancer (histologically confirmed adenocarcinoma), group 3 - 19 patients with stage II-III mucinous gastric carcinoma, group 4 - 20 allegedly healthy subjects without signs of gastrointestinal pathology. It was shown that dysplastic processes in GM are associated with an increase of neutrophil, eosinophil, macrophage, and mast cell count along with a drop in the number of lymphocytes and plasmocytes. Stroma of invasive stomach cancer underwent intense inflammatory infiltration accompanied by a rise in the number of lymphocytes, plasmocytes, and neutrophils. Mucinous gastric carcinoma was characterized by an increase of the number of neutrophils and macrophages. Patients having adenocarcinoma of the stomach showed enhanced plasmocytic infiltration by plasmocytes with a low number of eosinophils and mast cells. It is concluded that characteristics of inflammatory GM infiltrate may be useful for the objective assessment of stomach cancer risk in patients with GM dysplasia, formation of a high oncological risk group, adequate dynamic monitoring and treatment of these patients.

  1. Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia.

    PubMed

    Juergens, Philipp; Ratia, Javier; Beinemann, Jörg; Krol, Zdzislaw; Schicho, Kurt; Kunz, Christoph; Zeilhofer, Hans-Florian; Zimmerer, Stephan

    2011-09-01

    Craniometaphyseal dysplasia is an extremely rare, genetic bone-remodeling disorder. Comparable to osteopetrosis, fibrous dysplasia, and other infrequent conditions, craniometaphyseal dysplasia is characterized by progressive diffuse hyperostosis of the neuro- and viscerocranium. Affected patients present with a pathognomonic dysmorphia: macrocephalus, hypertelorism, bulky facial skeleton, and a prominent mandible. Progressive thickening and petrification of the craniofacial bones can continue throughout life, often resulting in neurological symptoms due to obstruction of the cranial nerves in the foramina and therefore immediately requiring neurosurgical interventions to avoid persistent symptoms with severe impairment of function. Treatment is largely infeasible given the lack of suitable tools to perform a craniotomy through the gross calvarial bone. In this paper, the authors present a complete process chain from the CT-based generation of an individual patient's model displaying his pathology to optimized preoperative planning of the skull's shape with a thickness of about 6-7 mm. For concise verification of the surgical plan in an operating room environment, a 3D real-time navigation prototype system was utilized. To guarantee realization of the surgery in a reasonable time frame, the mechanical tools were preoperatively selected for optimizing the ablation rate in porcine and bovine bone, which were comparable to that in the patient. This process chain was developed in a modular way, so that it could be easily adopted completely or partially for other surgical indications. A 21-year-old man was treated according to this sophisticated concept. Skull bone more than 50 mm thick in some regions was reduced to physiological thickness. The patient was thus in a stage that neurosurgical interventions could be performed with a regular risk within a reasonable time of treatment.

  2. Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients

    PubMed Central

    Zeng, Binghui; Xiao, Xue; Li, Sijie; Lu, Hui; Lu, Jiaxuan; Zhu, Ling; Yu, Dongsheng; Zhao, Wei

    2016-01-01

    Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the teeth, hair, and sweat glands. Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and HED has not yet been validated. In this study, we included patients who presented at least two of the three ectodermal dysplasia features. The four genes were analyzed in seven HED patients by PCR and Sanger sequencing. Five EDA and one EDAR heterozygous mutations were identified in families 1–6. Two WNT10A heterozygous mutations were identified in family 7 as a compound heterozygote. c.662G>A (p.Gly221Asp) in EDA and c.354T>G (p.Tyr118*) in WNT10A are novel mutations. Bioinformatics analyses results confirmed the pathogenicity of the two novel mutations. In family 7, we also identified two single-nucleotide polymorphisms (SNPs) that were predicted to affect the splicing of EDAR. Analysis of the patient’s total RNA revealed normal splicing of EDAR. This ascertained that the compound heterozygous WNT10A mutations are the genetic defects that led to the onset of HED. Our data revealed the genetic basis of seven HED patients and expended the mutational spectrum. Interestingly, we confirmed WNT10A as a candidate gene of HED and we propose WNT10A to be tested in EDA-negative HED patients. PMID:27657131

  3. Genetics Home Reference: campomelic dysplasia

    MedlinePlus

    ... Pierre Robin sequence includes an opening in the roof of the mouth ( a cleft palate ), a tongue ... PubMed Central Nelson ME, Griffin GR, Innis JW, Green GE. Campomelic dysplasia: airway management in two patients ...

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

    PubMed Central

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

    2014-01-01

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

  5. Cytochrome c oxidase deficit is associated with the seizure onset zone in young patients with focal cortical dysplasia Type II.

    PubMed

    Miles, Lili; Greiner, Hansel M; Mangano, Francesco T; Horn, Paul S; Leach, James L; Miles, Michael V

    2015-10-01

    It has been postulated that mitochondrial dysfunction may be an important factor in epileptogenesis of intractable epilepsy. The current study tests the hypothesis that mitochondrial Complex IV (CIV) or cytochrome c oxidase dysfunction is associated with the seizure onset zone (SOZ) in patients with focal cortical dysplasia (FCD). Subjects were selected based on: age <19y; epilepsy surgery between May, 2010 and October, 2011; pathological diagnosis of isolated focal cortical dysplasia Type I (FCDI) or Type II (FCDII); and sufficient residual cortical tissue to conduct analysis of electron transport chain complex (ETC) activity in SOZ and adjacent cortical regions. In this retrospective study, patients were identified who had sufficient unfixed, frozen brain tissue for biochemical analysis in tissue homogenates. Specimens were subtyped using ILAE classification for FCD, and excluded if diagnosed with FCD Type III or dual pathology. Analysis of ETC activity in resected tissues was conducted independently and without knowledge of the identity, diagnosis, or clinical status of individual subjects. Seventeen patients met the inclusion criteria, including 6 FCDI and 11 FCDII. Comparison of adjacent cortical resections showed decreased CIV activity in the SOZ of the FCDII group (P = 0.003), but no significant CIV difference in adjacent tissues of the FCDI group. Because of the importance of CIV as the terminal and rate-limiting complex in the mitochondrial electron transport chain, these authors conclude that 1) a deficit of CIV is associated with the SOZ of patients with FCDII; 2) CIV deficiency may contribute to the spectrum of FCD neuropathology; and 3) further investigation of CIV in FCD may lead to the discovery of new targets for neuroprotective therapies for patients with intractable epilepsy.

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) is a developmental disorder of the lungs, primarily affecting their vasculature. FOXF1 haploinsufficiency due to heterozygous genomic deletions and point mutations have been reported in most patients with ACDMPV. The majority...

  7. PET-positive fibrous dysplasia--a potentially misleading incidental finding in a patient with intimal sarcoma of the pulmonary artery.

    PubMed

    Strobel, Klaus; Bode, Beata; Lardinois, Didier; Exner, Ulrich

    2007-06-01

    Benign bone tumors can show an increased FDG uptake in FDG-PET/CT investigations. In the presented case, an incidentally detected PET-positive asymptomatic fibrous dysplasia was initially misinterpreted as a metastasis in a patient with intimal sarcoma of the pulmonary artery.

  8. Skeletal Dysplasias

    PubMed Central

    Krakow, Deborah

    2015-01-01

    Synoposis The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care it is important to determine a precise diagnosis to aid in management, familial recurrence and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities and these children are best served by a team approach to health care surveillance. PMID:26042906

  9. ‘Double Trouble’: Diagnostic Challenges in Duchenne Muscular Dystrophy in Patients with an Additional Hereditary Skeletal Dysplasia

    PubMed Central

    Donkervoort, Sandra; Schindler, Alice; Tesi-Rocha, Carolina; Schreiber, Allison; Leach, Meganne E.; Dastgir, Jahannaz; Hu, Ying; Mankodi, Ami; Wagner, Kathryn R.; Friedman, Neil R.; Bönnemann, Carsten G.

    2015-01-01

    Duchenne muscular dystrophy (DMD) is caused by mutations Dystrophin and affects 1 in 3600-6000 males. It is characterized by progressive weakness, leading to loss of ambulation, respiratory insufficiency, cardiomyopathy, and scoliosis. We describe the unusual phenotype of 3 patients with skeletal dysplasias in whom an additional diagnosis of DMD was later established. Two unrelated boys presented with osteogenesis imperfecta due to point mutations in COL1A1 and were both subsequently found to have a 1bp frameshift deletion in the Dystrophin gene at age 3 and age 15, respectively. The third patient had a diagnosis of pseudoachondroplasia caused by a mutation in the COMP gene and was found to have a deletion of exons 48-50 in Dystrophin at age 9. We discuss the atypical presentation caused by the concomitant presence of 2 conditions affecting the musculoskeletal system, emphasizing aspects that may confound the presentation of a well-characterized disease like DMD. Additional series of patients with DMD and a secondary inherited condition are necessary to establish the natural history in this “double trouble” population. The recognition and accurate diagnosis of patients with two independent genetic disease processes is essential for management, prognosis, genetic risk assessment, and discussion regarding potential therapeutic interventions. PMID:24070816

  10. Outcome of oral dysplasia: a retrospective hospital-based study of 207 patients with a long follow-up.

    PubMed

    Arduino, Paolo G; Surace, Antonio; Carbone, Mario; Elia, Alessandra; Massolini, Gianluca; Gandolfo, Sergio; Broccoletti, Roberto

    2009-07-01

    The aim of this retrospective hospital-based study was to review and evaluate the long-term outcome of patients with oral epithelial dysplasia (OED), with or without surgical intervention, to identify factors affecting clinical course and malignant evolution. Patients with a follow-up of at least 12 months were included. Data collected were statistically analyzed. The mean age was 63.58 years for women (n = 100) and 64.17 years for men (n = 107). One hundred and thirty-five of the patients had lesions with histopathological features of mild OED, 50 had moderate OED and 22 had severe OED. Gender and risk factors seemed not to be related with the development of OED. One hundred and thirty-three patients underwent active treatment. During the period considered, 39.4% of the 207 lesions disappeared; 19.66% remained stable and 33.7% of the total cases showed a new dysplastic event after treatment. Fifteen (7.24%) out of 207 developed a squamous cell carcinoma during follow-up. Our data showed that speckled lesions are more often associated with high histological grade. The risk of malignant development does not seem to be predictable. Surrounded by the limitations of the retrospective designs, we have showed that there is no eminent benefit of surgical intervention of OED in preventing recurrences and malignant development.

  11. [Fibrous dysplasia].

    PubMed

    Rödl, R; Götze, C

    2008-01-01

    Fibrous dysplasia is a tumorlike, benign lesion, caused by sporadic mutation during early embryogenesis. The skeletal involvement becomes increasingly visible during growth. The number and extent of dysplastic lesions increase until the age of 15. The polyostotic form is often associated with endocrine dysfunction, which should be diagnosed and treated early. Malignant transformation of fibrous dysplastic lesions is less than 1%; therefore, treatment or resection of the lesion itself is not necessary. The progress of the lesions during growth can lead to pain, fractures, and deformities. Bisphosphonates are effective for pain relief, but have no assured effect on the natural history of the disease. Fracture healing is not compromised by the disease. Conservative treatment with casts is therefore effective, especially for the upper limbs. The surgical approach with deformity correction and stabilization remains challenging particularly with regard to the proximal femur. Intramedullary devices should be preferred to plates, if possible.

  12. [Craniofacial fibrous dysplasia].

    PubMed

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

    2016-12-01

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

  13. Association of smoking with phenotype at diagnosis and vascular interventions in patients with renal artery fibromuscular dysplasia.

    PubMed

    Savard, Sébastien; Azarine, Arshid; Jeunemaitre, Xavier; Azizi, Michel; Plouin, Pierre-François; Steichen, Olivier

    2013-06-01

    The pathogenesis of fibromuscular dysplasia (FMD) remains unclear, but tobacco use is thought to be involved. This retrospective cross-sectional study aimed to evaluate smoking first as a risk factor for renal artery FMD diagnosis and second as a modifier of the clinical and radiological phenotype of this disease. We retrieved 337 adult patients diagnosed with FMD in a referral center for hypertension management, who were first individually matched to controls with essential hypertension for sex, age, systolic blood pressure, number of antihypertensive drugs, and year of visit. Smoking status and other relevant data were collected at first visit. The proportion of current smokers was higher for patients with FMD than for the controls (30% and 18%, respectively, P<0.001; odds ratio, 2.5 [95% confidence interval, 1.6-3.9]). Second, characteristics of FMD were compared between current smokers and other patients. Among patients with multifocal FMD, current smokers experienced an earlier diagnosis of hypertension (36 versus 42 years, respectively; P<0.001) and FMD (43 versus 51 years; P<0.001) than other patients, and a greater likelihood of renal artery interventions (57% versus 31%; P<0.001) and of kidney asymmetry (21% versus 4%; P=0.001). In conclusion, current smoking is associated with a higher likelihood of renal artery FMD diagnosis. Rather than a higher incidence of FMD, this may reflect a more aggressive course in smokers, who have earlier hypertension leading to increased and earlier recognition of the disease. Smoking cessation should be strongly encouraged in patients with FMD.

  14. Chondroectodermal Dysplasia: A Rare Syndrome

    PubMed Central

    Tahririan, Dana; Eshghi, Alireza; Givehchian, Pirooz; Tahririan, Mohammad Ali

    2014-01-01

    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. PMID:25628672

  15. Oculodentodigital dysplasia

    PubMed Central

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

    2016-01-01

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

  16. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

    PubMed

    Mäkitie, Outi; Mortier, Geert R; Czarny-Ratajczak, Malwina; Wright, Michael J; Suri, Mohnish; Rogala, Piotr; Freund, Margarida; Jackson, Gail C; Jakkula, Eveliina; Ala-Kokko, Leena; Briggs, Michael D; Cole, William G

    2004-03-15

    Multiple epiphyseal dysplasia (MED) is characterized by pain and stiffness in joints and delayed and irregular ossification of epiphyses. Causative mutations have been recognized in six different genes. We have identified disease-causing mutations in the gene encoding matrilin-3, an extracellular matrix protein, in seven families with autosomal dominant MED. Review of the clinical and radiographic features in 12 of the affected family members shows a uniform pattern of skeletal anomalies in all patients with considerable degree of variability in severity, both between and within families. The characteristic clinical findings are onset of symptoms in early childhood with predominance of knee and hip related complaints, normal stature, and early-onset osteoarthritis. Radiographs show small and irregular epiphyses and mild metaphyseal irregularities and striations, especially at the knees and hips and mild spinal changes. Despite overlap, both clinically and radiographically, with other forms of MED, the described features may help to differentiate this particular form from other entities within the MED spectrum.

  17. Expression of pannexin 1 and 2 in cortical lesions from intractable epilepsy patients with focal cortical dysplasia

    PubMed Central

    Li, Song; Zang, Zhenle; He, Jiaojiang; Chen, Xin; Yu, Sixun; Pei, Yuchun; Hou, Zhi; An, Ning; Yang, Hui; Zhang, Chunqing; Liu, Shiyong

    2017-01-01

    Focal cortical dysplasia (FCD) is a major cause of intractable epilepsy in children however the mechanisms underlying the pathogenesis of FCD and FCD induced epilepsy remain unclear. Increasing evidence suggests that the large-pore ion channels, pannexin 1 (Panx1) and 2 (Panx2), are involved in epilepsy and brain development. In this study, we investigated the expression of Panx1 and Panx2 in surgical samples from patients with FCD type Ia (FCDIa), type IIa (FCDIIa), and type IIb (FCDIIb) and in age-matched autopsy control samples. We found Panx1 mRNA and protein levels were both increased in all these FCD samples. Immunohistochemical analyses revealed that Panx1 was mainly distributed in microcolumn neurons, dysmorphic neurons (DNs), balloon cells (BCs) and reactive astrocytes. Double-labeled staining showed that the Panx1-positive neurons were mostly glutamatergic DNs and occasionally GABAergic normal-appearing neurons. Importantly, the protein levels of Panx1 positively correlated with the frequency of seizures. Intriguingly, the Panx2 mRNA and protein levels were only upregulated in FCDIIb lesions and characteristically expressed on SOX2-positive multipotential BCs. Immunofluorescent experiments identified that Panx2-positive BCs mainly expressed the neuronal differentiation transcription factor MASH1 but not the immature glial marker vimentin. Taken together, our results established a potential role of the specific expression and cellular distribution patterns of Panx1 and Panx2 in FCD-associated epileptogenesis and pathogenesis. PMID:28036289

  18. Three-dimensional morphology and bony range of movement in hip joints in patients with hip dysplasia.

    PubMed

    Nakahara, I; Takao, M; Sakai, T; Miki, H; Nishii, T; Sugano, N

    2014-05-01

    To confirm whether developmental dysplasia of the hip has a risk of hip impingement, we analysed maximum ranges of movement to the point of bony impingement, and impingement location using three-dimensional (3D) surface models of the pelvis and femur in combination with 3D morphology of the hip joint using computer-assisted methods. Results of computed tomography were examined for 52 hip joints with DDH and 73 normal healthy hip joints. DDH shows larger maximum extension (p = 0.001) and internal rotation at 90° flexion (p < 0.001). Similar maximum flexion (p = 0.835) and external rotation (p = 0.713) were observed between groups, while high rates of extra-articular impingement were noticed in these directions in DDH (p < 0.001). Smaller cranial acetabular anteversion (p = 0.048), centre-edge angles (p < 0.001), a circumferentially shallower acetabulum, larger femoral neck anteversion (p < 0.001), and larger alpha angle were identified in DDH. Risk of anterior impingement in retroverted DDH hips is similar to that in retroverted normal hips in excessive adduction but minimal in less adduction. These findings might be borne in mind when considering the possibility of extra-articular posterior impingement in DDH being a source of pain, particularly for patients with a highly anteverted femoral neck.

  19. [Study of the clonal origin and development of MDS by FISH analysis of dysplasia cells in bone marrow of patients with MDS].

    PubMed

    Fu, Chun-Mei; Chen, Zi-Xing; Liu, Dan-Dan; Zhang, Jun; Pan, Jin-Lan

    2013-06-01

    This study was purpose to explore whether the dysplasia of myelodysplastic syndromes (MDS) is unspecific feature or results of the abnormal clone, and to provide the evaluation of abnormal clone changes in bone marrow cells of MDS patients. The dysplasia cells in bone marrow smears was analyzed by morphologic observation, the clonal origin and development in 16 cases of MDS with abnormality of chromosome karyotypes were investigated by FISH combined with morphologic observation. The results found that both the dysplastic and nondysplastic bone cells displayed abnormal clones in the erythroid and granulocytic cells. The dysplastic bone marrow cells displayed more abnormal clones than the nondysplastic bone marrow cells in most of the patients, and the abnormal clones displayed more dysplastic cells than the normal clones. Most of the dysplastic and nondysplastic megakaryocytes were derived from abnormal clones. The abnormal clone showed a decreasing trend from the primitive stage to the terminal stage of cell differentiation. It is concluded that there is a correlation between the dysplastic cells and the abnormal clones in MDS, but the dysplasia of bone marrow cells is not a specific feature. The abnormal clones can differentiate into mature granulocytes and erythrocytes, and can be in coexistence with cells originated from the normal clones.

  20. Maturation-Based Model of Arrhythmogenic Right Ventricular Dysplasia Using Patient-Specific Induced Pluripotent Stem Cells.

    PubMed

    Wen, Jian-Yan; Wei, Chuan-Yu; Shah, Khooshbu; Wong, Johnson; Wang, Cheng; Chen, Huei-Sheng Vincent

    2015-01-01

    Cellular reprogramming of somatic cells to patient-specific induced pluripotent stem cells (iPSCs) enables in-vitro modeling of human cardiac disorders for pathogenic and therapeutic investigations. However, using iPSC-derived cardiomyocytes (iPSC-CMs) to model an adult-onset heart disease remains challenging because of the uncertainty regarding the ability of relatively immature iPSC-CMs to fully recapitulate adult disease phenotypes. Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by pathological fibrofatty infiltration and cardiomyocyte (CM) loss predominantly in the right ventricle (RV), leading to heart failure and lethal arrhythmias. Over 50% of affected individuals have desmosome gene mutations, most commonly inPKP2encoding plakophilin-2. Using Yamanaka's pluripotent factors, we generated iPSC lines from ARVD patients withPKP2mutations. We first developed a method to induce metabolic maturation of iPSC-CMs and showed that induction of adult-like metabolic energetics from an embryonic/glycolytic state is essential to model an adult-onset cardiac disease using patient-specific iPSCs. Furthermore, we showed that coactivation of normal peroxisome proliferator-activated receptor (PPAR)-α and abnormal PPARγ pathways in ARVD iPSC-CMs resulted in exaggerated CM lipogenesis, CM apoptosis, Na(+)channel downregulation and defective intracellular calcium handling, recapitulating the pathological signatures of ARVD. Using this model, we revealed novel pathogenic insights that metabolic derangement in an adult-like metabolic milieu underlies ARVD pathologies, enabling us to propose novel disease-modifying therapeutic strategies.

  1. Factors associated with an unfavourable outcome after Salter innominate osteotomy in patients with unilateral developmental dysplasia of the hip: does occult dysplasia of the contralateral hip affect the outcome?

    PubMed

    Kaneko, H; Kitoh, H; Mishima, K; Matsushita, M; Kadono, I; Ishiguro, N; Hattori, T

    2014-10-01

    Salter innominate osteotomy is an effective reconstructive procedure for the treatment of developmental dysplasia of the hip (DDH), but some children have a poor outcome at skeletal maturity. In order to investigate factors associated with an unfavourable outcome, we assessed the development of the contralateral hip. We retrospectively reviewed 46 patients who underwent a unilateral Salter osteotomy at between five and seven years of age, with a mean follow-up of 10.3 years (7 to 20). The patients were divided into three groups according to the centre-edge angle (CEA) of the contralateral hip at skeletal maturity: normal (> 25°, 22 patients), borderline (20° to 25°, 17 patients) and dysplastic (< 20°, 7 patients). The CEA of the affected hip was measured pre-operatively, at eight to nine years of age, at 11 to 12 years of age and at skeletal maturity. The CEA of the affected hip was significantly smaller in the borderline and dysplastic groups at 11 and 12 years of age (p = 0.012) and at skeletal maturity (p = 0.017) than in the normal group. Severin group III was seen in two (11.8%) and four hips (57.1%) of the borderline and dysplastic groups, respectively (p < 0.001). Limited individual development of the acetabulum was associated with an unfavourable outcome following Salter osteotomy.

  2. Pseudoachondroplastic Dysplasia

    PubMed Central

    Stevens, Jeff W

    1999-01-01

    Lamellar inclusions of the rough endoplasmic reticulum in growth plate chondrocytes, first identified (1972) in the Department of Orthopaedic Surgery, University of Iowa, has become the cytochemical hallmark for the pseudoachondroplastic dysplasia (PSACH) phenotype, linking an endoplasmic reticulum storage disorder with the osteochondrodysplasia. Since this original observation, great advances have been made, leading to the molecular understanding of this altered longitudinal bone growth anomaly. A PSACH canine model suggested that abatement of cumulative vertical growth of growth plate chondrocytes seen in PSACH results from (1) altered extracellular matrix constraints for horizontal growth and (2) uncoupling of endochondral and perichondral growth that causes metaphyseal flaring. PSACH, an autosomal dominant disease, is linked to mutation of the cartilage oligomeric matrix protein (COMP) gene. Amino acid substitutions, deletions, or additions is proposed to alter COMP structure that cause its retention in the rough endoplasmic reticulum of growth plate chondrocytes, leading to (1) compositional and structural change of the extracellular matrix, and (2) altered cellular proliferation and volume expansion. Normal growth and development occurs in COMP gene knockout mice that do not synthesis COMP, demonstrating that a mutant COMP, not absence of COMP, is required for the PSACH phenotype. The mechanism by which mutant COMP induces a PSACH phenotype remains to be elucidated. At the University of Iowa a cell culture system has been developed whereby mutant COMP transgenes are introduced into chondrocytes and the expressed product COMP is retained in the endoplasmic reticulum. This readily manipulated system makes it possible to decipher systematically the system's cellular secretory processing pathway, in order to clarify the mechanism(s) by which the mutant COMP is retained within the endoplasmic reticulum. Concurrent with this is the development of transgenic mice

  3. Dilemmas in imaging for peri-acetabular osteotomy: the influence of patient position and imaging technique on the radiological features of hip dysplasia.

    PubMed

    Kosuge, D; Cordier, T; Solomon, L B; Howie, D W

    2014-09-01

    Peri-acetabular osteotomy is an established surgical treatment for symptomatic acetabular dysplasia in young adults. An anteroposterior radiograph of the pelvis is commonly used to assess the extent of dysplasia as well as to assess post-operative correction. Radiological prognostic factors include the lateral centre-edge angle, acetabular index, extrusion index and the acetabular version. Standing causes a change in the pelvis tilt which can alter certain radiological measurements relative to the supine position. This article discusses the radiological indices used to assess dysplasia and reviews the effects of patient positioning on these indices with a focus on assessment for a peri-acetabular osteotomy. Intra-operatively, fluoroscopy is commonly used and the implications of using fluoroscopy as a modality to assess the various radiological indices along with the effects of using an anteroposterior or posteroanterior fluoroscopic view are examined. Each of these techniques gives rise to a slightly different image of the pelvis as the final image is sensitive to the position of the pelvis and the projection of the x-ray beam.

  4. Benign fibrous dysplasia on [(11)C]choline PET: a potential mimicker of disease in patients with biochemical recurrence of prostate cancer.

    PubMed

    Gu, Chris N; Hunt, Christopher H; Lehman, Vance T; Johnson, Geoffrey B; Diehn, Felix E; Schwartz, Kara M; Eckel, Laurence J

    2012-08-01

    We present the case of a 74-year-old male with biochemical recurrence of prostate cancer who underwent [(11)C]choline PET/CT. The PET/CT demonstrated an intense focus of uptake within the skull base that was initially felt to potentially represent metastatic disease. Subsequent evaluation with MRI and dedicated thin-section CT revealed this area to be benign fibrous dysplasia of the bone. The focal uptake on PET/CT with [(11)C]choline in benign fibrous dysplasia represents a potential mimicker of metastatic disease. Due to recognizing this benign process, our patient was able to avoid systemic treatment and/or focal radiation and was treated with cryotherapy for biopsy-proven local recurrence within the prostate bed. While benign fibrous dysplasia can demonstrate increased radiotracer uptake on other modalities (i.e., bone scintigraphy, FDG PET/CT), its appearance on [(11)C]choline PET/CT has been largely overlooked in the literature. With the increasing use of [(11)C]choline PET/CT for biochemical recurrent prostate cancer evaluation, it is important to understand this potential mimicker of disease.

  5. Syndrome of symptomatic adult acetabular dysplasia (SAAD syndrome)

    PubMed Central

    Birrell, F; Silman, A; Croft, P; Cooper, C; Hosie, G; Macfarlane, G

    2003-01-01

    Design: Cross sectional analysis of a prospective cohort. Setting: 35 general practices across the UK. Subjects: 195 patients (63 male, 132 female) aged 40 years and over presenting with a new episode of hip pain Results: The prevalence of acetabular dysplasia in this study of new presenters with hip pain was high (32%). There was no significant relationship between acetabular dysplasia and radiographic OA overall. Conclusions: The high prevalence of acetabular dysplasia across all grades of OA severity suggests that dysplasia itself may be an important cause of hip pain ("symptomatic adult acetabular dysplasia"). PMID:12634238

  6. Neurocysticercosis and microscopic hippocampal dysplasia in a patient with refractory mesial temporal lobe epilepsy.

    PubMed

    da Silva, Alexandre Valotta; Martins, Heloise Helena; Marques, Carolina Mattos; Yacubian, Elza Marcia Targas; Sakamoto, Américo Ceiki; Carrete, Henrique; da Silva Centeno, Ricardo; Stavale, João Norberto; Cavalheiro, Esper Abrão

    2006-06-01

    Epidemiologic studies suggest that neurocysticercosis (NC) is the main cause of symptomatic epilepsy in developing countries. The association between NC and mesial temporal lobe epilepsy (MTLE) has been reported by several authors. Recent data have shown that the presence of NC does not influence the clinical and pathological profile in MTLE patients and suggest that not all cysticercotic lesions are inevitably epileptogenic. We describe a 50-years-old woman with partial seizures due to NC which evolve to MTLE. The patient was submitted to a corticoamygdalohippocampectomy to treat refractory epilepsy. An immunohistochemical study using neuronal markers was made on hippocampal formation. Besides the typical aspects of Ammon's horn sclerosis (AHS), the microscopic examination demonstrates cellular features of hippocampal malformation including dysmorphic neurons and focal bilamination of granular cell layer. We suggest that, in this case, a developmental disorder lowered the threshold for the NC-induced seizures and contributed to the establishment of refractory epilepsy.

  7. VEGF +936 C/T Genetic Polymorphism in Patients with Cervical Dysplasia

    PubMed Central

    Dumitras, Diana Elena; Popp, Radu Anghel; Petrisor, Felicia Maria; Cotutiu, Paul; Stamatian, Florin

    2016-01-01

    Aim. The present study aims to analyze the potential role of VEGF +936 C/T polymorphism in cervical intraepithelial neoplasia. Material and Method. One hundred and eighty-six patients were included in the study: 75 cases (patients diagnosed with CIN) and 111 controls (negative for both HPV testing and cytology). For each patient a single visit was scheduled when colposcopy was performed. From cervical specimen, cytology and HPV testing were performed and from peripheral blood VEGF +936 genotyping was determined. For statistical analysis purposes OR and chi-square were used at a level of significance of <0.05. Results. No link has been found in the detection of CT genotype in cases versus controls, OR = 0.8295, [0.42, 1.62]. An inverse correlation has been found between T allele and HSIL, OR = 0.2121, [0.0473, 0.9517], p = 0.0866. Conclusion. No link has been found between VEGF +936 C/T and cervical intraepithelial neoplasia. PMID:27812483

  8. [Spondyloepiphyseal and metaphyseal dysplasia].

    PubMed

    Wirth, T

    2008-01-01

    Spondyloepiphyseal, metaphyseal and spondylometaphyseal dysplasias are a group of hereditary skeletal diseases, which lead to small stature, axial deformities of the lower extremities and spinal deformities. They differ in pathophysiology, heredity and in their clinical and radiologic appearance. The orthopaedic surgeon treats the spinal manifestations and the axial malalignment of the disease. Among the spinal deformities there are instabilities of the upper cervical spine as well as structural deformities like kyphosis and scoliosis. More frequently, the axial malalignment caused by congenital coxa vara, severe genu varum or genu valgum requires treatment. These deformities are managed by corrective osteotomies of the proximal femur, supracondylar or proximal tibial osteotomies around the knee and by temporary epiphyseodeses. Despite a high recurrence rate requiring repeated surgery the patients report great satisfaction with the treatment results. Well-timed orthopaedic treatment helps avoid or delay the inevitable long-term sequelae of untreated patients such as painful degenerative changes of the spine or early onset of severe osteoarthritis.

  9. Fibrous dysplasia and cherubism

    PubMed Central

    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 "pirate sign" in fibrous dysplasia.

    PubMed

    Singnurkar, Amit; Rush, Chris

    2006-11-01

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

  11. Catheter Ablation of Ventricular Tachycardia/Fibrillation in a Patient with Right Ventricular Amyloidosis with Initial Manifestations Mimicking Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

    PubMed Central

    Chung, Fa-Po; Lin, Yenn-Jiang; Kuo, Ling

    2017-01-01

    Differentiating arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) from other cardiomyopathies is clinically important but challenging. Although the modified Task Force Criteria can facilitate diagnosis of ARVD/C according to clinical manifestations, histopathological examination plays a pivotal role in excluding other diseases that can mimic ARVD/C. Here, we report a patient with amyloidosis that initially presented similarly to ARVD/C. The diagnosis was confirmed by endomyocardial biopsy, and catheter ablation eliminated the ventricular tachyarrhythmias through an epicardial approach. PMID:28382086

  12. Multilineage dysplasia is associated with a poorer prognosis in patients with de novo acute myeloid leukemia with intermediate-risk cytogenetics and wild-type NPM1.

    PubMed

    Rozman, María; Navarro, José-Tomás; Arenillas, Leonor; Aventín, Anna; Giménez, Teresa; Alonso, Esther; Perea, Granada; Camós, Mireia; Navarrete, Mayda; Tuset, Esperanza; Florensa, Lourdes; Millá, Fuensanta; Nomdedéu, Josep; de la Banda, Esmeralda; Díaz-Beyá, Marina; Pratcorona, Marta; Garrido, Ana; Navarro, Blanca; Brunet, Salut; Sierra, Jorge; Esteve, Jordi

    2014-10-01

    Acute myeloid leukemia (AML) with myelodysplasia-related changes is characterized by the presence of multilineage dysplasia (MLD), frequently related to high-risk cytogenetics and poor outcome. However, the presence of MLD does not modify the favorable prognostic impact of NPM1 mutation. The prognosis of patients with AML presenting marked dysplasia lacking high-risk cytogenetics and NPM1 mutation is uncertain. We evaluated the prognostic impact of MLD in 177 patients with intermediate-risk cytogenetics AML (IR-AML) and wild-type NPM1. Patients were categorized as MLD-WHO (WHO myelodysplasia criteria; n = 43, 24 %), MLD-NRW (significant MLD non-reaching WHO criteria; n = 16, 9 %), absent MLD (n = 80, 45 %), or non-evaluable MLD (n = 38, 22 %). No differences concerning the main characteristics were observed between patients with or without MLD. Outcome of patients with MLD-WHO and MLD-NRW was similar, and significantly worse than patients lacking MLD. The presence of MLD (66 vs. 80 %, p = 0.03; HR, 95 % CI = 2.3, 1.08-4.08) and higher leukocyte count at diagnosis was the only variable associated with lower probability of complete remission after frontline therapy. Concerning survival, age and leukocytes showed an independent prognostic value, whereas MLD showed a trend to a negative impact (p = 0.087, HR, 95 % CI = 1.426, 0.95-2.142). Moreover, after excluding patients receiving an allogeneic stem cell transplantation in first CR, MLD was associated with a shorter survival (HR, 95 % CI = 1.599, 1.026-2.492; p = 0.038). In conclusion, MLD identifies a subgroup of patients with poorer outcome among patients with IR-AML and wild-type NPM1.

  13. Expression of the Nogo-A system in cortical lesions of pediatric patients with tuberous sclerosis complex and focal cortical dysplasia type IIb.

    PubMed

    Yu, Si-Xun; Li, Song; Shu, Hai-Feng; Zhang, Chun-Qing; Liu, Shi-Yong; Yang, Hui

    2012-07-01

    The reticulon protein Nogo-A is an important regulator of neurite growth, axonal plasticity, and cell migration in the central nervous system. Previous studies have shown markedly elevated levels of Nogo-A in human temporal lobe epilepsy. In the present study, we examined the expression pattern of the Nogo-A system in cortical lesions of pediatric patients with tuberous sclerosis complex and focal cortical dysplasia type IIb. These disorders are characterized by malformations of cortical development and are frequently associated with intractable epilepsy. We found that the messenger RNA and protein levels of the Nogo-A receptor (NgR) and the downstream targets of Nogo-A, LINGO-1, TROY, and RhoA but not P75 were upregulated in the cortices of patients compared with autopsy control samples. Immunohistochemical analyses indicated that Nogo-A and NgR were strongly expressed in misshapen cells, particularly dysmorphic neurons, balloon cells, and giant cells. TROY was diffusely expressed in the malformations of cortical development. Most of theNogo-A/NgR-positive misshapen cells were colabeled with neuronal rather than astrocytic markers. Taken together, our results suggestthat the activation of Nogo-A via the NgR/LINGO-1/TROY signal transduction pathways, but not NgR/LINGO-1/P75, may be involved in the development and/or seizure activity of cortical lesions in tuberous sclerosis complex and focal cortical dysplasia type IIb.

  14. Skeletal Dysplasias: Growing Therapy for Growing Bones

    PubMed Central

    Jelin, Angie C.; O'Hare, Elizabeth; Blakemore, Karin; Jelin, Eric B.; Valle, David; Hoover-Fong, Julie

    2017-01-01

    Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal dysplasias often have small chests with respiratory insufficiency or airway obstruction and require immediate intubation after birth. Thereafter a variety of orthopedic, neurosurgical, pulmonary, otolaryngology interventions may be needed. In terms of definitive treatment for skeletal dysplasias, there are few pharmacotherapeutic options available for the majority of these conditions. We sought to describe therapies that are currently available or under investigation for skeletal dysplasias. PMID:28321190

  15. Multiple epiphyseal dysplasia

    PubMed Central

    2009-01-01

    Background Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset osteoarthritis, mainly in the hip and knee, and mild-to-moderate short stature. Here we report on a 6-generation MED family with 17 affected members. Method The clinical and radiographic data on the 12 affected members still living were scrutinized. A structured inquiry comprising state of health and MED-related symptoms since birth up to the present time and the osteoarthritis outcome (KOOS) questionnaire were sent to all living family members with MED. The 5 known gene loci for autosomal dominant MED were analyzed for linkage, using fluorescence-labeled microsatellite markers. Linkage was ascertained with markers close to the COL9A2 gene, which was analyzed for mutations by sequencing. Results We identified an exon 3 donor splice mutation in the COL9A2 gene in all affected family members. Clinical, radiographic, and questionnaire data from affected family members suggested that MED caused by COL9A2 mutations starts in early childhood with knee pain accompanied by delayed ossification of femoral epiphyses. The disease then either stabilizes during puberty or progresses with additional joints becoming affected; joint surgery might be necessary. The progression of the disease also affects muscles, with increasing atrophy, resulting in muscle fatigue and pain. Muscular atrophy has not been reported earlier in cases with COL9A2 mutations. Interpretation In a patient with clinically suspected or verified MED, it is important to perform DNA-based analysis to identify a possible disease-causing mutation. This information can be used to carry out genetic risk assessment of other family members and to achieve an early and correct diagnosis in the children. PMID:19995321

  16. [Fibrous dysplasia of bone].

    PubMed

    Orcel, Philippe; Chapurlat, Roland

    2007-10-31

    Fibrous dysplasia of bone is a congenital non hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis. Prevalence is difficult to estimate, due to frequent asymptomatic lesions. Bone lesions are mono- or polyostotic and may be associated with bone pain and fragility, leading to fractures. In some patients or bone sites, they are hypertrophic, responsible for neurological complications. Imaging and, when necessary, histology are the cornerstones of the diagnosis. A common molecular defect, i.e. activating mutations of the GNAS gene, encoding the a subunit of the Gs protein in target cells, is responsible for bone cell alterations as well as for the involvement of other cells/tissues bearing the same molecular defect (melanocytes, endocrine cells). These mutations affect only somatic cells and are therefore not hereditary: antenatal diagnosis is not appropriate for this disease and genetic counselling is not very useful, except for reassuring the patients. The conventional therapeutic approach is essentially symptomatic (pain killers) and orthopaedic (prevention and treatment of bone complications). Recent publications have focused attention on pamidronate, which rapidly relieves bone pain in most patients, and progressively increases bone mineralization in osteolytic areas in about half of the patients. Tubular phosphate wasting is common and should be treated with phosphate supplement and calcitriol. The prognosis should improve with therapeutic advances, but this remains to be properly evaluated.

  17. Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout Mice

    PubMed Central

    Majewski, Tadeusz; Mohammad, Mahmoud A.; Kalin, Tanya V.; Zabielska, Joanna; Ren, Xiaomeng; Bray, Molly; Brown, Hannah M.; Welty, Stephen; Thevananther, Sundararajah; Langston, Claire; Szafranski, Przemyslaw; Justice, Monica J.; Kalinichenko, Vladimir V.; Gambin, Anna; Belmont, John; Stankiewicz, Pawel

    2014-01-01

    Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) is a developmental disorder of the lungs, primarily affecting their vasculature. FOXF1 haploinsufficiency due to heterozygous genomic deletions and point mutations have been reported in most patients with ACDMPV. The majority of mice with heterozygous loss-of-function of Foxf1 exhibit neonatal lethality with evidence of pulmonary hemorrhage in some of them. By comparing transcriptomes of human ACDMPV lungs with control lungs using expression arrays, we found that several genes and pathways involved in lung development, angiogenesis, and in pulmonary hypertension development, were deregulated. Similar transcriptional changes were found in lungs of the postnatal day 0.5 Foxf1+/− mice when compared to their wildtype littermate controls; 14 genes, COL15A1, COL18A1, COL6A2, ESM1, FSCN1, GRINA, IGFBP3, IL1B, MALL, NOS3, RASL11B, MATN2, PRKCDBP, and SIRPA, were found common to both ACDMPV and Foxf1 heterozygous lungs. Our results advance knowledge toward understanding of the molecular mechanism of ACDMPV, lung development, and its vasculature pathology. These data may also be useful for understanding etiologies of other lung disorders, e.g. pulmonary hypertension, bronchopulmonary dysplasia, or cancer. PMID:24722050

  18. [Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia].

    PubMed

    Salas-Alanis, Julio C; Cepeda-Valdés, Rodrigo; González-Santos, Adriana; Amaya-Guerra, Mario; Kurban, Mazen; Christiano, Angela M

    2011-12-01

    Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmenta-tion, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.

  19. WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198*

    PubMed Central

    Santhanam, M.; Rajagopal, K.; Sugumar, L. K.; Balaji, V.

    2016-01-01

    Objectives To determine the pattern of mutations of the WISP3 gene in clinically identified progressive pseudorheumatoid dysplasia (PPD) in an Indian population. Patients and Methods A total of 15 patients with clinical features of PPD were enrolled in this study. Genomic DNA was isolated and polymerase chain reaction performed to amplify the WISP3 gene. Screening for mutations was done by conformation-sensitive gel electrophoresis, beginning with the fifth exon and subsequently proceeding to the remaining exons. Sanger sequencing was performed for both forward and reverse strands to confirm the mutations. Results In all, two of the 15 patients had compound heterozygous mutations: one a nonsense mutation c.156C>A (p.C52*) in exon 2, and the other a missense mutation c.677G>T (p.G226V) in exon 4. All others were homozygous, with three bearing a nonsense mutation c.156C>A (p.C52*) in exon 2, three a missense mutation c.233G>A (p.C78Y) in exon 2, five a missense mutation c.1010G>A (p.C337Y) in exon 5, one a nonsense mutation c.348C>A (p.Y116*) in exon 3, and one with a novel deletion mutation c.593_597delATAGA (p.Y198*) in exon 4. Conclusion We identified a novel mutation c.593_597delATAGA (p.Y198*) in the fourth exon of the WISP3 gene. We also confirmed c.1010G>A as one of the common mutations in an Indian population with progressive pseudorheumatoid dysplasia. Cite this article: V. Madhuri, M. Santhanam, K. Rajagopal, L. K. Sugumar, V. Balaji. WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198* Bone Joint Res 2016;5:301–306. DOI: 10.1302/2046-3758.57.2000520. PMID:27436824

  20. Radiofrequency Ablation is Associated with Decreased Neoplastic Progression in Patients with Barrett’s Esophagus and Confirmed Low-Grade Dysplasia

    PubMed Central

    Small, Aaron J.; Araujo, James L.; Leggett, Cadman L.; Mendelson, Aaron H.; Agarwalla, Anant; Abrams, Julian A.; Lightdale, Charles J.; Wang, Timothy C.; Iyer, Prasad G.; Wang, Kenneth K.; Rustgi, Anil K.; Ginsberg, Gregory G.; Forde, Kimberly A.; Gimotty, Phyllis A.; Lewis, James D.; Falk, Gary W.; Bewtra, Meenakshi

    2015-01-01

    Background & Aims Barrett’s esophagus (BE) with low-grade dysplasia (LGD) can progress to high-grade dysplasia (HGD) and esophageal adenocarcinoma (EAC). Radiofrequency ablation (RFA) has been shown to be an effective treatment for LGD in clinical trials but its effectiveness in clinical practice is unclear. We compared the rate of progression of LGD following RFA to that with endoscopic surveillance alone in routine clinical practice. Methods We performed a retrospective study of patients who either underwent RFA (n=45) or surveillance endoscopy (n=125) for LGD, confirmed by at least 1 expert pathologist, from October 1992 through December 2013 at 3 medical centers in the US. Cox regression analysis was used to assess the association between progression and RFA. Results Data were collected over median follow-up periods of 889 days (inter-quartile range, 264–1623 days) after RFA and 848 days (inter-quartile range, 322–2355 days) after surveillance endoscopy (P=.32). The annual rates of progression to HGD or EAC was 6.6% in the surveillance group and 0.77% in the RFA group. The risk of progression to HGD or EAC was significantly lower among patients who underwent RFA than those who underwent surveillance (adjusted hazard ratio, 0.06; 95% confidence interval, 0.008–0.48). Conclusions Among patients with BE and confirmed LGD, rates of progression to a combined endpoint of HGD and EAC were lower among those treated with RFA than among untreated patients. Although selection bias cannot be excluded, these findings provide additional evidence for the use of endoscopic ablation therapy for LGD. PMID:25917785

  1. Cervical dysplasia - slideshow

    MedlinePlus

    ... this page: //medlineplus.gov/ency/presentations/100080.htm Cervical dysplasia - series—Normal anatomy To use the sharing ... A.M. Editorial team. Related MedlinePlus Health Topics Cervical Cancer Cervix Disorders A.D.A.M., Inc. ...

  2. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    PubMed

    Mansouri, Maria; Kayserili, Hülya; Elalaoui, Siham Chafai; Nishimura, Gen; Iida, Aritoshi; Lyahyai, Jaber; Miyake, Noriko; Matsumoto, Naomichi; Sefiani, Abdelaziz; Ikegawa, Shiro

    2016-02-01

    Spondylo-meta-epiphyseal dysplasia (SMED), short limb-abnormal calcification type (SMED, SL-AC), is a very rare autosomal recessive disorder with various skeletal changes characterized by premature calcification leading to severe disproportionate short stature. Twenty-two patients have been reported until now, but only five mutations (four missense and one splice-site) in the conserved sequence encoding the tyrosine kinase domain of the DDR2 gene has been identified. We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing. Our study has expanded the mutational spectrum of this rare disease and it has shown that exome sequencing is a powerful and cost-effective tool for the diagnosis of clinically heterogeneous disorders such as SMED.

  3. Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome.

    PubMed

    Urgun, Kamran; Yılmaz, Baran; Toktaş, Zafer Orkun; Akakın, Akın; Konya, Deniz; Demir, Mustafa Kemal; Kılıç, Türker

    2016-01-01

    Aneurysmal bone cysts (ABCs) are defined as benign cystic lesions of bone composed of blood-filled spaces. ABCs may be a secondary pathology superimposed on fibrous dysplasia (FD). Concomitant FD and ABC in relation with McCune-Albright syndrome is an extremely rare condition. Here, we report concomitant, double ABCs in bilateral occipital regions and FD from the skull base to the C2 vertebra with Chiari type 1 malformation. A 14-year-old female with a diagnosis of McCune-Albright syndrome presented with swellings at the back of her head. The lesions were consistent with ABCs and were totally resected with reconstruction of the calvarial defects. The coexistence of FD, bilateral occipital ABCs, and Chiari malformation type 1 in a McCune-Albright patient is an extremely rare condition and, to our knowledge, has not been reported to date. Exact diagnosis and appropriate surgical treatment usually lead to a good outcome.

  4. Chondrodiatasis in a patient with spondyloepimetaphyseal dysplasia using the Ilizarov technique: successful correction of an angular deformity with ensuing ossification of a large metaphyseal lesion. A case report.

    PubMed

    Valdivia, G G; Fassier, F; Hamdy, R C

    1998-01-01

    Distraction through the physis (chondrodiatasis) is a controversial technique with unpredictable results. However, it has been used in the past for the lengthening and correction of angular deformities of long bones. We report the case of an 11-year-old patient with spondyloepimetaphyseal dysplasia (SEMD) who presented with a severe recurvatum deformity of the left proximal tibia secondary to collapse of the tibial plateau into a large metaphyseal cystic lesion. Using the chondrodiatasis technique with a percutaneously applied Ilizarov circular frame, we were able to correct this deformity. Surprisingly, healing and ossification of the metaphyseal lesion was simultaneously observed at the end of the treatment, a finding which, to the best of our knowledge, has not been previously reported.

  5. Ectodermal dysplasia and abnormal thumbs.

    PubMed

    Lucky, A W; Esterly, N B; Tunnessen, W W

    1980-05-01

    Two unrelated children, a girl and a boy, with alopecia, anomalous cutaneous pigmentation, abnormal thumbs, and endocrine disorders, including short stature and delayed bone age in one patient and juvenile onset diabetes mellitus in the other, are described. In one instance, the mother and the maternal grandmother had similar abnormalities, although of a less severe nature. Both children had normal nails and no unusual susceptibility to infections. We believe these two patients represent a previously undescribed syndrome of ectodermal dysplasia that may be inherited as an autosomal-dominant trait.

  6. Clinical and radiographic medium‐term evaluation on patients with developmental dysplasia of the hip, who were submitted to open reduction, capsuloplasty and Salter osteotomy☆☆☆

    PubMed Central

    da Rocha, Válney Luiz; Marques, Guilherme Lima; da Silva, Leonardo Jorge; di Macedo Bernardes, Tiago Augusto; de Moraes, Frederico Barra

    2014-01-01

    Objective to evaluate the clinical and radiographic medium‐term results from surgical treatment of developmental dysplasia through open reduction, Salter et al.’s osteotomy and capsuloplasty. Methods 13 patients were evaluated, 13 hips treated surgically by the proposed technique between 2004 and 2011. A clinical and radiographic evaluation was conducted by Dutoit et al. and Severin et al. criteria, respectively. Results the acetabular preoperative index for the 13 surgically treated hips ranged from 27° to 50° (average of 36), and after surgical correction to 18.5° (10–28°), so that the evaluations of preoperative and postoperative acetabular indexes showed up significant statistic reduction (p < 0.05). Regarding the postoperative clinical evaluation, it was found: nine excellent hips (69.2%), three good ones (23.1%), no fair hips (0%) and a poor one (7.7%). In radiographic evaluation, it was found: six excellent hips (46.1%), three good ones (23.1%), no fair hips (0%) and four poor ones (30.8%). Therefore, favorable results were obtained (92.3%), with grouped hips with excellent and good ratings as satisfactory and with fair and bad ratings as unsatisfactory. It is also important to notice that there was no significance among occurrence of complications, the patient's age, the time of surgery and the preoperative acetabular index (p > 0.05). As complications occurred, it was found that three subluxations and a subluxation associated with avascular necrosis of the femoral head. Conclusion open reduction, Salter et al.’s osteotomy and capsuloplasty are seen to be a viable option for the treatment of developmental dysplasia of the hip, according to clinical and radiological medium‐term evaluations. PMID:26229772

  7. ILAE focal cortical dysplasia type IIIc in the ictal onset zone in epileptic patients with solitary meningioangiomatosis.

    PubMed

    Mukae, Nobutaka; Suzuki, Satoshi O; Morioka, Takato; Murakami, Nobuya; Hashiguchi, Kimiaki; Shigeto, Hiroshi; Sakata, Ayumi; Iihara, Koji

    2014-12-01

    "Solitary" meningioangiomatosis (MA) is a rare, benign, hamartomatous lesion of the cerebral cortex and frequently leads to epilepsy. However, the source of the epileptogenicity in meningioangiomatosis remains controversial. We report two surgically-treated meningioangiomatosis cases with medically intractable epilepsy. In both cases, chronic subdural electrocorticogram (ECoG) recordings identified the ictal onset zone on apparently normal cortex, adjacent to and/or above the meningioangiomatosis lesion, not on the meningioangiomatosis lesion itself. The ictal onset zone was resected, along with the MA lesion, and good seizure outcome was achieved. Histological examination of the ictal onset zone revealed the presence of ILAE focal cortical dysplasia (FCD) type IIIc. Our case studies suggest that in the surgical management of epilepsy with meningioangiomatosis, it is important to identify undetected, but epileptogenic, ILAE FCD Type IIIc, using preoperative multimodal examinations, including chronic ECoG recordings.

  8. [Optic nerve hypoplasia and septo-optic dysplasia].

    PubMed

    Zimmermann-Paiz, Martín A; Fang-Sung, Jen Wen

    2009-12-01

    The septo-optic dysplasia or De Morsier syndrome is an unusual disorder of the embryonic development. It consists of hypoplasia in one or both optic nerves, midline cerebral malformations and hypothalamic-pituitary dysfunction, which is inconstant. The present work describes the findings of 9 patients with septo-optic dysplasia.

  9. Dysplasia can be a pain in the gut.

    PubMed

    McKenna, Barbara J; Appelman, Henry D

    2002-12-01

    In the gastrointestinal tract, the term 'dysplasia' is used to refer to non-invasive neoplastic epithelium. Although we recognise adenomas of the gut as dysplastic, we don't use the term 'dysplasia' in reporting them. The use of the term 'dysplasia' for pre-invasive epithelium gradually came to replace other terms in studies attempting to identify epithelial changes that were cancer precursors in surveillance biopsies of patients with chronic colitides. The two-tier system of classification, dividing dysplasias into low-grade or high-grade lesions is conceptually straightforward; however, difficulties exist in the distinction of regenerative epithelium from low-grade dysplasia, of low-grade from high-grade dysplasia, and in identifying superficially invasive carcinoma in a dysplastic mucosa. The category 'indefinite for dysplasia' is an honest recognition of the difficulties in distinguishing reactive or regenerative epithelium from low-grade dysplasia, since these epithelia share many cytological features. In surveillance biopsies in ulcerative colitis and Barrett's mucosa, for each epithelial category from non-dysplastic through indefinite, low-grade and high-grade dysplasia, there are specific management recommendations that vary from no change in surveillance to increased surveillance to definitive therapy that is often a major resection. The recommendation for referral of high-grade dysplasias to consultants reflects the concern pathologists have about making such clinically significant diagnoses with limited experience. Pathologists should use the accepted terminology, share cases to expand their experience, and seek consultation in selected cases. This paper follows the evolution of the dysplasia concept, details the difficult areas of diagnosis, and discusses the importance of interaction between clinicians and pathologists in dealing with dysplasias.

  10. Osteofibrous dysplasia and adamantinoma.

    PubMed

    Most, Mathew J; Sim, Franklin H; Inwards, Carrie Y

    2010-06-01

    Osteofibrous dysplasia (OFD) is a rare, benign, fibro-osseous lesion that typically is seen within the cortex of the tibia in children. Adamantinoma (AD) is a rare, low-grade malignant primary bone tumor that occurs most often in the tibia and/or fibula of adolescent persons and young adults; however, it has been reported in other long bones, as well. Immunohistochemical and ultrastructural evidence has shown that the neoplastic cell in AD derives from an epithelial lineage. More recently, published reports have described another clinical entity-differentiated or OFD-like AD-that appears to lie between OFD and AD along a spectrum of disease. Controversy exists as to whether OFD is a precursor lesion to AD or whether OFD may be a residual lesion resulting from a spontaneously regressing AD. Management of OFD varies from observation to surgical intervention, depending on the age of the patient and the extent of the lesion. Management of AD requires surgical resection with wide margins, followed by appropriate reconstruction, to minimize the risk of local recurrence or metastasis.

  11. Cleidocranial dysostosis

    MedlinePlus

    ... chap 40. Horton WA, Hecht JT. Disorders involving transcription factors. In: Kliegman RM, Stanton BF, St Geme ... about A.D.A.M.'s editorial policy , editorial process and privacy policy . A.D.A.M. is ...

  12. Cervical Dysplasia: Is It Cancer?

    MedlinePlus

    ... showed cervical dysplasia. What does that mean? Is it cancer? Answers from Shannon K. Laughlin-Tommaso, M. ... the abnormal cells. Dysplasia could go away on its own or, rarely, it could develop into cancer. ...

  13. Genetics Home Reference: thanatophoric dysplasia

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions thanatophoric dysplasia thanatophoric dysplasia Enable ...

  14. Genetics Home Reference: oculodentodigital dysplasia

    MedlinePlus

    ... particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are ... area? Other Names for This Condition oculo-dento-digital dysplasia oculo-dento-osseous dysplasia oculodentodigital syndrome oculodentoosseous ...

  15. Neuronal heterotopia with capillary penetration of neurons and cortical dysplasia in a patient with complex partial seizures. Case report.

    PubMed

    Jay, V; Becker, L E; Otsubo, H; Hwang, P; Hoffman, H J; Armstrong, D C

    1993-04-01

    Unusual pathological findings were encountered in a temporal lobectomy specimen from a 9-year-old boy with intractable complex partial seizures. Magnetic resonance imaging revealed an enlarged left temporal lobe, with diffuse high signal intensity over the cortex and poor gray-white differentiation on T2-weighted imaging; single-photon emission computerized tomography showed decreased blood flow. Active epileptiform discharges were identified in the left temporal lobe with focal slow waves and generalized epileptiform paroxysms. Pathologically, the cortex revealed changes of focal cortical dysplasia with extensive disorganization of neuronal morphology, layering, and orientation as well as focal polymicrogyria. The cortical-white matter junction was indistinct with extensive neuronal heterotopias in the white matter. Large pale balloon cells akin to those seen in tuberous sclerosis were found scattered within the cortex and white matter. The most striking finding was that of a heterotopic nodule in the white matter, which revealed abnormal neurons with penetration of cell bodies by capillaries. Ultrastructurally, there were no degenerative changes in these neurons, and this unusual phenomenon is attributed to a developmental disturbance affecting neuronal, glial, and vascular elements.

  16. [Microlaryngoscopy treatment of laryngeal dysplasia with CO2 laser].

    PubMed

    Motta, G; Esposito, E; Motta, S; Testa, D

    2001-02-01

    Classification of laryngeal dysplasia, the most appropriate treatments and criteria for evaluation of the results is still a highly controversial issue. The objectives of the present study on the treatment of laryngeal dysplasia lesions are to: 1) evaluate the relative incidence of the various forms of dysplasia in relation to grading of the histopathological findings; 2) establish the prognosis for the various forms of dysplasia considered; 3) determine the results achieved by the author's treatment protocol according to the characteristics of the dysplasia; 4) critically evaluate the classifications of laryngeal dysplasia found in the literature in view of the results of the present study. The study involved 141 patients with vocal cord dysplasia (134 men, 7 women; mean age: 56.2 years) who had come under observation at the E.N.T. Dept. of the University of Naples "Federico II" between January 1981 and April 1998. In all cases the dysplasia was removed by CO2 laser microlaryngoscopy. Of the 141 patients 89 (63.2%) showed mild dysplasia, 14 (9.9%) moderate dysplasia, 20 (14.2%) severe dysplasia and 18 (12.7%) in situ carcinoma. The five-year survival rate showed an overall actuarial survival of 89.1% for all patients while the corrected actuarial survival was 98.5% and local disease control was 86.1%. In 17 cases (12%) the dysplasia lesion recurred, in 11 (7.8%) an infiltrating carcinoma arose. Recurrences in the dysplasia were encountered in 9% of the patients with mild lesions, 7.1% of those with moderate dysplasia, 15% of the subjects with the severe form and in 27.7% of those with in situ carcinoma. An infiltrating carcinoma arose in 5.6% of the cases of mild lesion, in 7.1% of the medium dysplasias, 5% of the severe forms and in 22.2% of those with in situ carcinoma. The recurrences and infiltrating carcinomas were successfully treated with endoscopic CO2 laser surgery. Only three cases (2.1%) required radical surgery (total laryngectomy): these were patients

  17. Developmental Dysplasia of the Hip

    MedlinePlus

    ... to 2-Year-Old Developmental Dysplasia of the Hip KidsHealth > For Parents > Developmental Dysplasia of the Hip A A A What's in this article? What ... Symptoms Diagnosis Treatment Outlook Developmental dysplasia of the hip (DDH) is a problem with the way a ...

  18. Renal infarction complicating fibromuscular dysplasia.

    PubMed

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

    2014-01-01

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

  19. Differentially expressed proteins underlying childhood cortical dysplasia with epilepsy identified by iTRAQ proteomic profiling

    PubMed Central

    Liu, Shiyong; Liu, Yi; Yang, Yixuan; Yang, Hui; Chen, Yangmei; Chen, Lifen

    2017-01-01

    Cortical dysplasia accounts for at least 14% of epilepsy cases, and is mostly seen in children. However, the understanding of molecular mechanisms and pathogenesis underlying cortical dysplasia is limited. The aim of this cross-sectional study is to identify potential key molecules in the mechanisms of cortical dysplasia by screening the proteins expressed in brain tissues of childhood cortical dysplasia patients with epilepsy using isobaric tags for relative and absolute quantitation-based tandem mass spectrometry compared to controls, and several differentially expressed proteins that are not reported to be associated with cortical dysplasia previously were selected for validation using real-time polymerase chain reaction, immunoblotting and immunohistochemistry. 153 out of 3340 proteins were identified differentially expressed between childhood cortical dysplasia patients and controls. And FSCN1, CRMP1, NDRG1, DPYSL5, MAP4, and FABP3 were selected for validation and identified to be increased in childhood cortical dysplasia patients, while PRDX6 and PSAP were identified decreased. This is the first report on differentially expressed proteins in childhood cortical dysplasia. We identified differential expression of FSCN1, CRMP1, NDRG1, DPYSL5, MAP4, FABP3, PRDX6 and PSAP in childhood cortical dysplasia patients, these proteins are involved in various processes and have various function. These results may provide new directions or targets for the research of childhood cortical dysplasia, and may be helpful in revealing molecular mechanisms and pathogenesis and/or pathophysiology of childhood cortical dysplasia if further investigated. PMID:28222113

  20. Prophylactic intramedullary nailing in monostotic fibrous dysplasia.

    PubMed

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

    2008-06-01

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

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

    PubMed

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

    1992-05-01

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

  2. Technical and Clinical Results After Percutaneous Angioplasty in Nonmedial Fibromuscular Dysplasia: Outcome After Endovascular Management of Unifocal Renal Artery Stenoses in 30 Patients

    SciTech Connect

    Barrier, Pierre Julien, Auriol; Guillaume, Canevet; Philippe, Otal; Herve, Rousseau; Francis, Joffre

    2010-04-15

    Although percutaneous transluminal renal angioplasty (PTRA) is associated with excellent results in medial fibromuscular dysplasia (FMD), the clinical and technical outcome in the less common nonmedial subtype of FMD is not clearly known. Angiographic PTRA results and clinical follow-up were documented, to report technical and clinical results in 30 patients with unifocal, nonmedial dysplastic stenoses. Balloon angioplasty was technically successful in only 65% of the lesions. Additional stenting, performed after PTRA failure in six patients, increased the initial technical success rate to 82%. Stenting was used in another lesion after restenosis, and long-term patency was achieved in only three of the seven stented lesions. Frequent restenoses and unusual complications were observed during follow-up. Stent fracture occurred in two cases. Overall, long-term clinical and technical successes were sustained in 70 and 76%, respectively. We conclude that nonmedial, unifocal renal artery dysplastic stenoses do not share the excellent prognosis of the medial type and that stenting should be avoided. Therefore, surgery should be considered in lesions remaining unresponsive to balloon dilatation, after a second PTRA attempt.

  3. Cloning of the anhidrotic ectodermal dysplasia gene: Identification of cDNAs associated with CpG islands mapped near translocation breakpoint in two female patients

    SciTech Connect

    Srivastava, A.K.; Schlessinger, D.; Kere, J.

    1994-09-01

    The gene for the X chromosomal developmental disorder anhidrotic ectodermal dysplasia (EDA) has been mapped to Xq12-q13 by linkage analysis and is expressed in a few females with chromosomal translocations involving band Xq12-q13. A yeast artificial chromosome (YAC) contig (2.0 Mb) spanning two translocation breakpoints has been assembled by sequence-tagged site (STS)-based chromosomal walking. The two translocation breakpoints (X:autosome translocations from the affected female patients) have been mapped less than 60 kb apart within a YAC contig. Unique probes and intragenic STSs (mapped between the two translocations) have been developed and a somatic cell hybrid carrying the translocated X chromosome from the AK patient has been analyzed by isolating unique probes that span the breakpoint. Several STSs made from intragenic sequences have been found to be conserved in mouse, hamster and monkey, but we have detected no mRNAs in a number of tissues tested. However, a probe and STS developed from the DNA spanning the AK breakpoint is conserved in mouse, hamster and monkey, and we have detected expressed sequences in skin cells and cDNA libraries. In addition, unique sequences have been obtained from two CpG islands in the region that maps proximal to the breakpoints. cDNAs containing these sequences are being studied as candidates for the gene affected in the etiology of EDA.

  4. Detection of a mutation in the intron of Sperm-specific glyceraldehyde-3-phosphate dehydrogenase gene in patients with fibrous sheath dysplasia of the sperm flagellum.

    PubMed

    Elkina, Y L; Kuravsky, M L; Bragina, E E; Kurilo, L F; Khayat, S S; Sukhomlinova, M Y; Schmalhausen, E V

    2017-03-01

    The fibrous sheath is a unique cytoskeletal structure surrounding the axoneme and outer dense fibres of the sperm flagellum. Dysplasia of the fibrous sheath (DFS) is a defect of spermatozoa observed in severe asthenozoospermic patients and characterised by morphologically abnormal flagella with distorted fibrous sheaths. Sperm-specific glyceraldehyde-3-phosphate dehydrogenase (GAPDS) is a glycolytic enzyme that is tightly associated with the fibrous sheath of the sperm flagellum. The enzymatic activity of GAPDS was investigated in sperm samples of seven patients with DFS and compared to that of normal spermatozoa (n = 10). The difference in GAPDS activity in DFS and normal spermatozoa was statistically significant (0.19 ± 0.11 and 0.75 ± 0.11 μmol NADH per min per mg protein respectively). Immunochemical staining revealed irregular distribution of GAPDS in the flagellum of DFS spermatozoa. Other five samples with typical alterations in the fibrous sheath were assayed for mutations within human GAPDS gene. In all five cases, a replacement of guanine by adenine was revealed in the intron region between the sixth and the seventh exons of GAPDS. It is assumed that the deficiency in GAPDS observed in most DFS sperm samples is ascribable to a disorder in the regulation of GAPDS expression caused by the mutation in the intron region of GAPDS gene.

  5. Progressive Pseudorheumatoid Dysplasia or JIA?

    PubMed Central

    2017-01-01

    Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare arthropathy of childhood involving the axial skeleton as well as small peripheral joints. A 10-year-old boy was referred by a general practitioner with pain and deformity in the fingers of hands and limping gait. There was no joint synovitis although the finger joints were bulky on examination with mild flexion deformity. Patient had exaggerated kyphosis and lumbar lordosis with pigeon chest and restricted hip joint movements. Anteroposterior X-rays of the hip joints revealed widened and flattened epiphyses of the femoral heads with narrow and irregular joint spaces. Hand X-rays revealed periarticular osteopenia, significant narrowing of the joint spaces of proximal interphalangeal, and distal interphalangeal joints, together with osseous enlargement of the basis of metacarpal bones and phalanges. Spinal X-rays revealed generalized platyspondyly and anterior beaking of vertebral bodies. There was a clear mega os trigonum in his feet images. All blood investigations were normal with no evidence of inflammation and thyroid hormone levels were normal. The diagnosis of PPD was favored by imaging studies and normal inflammatory markers and the patient was treated with physiotherapy, family counseling, and anti-inflammatory medications. PMID:28316857

  6. Glenoid Dysplasia: Pathophysiology, Diagnosis, and Management.

    PubMed

    Eichinger, Josef K; Galvin, Joseph W; Grassbaugh, Jason A; Parada, Stephen A; Li, Xinning

    2016-06-01

    ➤Subtle forms of glenoid dysplasia may be more common than previously thought and likely predispose some patients to symptomatic posterior shoulder instability. Severe glenoid dysplasia is a rare condition with characteristic radiographic findings involving the posteroinferior aspect of the glenoid that often remains asymptomatic.➤Instability symptoms related to glenoid dysplasia may develop over time with increased activities or trauma. Physical therapy focusing on rotator cuff strengthening and proprioceptive control should be the initial management.➤Magnetic resonance imaging and computed tomographic arthrograms are useful for detecting subtle glenoid dysplasia by revealing the presence of an abnormally thickened or hypertrophic posterior part of the labrum, increased capsular volume, glenoid retroversion, and posteroinferior glenoid deficiency.➤Open and arthroscopic labral repair and capsulorrhaphy procedures have been described for symptomatic posterior shoulder instability. Glenoid retroversion of >10° may be a risk factor for failure following soft-tissue-only procedures for symptomatic glenoid dysplasia.➤Osseous procedures are categorized as either glenoid reorientation (osteotomy) or glenoid augmentation (bone graft), and no predictable results have been demonstrated for any surgical strategy. Glenoid osteotomies have been described for increased retroversion, with successful results, although others have noted substantial complications and poor outcomes.➤In severe glenoid dysplasia, the combination of bone deficiency and retroversion makes glenoid osteotomy extremely challenging. Bone grafts placed in a lateralized position to create a blocking effect may increase the risk of the development of arthritis, while newer techniques that place the graft in a congruent position may decrease this risk.

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

    PubMed

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

    2000-01-01

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

  8. Recurrent Monostotic Fibrous Dysplasia in the Mandible

    PubMed Central

    de Oliveira, Reinaldo José; Takehana, Denise; Deana, Naira Figueiredo

    2016-01-01

    Fibrous dysplasia (FD) is a condition in which normal bone marrow is replaced by an abnormal proliferation of new fibrous connective tissue. Female patient, white, 20 years old, attended the dental clinic reporting a slow increase in volume in the right mandible region over the last 5 years. She was examined by imaging: the panoramic X-ray revealed a lesion with the appearance of ground glass while the cone-beam computed tomography showed an extensive lesion in the region of the right hemimandible. The histopathological examination was compatible with fibrous dysplasia. Bone gammagraphy was indicated, plus an endocrinological study to eliminate polyostotic forms, which produced a negative result. Monostotic fibrous dysplasia in the right hemimandible was diagnosed. Conservative surgery was carried out and after 1 year recurrence of the tumour was observed. We may conclude that conservative surgery might not be the best choice for treatment for monostotic fibrous dysplasia in the mandible and that other options must be considered, such as radical surgery or the use of bisphosphonates. In our study, we may also conclude that it is very important to explain to the patient the possibility of recurrence of the lesion and the need for monitoring with periodic imaging studies. PMID:27340572

  9. The Association of High Risk Human Papillomaviruses in Patients With Cervical Cancer: An Evidence Based Study on Patients With Squamous Cell Dysplasia or Carcinoma for Evaluation of 23 Human Papilloma Virus Genotypes

    PubMed Central

    Piroozmand, Ahmad; Mostafavi Zadeh, Seyed Mostafa; Madani, Azita; Soleimani, Reza; Nedaeinia, Reza; Niakan, Mohammad; Avan, Amir; Manian, Mostafa; Moradi, Mohammad; Eftekhar, Zahra

    2016-01-01

    Background Cervical cancer is one of the leading causes of cancer-related death in females. Human papilloma virus (HPV) is the major risk factor of cervical cancer. Objectives The aim of the current study was to explore the frequency and role of 23 different HPVs in patients with cervical cancer. Materials and Methods Overall, 117 formalin-fix and paraffin-embedded (FFPE) tissues from cervical cancer patients with squamous cell carcinoma (SCC) or dysplasia were collected from Mirza-Kochakkhan-Jangali hospital, Tehran, Iran during year 2013, to investigate the presence of HPV- HPV- 67, 68, 6, 11, 13, 16, 17, 30, 69, 39, 40, 42, 64, 66 and 51 to 59 genotypes. Results The Pap smear report illustrated the presence of malignancy in 71 cases, while 11 cases had no evidence of malignancy. Among the patients, 26 cases had sexually transmitted disease with relative frequency of 0.58. Infection with papilloma virus was observed in 83.6% of SCC patients and 45% of the dysplasia group. The most prevalent HPV genotypes were 18 with 31.62% and 16 with 27.35% of cases. Moreover the relative frequencies of HPV-33, -6, -58, -52, -35 and -51, genotypes were 15.38, 7.69, 5.98, 5.12 and 3.41%, respectively. Among the different genotypes of HPV, 31 had the lowest and 16 had the highest relative frequency. Conclusions Our findings demonstrate that HPV-16 and -18 have a higher prevalence in our population than 31 and 51. Further investigations are required to evaluate the role of these genotypes in a larger multicenter setting for establishing their values for early detection of patients, which is useful for screening and vaccination programs of cancerous and precancerous lesions of cervical cancer. PMID:27279992

  10. Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership.

    PubMed

    Boyce, A M; Turner, A; Watts, L; Forestier-Zhang, L; Underhill, A; Pinedo-Villanueva, R; Monsell, F; Tessaris, D; Burren, C; Masi, L; Hamdy, N; Brandi, M L; Chapurlat, R; Collins, M T; Javaid, Muhammad Kassim

    2017-12-01

    To develop consensus on improving the management of patients, we convened an international workshop involving patients, clinicians, and researchers. Key findings included the diagnostic delay and variability in subsequent management with agreement to develop an international natural history study. We now invite other stakeholders to join the partnership.

  11. Imaging of craniofacial fibrous dysplasia.

    PubMed

    Lisle, D A; Monsour, P A J; Maskiell, C D

    2008-08-01

    Fibrous dysplasia is a relatively common disorder of bone. It may affect the bones of the face and skull and, in so doing, produce a wide variety of clinical presentations. Plain film assessment of craniofacial fibrous dysplasia may be difficult because of varying appearances and complex, overlapping structures. The MRI appearances of fibrous dysplasia are often non-specific and may be confusing. Findings on CT are also variable, but more commonly lead to a specific diagnosis. This is because of the characteristic ground-glass appearance of woven bone, seen on CT in most if not all cases of craniofacial fibrous dysplasia.

  12. Bone-Grafting in Polyostotic Fibrous Dysplasia

    PubMed Central

    Leet, Arabella I.; Boyce, Alison M.; Ibrahim, Khalda A.; Wientroub, Shlomo; Kushner, Harvey; Collins, Michael T.

    2016-01-01

    Background: Polyostotic fibrous dysplasia is a skeletal disease that results from somatic activating mutations in the gene GNAS in skeletal stem cells, leading to proliferation of immature osteogenic cells with replacement of normal marrow and bone with fibro-osseous tissue. Lesions may cause bone deformity or fracture. In the surgical care of polyostotic fibrous dysplasia, the role of grafting and the optimal grafting material are not clear. The purpose of this study was to evaluate the long-term survival of bone-grafting procedures in subjects with polyostotic fibrous dysplasia over time. Methods: The operative reports and radiographs of a cohort of subjects with polyostotic fibrous dysplasia followed in a natural history study were reviewed. Twenty-three subjects (mean age at the time of enrollment, thirteen years [range, two to forty years]) with fifty-two bone-grafting procedures had a mean follow-up time of 19.6 years (range, twenty-nine months to forty-seven years). Kaplan-Meier life table estimates, Cox proportional hazard models, and t tests comparing means were performed to assess various aspects of graft survival. Results: Kaplan-Meier curves showed a 50% estimate of survival of 14.5 years. Cox proportional hazards models showed no advantage comparing allograft with autograft or structural with nonstructural graft materials. The mean age of the patients was significantly greater (p < 0.001) in the subgroup of subjects in whom grafts were maintained over time (20.9 years) compared with the subgroup of patients whose grafts were resorbed over time (9.8 years). Conclusions: Bone-grafting, including both allograft and autograft, is of limited value in ablating the lesions of fibrous dysplasia. The expectations of patients and surgeons should include the high probability of graft resorption over time with return of bone characteristics of fibrous dysplasia, particularly in younger patients. This suggests the maintenance of normal bone mechanics with implant

  13. Dedifferentiated adamantinoma associated with fibrous dysplasia.

    PubMed

    Nouri, H; Jaafoura, H; Bouaziz, M; Ouertatani, M; Abid, L; Meherzi, M H; Ladeb, M F; Mestiri, M

    2011-11-01

    A 21-year-old patient presented with an aggressive lesion of the left tibia associated to lymph nodes and lung metastasis. Histological examination revealed a high grade spindle cell sarcoma involving some areas of cytokeratine positive cells. Ultrastructural examination showed the presence of epithelial features in the sarcomatoid cells. The diagnosis of dedifferentiated spindle-celled adamantinoma was established. A second lesion of the right tibia was diagnosed as fibrous dysplasia. The patient had a leg amputation. He died 2 years later with multiple lung and bone metastases. The diagnosis of dedifferentiated adamantinoma should be considered when a clinician is confronted with a tibial biopsy of a "keratin-positive sarcoma". The association with fibrous dysplasia in this case is discussed.

  14. Hypohidrotic ectodermal dysplasia: a felicitous approach to esthetic and prosthetic management.

    PubMed

    Singh, Tapan; Singh, Ronauk; Singh, Gurendra Pal; Singh, Jitender Pal

    2013-05-01

    Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structure and other accessory appendages. The oral manifestations are anodontia and poor bony foundation which impairs both esthetic as well as the masticatory function. The prosthodontic management of patients with such dysplastic condition necessitates a multidisciplinary approach. This case report describes the prosthodontic oral rehabilitation of a 16 years old female pediatric patient with ectodermal dysplasia. How to cite this article: Singh T, Singh R, Singh GP, Singh JP. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management. Int J Clin Pediatr Dent 2013;6(2):140-145.

  15. Fibromuscular Dysplasia and Intravenous Thrombolytic Treatment

    PubMed Central

    PEKÖZ, Mehmet Taylan; BIÇAKCI, Şebnem; ÖZTÜRK, İlker; ASLAN, Kezban; BOZDEMİR, Hacer; KOÇ, Filiz

    2014-01-01

    Fibromuscular dysplasia (FMD), which usually affects middle-aged and older women, is a non-atheromatous and non-inflammatory angiopathy. Definitive diagnosis is made only by angiography showing classic string-of-beads appearance. In this article, we present a patient with acute ischemic stroke due to FMD who was successfully treated with thrombolytic therapy as well as to revise the approach to FMD in the light of the literature.

  16. Monostotic fibrous dysplasia with Raynaud's phenomenon

    PubMed Central

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

    2015-01-01

    Fibrous dysplasia (FD) is a benign bone disorder characterized by alteration in bone morphology. Monostotic FD is the commonest variant and affects the craniofacial bones. Raynaud's phenomenon is recurrent vasospasm of the fingers and toes due to cold exposure. The disease is usually idiopathic or secondary to connective tissue disorders. Raynaud's phenomenon is not described previously with FD. We recently encountered two interesting patients of craniofacial monostotic FD with Raynaud's phenomenon and report the same in this report. PMID:26283854

  17. Monostotic fibrous dysplasia with Raynaud's phenomenon.

    PubMed

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

    2015-01-01

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

  18. A patient-specific model of the biomechanics of hip reduction for neonatal Developmental Dysplasia of the Hip: Investigation of strategies for low to severe grades of Developmental Dysplasia of the Hip.

    PubMed

    Huayamave, Victor; Rose, Christopher; Serra, Sheila; Jones, Brendan; Divo, Eduardo; Moslehy, Faissal; Kassab, Alain J; Price, Charles T

    2015-07-16

    A physics-based computational model of neonatal Developmental Dysplasia of the Hip (DDH) following treatment with the Pavlik Harness (PV) was developed to obtain muscle force contribution in order to elucidate biomechanical factors influencing the reduction of dislocated hips. Clinical observation suggests that reduction occurs in deep sleep involving passive muscle action. Consequently, a set of five (5) adductor muscles were identified as mediators of reduction using the PV. A Fung/Hill-type model was used to characterize muscle response. Four grades (1-4) of dislocation were considered, with one (1) being a low subluxation and four (4) a severe dislocation. A three-dimensional model of the pelvis-femur lower limb of a representative 10 week-old female was generated based on CT-scans with the aid of anthropomorphic scaling of anatomical landmarks. The model was calibrated to achieve equilibrium at 90° flexion and 80° abduction. The hip was computationally dislocated according to the grade under investigation, the femur was restrained to move in an envelope consistent with PV restraints, and the dynamic response under passive muscle action and the effect of gravity was resolved. Model results with an anteversion angle of 50° show successful reduction Grades 1-3, while Grade 4 failed to reduce with the PV. These results are consistent with a previous study based on a simplified anatomically-consistent synthetic model and clinical reports of very low success of the PV for Grade 4. However our model indicated that it is possible to achieve reduction of Grade 4 dislocation by hyperflexion and the resultant external rotation.

  19. A Barrett's esophagus registry of over 1000 patients from a specialist center highlights greater risk of progression than population-based registries and high risk of low grade dysplasia.

    PubMed

    Picardo, S L; O'Brien, M P; Feighery, R; O'Toole, D; Ravi, N; O'Farrell, N J; O'Sullivan, J N; Reynolds, J V

    2015-01-01

    Barrett's esophagus (BE) arising from chronic gastro-oesophageal reflux (GERD) is the main pathologic precursor of esophageal adenocarcinoma (EAC). The risk of progression to high-grade dysplasia (HGD) and EAC is unclear, and recent population studies from Denmark and Northern Ireland suggest that this has been overestimated in the past. No data exist from the Republic of Ireland. A detailed clinical, endoscopic, and pathologic database was established in one center as a proposed pilot for a national registry, and initial and follow-up data were abstracted by a data manager. One thousand ninety-three patients were registered, 60 patients with HGD were excluded, leaving 1033, with a median age of 59 and 2 : 1 male to female ratio, and 3599 person-years of follow-up. The overall incidence of HGD/EAC was 1.33% per year overall, 0.85% if the first year is excluded. Within the first year after index endoscopy, 18 cases of HGD or EAC were identified, and 30 following the first year. Low-grade dysplasia (LGD) on index endoscopy was associated with an incidence of progression of 6.5% per year, and 3.1% when tertiary referrals were excluded. These data provide important demographic and clinical information on the population of Irish patients with BE, with incidence rates of progression higher than recently published population-based registry series, perhaps relating to sampling and pathological assessment. Low-grade dysplasia on initial biopsy is a significant proxy marker of risk of progression.

  20. Myometrial dysplasia (atypical myometrial hyperplasia).

    PubMed

    Cramer, Stewart F; Newcomb, Patricia M; Bonfiglio, Thomas A

    2007-04-01

    Although precursor lesions are well known for cervical and endometrial neoplasms, precursor lesions are not currently recognized for the most common tumor of the uterus-leiomyomas. Myometrial hyperplasia has been recently described and evaluated by morphometry, but its relationship to uterine leiomyomas has not been systematically explored. Myometrial dysplasia (atypical myometrial hyperplasia) has not been previously recognized. We herein report a case of myometrial dysplasia with immunostains for proliferation marker MIB-1 (Ki-67) and for p53. The paradoxical rarity of myometrial dysplasia is considered in comparison to the striking frequency of uterine leiomyomas.

  1. Total hip replacement in young adults with hip dysplasia

    PubMed Central

    2011-01-01

    Background and purpose Dysplasia of the hip increases the risk of secondary degenerative change and subsequent total hip replacement. Here we report on age at diagnosis of dysplasia, previous treatment, and quality of life for patients born after 1967 and registered with a total hip replacement due to dysplasia in the Norwegian Arthroplasty Register. We also used the medical records to validate the diagnosis reported by the orthopedic surgeon to the register. Methods Subjects born after January 1, 1967 and registered with a primary total hip replacement in the Norwegian Arthroplasty Register during the period 1987–2007 (n = 713) were included in the study. Data on hip symptoms and quality of life (EQ-5D) were collected through questionnaires. Elaborating information was retrieved from the medical records. Results 540 of 713 patients (76%) (corresponding to 634 hips) returned the questionnaires and consented for additional information to be retrieved from their medical records. Hip dysplasia accounted for 163 of 634 hip replacements (26%), 134 of which were in females (82%). Median age at time of diagnosis was 7.8 (0–39) years: 4.4 years for females and 22 years for males. After reviewing accessible medical records, the diagnosis of hip dysplasia was confirmed in 132 of 150 hips (88%). Interpretation One quarter of hip replacements performed in patients aged 40 or younger were due to an underlying hip dysplasia, which, in most cases, was diagnosed during late childhood. The dysplasia diagnosis reported to the register was correct for 88% of the hips. PMID:21434808

  2. Genetics Home Reference: craniometaphyseal dysplasia

    MedlinePlus

    ... Craniofacial Association International Skeletal Dysplasia Registry, UCLA National Organization for ... WN, Azari F, Sørensen ES, Kaartinen MT, McKee MD. Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and ...

  3. Genetics Home Reference: osteoglophonic dysplasia

    MedlinePlus

    ... images. Premature fusion of certain bones in the skull (craniosynostosis) typically occurs in osteoglophonic dysplasia . The craniosynostosis ... in the medical literature as a tower-shaped skull , or a relatively mild version of a deformity ...

  4. Genetics Home Reference: diastrophic dysplasia

    MedlinePlus

    ... All Description Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature ... that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is ...

  5. Guide to Understanding Fibrous Dysplasia

    MedlinePlus

    ... is usually involved. It can also result in cranial nerve problems. If the temporal bone is affected, the ... paralysis or dizziness. However, any of our 12 cranial nerves can be involved with fibrous dysplasia. The more ...

  6. Guide to Understanding Frontonasal Dysplasia

    MedlinePlus

    ... although most people with FND are of normal intelligence. Heart Rare cases of frontonasal dysplasia may be ... prognosis m any people with FND have normal intelligence and can expect a normal lifespan. how can ...

  7. Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

    SciTech Connect

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

    2009-03-15

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

  8. [Pediatric cerebrovascular accident secondary to fibromuscular dysplasia].

    PubMed

    Escalona, A Olloqui; Pradel, Z Galve; Pisón, J López; Oguiza, A García; Montañés, N Clavero; Delgado, R Pérez; Hidalgo, M Lafuente; Guelbenzu, S; Segura, J L Peña

    2009-10-01

    We present the case of a 13 year-old patient diagnosed with fibromuscular dysplasia (FMD) by angiographic study, with "string of beads" image of internal carotid, after undergoing two ischemic strokes in nine days. Conservative treatment with acetylsalicylic acid at antiaggregant doses was decided. Twenty months later the clinical progress is favorable without presenting any new episodes. FMD is a very uncommon cause of stroke in childhood. Little is known about its etiology. In spite of it usually being an asymptomatic disease, it must be considered in cases of repeated or inexplicable strokes. Its prognosis and treatment is controversial, due to the limited number of pediatric patients with this pathology.

  9. Ectrodactyly-ectodermal dysplasia-clefting syndrome causing blindness in a child.

    PubMed

    Rosenberg, Jamie B; Butrus, Salim; Bazemore, Marlet G

    2011-02-01

    Ectrodactyly-ectodermal dysplasia-clefting syndrome, the result of a mutation in the gene encoding tumor protein p63, causes ocular surface disease. It is typically progressive, with vision loss in adulthood. We present a case of severe corneal disease, glaucoma, and blindness related to ectrodactyly-ectodermal dysplasia-clefting syndrome in a 3-year-old female patient.

  10. Double-level osteotomy and one-stage reconstruction with long intramedullary femoral nail to correct a severe proximal and diaphyseal femur deformity in a patient with polyostotic fibrous dysplasia: case report and literatures review

    PubMed Central

    Chen, Feiyan; Wei, Yibing; Xia, Jun; Wu, Jianguo; Wang, Siqun; Huang, Gangyong; Chen, Jie; Shi, Jingsheng

    2015-01-01

    Proximal femur is often involved with varus and retroversion deformity in polyostotic fibrous dysplasia (PFD). Multiple corrective osteotomies with intramedullary nails in two stages is recommended procedure as some authors described. We report a case using double-level osteotomy and one-stage reconstruction with intramedullary nail in a patient with painful proximal femur and diaphysis varus deformity, the neck-shaft angle was corrected from 95° pre-operatively to 125° post-operatively, the patient was free of pain and no evidence of recurrence at the 24-month follow up. The operative design and method were described, and a review of related literatures about the treatment alteration for PFD and relevant operative selection were also performed. PMID:26550394

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

    PubMed

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

    2013-12-01

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

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

    PubMed

    Kamath, Atul F

    2016-05-18

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

  13. Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD

    PubMed Central

    Turgut, Mehmet; Demirhan, Osman; Tunc, Erdal; Bucak, Ibrahim Hakan; Canoz, Perihan Yasemen; Temiz, Fatih; Tumgor, Gokhan

    2012-01-01

    Summary Background: Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It has distinct features, the most important of which is short tubular bones and short ribs with platyspondyly, allowing a precise radiologic and prenatal ultrasonographic diagnosis. It has been reported to be caused by mutations in the FGFR3 gene, but exactly how cytogenetic abnormalities might lead to TD is unclear. Case Report: We report a case of TD with different prenatal sonographic features compatible with the classification of type I. In the result of cytogenetic examination, we found de novo CAs in 28% of cells analyzed from the affected infant; 75% of the abnormalities were numerical, and of those, 25% were structural aberrations; 21% of cells revealed predominantly numerical aberrations. Monosomy 18, 21 and 22 was observed in 4% of cells, monosomy 20 in 2%, and monosomy 7, 8, 14, 17 and 19 in 1%. Structural changes were observed in 7% of cells. Conclusions: It appears that these chromosomes may be preferentially involved in and important for TD development. PMID:23569503

  14. Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literature.

    PubMed

    Johnson, Steven E; Tatum, Sherard A; Thomson, Laura L

    2002-12-02

    Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare condition first identified in 1970. The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The most common clinical feature is ectodermal dysplasia. Ectrodactyly, cleft lip with or with out cleft palate and urogenital anomalies are also main clinical features of EEC syndrome. Pierre Robin (PR) sequence has the clinical findings of micro-retrognathia, retroposed tongue (glossoptosis), cleft of the secondary palate, and upper airway obstruction. Etiologically PR sequence is heterogeneous. It has been reported that less than 20% of cases are isolated, non-syndromic PR sequence. We present a case of a newborn male who was referred to our craniofacial clinic with EEC syndrome and PR sequence. This case represents a unique clinical association. We found no other reports in the literature of these two clinical entities occurring together. Upper airway obstruction of PR sequence, secondary to glossoptosis and micro-retrognathia, gives this association clinical relevance. In addition, this clinical association may represent a new gene locus associated with EEC syndrome.

  15. Frontonasal dysplasia (Median cleft face syndrome)

    PubMed Central

    Sharma, Seema; Sharma, Vipin; Bothra, Meenakshi

    2012-01-01

    This is a report of a rare case of frontonasal dysplasia (FND) in a full-term girl with birth weight of 2.750 kg. The baby had the classical features of FND. There were no other associated anomalies. There was no history of consanguinity and no family history of similar conditions. So inheritance of this case could be considered sporadic. Maxillofacial surgery should be considered for all patients for whom improvement is possible. However, in developing countries where there are considerable limitations in provision of social services, with economic and educational constraints, correction of such major defects remains a challenging task. PMID:22346197

  16. [Bronchopulmonary dysplasia: definitions and classifications].

    PubMed

    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.

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

    PubMed

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

    1971-06-01

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

  18. Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia

    PubMed Central

    Rossin, Sara; Divisic, Antuan; De Gregorio, Alesandra; Agosto, Caterina; Catalano, Igor; Mazza, Alessandro; Sartori, Leonardo; Benini, Franca

    2016-01-01

    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. PMID:27747122

  19. Focal Cortical Dysplasia (FCD) lesion analysis with complex diffusion approach.

    PubMed

    Rajan, Jeny; Kannan, K; Kesavadas, C; Thomas, Bejoy

    2009-10-01

    Identification of Focal Cortical Dysplasia (FCD) can be difficult due to the subtle MRI changes. Though sequences like FLAIR (fluid attenuated inversion recovery) can detect a large majority of these lesions, there are smaller lesions without signal changes that can easily go unnoticed by the naked eye. The aim of this study is to improve the visibility of focal cortical dysplasia lesions in the T1 weighted brain MRI images. In the proposed method, we used a complex diffusion based approach for calculating the FCD affected areas. Based on the diffused image and thickness map, a complex map is created. From this complex map; FCD areas can be easily identified. MRI brains of 48 subjects selected by neuroradiologists were given to computer scientists who developed the complex map for identifying the cortical dysplasia. The scientists were blinded to the MRI interpretation result of the neuroradiologist. The FCD could be identified in all the patients in whom surgery was done, however three patients had false positive lesions. More lesions were identified in patients in whom surgery was not performed and lesions were seen in few of the controls. These were considered as false positive. This computer aided detection technique using complex diffusion approach can help detect focal cortical dysplasia in patients with epilepsy.

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

    PubMed Central

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

    2017-01-01

    AIM To determine which clinical factors might be associated with gastric intestinal metaplasia (IM) in a North American population. METHODS Pathology and endoscopy databases at an academic medical center were reviewed to identify patients with and without gastric IM on biopsies for a retrospective cohort study. Patient demographics, insurance status, and other clinical factors were reviewed. RESULTS Four hundred and sixty-eight patients with gastric IM (mean age: 61.0 years ± 14.4 years, 55.5% female) and 171 without gastric IM (mean age: 48.8 years ± 20.8 years, 55.0% female) were compared. The endoscopic appearance of atrophic gastritis correlated with finding gastric IM on histopathology (OR = 2.05, P = 0.051). Gastric IM was associated with histologic findings of chronic gastritis (OR = 2.56, P < 0.001), gastric ulcer (OR = 6.97, P = 0.015), gastric dysplasia (OR = 6.11, P = 0.038), and gastric cancer (OR = 6.53, P = 0.027). Histologic findings of Barrett’s esophagus (OR = 0.28, P = 0.003) and esophageal dysplasia (OR = 0.11, P = 0.014) were inversely associated with gastric IM. Tobacco use (OR = 1.73, P = 0.005) was associated with gastric IM. CONCLUSION Patients who smoke or have the endoscopic finding of atrophic gastritis are more likely to have gastric IM and should have screening gastric biopsies during esophagogastroduodenoscopy (EGD). Patients with gastric IM are at increased risk for having gastric dysplasia and cancer, and surveillance EGD with gastric biopsies in these patients might be reasonable. PMID:28250898

  1. Developmental Dysplasia of the Hip

    MedlinePlus

    ... Lessons? Visit KidsHealth in the Classroom What Other Parents Are Reading Your Child's Development (Birth to 3 Years) Feeding Your 1- to 3-Month-Old Feeding Your 4- to 7-Month-Old Feeding Your 8- to 12-Month-Old Feeding Your 1- to 2-Year-Old ... > For Parents > Developmental Dysplasia of the Hip Print A A ...

  2. A Case of Schizencephaly and Septo-Optic Dysplasia Presenting with Anterior Encephalocele

    PubMed Central

    FADAKAR, Kaveh; DADKHAHFAR, Sahar; ESMAEILI, Arash; KEYHANIDOUST, Zarrintaj

    2012-01-01

    Schizencephaly is a rare central nervous system disorder with variable presentations. Here we report a patient with a huge bilateral schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. PMID:24665280

  3. Very Long Segment Congenital Thoracoabdominal Aortic Coarctation (Diffuse Aortic Dysplasia) with Infrarenal Aortobi-Iliac and Cavobi-Iliac Aplasia in a 30-Year-Old Patient.

    PubMed

    Mamopoulos, Apostolos; Luther, Bernd

    2015-10-01

    Congenital dysplastic aortic syndromes range from coarctation at the aortic isthmus to more extended aortic disease (midaortic syndrome). The latter is usually restricted to dysplastic aortic segments of up to 15 cm. Long segment dysplasia of the entire abdominal or thoracic aorta is extremely rare. This case of a 30-year-old patient with a very long segment congenital thoracoabdominal aortic coarctation and infrarenal aortobi-iliac and cavobi-iliac aplasia represents to our knowledge the most extended congenital vascular malformation in a surviving adult patient. The developed extensive collateral pathways ensured the survival of the patient, so that the main clinical manifestation was a refractory hypertension. Because of the extent of the disease, open surgery represented the only viable option. Interestingly, after 30 years of uncontrollable hypertension, the patient's blood pressure promptly responded to surgical treatment. A concomitant infrarenal aplasia of both the aorta and cava vein is also very unusual and points to a major developmental deficit during vascular embryogenesis.

  4. An extremely rare case: osteosclerotic metaphyseal dysplasia.

    PubMed

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

    2013-01-01

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

  5. Reconstruction of the Acetabulum in Developmental Dysplasia of the Hip in total hip replacement

    PubMed Central

    Sakellariou, Vasileios I.; Christodoulou, Michael; Sasalos, Gregory; Babis, George C.

    2014-01-01

    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 challenging. 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. PMID:25386570

  6. Skeletal dysplasia in ancient Egypt.

    PubMed

    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.

  7. Detection of colorectal dysplasia using fluorescently labelled lectins

    PubMed Central

    Kuo, Joe Chin-Hun; Ibrahim, Ashraf E. K.; Dawson, Sarah; Parashar, Deepak; Howat, William J.; Guttula, Kiran; Miller, Richard; Fearnhead, Nicola S.; Winton, Douglas J.; Neves, André A.; Brindle, Kevin M.

    2016-01-01

    Colorectal cancer screening using conventional colonoscopy lacks molecular information and can miss dysplastic lesions. We tested here the ability of fluorescently labelled lectins to distinguish dysplasia from normal tissue when sprayed on to the luminal surface epithelium of freshly resected colon tissue from the Apcmin mouse and when applied to fixed human colorectal tissue sections. Wheat germ agglutinin (WGA) showed significantly decreased binding to adenomas in the mouse tissue and in sections of human colon from 47 patients. Changes in WGA binding to the human surface epithelium allowed regions containing normal epithelium (NE) or hyperplastic polyps (HP) to be distinguished from regions containing low-grade dysplasia (LGD), high-grade dysplasia (HGD) or carcinoma (C), with 81% sensitivity, 87% specificity and 93% positive predictive value (PPV). Helix pomatia agglutinin (HGA) distinguished epithelial regions containing NE from regions containing HP, LGD, HGD or C, with 89% sensitivity, 87% specificity and 97% PPV. The decreased binding of WGA and HPA to the luminal surface epithelium in human dysplasia suggests that these lectins may enable more sensitive detection of disease in the clinic using fluorescence colonoscopy. PMID:27071814

  8. Thanatophoric Dysplasia: A Case Report

    PubMed Central

    Jyoti; Jain, Rekha; Devendra

    2015-01-01

    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. PMID:26675119

  9. Osteofibrous Dysplasia-like Adamantinoma of the Tibia in a 15-Year-Old Girl.

    PubMed

    Ratra, Atul; Wooldridge, Adam; Brindley, George

    2015-10-01

    Osteofibrous dysplasia and adamantinoma are rare lesions of primary benign and malignant bone tumors with an incidence of less than 1%. These lesions arise primarily in long bones with a predilection for the tibia and fibula. Osteofibrous dysplasia is a benign fibro-osseous lesion typically found in children younger than 10 years. Adamantinomas, however, are highly malignant and invasive tumors found predominantly in adult men, with an average age of diagnosis between 20 and 50 years. Debate continues on whether osteofibrous dysplasia and adamantinoma occupy the same disease spectrum. Within the spectrum of pathology lies a rare benign lesion known as osteofibrous dysplasia-like adamantinoma. This intermediate form has the potential to spontaneously regress or transform into a malignant adamantinoma. We report a rare case of an osteofibrous dysplasia-like adamantinoma of the tibia in a 15-year-old girl. The patient was followed with regular 3- to 6-month follow-ups. The lesion remained stable and showed no progression over 2 years. Given the benign nature of osteofibrous dysplasia and osteofibrous dysplasia-like adamantinoma and the malignant nature of adamantinoma, correctly diagnosing the lesion has significant treatment implications. This case report highlights the rarity of this intermediate form and its potential to remain stable. Such lesions can be observed with frequent follow-ups without the need for surgical intervention.

  10. The surgical management of fibrous dysplasia of bone

    PubMed Central

    2012-01-01

    The surgical management of Polyostotic Fibrous Dysplasia (FD) of bone is technically demanding. The most effective methods to manage the associated bone deformity remain unclear. The marked variation in the degree and pattern of bone involvement has made it difficult to acquire data to guide the surgeon’s approach to these patients. In light of the paucity of data, but need for guidance, recognized experts in the management of these patients came together at the National Institutes of Health in Bethesda, Maryland as part of an International meeting to address issues related to fibrous dysplasia of bone to discuss and refine their recommendations regarding the surgical indications and preferred methods for the management of these challenging patients. The specific challenges, recommended approaches, and “lessons learned” are presented in hopes that surgeons faced with typical deformities can be guided in the surgical reconstruction of both children and adults with FD. PMID:22640754

  11. Renal dysplasia in Beagle dogs: four cases.

    PubMed

    Bruder, Marc C; Shoieb, Ahmed M; Shirai, Norimitsu; Boucher, Germaine G; Brodie, Thomas A

    2010-12-01

    Anomalies of renal development comprise abnormalities in the amount of renal tissue (agenesis and hypoplasia); anomalies of renal position, form, and orientation; and renal dysplasia. There are previous reports of canine renal dysplasia in different breeds but none in the Beagle breed. This is the first report of renal dysplasia in this breed of dog. Morphologic descriptions of the range of microscopic features observed in four cases of renal dysplasia from preclinical studies in laboratory Beagle dogs are presented (including persistent primitive mesenchyme, persistence of metanephric ducts, asynchronous differentiation of nephrons, and atypical tubular epithelium), along with a basis for the classification of the lesion.

  12. Genetics Home Reference: multiple epiphyseal dysplasia

    MedlinePlus

    ... health and development? More about Mutations and Health Inheritance Pattern Multiple epiphyseal dysplasia can have different inheritance patterns. This condition can be inherited in an autosomal ...

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

    PubMed Central

    Kamath, Atul F

    2016-01-01

    For young, active patients with healthy hip cartilage, pelvic osteotomy is a surgical option in to address hip pain and to improve mechanical loading conditions related to dysplasia. Hip dysplasia may lead to arthrosis at an early age due to poor coverage of the femoral head and abnormal loading of the joint articulation. In patients with symptomatic dysplasia and closed triradiate cartilage (generally over age 10), including adolescents and young adults (generally up to around age 40), the Bernese periacetabular osteotomy (PAO) is a durable technique for addressing underlying structural deformity. The PAO involves a modified Smith-Petersen approach. Advantages of the Bernese osteotomy include preservation of the weight-bearing posterior column of the hemi-pelvis, preservation of the acetabular blood supply, maintenance of the hip abductor musculature, and the ability to effect powerful deformity correction about an ideal center of rotation. There is an increasing body of evidence that preservation of the native hip can be improved through pelvic osteotomy. In contrast to hip osteotomy and joint preservation, the role of total hip arthroplasty in young, active patients with correctable hip deformity remains controversial. Moreover, the durability of hip replacement in young patients is inherently limited. Pelvic osteotomy should be considered the preferred method to address correctable structural deformity of the hip in the young, active patient with developmental dysplasia. The Bernese PAO is technically demanding, yet offers reproducible results with good long-term survivorship in carefully selected patients with preserved cartilage and the ability to meet the demands of rehabilitation. PMID:27190755

  14. Guidelines for genetic skeletal dysplasias for pediatricians

    PubMed Central

    Cho, Sung Yoon

    2015-01-01

    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. PMID:26817005

  15. Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

    PubMed Central

    Reardon, W; Hall, C M; Dillon, M J; Baraitser, M

    1991-01-01

    A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered. Images PMID:1956063

  16. Monostotic fibrous dysplasia of the ribs.

    PubMed

    Traibi, Akram; El Oueriachi, Faycal; El Hammoumi, Massine; Al Bouzidi, Abderahman; Kabiri, El Hassane

    2012-01-01

    Fibrous dysplasia (FD) is a sporadic benign skeletal disorder that can affect one bone (monostotic form) or multiple bones (polyostotic bone). Around 6-20% of monostotic FD occurs in the ribs. The objective of this study was to report our experience in the management of the monostotic FD of the ribs. Between January 2004 and December 2009, seven cases of FD of the rib (six men and one woman, mean age 30.4 years, range 17-40 years) were operated on. The patients were evaluated with plain radiographs and computer tomography (CT). All our patients were symptomatic; two patients presented chest pain and swelling and other patients presented only chest pain. One rib was involved in all our patients (monostotic form): the site was fifth rib (four cases), sixth rib (two cases) or second rib (one case). Radiologically, plain films and CT showed an expansible lesion with a ground-glass centre and thinning of the cortex. Rib resection was performed in all patients; there were no postoperative complications and no recurrence in all cases at mean 43 month follow-up. In symptomatic monostotic FD of ribs, the involved segment of bone may be excised to rule out malignancy and for painful lesions.

  17. Spondyloepiphyseal dysplasia tarda in Turner syndrome.

    PubMed

    Massa, G; Vanderschueren-Lodeweyckx, M

    1989-11-01

    A girl with short stature is described in whom chromosomal analysis revealed a 45,X/46,XX mosaicism and in whom radiological investigations disclosed the diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This is the first report of the occurrence of X-linked spondyloepiphyseal dysplasia tarda in a child with Turner syndrome.

  18. What the future holds for ectodermal dysplasias: future research and treatment directions.

    PubMed

    Slavkin, Harold C

    2009-09-01

    A contrarian view suggests that the ectodermal dysplasias, including more than 200 different disorders, represent clinical variability and molecular heterogeneity as well as complex multigene heritable conditions often characterized by dysmorphogenesis of derivatives of embryonic ectoderm and beyond. Controversy exists over which syndromes do or do not belong in the classification of the clinical features that characterize ectodermal dysplasias. For example, Ellis-van Creveld syndrome is characterized by abnormalities of the teeth and hair, as well as of the skeleton and the cardiovascular system. Precision in diagnosis often is a preamble for improved patient diagnosis, treatment and desired outcomes. In tandem, molecular studies of complex epithelial-mesenchymal interactions required for ectodermal derivatives (e.g., hair, nail, skin, teeth, and exocrine glands) continue to identify and explain many signal transduction pathways and networks related to ectodermal dysplasias. Meanwhile, major international investments in fundamental biomedical research continue to yield significant benefits to the larger society. The convergence of informatics, nanotechnology, genomics, and epigenetic studies with clinical medicine and dentistry promise major progress for special needs patients such as ectodermal dysplasias. For example, investments in the molecular biology of genes and their regulation and function now provide more than 30 candidates for specific biomarkers to improve diagnosis, prognosis, treatments, therapeutics, and biomaterials for ectodermal dysplasias. Innovations in high throughput genotyping, gene mapping, single nucleotide polymorphisms (SNPs), interference RNA treatments, bioimaging, tissue engineering and related biomimetic approaches to design and fabricate biomaterials, offer enormous promise for the future of ectodermal dysplasias.

  19. Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

    PubMed Central

    Finsterer, Josef; Stöllberger, Claudia

    2016-01-01

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

  20. Dental Anomalies Associated with Craniometaphyseal Dysplasia

    PubMed Central

    Chen, I.-P.; Tadinada, A.; Dutra, E.H.; Utreja, A.; Uribe, F.; Reichenberger, E.J.

    2014-01-01

    Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal widening of tubular bones. Dental abnormalities are features of CMD that have been little discussed in the literature. We performed dentofacial examination of patients with CMD and evaluated consequences of orthodontic movement in a mouse model carrying a CMD knock-in (KI) mutation (Phe377del) in the Ank gene. All patients have a history of delayed eruption of permanent teeth. Analysis of data obtained by cone-beam computed tomography showed significant bucco-lingual expansion of jawbones, more pronounced in mandibles than in maxillae. There was no measurable increase in bone density compared with that in unaffected individuals. Orthodontic cephalometric analysis showed that patients with CMD tend to have a short anterior cranial base, short upper facial height, and short maxillary length. Microcomputed tomography (micro-CT) analysis in homozygous AnkKI/KI mice, a model for CMD, showed that molars can be moved by orthodontic force without ankylosis, however, at a slower rate compared with those in wild-type Ank+/+ mice (p < .05). Histological analysis of molars in AnkKI/KI mice revealed decreased numbers of TRAP+ osteoclasts on the bone surface of pressure sides. Based on these findings, recommendations for the dental treatment of patients with CMD are provided. PMID:24663682

  1. DYSPLASIA OF HIP DEVELOPMENT: UPDATE

    PubMed Central

    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

  2. [Yunis-Varon syndrome: a case report].

    PubMed

    Elizondo-Dueñaz, Ricardo; Rivera-Silva, Gerardo; Marcos Abdala, Hernán; López-Altamirano, Marcelo; Martínez-Menchaca, Héctor R

    2012-01-01

    In 1980, Yunis-Varon described this disease. Yunis-Varon syndrome is a rare autosomal recessive disease. This cleidocranial dysplasia is characterized by bone and tooth disorders, in addition tends to affect the cardiovascular system and tissues from ectoderm. This report describes the radiologic image of a patient with Yunis-Varon syndrome.

  3. Fibrous Dysplasia in the Epiphysis of the Distal Femur

    PubMed Central

    Noh, Jung Ho; Lee, Jae Woo

    2017-01-01

    Fibrous dysplasia is a common benign skeletal lesion that may involve a single bone or multiple bones. Although fibrous dysplasia can affect any bone, monostotic fibrous dysplasia of the long bone typically occurs in the diaphysis or metaphysis. We report a very rare case of monostotic fibrous dysplasia involving the epiphysis of the distal femur in a young man. PMID:28231652

  4. Canine hip dysplasia: clinical signs and physical diagnosis.

    PubMed

    Fry, T R; Clark, D M

    1992-05-01

    Clinical signs of hip dysplasia include lameness, gait abnormalities, reluctance to exercise, and pelvic limb muscle atrophy with compensatory shoulder muscle hypertrophy. Because these clinical signs are not pathognomonic for CHD, a thorough orthopedic and neurologic examination is recommended for all patients with suspected CHD. Specific maneuvers, including the Barlow, Ortolani, and Barden's signs are useful to characterize the degree of coxofemoral laxity, both as screening tools in young puppies and as diagnostic aids in clinically lame dogs. None of the signs are definitive diagnostic tests for CHD, but they should be performed as sequential maneuvers in the veterinarian's workup for suspected CHD. Pelvic radiography is mandatory to definitively diagnose CHD but should not be the first step in the workup, because other diagnoses may be missed or concurrent conditions may coexist with dysplasia.

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

    PubMed

    Koçak, H; Ceylaner, G

    2009-01-01

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

  6. Postural and Chronological Change in Pelvic Tilt Five Years After Total Hip Arthroplasty in Patients With Developmental Dysplasia of the Hip: A Three-Dimensional Analysis.

    PubMed

    Suzuki, Haruka; Inaba, Yutaka; Kobayashi, Naomi; Ishida, Takashi; Ike, Hiroyuki; Saito, Tomoyuki

    2016-01-01

    The pelvis generally tilts to the posterior with movement from the supine to standing position, and with time after total hip arthroplasty (THA). This study aimed to investigate changes in pelvic tilt from the preoperative supine position to the standing position at 5 years after THA (pelvic change, PC). We measured pelvic tilt using a 2D-3D matching technique in 77 unilaterally affected patients who underwent primary THA. PC in 8% of all patients was ≤-20°, and the greatest PC was -25°. In these patients, posterior pelvic tilt continued up to 5 years after THA. These patients were older, and their lumbo-lordotic angle was small. For such cases, cup orientation should be planned to account for continuous posterior change in pelvic tilt after THA.

  7. Hypoxic Episodes in Bronchopulmonary Dysplasia

    PubMed Central

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

    2015-01-01

    Hypoxic episodes are troublesome components of bronchopulmonary dysplasia in preterm infants. Immature respiratory control appears to be the major contributor, typically superimposed upon abnormal respiratory function. As a result, relatively short respiratory pauses may precipitate desaturation and accompanying bradycardia. As this population is predisposed to pulmonary hypertension, it is likely that pulmonary vasoconstriction may also play a role in hypoxic episodes. The natural history of intermittent hypoxic episodes has been well characterized in the preterm population at risk for BPD. However, the consequences of these episodes are less clear. Proposed associations of intermittent hypoxia include retinopathy of prematurity, sleep disordered breathing, and neurodevelopmental delay. Future study should address whether these associations are causal relationships. PMID:26593081

  8. Genetic Predisposition to Bronchopulmonary Dysplasia

    PubMed Central

    Vivek Lal, Charitharth; Ambalavanan, Namasivayam

    2015-01-01

    Objective To review the candidate gene and genome-wide association studies relevant to bronchopulmonary dysplasia, and discuss the emerging understanding of the complexities involved in genetic predisposition to bronchopulmonary dysplasia and its outcomes. Findings 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, phosphorus oxygen lyase activity) and indicated novel molecules and pathways (e.g. adenosine deaminase, 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. Conclusion 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). PMID:26471063

  9. Genetics Home Reference: hypohidrotic ectodermal dysplasia

    MedlinePlus

    ... structures including the skin , hair, nails, teeth, and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than ...

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

    MedlinePlus

    ... developmental dysplasia (dislocation) of the hip (DDH), the hip joint has not formed normally. The ball is loose ... be taken to provide detailed pictures of the hip joint. Treatment When DDH is detected at birth, it ...

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

    PubMed

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

    2009-01-01

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

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

    PubMed

    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.

  13. Frontonasal dysplasia associated with tetralogy of Fallot.

    PubMed Central

    De Moor, M M; Baruch, R; Human, D G

    1987-01-01

    Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed. Images PMID:3560167

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

    PubMed

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

    2007-01-01

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

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

    PubMed

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

    2016-04-01

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

  16. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

    PubMed

    Yoshida, Kazue; Hayashi, Ryota; Fujita, Hideki; Kubota, Masaya; Kondo, Mai; Shimomura, Yutaka; Niizeki, Hironori

    2015-07-01

    Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process.

  17. Association between clinical variables related to asthma in schoolchildren born with very low birth weight with and without bronchopulmonary dysplasia

    PubMed Central

    Gonçalves, Emília da Silva; Mezzacappa-Filho, Francisco; Severino, Silvana Dalge; Ribeiro, Maria Ângela Gonçalves de Oliveira; Marson, Fernando Augusto de Lima; Morcilo, Andre Moreno; Toro, Adyléia Aparecida Dalbo Contrera; Ribeiro, José Dirceu

    2016-01-01

    Abstract Objective: To assess the prevalence, spirometry findings and risk factors for asthma in schoolchildren who were very low birth weight infants with and without bronchopulmonary dysplasia. Methods: Observational and cross-sectional study. The parents and/or tutors answered the International Study of Asthma and Allergies in Childhood questionnaire. The schoolchildren were submitted to the skin prick test and spirometry assessment. Results: 54 schoolchildren who were very low birth weight infants were assessed and 43 met the criteria for spirometry. Age at the assessment (bronchopulmonary dysplasia=9.5±0.85; without bronchopulmonary dysplasia=10.1±0.86 years) and birth weight (bronchopulmonary dysplasia=916.7±251.2; without bronchopulmonary dysplasia=1171.3±190.5g) were lower in the group with bronchopulmonary dysplasia (p<0.05). The prevalence of asthma among very low birth weight infants was 17/54 (31.5%), being 6/18 (33.3%) in the group with bronchopulmonary dysplasia. There was an association between wool blanket use in the first year of life (p=0.026) with the presence of asthma at school age. The skin prick test was positive in 13/17 (76.5%) and 23/37 (62.2%) of patients with and without asthma, respectively. The schoolchildren with asthma had lower z-score values of forced expiratory flow between 25% and 75% of forced vital capacity (n=16;−1.04±1.19) when compared to the group of patients without asthma (n=27;−0.380.93) (p=0.049). There was no difference between the spirometry variables in the groups regarding the presence or absence of bronchopulmonary dysplasia. Conclusions: Very low birth weight infants with and without bronchopulmonary dysplasia showed a high prevalence of asthma (33.3% and 30.6%, respectively). Pulmonary flow in the small airways was lower in children with asthma. PMID:26987782

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

    PubMed

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

    2016-01-01

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

  19. Endoscopic mucosal resection for high-grade dysplasia and intramucosal carcinoma: a Canadian experience

    PubMed Central

    Yamashita, Denise Tami; Li, Chao; Bethune, Drew; Henteleff, Harry; Ellsmere, James

    2017-01-01

    Background Endoscopic mucosal resection (EMR) is increasingly being used as a first-line treatment for Barrett esophagus (BE) with high-grade dysplasia (HGD) and intramucosal adenocarcinoma (IMC). We reviewed our experience with endoscopic treatment of BE with HGD and IMC at our institution with respect to eradication rates, complications and long-term recurrence. Methods We performed a single-centre retrospective review of all patients referred between October 2010 and August 2014 for EMR with dysplastic BE or IMC. We performed EMR using a cap-fitted endoscope, and the procedure was repeated every 3 months until eradication or progression of disease. Results A total of 28 patients were identified: 16 with dysplastic BE (14 HGD, 1 low-grade dysplasia, 1 intermediate dysplasia) and 12 with IMC. Complete eradication of HGD was achieved in 11 of 14 (79%) patients. Three of 12 (25%) patients initially referred with suspected IMC were found to have invasive adenocarcinoma on EMR. Eradication was successful in 8 of 9 (89%) patients with true IMC, with 1 patient progressing to salvage esophagectomy. Complications occurred in 2 of 28 (7%) patients; both had esophageal strictures managed with dilatation. Median duration of follow-up was 371 days. Conclusion Our experience supports the safety of EMR as a first-line treatment for patients with BE with dysplasia and IMC in early short-term follow-up. PMID:28338468

  20. Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.

    PubMed

    Rossi, A; Bonaventure, J; Delezoide, A L; Cetta, G; Superti-Furga, A

    1996-08-02

    Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate/chloride antiporter of the cell membrane (Superti-Furga, A., Hästbacka, J., Wilcox, W. R., Cohn, D. H., van der Harten, J. J., Rossi, A., Blau, N., Rimoin, D. L., Steinmann, B., Lander, E. S., and Gitzelmann, R.(1996) Nat. Genet. 12, 100-102). To ascertain the consequences of the sulfate transport defect on proteoglycan synthesis, we studied the structure and sulfation of proteoglycans in cartilage tissue and in fibroblast and chondrocyte cultures from a fetus with achondrogenesis 1B. Proteoglycans extracted from epiphyseal cartilage and separated on agarose gels migrated more slowly than controls and stained poorly with alcian blue. The patient's cultured cells showed reduced incorporation of [35S]sulfate relative to [3H]glucosamine, impaired uptake of sulfate, and higher resistance to chromate toxicity compared to control cells. Epiphyseal chondrocytes cultured in alginate beads synthesized proteoglycans of normal molecular size as judged by gel filtration chromatography, but undersulfated as judged by ion exchange chromatography and by the amount of nonsulfated disaccharide. High performance liquid chromatography analysis of chondroitinase-digested proteoglycans showed that sulfated disaccharides were present, although in reduced amounts, indicating that at least in vitro, other sources of sulfate can partially compensate for sulfate deficiency. A t1475c transition causing a L483P substitution in the eleventh transmembrane domain of the sulfate/chloride antiporter was present on both alleles in the patient who was the product of a consanguineous marriage. The results indicate that the defect of sulfate transport is expressed in both chondrocytes and fibroblasts and results in the synthesis of proteoglycans bearing glycosaminoglycan chains which are poorly sulfated but of normal length.

  1. Septooptic Dysplasia with an Associated Arachnoid Cyst

    PubMed Central

    McLaurin-Jiang, Skyler V.; Wood, Julie K.

    2016-01-01

    A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia. Magnetic resonance imaging of the brain confirmed the known history of arachnoid cyst with hydrocephalus but also revealed anterior pituitary hypoplasia, absence of the posterior pituitary bright spot, a thin pituitary stalk, and bilateral optic nerve hypoplasia. A diagnosis of septooptic dysplasia (SOD) was made. Hormone replacement with hydrocortisone and levothyroxine was started with improvement in the infant's glycemic control, thermoregulation, feeding, and cholestasis. This case reinforces the importance of careful physical examination and laboratory review in a patient with known history of arachnoid cyst which has been previously described as an associated feature of optic nerve hypoplasia and hypopituitarism. PMID:27891281

  2. Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.

    PubMed Central

    Acers, T E

    1981-01-01

    Forty-five patients with the common clinical factor of optic nerve hypoplasia are analyzed regarding their clinical appearance, echographic and computed tomographic measurements of the optic nerves, and the correlation of anatomic size with visual function. Computed axial tomographic studies of the midline brain were performed on all 45 patients to determine the incidence of correlated structural defects, especially the septum pellucidum, and neuroendocrine dysfunction. Review of the spectrum of septo-optic-pituitary syndrome is separately developed to include historical background, embryogenesis, histopathology, and pathogenesis of the three major components of the syndrome. In summary, 45 patients had optic nerve hypoplasia, 32 with evidence of segmental or partial hypoplasia and 13 with evidence of complete or diffuse hypoplasia--the optic nerve hypoplasia syndrome. Twelve of these patients demonstrated absence of the septum pellucidum by computed axial tomography--the septo-optic dysplasia syndrome. Of these 12 patients with partial or complete absence of the septum pellucidum, six demonstrated evidence of pituitary hypofunction--the septo-optic-pituitary dysplasia syndrome. Images FIGURE 2 FIGURE 3 a FIGURE 3 b FIGURE 4 a FIGURE 4 b FIGURE 4 c FIGURE 4 d PMID:7043865

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

    PubMed

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

    2009-04-01

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

  4. Holoprosencephaly with caudal dysplasia. Pseudo-trisomy 13 or a distinct entity?

    SciTech Connect

    Hicks, R.P.B.; Aylsworth, A.S.; Timmons, M.C.

    1994-09-01

    We have studied three chromosomally normal patients with multiple anomalies that include holoprosencephaly and caudal dysplasia. Each has features found in patients with pseudo-trisomy 13, though each lacks malformations common in that syndrome. Patients 1 and 2 did not have polydactyly and patients 2 and 3 had no congenital heart malformation. Patient 1 is also unusual in that he does not have typical holoprosencephalic facies and is alive at age 25 months. We have also identified two other similar patients in the London Dysmorphology Database, each of which had holoprosencephaly, congenital heart malformation, and imperforate anus. Isolated caudal dysplasia and holoprosencephaly are both causally heterogeneous. They have been reported together rarely in patients with several different syndromes including chromosomal abnormalities, monogenic syndromes, teratogenic insults, and syndromes of unknown cause. Over thirty cases of {open_quotes}pseudo-trisomy 13{close_quotes} have now been reported and eight of these have had features of caudal dysplasia. There have been four with imperforate anus or anal stenosis, one with lumbosacral vertebral anomaly, and three others with bilateral renal agenesis or hypoplasia. Based on our patients and this review of other reported and unreported cases, we suggest that caudal dysplasia may be a significant clinical feature of pseudo-trisomy 13. Alternatively, holoprosencephaly and caudal dysplasia with a normal karyotype may represent a similar though distinct entity. Some may have submicroscopic chromosomal deletions. Molecular studies of regions known to be associated with holoprosencephaly are currently in progress on tissue from Patient 1. We hope these observations will stimulate reports of similarly affected patients to allow better definition of pseudo-trisomy 13 and other overlap syndromes.

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

    PubMed

    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.

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

    PubMed

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

    2014-01-01

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

  7. Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

    PubMed Central

    Oegema, Renske; Cushion, Thomas D.; Phelps, Ian G.; Chung, Seo-Kyung; Dempsey, Jennifer C.; Collins, Sarah; Mullins, Jonathan G.L.; Dudding, Tracy; Gill, Harinder; Green, Andrew J.; Dobyns, William B.; Ishak, Gisele E.; Rees, Mark I.; Doherty, Dan

    2015-01-01

    Mutations in alpha- and beta-tubulins are increasingly recognized as a major cause of malformations of cortical development (MCD), typically lissencephaly, pachygyria and polymicrogyria; however, sequencing tubulin genes in large cohorts of MCD patients has detected tubulin mutations in only 1–13%. We identified patients with a highly characteristic cerebellar dysplasia but without lissencephaly, pachygyria and polymicrogyria typically associated with tubulin mutations. Remarkably, in seven of nine patients (78%), targeted sequencing revealed mutations in three different tubulin genes (TUBA1A, TUBB2B and TUBB3), occurring de novo or inherited from a mosaic parent. Careful re-review of the cortical phenotype on brain imaging revealed only an irregular pattern of gyri and sulci, for which we propose the term tubulinopathy-related dysgyria. Basal ganglia (100%) and brainstem dysplasia (80%) were common features. On the basis of in silico structural predictions, the mutations affect amino acids in diverse regions of the alpha-/beta-tubulin heterodimer, including the nucleotide binding pocket. Cell-based assays of tubulin dynamics reveal various effects of the mutations on incorporation into microtubules: TUBB3 p.Glu288Lys and p.Pro357Leu do not incorporate into microtubules at all, whereas TUBB2B p.Gly13Ala shows reduced incorporation and TUBA1A p.Arg214His incorporates fully, but at a slower rate than wild-type. The broad range of effects on microtubule incorporation is at odds with the highly stereotypical clinical phenotype, supporting differential roles for the three tubulin genes involved. Identifying this highly characteristic phenotype is important due to the low recurrence risk compared with the other (recessive) cerebellar dysplasias and the apparent lack of non-neurological medical issues. PMID:26130693

  8. Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

    PubMed

    Barbosa, M; Sousa, A B; Medeira, A; Lourenço, T; Saraiva, J; Pinto-Basto, J; Soares, G; Fortuna, A M; Superti-Furga, A; Mittaz, L; Reis-Lima, M; Bonafé, L

    2011-12-01

    SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). The Arg279Trp mutation was present in all patients, either in homozygosity (resulting in rMED) or in compound heterozygosity with the known severe alleles Arg178Ter or Asn425Asp (resulting in DTD) or with the mutation c.727-1G>C (causing mDTD). The 'Finnish mutation', c.-26+2T>C, and the p.Cys653Ser, both frequent mutations in non-Portuguese populations, were not identified in any of the patients of our cohort and are probably very rare in the Portuguese population. A targeted mutation analysis for p.Arg279Trp and p.Arg178Ter in the Portuguese population allows the identification of approximately 90% of the pathogenic alleles.

  9. Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions.

    PubMed

    Leithauser, Laurel A; Mutasim, Diya F

    2012-04-01

    Hereditary mucoepithelial dysplasia (HMD) is a rare, autosomal dominantly inherited, multisystem disease thought to be caused by abnormalities in desmosomes and gap junctions. HMD affects the skin, mucosae, hair, eyes and lungs. Nearly all patients clinically display the triad of non-scarring alopecia, well-demarcated mucosal erythema and erythematous intertriginous plaques. Although histopathological findings of mucous membrane epithelium have been well characterized, only three reports have described histopathologic findings in the skin. We report a case with unique histopathological findings not previously reported in HMD.

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

    PubMed

    Murphy, Geoff; Bartle, Sam

    2006-07-01

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

  11. Computed tomography findings of a patient with severe dysplasia of the inner ear and recurrent meningitis: a case report of gusher ear in a five-year old boy.

    PubMed

    Alizadeh, Houman; Nasri, Fatemeh; Mehdizadeh, Mehrzad; Jamsa, Shahin

    2014-08-01

    Communication between subarachnoid and perlymphatic spaces can be due to a deficiency of lamina cribrosa (stapes gusher). Recognition of the condition may alter the course of treatment that can avoid perilymph gushing. A five-year-old boy presented with a history of congenital hearing loss and recurrent meningitis. The computed tomography (CT) of the temporal bone showed severe bilateral dysplasia in the inner ears in favor of gusher disease.

  12. Computed Tomography Findings of a Patient With Severe Dysplasia of the Inner Ear and Recurrent Meningitis: A Case Report of Gusher Ear in a Five-Year Old Boy

    PubMed Central

    Alizadeh, Houman; Nasri, Fatemeh; Mehdizadeh, Mehrzad; Jamsa, Shahin

    2014-01-01

    Communication between subarachnoid and perlymphatic spaces can be due to a deficiency of lamina cribrosa (stapes gusher). Recognition of the condition may alter the course of treatment that can avoid perilymph gushing. A five-year-old boy presented with a history of congenital hearing loss and recurrent meningitis. The computed tomography (CT) of the temporal bone showed severe bilateral dysplasia in the inner ears in favor of gusher disease. PMID:25763081

  13. Polypoid Dysplasia in Barrett's Esophagus: Diagnosis, Management, and Very Different Outcomes in Two Consecutive Cases

    PubMed Central

    Murphy, Megan; Gandhi, Kunjal; Infantolino, Anthony

    2016-01-01

    Background. Barrett's esophagus is associated with an increased risk of adenocarcinoma. Dysplasia in Barrett's esophagus is a precursor to adenocarcinoma. Rarely, dysplastic polypoid lesions are superimposed on Barrett's esophagus. Most reported cases of polypoid dysplasia in Barrett's esophagus have been advanced on presentation and treated with esophagectomy. We describe two cases of polypoid changes in Barrett's esophagus and treatment with polypectomy followed by radiofrequency ablation. Cases. A 75 yo male presented with esophageal polyps, which on biopsy showed gastric cardia/foveolar mucosa with focal intestinal metaplasia without dysplasia. Biopsy of intervening flat mucosa was consistent with nondysplastic Barrett's esophagus. Extensive hot snare polypectomies were performed followed by RFA. One year later, repeat EGD revealed no evidence of Barrett's esophagus. A 61 yo male presented with esophageal polyps, which on biopsy showed gastric cardia/foveolar mucosa with intestinal metaplasia and foci of low-grade dysplasia. Extensive hot snare polypectomies were performed followed by RFA. At repeat EGD, four months later, an esophageal mass was found. Biopsy of the mass showed invasive adenocarcinoma. The patient was referred for esophagectomy. Conclusion. This case series shows two outcomes, one with successful eradication of dysplasia and the other with disease progression to invasive adenocarcinoma requiring esophagectomy. PMID:27999692

  14. Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

    PubMed Central

    Murray, L W; Bautista, J; James, P L; Rimoin, D L

    1989-01-01

    The spondyloepiphyseal dysplasias (SEDs) and spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with and without varying degrees of metaphyseal irregularities, flattened vertebral bodies, and myopia. To better define the underlying cause of these disorders, we have analyzed the collagens from costal cartilage from several of these patients, using SDS-polyacrylamide gel electrophoresis (SDS-PAGE) and high-performance liquid chromatography (HPLC) of intact chains and cyanogen bromide (CNBr) peptides and amino acid analysis. In almost all of the patients in this study group, the type II collagen exhibited a slower electrophoretic mobility when compared with that in normal controls. The mobility of many, but not all, of the CNBr peptides was also retarded. Peptides near the amino terminus were almost always altered, while the mobility of peptides close to the carboxyl terminus were normal in all but the severely affected cases. Analysis of the CNBr peptides on an HPLC sieving column confirmed that the electrophoretically abnormal peptides were of a higher molecular weight than were control peptides. Amino acid analysis indicated that the abnormal collagens have a higher ratio of hydroxylysine to lysine than does control collagen, suggesting that overmodification may be involved in the altered mobility. Our results are consistent with a defect in the collagen helix that results in overmodification of the molecule from that point toward the amino terminus. We propose that some forms of SED and SEMD are associated with abnormalities in type II collagen that results in delayed helix formation and consequent overmodification of the collagen. Cases of SED fit onto a continuous spectrum of clinical severity that correlates positively with both the extent of alteration and the proximity of the defect to the carboxyl terminus. Images Figure 1 Figure 2 PMID:2741952

  15. Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma.

    PubMed

    Kahn, Leonard B

    2003-05-01

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

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

    PubMed

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

    2017-03-01

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

  17. Monostotic fibrous dysplasia of the spine: report of a case involving a cervical vertebra.

    PubMed

    Proschek, D; Orler, R; Stauffer, E; Heini, P

    2007-02-01

    Monostotic fibrous dysplasia of the spine is a rare entity. Only 26 cases, of which 11 were located in the cervical spine, are to be found in the literature. We report a 56-year-old male patient with cervicobrachialgia of half year's duration. Radiographs showed a diffuse destruction of the vertebral body and the spinous process of C4. A biopsy of the spinous process confirmed histopathologically a fibrous dysplasia. Due to minor symptoms, no surgical treatment was performed or is planned unless in case of increasing pain, an acute instability or neurological symptoms.

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

    PubMed

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

    1994-01-01

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

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

    PubMed

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

    1990-03-01

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

  20. Hip resurfacing after iliofemoral distraction for type IV developmental dysplasia of the hip a case report.

    PubMed

    Sambri, A; Cadossi, M; Mazzotti, A; Faldini, C; Giannini, S

    2015-01-01

    Osteoarthritis secondary to developmental dysplasia of the hip is a surgical challenge because of the modified anatomy of the acetabulum which is deficient in its shape with poor bone quality, torsional deformities of the femur and the altered morphology of femoral head. Particularly in Crowe type III and IV, additional surgical challenges are present, such as limb-length discrepancy and adductor muscle contractures. This is a bilateral hip dysplasia case where bilateral hip replacement was indicated, on the left side with a resurfacing one and on the other side a two stage procedure using a iliofemoral external fixator to restore equal leg length with a lower risk of complications. This case report shows both the negative clinical outcome of the left and the excellent one of the right hip where the dysplasia was much more severe. Patient selection and implant positioning are crucial in determining long-term results.

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

    PubMed Central

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

    2016-01-01

    Abstract McCune Albright syndrome (MCA) is a rare complication of genetic origin. The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones. The symptoms of the disease in the patient’s facial and oral tissue and the treatment administered have been described. PMID:28352837

  2. Denosumab treatment for fibrous dysplasia.

    PubMed

    Boyce, Alison M; Chong, William H; Yao, Jack; Gafni, Rachel I; Kelly, Marilyn H; Chamberlain, Christine E; Bassim, Carol; Cherman, Natasha; Ellsworth, Michelle; Kasa-Vubu, Josephine Z; Farley, Frances A; Molinolo, Alfredo A; Bhattacharyya, Nisan; Collins, Michael T

    2012-07-01

    Fibrous dysplasia (FD) is a skeletal disease caused by somatic activating mutations of the cyclic adenosine monophosphate (cAMP)-regulating protein, α-subunit of the Gs stimulatory protein (G(s) α). These mutations lead to replacement of normal bone by proliferative osteogenic precursors, resulting in deformity, fracture, and pain. Medical treatment has been ineffective in altering the disease course. Receptor activator of NF-κB ligand (RANKL) is a cell-surface protein involved in many cellular processes, including osteoclastogenesis, and is reported to be overexpressed in FD-like bone cells. Denosumab is a humanized monoclonal antibody to RANKL approved for treatment of osteoporosis and prevention of skeletal-related events from bone metastases. We present the case of a 9-year-old boy with severe FD who was treated with denosumab for a rapidly expanding femoral lesion. Immunohistochemical staining on a pretreatment bone biopsy specimen revealed marked RANKL expression. He was started on monthly denosumab, with an initial starting dose of 1 mg/kg and planned 0.25 mg/kg dose escalations every 3 months. Over 7 months of treatment he showed marked reduction in pain, bone turnover markers (BTMs), and tumor growth rate. Denosumab did not appear to impair healing of a femoral fracture that occurred while on treatment. With initiation of treatment he developed hypophosphatemia and secondary hyperparathyroidism, necessitating supplementation with phosphorus, calcium, and calcitriol. BTMs showed rapid and sustained suppression. With discontinuation there was rapid and dramatic rebound of BTMs with cross-linked C-telopeptide (reflecting osteoclast activity) exceeding pretreatment levels, accompanied by severe hypercalcemia. In this child, denosumab lead to dramatic reduction of FD expansion and FD-related bone pain. Denosumab was associated with clinically significant disturbances of mineral metabolism both while on treatment and after discontinuation. Denosumab treatment

  3. Diagnostic yield of endomicroscopy for dysplasia in primary sclerosing cholangitis associated inflammatory bowel disease: a feasibility study

    PubMed Central

    Dlugosz, Aldona; Barakat, Ammar Mohkles; Björkström, Niklas K.; Öst, Åke; Bergquist, Annika

    2016-01-01

    Background and study aims: Primary sclerosing cholangitis associated inflammatory bowel disease (PSC-IBD) is characterized by a high risk of colorectal dysplasia. Surveillance colonoscopies with random biopsies have doubtful power for dysplasia detection. Our aim was to prospectively investigate the feasibility and efficacy of pCLE in surveillance colonoscopies in patients with PSC-IBD. Patients and methods: Sixty-nine patients with PSC-IBD underwent colonoscopy in 2 steps. On the way from rectum to cecum, the mucosa was inspected with high definition endoscopy (HDE) and random biopsies were taken according to the standard routine. On the way from cecum to rectum, fluorescein-enhanced pCLE and chromoendoscopy were performed. Regions where random biopsies had been taken, as well as visible lesions, were examined with pCLE and targeted biopsies were taken of lesions suspicious for dysplasia. Two investigators, blinded to histology and endoscopy results, analyzed all pCLE videos off-line. Results: Nineteen biopsies obtained in 13 patients (17 targeted biopsies, 2 random biopsies) revealed the presence of low-grade dysplasia. Thirteen lesions with dysplasia were endoscopically visible but by using pCLE-targeted biopsies, additional endoscopically invisible dysplasias in 4 biopsies obtained from 3 patients were detected. The sensitivity, specificity, and accuracy of pCLE in predicting dysplasia were respectively 89 % (95 % CI: 65 – 98), 96 % (95 % CI: 94 – 97), and 96 % (95 % CI: 94 – 97). pCLE showed a good performance for differentiating neoplastic from non-neoplastic mucosa with negative predictive value of 99 %. Conclusions: pCLE in PSC-IBD surveillance is feasible and may be a good complement to HDE. Future research should aim at elucidating whether real-time pCLE is applicable in PSC-IBD surveillance. PMID:27540581

  4. Mucin1 expression in focal epidermal dysplasia of actinic keratosis

    PubMed Central

    Carrillo, Luz Marina; Rojas, Héctor; Ramírez, Richard; Reyes, Oscar; Suárez, Ambar; Ortega, Fabiana

    2015-01-01

    Background Actinic keratoses (AKs) are generally considered as premalignant skin lesions that can progress into squamous cell carcinoma (SCC) in situ and invasive SCC. However, its progression to SCC is still matter of debate. A transmembrane glycoprotein that contributes to the progression of certain premalignant and malignant lesions is mucin1 (MUC1). Nevertheless, their functions in the skin lesions are not yet fully clear. Therefore, the aim of this study is to ascertain whether MUC1 is present in the focal epidermal dysplasia of AK. Methods Fourteen skin biopsies from patients diagnosed with AK were selected. They were classified according to the degree of dysplasia in keratinocyte intraepidermal neoplasia (KIN) I, KIN II, and KIN III. In five biopsies the three degrees were present, in two biopsies both KIN I and KIN II, in four biopsies only KIN I, and in three biopsies only KIN III. The presence of MUC1 was assessed by immunofluorescence staining using confocal laser scanning microscopy. Results Immunostaining revealed that MUC1 was present over the entire cell surface of only a few atypical basal keratinocytes confined to the lower third of the epidermis (KIN I). While in KIN II where atypical keratinocytes occupy the lower two thirds, MUC1 was localized at the apical surface of some atypical keratinocytes and over the entire cell surface of some of them. Interestingly, in KIN III where the atypical keratinocytes extend throughout the full thickness, MUC1 was localized at the apical surface and over the entire cell surface of many of these cells. Conversely, MUC1 expression was not detected in the epidermis of normal skin. Conclusions Our findings suggest that the expression of MUC1 in AK would be induced by alteration of keratinocyte stratification and differentiation and associated to the degree of dysplasia rather than the thickness of the epidermis. PMID:26605291

  5. [Gorlin-Cohen syndrome (frontometaphyseal dysplasia)].

    PubMed

    Kleinsorge, H; Böttger, E

    1977-11-01

    The classical case of a Gorlin-Cohen-Syndrom (= fronto-metaphyseal dysplasis=FMD) is presented. The disease has been mentioned in literature for the first time in 1969 and has been described four times up to now. The characteristic features of this syndrome are very prominent supraorbital ridges with generalized bone dysplasia and joint deformities.

  6. IQ Measurement in Children with Skeletal Dysplasia.

    ERIC Educational Resources Information Center

    Rogers, John G.; And Others

    1979-01-01

    IQ studies on 68 children (5 months-15 years) with skeletal dysplasia (dwarfism) were reviewed to provide counseling to parents of newborn affected children. Results of the study show that this population performs intellectually in the same range as other children. Journal availability: see EC 115 198. (PHR)

  7. ["Standing waves": differential diagnosis of fibromuscular dysplasia].

    PubMed

    Joseph, J M; Doenz, F; Mosimann, F

    1994-12-01

    We report two recent observations of an angiographic artefact called "standing waves". It results in the same characteristic beaded pictures than fibromuscular dysplasia. It is induced by the angiography catheter and is related to the speed of injection. The possible occurrence of this artefact should be borne in mind whenever the films show dysplastic lesions in more than one artery.

  8. MR Findings of the Osteofibrous Dysplasia

    PubMed Central

    Jung, Joon-Yong; Hong, Sung Hwan; Kang, Heung Sik; Chung, Hye Won; Ryu, Kyung-Nam; Kim, Jee-Young; Im, Soo-A; Park, Jeong-Mi; Sung, Mi-Sook; Lee, Yeon-Soo; Hong, Suk-Joo; Jung, Chan-Kwon; Chung, Yang-Guk

    2014-01-01

    Objective The aim of this study was to describe MR findings of osteofibrous dysplasia. Materials and Methods MR images of 24 pathologically proven osteofibrous dysplasia cases were retrospectively analyzed for a signal intensity of the lesion, presence of intralesional fat signal, internal hypointense band, multilocular appearance, cortical expansion, intramedullary extension, cystic area, cortical breakage and extraosseous extension, abnormal signal from the adjacent bone marrow and soft tissue and patterns of contrast enhancement. Results All cases of osteofibrous dysplasia exhibited intermediate signal intensity on T1-weighted images. On T2-weighted images, 20 and 4 cases exhibited heterogeneously intermediate and high signal intensity, respectively. Intralesional fat was identified in 12% of the cases. Internal low-signal bands and multilocular appearance were observed in 91%. Cortical expansion was present in 58%. Intramedullary extension was present in all cases, and an entire intramedullary replacement was observed in 33%. Cortical breakage (n = 3) and extraosseous mass formation (n = 1) were observed in cases with pathologic fractures only. A cystic area was observed in one case. Among 21 cases without a pathologic fracture, abnormal signal intensity in the surrounding bone marrow and adjacent soft tissue was observed in 43% and 48%, respectively. All cases exhibited diffuse contrast enhancement. Conclusion Osteofibrous dysplasia exhibited diverse imaging features ranging from lesions confined to the cortex to more aggressive lesions with complete intramedullary involvement or perilesional marrow edema. PMID:24497800

  9. Fibrous Dysplasia: An Overview of Disease Process, Indications for Surgical Management, and a Case Report

    PubMed Central

    Salcedo, Samuel E.; Borad, Vedant; Richards, Sara S.; Workman, Adrienne D.; Ray, Andrea O.

    2015-01-01

    Introduction: First described by Von Recklinghausen in 1891, fibrous dysplasia is a developmental defect of osseous tissue such that bone is produced with an abnormally thin cortex and marrow is replaced with fibrous tissue that demonstrates characteristic ground-glass appearance on x-ray examination. The underlying defect in fibrous dysplasia is a mutation of the GNAS1 gene, which leads to constitutive activation of gene products that preclude the maturation of osteoprogenitor cells and lead to development of abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. There exists a mainly self-limiting form of fibrous dysplasia classified as monostotic, which is characterized by dysplastic bone in a single location that remains relatively stable throughout life and a polyostotic form, which can exhibit aggressive growth placing adjacent structures at risk for compressive sequelae. Methods: We present the surgical management of an unusual case of monostotic fibrous dysplasia, which exhibited aggressive growth with mass effect, and late presentation, both uncharacteristic features for the monostotic form. The authors also performed a comprehensive review of the literature and discuss the disease process, management options, and indications for surgical treatment. Results: An overview of the disease process and management options is presented. The authors also present details of reconstruction in an unusual form of symptomatic monostotic fibrous dysplasia. Conclusion: Conservative management is usually the mainstay of therapy in asymptomatic cases of fibrous dysplasia. In patients fulfilling criteria for surgical management, craniofacial reconstruction offers a viable option in the surgeon's armamentarium, providing good functional and cosmetic outcomes. PMID:25848443

  10. Gene Expression Profiling in Preterm Infants: New Aspects of Bronchopulmonary Dysplasia Development

    PubMed Central

    Pietrzyk, Jacek J.; Kwinta, Przemko; Wollen, Embjorg J.; Bik-Multanowski, Mirosław; Madetko-Talowska, Anna; Günther, Clara-Cecilie; Jagła, Mateusz; Tomasik, Tomasz; Saugstad, Ola D.

    2013-01-01

    Rationale Bronchopulmonary dysplasia is one of the most serious complications observed in premature infants. Thanks to microarray technique, expression of nearly all human genes can be reliably evaluated. Objective To compare whole genome expression in the first month of life in groups of infants with and without bronchopulmonary dysplasia. Methods 111 newborns were included in the study. The mean birth weight was 1029g (SD:290), and the mean gestational age was 27.8 weeks (SD:2.5). Blood samples were drawn from the study participants on the 5th, 14th and 28th day of life. The mRNA samples were evaluated for gene expression with the use of GeneChip® Human Gene 1.0 ST microarrays. The infants were divided into two groups: bronchopulmonary dysplasia (n=68) and control (n=43). Results Overall 2086 genes were differentially expressed on the day 5, only 324 on the day 14 and 3498 on the day 28. Based on pathway enrichment analysis we found that the cell cycle pathway was up-regulated in the bronchopulmonary dysplasia group. The activation of this pathway does not seem to be related with the maturity of the infant. Four pathways related to inflammatory response were continuously on the 5th, 14th and 28th day of life down-regulated in the bronchopulmonary dysplasia group. However, the expression of genes depended on both factors: immaturity and disease severity. The most significantly down-regulated pathway was the T cell receptor signaling pathway. Conclusion The results of the whole genome expression study revealed alteration of the expression of nearly 10% of the genome in bronchopulmonary dysplasia patients. PMID:24194948

  11. Loss of ELF3 immunoexpression is useful for detecting oral squamous cell carcinoma but not for distinguishing between grades of epithelial dysplasia.

    PubMed

    AbdulMajeed, Ahmad A; Dalley, Andrew J; Farah, Camile S

    2013-08-01

    Early diagnosis and targeted therapy are crucial to mitigating the morbidity and mortality of oral squamous cell carcinoma. Among the potentially malignant oral disorders, epithelial dysplasia has known association with malignant transformation, but defensible gradation of dysplasia severity presents unmet challenges. Published microarray data has denoted dysregulation of CLSP, ELF3, IFI44, USP18, and CXCL13 genes in potentially malignant oral disorders. The present study investigated the diagnostic potential of these gene products to grade oral epithelial dysplasia severity. Archived biopsies from independent patient cohorts comprised "training" (n=107) and "test" (n=278) sample sets. Immunoreactivity for candidate markers was determined in the "training" set of normal oral mucosa (NOM), mild dysplasia (MD), moderate to severe dysplasia, and oral squamous cell carcinoma (OSCC). The diagnostic potential of ELF3 immunoscoring to improve detection and severity gradation of epithelial dysplasia was assessed with the "test" set. A reciprocal relationship between disease severity and immunoreactivity score for CLSP and ELF3 was observed (MD/NOM to OSCC: P<.08, Mann-Whitney U test), whereas elevated IFI44 immunostaining was present for OSCC compared to MD/NOM (P<.08, Mann-Whitney U test). Loss of ELF3 immunostaining effectively distinguished OSCC from non-malignant tissues (sensitivity=0.81; specificity=0.56; area under the curve [AUC]=0.68) but did not distinguish dysplasia from NOM (sensitivity=0.55; specificity=0.40; AUC=0.47) or moderate to severe dysplasia from MD (sensitivity=0.63; specificity=0.51; AUC=0.57). The results confirm via immunohistochemistry the relevance of published CLSP, ELF3, and IFI44 (but not USP18 or CXCL13) gene expression data to potentially malignant oral lesion severity. Loss of ELF3 immunostaining discriminated OSCC from dysplasia but was unreliable for grading dysplasia severity.

  12. Non-invasive treatment options for focal cortical dysplasia

    PubMed Central

    WANG, TING-TING; ZHOU, DONG

    2016-01-01

    Focal cortical dysplasia (FCD) presents a strong clinical challenge especially for the treatment of the associated epilepsy. Epilepsy in FCD is often treatment-resistant and constitutes 50% of treatment-resistant cases. Antiepileptic drugs (AEDs) have been widely used in the treatment of FCD. However, evidence to suggest their specific effect on the treatment of FCD remains to be established. In view of this resistance, several alternative treatments have been suggested. Although treatment currently involves surgical management, non-invasive treatments have been identified. The aim of the present review, was to assess non-invasive management strategies including, i) mammalian target of rapamycin (mTOR) inhibitors, ii) ketogenic diet (KD), and iii) vagus nerve stimulation (VNS). In addition, we discussed the literature available regarding the use of AEDs in FCD. Experiments conducted with mammals detailing rapamycin gene mutations in FCD have produced vital information for exploring treatment options using mTOR inhibitors. Of note is the importance of KD in children with FCD. This diet has been shown to modify disease progression by attenuating chromatin modification, a master regulator for gene expression and functional adaptation of the cell. FCD has also been studied widely with neurostimulation techniques. The outcomes of these techniques have been found to be variable. For widespread dysplasias, VNS has been shown to produce responder rates of >50%. Nevertheless, non-invasive cranial nerve stimulation techniques such as transcutaneous VNS and non-invasive VNS are gaining better patient compatibility, albeit their efficacy remains to be established. PMID:27168769

  13. Automated measurement of diagnostic angles for hip dysplasia

    NASA Astrophysics Data System (ADS)

    de Raedt, Sepp; Mechlenburg, Inger; Stilling, Maiken; Rømer, Lone; Søballe, Kjeld; de Bruijne, Marleen

    2013-03-01

    A fully automatic method for measuring diagnostic angles of hip dysplasia is presented. The method consists of the automatic segmentation of CT images and detection of anatomical landmarks on the femur and acetabulum. The standard angles used in the diagnosis of hip dysplasia are subsequently automatically calculated. Previous work in automating the measuring of angles required the manual segmentation or delineation of the articular joint surface. In the current work automatic segmentation is established using graph-cuts with a cost function based on a sheetness score to detect the sheet-like structure of the bone. Anatomical landmarks are subsequently detected using heuristics based on ray-tracing and the distance to the approximated acetabulur joint surface. Standard diagnositic angles are finally calculated and presented for interpretation. Experiments using 26 patients, showed a good agreement with gold standard manual measurements by an expert radiologist as performed in daily practice. The mean difference for the five angles was between -1:1 and 2:0 degrees with a concordance correlation coefficient between 0:87 and 0:93. The standard deviation varied between 2:3 and 4:1 degrees. These values correspond to values found in evaluating interobserver and intraobserver variation for manual measurements. The method can be used in clinical practice to replace the current manual measurements performed by radiologists. In the future, the method will be integrated into an intraoperative surgical guidance system.

  14. Smoking Is Not Associated with Severe Dysplasia or Invasive Carcinoma in Resected Intraductal Papillary Mucinous Neoplasms

    PubMed Central

    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.

    2015-01-01

    Introduction 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. Methods 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. Results 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<0.001). Presence of mural nodules (OR=3.34, 95 %CI=1.82–6.12, p<0.001), duct size (OR=3.87, 95 %CI=2.21–6.75, p<0.001), and symptoms (OR=7.10, 95 %CI=3.80–13.08, p<0.001), but not 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). Conclusion 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. PMID:25477314

  15. Central retinal artery occlusion in association with fibromuscular dysplasia

    PubMed Central

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

    2013-01-01

    A 14 year-old female, whose chief complaint was severe vision loss in the right eye for 2 days, presented to the Clinic of Ophthalmology of Fatih Sultan Mehmet Education and Research Hospital. The patient had been attending follow-up visits for 4 years, following a diagnosis of fibromuscular dysplasia by the Clinic of Pediatrics. The patient underwent a complete ophthalmo-logic, angiographic, hematologic, and systemic evaluation. Fundus fluorescein angiography was performed immediately, because of the cherry-red spot sign in the macula of the right eye. Fundus fluorescein angiography revealed evidence of marked stasis of the retinal arterial circulation in the right eye. Best corrected visual acuity was 20/400 in the right eye and 20/20 in the left eye. PMID:24293990

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

    PubMed

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

    2013-01-01

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

  17. Ventilatory control in infants, children, and adults with bronchopulmonary dysplasia.

    PubMed

    Bates, Melissa L; Pillers, De-Ann M; Palta, Mari; Farrell, Emily T; Eldridge, Marlowe W

    2013-11-01

    Bronchopulmonary dysplasia (BPD), or chronic lung disease of prematurity, occurs in ~30% of preterm infants (15,000 per year) and is associated with a clinical history of mechanical ventilation and/or high inspired oxygen at birth. Here, we describe changes in ventilatory control that exist in patients with BPD, including alterations in chemoreceptor function, respiratory muscle function, and suprapontine control. Because dysfunction in ventilatory control frequently revealed when O2 supply and CO2 elimination are challenged, we provide this information in the context of four important metabolic stressors: stresses: exercise, sleep, hypoxia, and lung disease, with a primary focus on studies of human infants, children, and adults. As a secondary goal, we also identify three key areas of future research and describe the benefits and challenges of longitudinal human studies using well-defined patient cohorts.

  18. The radiological research for pelvis asymmetry of unilateral developmental dysplasia of the hip in adult

    PubMed Central

    Li, Ya-Min; Li, Jue-Hong; Li, Bin; Wang, Jia-Xing; Chen, Yun-Su

    2016-01-01

    Objectives To investigate whether adult patients with unilateral developmental dysplasia of the hip (UDDH) have pelvic asymmetry and what correlation existing between them. Methods A total of 100 adult patients with UDDH were enrolled in the retrospective observational study in Shanghai Jiaotong University Affiliated Sixth People’s Hospital, Shanghai, China, between January 2012 and February 2014. The anteroposterior pelvic radiographs were reviewed and the pelvic heights and ischium heights were measured and compared between the affected and non-affected sides to find out the relationship between the pelvic morphology and hip dysplasia. Results The pelvic heights demonstrated significant differences between the non-affected side and the affected side in patients with Crowe type II-IV UDDH (p<0.05), but not in patients with Crowe type I UDDH (p=0.09). There were significant differences in the bilateral ischium heights in patients with Crowe type III and IV UDDH (p<0.05), but not in patients with Crowe type I and II UDDH (p=0.78, p=0.055). In addition, the degree of hip dysplasia was positively associated with the degrees of asymmetry of pelvis (r=0.78, p<0.001) and ischium (r=0.72, p<0.001) in UDDH patients. Conclusion The pelvic asymmetry exists in adult patients with UDDH. In addition, the degree of asymmetry has correlation with the degree of hip dysplasia. We recommend that it should be taken more cautions to use teardrops and ischial tuberosity as anatomy landmarks to balance leg-length discrepancy for unilateral DDH patients in preoperative planning and total hip arthroplasty. PMID:27874150

  19. Implants in children with ectodermal dysplasia: a case report and literature review.

    PubMed

    Kramer, Franz-Josef; Baethge, Carola; Tschernitschek, Harald

    2007-02-01

    The replacement of teeth by implants is usually restricted to patients with completed craniofacial growth. Implant insertions in children or adolescents are circumvented due to several unfavorable potential effects including trauma to tooth germs, tooth eruption disorders and multidimensional restrictions of skeletal craniofacial growth. Moreover, the functional and esthetic results of the oral rehabilitation are only temporary acceptable. However, to a small number of pediatric patients suffering congenitally from severe hypodontia caused by syndromes such as ectodermal dysplasia, conventional prosthodontic rehabilitations are insufficient. We report the case of a boy with ectodermal dysplasia who exhibited a severe hypodontia and who was treated with implants inserted into the anterior mandible at the age of 8 years. The implants were functionally loaded and resulted in a high patient satisfaction. We recommend the early insertion of dental implants in children with severe hypodontia. Reviewing the current literature, several aspects of syndromic hypodontia, patient selection and implant planning are discussed.

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

    PubMed

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

    2015-04-01

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

  1. Atypical parakeratosis: a marker of dysplasia?

    PubMed

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

    1996-11-01

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

  2. Laryngeal Dysplasia, Squamous Cell Carcinoma, and Variants.

    PubMed

    Thompson, Lester D R

    2017-03-01

    Squamous cell carcinoma (SCC) is a malignant epithelial tumor showing evidence of squamous differentiation. It is the most common malignancy of the larynx, with several variants (verrucous, exophytic or papillary, spindle-cell, basaloid, acantholytic, adenosquamous) recognized, with well-established precursor lesions. Dysplasia is now separated into only low-grade and high-grade categories. Each SCC variant has unique cytomorphologic features and histologic differential diagnoses that are important to consider, as management and outcomes are different.

  3. [Thanatophoric dysplasia: case-based bioethical analysis].

    PubMed

    Abarca, Edgar; Rodríguez, Alejandra; Casas, Donovan; Espíndola, Esteban

    2014-04-29

    This paper presents a case report of thanatophoric dysplasia diagnosed in the prenatal period using ultrasound standards. The course of the case pregnancy, birth process, and postnatal period is described. This report invites bioethical analysis using its principles, appealing to human dignity, diversity and otherness, particularly in the mother-child dyad and their family. An early diagnosis allows parental support as they face the course of this condition and its potentially fatal outcome.

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

    PubMed Central

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

    2016-01-01

    Background: Various clinical and histological factors have helped in predicting the survival of patients with oral squamous cell carcinoma (OSCC). However, there has been a need for more specialized diagnostic and prognostic factors to avoid subjective variation among opinion. Thus, fractal dimension (FD) can be used as an index of the morphological changes that the epithelial cells undergo during their transformation into neoplastic cell. In oral cancer study, nuclear FD (NFD) can be used as a quantitative index to discriminate between normal, dysplastic and neoplastic oral mucosa. Aim: To use nuclear fractal geometry to compare the morphometric complexity in the normal, epithelial dysplasia and OSCC cases and to verify the difference among the various histological grades of dysplasia and OSCC. It was fulfilled by estimating the FDs of the nuclear surface. Materials and Methods: Histopathologically diagnosed cases of epithelial dysplasia and OSCC were taken from the archives. Photomicrographs were captured with the help of Lawrence and Mayo research microscope. The images were then subjected to image analysis using the Image J software with FracLac plugin java 1.6 to obtain FDs. FD of ten selected nuclei was calculated using the box-counting algorithm. Statistical Analysis: was done using descriptive analysis, ANOVA and Tukey's honest significant difference post hoc tests with STATAIC-13 software. Results and Conclusion: NFD can provide valuable information to discriminate between normal mucosa, dysplasia and carcinoma objectively without subjective discrimination. PMID:27721604

  5. Monostotic fibrous dysplasia of the lumbar spine.

    PubMed

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

    2000-01-01

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

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

    PubMed

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

    1977-06-24

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

  7. Application of Reverse Engineering Template for the Correction of Asymmetric Deformity of Maxillofacial Fibrous Dysplasia.

    PubMed

    Pan, Jianwei; Ye, Bin; Hu, Jing; Li, Xiang; Zhang, Yiqun; Li, Jihua

    2016-03-01

    Facial asymmetry deformity is the most common symptom of patients with fibrous dysplasia. This study provides a novel method based on computed tomography scan data, mirror-imaged reverse engineering and rapid prototyping for design and manufacture of an individual template guiding accurately the extent and quantity of partial resection of hyperplastic tissues to reshape the affected bones during operation. Ten adult patients with unilateral facial fibrous dysplasia accepted these treatments, the postoperative appearances showed that the protrusions were effectively reduced; bilateral faces were basically symmetric with no serious complications. This method shorts operation time, decreases surgical risk, and guarantees the aesthetic symmetry. Apparent recurrence was not observed during the follow-up period, and the final outcomes were satisfactory for both surgeons and patients.

  8. Metaphyseal chondrodysplasia with ectodermal dysplasia

    SciTech Connect

    Jequier, S.; Bellini, F.; Mackenzie, D.A.

    1981-11-01

    The first case of metaphyseal chondrodysplasia with marked cupping of the metaphyses and cone epiphyses combined with complete alopecia was described in 1966 by Bellini. A second identical case was found in another Italian patient. Both show extremely early epiphyseal fusion. This is probably a new form of metaphyseal chondrodysplasia.

  9. Fibrocartilaginous Dysplasia of the Bone: A Rare Variant of Fibrous Dysplasia.

    PubMed

    Vaishya, Raju; Agarwal, Amit Kumar; Gupta, Nishint; Vijay, Vipul

    2016-01-05

    Fibrocartilaginous dysplasia (FCD) is a rare variant of fibrous dysplasia (FD) which frequently involves the long bones, and the proximal femur is the most commonly affected site. This benign, lytic, and expansile bone lesion causes progressive deformity in the bones and may lead to pathological fracture. Radiologically, this lesion may mimic cartilaginous benign and malignant bone tumors. Therefore, histopathological differentiation of FCD from other cartilaginous tumors is of the utmost importance. The treatment is often surgical, in the form of curettage and bone grafting or corrective osteotomy, to treat progressive deformity in the long bones. The risk of pathological fracture is high in FCD with bony deformity and often requires surgery.

  10. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

    PubMed

    Jansen, Laura A; Mirzaa, Ghayda M; Ishak, Gisele E; O'Roak, Brian J; Hiatt, Joseph B; Roden, William H; Gunter, Sonya A; Christian, Susan L; Collins, Sarah; Adams, Carissa; Rivière, Jean-Baptiste; St-Onge, Judith; Ojemann, Jeffrey G; Shendure, Jay; Hevner, Robert F; Dobyns, William B

    2015-06-01

    Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable paediatric epilepsy. In this study we performed multiplex targeted sequencing of 10 genes in the PI3K/AKT pathway on brain tissue from 33 children who underwent surgical resection of dysplastic cortex for the treatment of intractable epilepsy. Sequencing results were correlated with clinical, imaging, pathological and immunohistological phenotypes. We identified mosaic activating mutations in PIK3CA and AKT3 in this cohort, including cancer-associated hotspot PIK3CA mutations in dysplastic megalencephaly, hemimegalencephaly, and focal cortical dysplasia type IIa. In addition, a germline PTEN mutation was identified in a male with hemimegalencephaly but no peripheral manifestations of the PTEN hamartoma tumour syndrome. A spectrum of clinical, imaging and pathological abnormalities was found in this cohort. While patients with more severe brain imaging abnormalities and systemic manifestations were more likely to have detected mutations, routine histopathological studies did not predict mutation status. In addition, elevated levels of phosphorylated S6 ribosomal protein were identified in both neurons and astrocytes of all hemimegalencephaly and focal cortical dysplasia type II specimens, regardless of the presence or absence of detected PI3K/AKT pathway mutations. In contrast, expression patterns of the T308 and S473 phosphorylated forms of AKT and in vitro AKT kinase activities discriminated between mutation-positive dysplasia cortex, mutation-negative dysplasia cortex, and non-dysplasia epilepsy cortex. Our findings identify PI3K/AKT pathway mutations as an important cause of epileptogenic brain malformations and establish megalencephaly, hemimegalencephaly, and focal cortical dysplasia as part of a single pathogenic spectrum.

  11. Dysplasia Epiphysealis Hemimelica Treated with Osteochondral Allograft: A Case Report

    PubMed Central

    Anthony, Chris A.; Wolf, Brian R.

    2015-01-01

    Background Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a developmental disorder of the pediatric skeleton characterized by asymmetric osteochondral overgrowth. Methods We present the case of a five year old boy with a two year history of right knee pain and evidence of DEH on imaging who underwent initial arthroscopic resection of his lesion with subsequent recurrence. The patient then underwent osteochondral allograft revision surgery and was asymptomatic at two year follow-up with a congruent joint surface. Results To our knowledge, this is the first reported case of a DEH lesion treated with osteochondral allograft and also the youngest reported case of osteochondral allograft placement in the literature. Conclusions Osteochondral allograft may be a viable option in DEH and other deformities of the pediatric knee. Level of Evidence Level V PMID:26361443

  12. Range of Hip Joint Motion in Developmental Dysplasia of the Hip Patients Following Total Hip Arthroplasty With the Surgical Technique Using the Concept of Combined Anteversion: A Study of Crowe I and II Patients.

    PubMed

    Zhang, Jingwei; Wei, Jianhe; Mao, Yuanqing; Li, Huiwu; Xie, Youzhuan; Zhu, Zhenan

    2015-12-01

    The combined anteversion surgical technique has been proposed and used in clinical practice. To more objectively evaluate the feasibility of this surgical technique using combined anteversion concept for DDH patients, we studied 34 DDH patients (40 hips) in this research. Every patient underwent pelvic CT scans before and after surgery and the HHSs were recorded. Optimal range of joint motion was measured using a three-dimensional reconstruction technique and a dynamic measurement technique. The results revealed that joint function met the requirements of daily life and the range of motion was not over-limited by impingement between the prosthesis and the skeleton. Moreover, the combined anteversion was found to be the most critical parameter in this study.

  13. Compensation for vertical dysplasia and its clinical application.

    PubMed

    Anwar, Nabila; Fida, Mubassar

    2009-10-01

    The purpose of this study was to quantitatively evaluate skeletal and dental compensation in patients with vertical skeletal dysplasias and to determine which dentoalveolar parameters compensate for vertical jaw discrepancies. Cephalometric analyses were performed on pre-treatment lateral cephalographs of 186 orthodontic patients (120 females and 66 males; mean age 15 years 11 months) who met the selection criteria. SN-MP angle was used to classify the facial patterns as: hyperdivergent > 36 degrees, normo = 28-36 degrees, and hypo < 28 degrees. Analysis of variance (ANOVA) was used to determine statistical differences between the means in the three vertical facial types. To evaluate dental compensation quantitatively, correlation analyses were performed to find associations between skeletal and dental parameters. To further elucidate the compensatory nature of the lower incisors, regression analyses and scattergrams were obtained, with SN-MP as a measure of the vertical skeletal discrepancy. ANOVA showed statistically significant differences for most of the skeletal variables, but only for lower incisor height and inclination among the dentoalveolar parameters. Correlation analyses demonstrated significant relationships between various skeletal variables. LI-MP showed a negative relationship with SN-MP, whereas LAMdH demonstrated a positive linear relationship with SN-MP. Among all dentoalveolar heights, UAMxH showed the weakest, and LAMdH the strongest, associations with skeletal parameters. The variability in dentoalveolar compensation therefore demands individualized diagnosis and treatment planning. LAMdH and LI-MP parameters were the most likely, whereas UAMxH was the least likely parameter to compensate for vertical dysplasia.

  14. Late-presenting developmental dysplasia of the hip in Jordanian males

    PubMed Central

    Samarah, Omar Q.; Hadidi, Fadi A. Al; Hamdan, Mohammad Q.; Hantouly, Ashraf T.

    2016-01-01

    Objectives: To describe the pattern of developmental dysplasia of the hip (DDH) in late presenting Jordanian male patients and identify the risk factors and associated findings. Methods: This is a retrospective study of 1145 male patients who attended the Pediatric Orthopedic Clinic for a DDH check up. This study was carried out in the Orthopedic Section, Special Surgery Department, Faculty of Medicine, The University of Jordan, Amman, Jordan between March 2011 and October 2014. Data was collected from medical records, and x-ray measurements were evaluated. Results: Of the 1145 male patients, 43 (3.75%) with 70 involved hips were diagnosed with late- presenting DDH. Being a first-born baby resulted in 41.9% increased risk for DDH. Cesarian delivery was significantly associated with an increased risk of hip dislocation (p=0.004) while normal delivery was significantly associated with acetabular dysplasia (p=0.004). No predictable risk factors were found in 44.2% patients with DDH. Bilateral cases were more common than unilateral cases: (26 [60.5%] versus 17 [39.5%]). Limited abduction was a constant finding in all dislocated hips (p<0.001). Associated conditions, such as club foot and congenital muscular torticollis were not observed. Conclusion: Cesarian section is a significant risk for dislocated hips while normal delivery is significantly associated with acetabular dysplasia. Bilateral DDH is more common than the unilateral. Club foot and torticollis were not observed in this series. PMID:26837397

  15. Postural correction reduces hip pain in adult with acetabular dysplasia: a case report

    PubMed Central

    Lewis, Cara L.; Khuu, Anne; Marinko, Lee

    2015-01-01

    Developmental dysplasia of the hip is often diagnosed in infancy, but less severe cases of acetabular dysplasia are being detected in young active adults. The purpose of this case report is to present a non-surgical intervention for a 31-year-old female with mild acetabular dysplasia and an anterior acetabular labral tear. The patient presented with right anterior hip and groin pain, and she stood with the trunk swayed posterior to the pelvis (swayback posture). The hip pain was reproduced with the anterior impingement test. During gait, the patient maintained the swayback posture and reported 6/10 hip pain. Following correction of the patient’s posture, the patient’s pain rating was reduced to a 2/10 while walking. The patient was instructed to maintain the improved posture. At the 1 year follow-up, she demonstrated significantly improved posture in standing and walking. She had returned to recreational running and was generally pain-free. The patient demonstrated improvement on self-reported questionnaires for pain, function and activity. These findings suggest that alteration of posture can have an immediate and lasting effect on hip pain in persons with structural abnormality and labral pathology. PMID:25731688

  16. A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias.

    PubMed

    Moretti, Francesca; Marinari, Barbara; Lo Iacono, Nadia; Botti, Elisabetta; Giunta, Alessandro; Spallone, Giulia; Garaffo, Giulia; Vernersson-Lindahl, Emma; Merlo, Giorgio; Mills, Alea A; Ballarò, Costanza; Alemà, Stefano; Chimenti, Sergio; Guerrini, Luisa; Costanzo, Antonio

    2010-05-01

    The human congenital syndromes ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome, ankyloblepharon ectodermal dysplasia clefting, and split-hand/foot malformation are all characterized by ectodermal dysplasia, limb malformations, and cleft lip/palate. These phenotypic features are a result of an imbalance between the proliferation and differentiation of precursor cells during development of ectoderm-derived structures. Mutations in the p63 and interferon regulatory factor 6 (IRF6) genes have been found in human patients with these syndromes, consistent with phenotypes. Here, we used human and mouse primary keratinocytes and mouse models to investigate the role of p63 and IRF6 in proliferation and differentiation. We report that the DeltaNp63 isoform of p63 activated transcription of IRF6, and this, in turn, induced proteasome-mediated DeltaNp63 degradation. This feedback regulatory loop allowed keratinocytes to exit the cell cycle, thereby limiting their ability to proliferate. Importantly, mutations in either p63 or IRF6 resulted in disruption of this regulatory loop: p63 mutations causing ectodermal dysplasias were unable to activate IRF6 transcription, and mice with mutated or null p63 showed reduced Irf6 expression in their palate and ectoderm. These results identify what we believe to be a novel mechanism that regulates the proliferation-differentiation balance of keratinocytes essential for palate fusion and skin differentiation and links the pathogenesis of 2 genetically different groups of ectodermal dysplasia syndromes into a common molecular pathway.

  17. Toll-like receptors 1, 2, 4 and 6 in esophageal epithelium, Barrett's esophagus, dysplasia and adenocarcinoma

    PubMed Central

    Lehenkari, Petri P.; Saarnio, Juha; Karttunen, Tuomo J.; Kauppila, Joonas H.

    2016-01-01

    Background Toll-like receptors (TLRs) recognize microbial and endogenous ligands and have already shown to play a role in esophageal cancer. In this study, we evaluated especially TLRs that sense bacterial cell wall components in Barrett's esophagus, dysplasia and esophageal adenocarcinoma. Methods TLRs 1, 2, 4 and 6 were stained immunohistochemically and assessed in esophageal specimens from patients with esophageal dysplasia (n = 30) or adenocarcinoma (n = 99). Structures and lesions were evaluated including normal esophagus (n = 88), gastric (n = 67) or intestinal metaplasia (n = 51) without dysplasia, and low-grade (n = 42) or high-grade dysplasia (n = 37), and esophageal adenocarcinoma (n = 99). Results We found TLR1, TLR2, TLR4 and TLR6 expression in all lesions. TLR expression increased in Barrett's mucosa and dysplasia. There was profound increase of TLR expression from gastric- to intestinal-type columnar epithelium. In cancers, high nuclear and cytoplasmic staining of TLR4 associated with metastatic disease and poor prognosis. Conclusions TLR1, TLR2, TLR4 and TLR6 are upregulated during malignant changes of esophageal columnar epithelium. Increased TLR4 expression associates with advanced stage and poor prognosis in esophageal adenocarcinoma. PMID:27008696

  18. A critical appraisal of the morphological criteria for diagnosing intestinal neuronal dysplasia type B.

    PubMed

    Terra, Simone A; de Arruda Lourenção, Pedro L; G Silva, Márcia; A Miot, Hélio; Rodrigues, Maria A M

    2017-03-17

    Intestinal neuronal dysplasia type B is a controversial entity expressed by complex changes in the enteric nervous system. Diagnosis depends on rectal biopsy histopathology and diagnostic criteria, both qualitative and quantitative, have changed over time, hindering the diagnostic practice. We analyzed the morphological criteria for the histological diagnosis of intestinal neuronal dysplasia type B in a series of patients with intestinal neuronal dysplasia type B according to the 1990 Frankfurt Consensus criteria and verified the applicability of the numerical criteria proposed by Meier-Ruge et al in 2004 and 2006. Qualitative criteria adopted for the histological diagnosis of intestinal neuronal dysplasia type B included hyperplasia of the submucous plexus with hyperganglionosis and hypertrophy of the nerve trunks. Quantitative criteria considered more than 20% giant ganglia in the submucosa, with more than eight neurons each on 25 ganglia, and children aged over 1 year. Distal colon surgical specimens from 29 patients, aged 0-16 years, diagnosed with intestinal neuronal dysplasia type B were retrospectively analyzed using sections processed for conventional histology (H&E) and calretinin immunohistochemistry. Hyperplasia of the submucosal nerve plexi with hyperganglionosis and hypertrophy of the nerve trunks was observed in all cases. Ganglia with small, immature neurons were detected in the majority of cases. Quantitative analysis confirmed hyperganglionosis (mean number=10.7 neurons per ganglion) and hypertrophy of the nerve trunks (median=44.6 μm thickness). Neurons showed immunostaining for calretinin, but neuron counts in calretinin-stained sections were lower compared with H&E (P<0.01). No significant differences were verified between children aged under and over 1 year regarding hyperganglionosis (P=0.79), neuron counts (P=0.36), and immature ganglia (P=0.66). Only one patient met the numerical criteria proposed by Meier-Ruge et al in 2004 and 2006. In

  19. The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations.

    PubMed

    Richieri-Costa, Antonio; Guion-Almeida, Maria Leine

    2004-01-01

    We report ten sporadic cases of Brazilian patients with facial midline defects, callosal agenesis, basal encephalocele, and ocular anomalies. This very rare cluster of anomalies has been well reported before. However, only until recently it is recognized as a syndrome belonging to frontonasal dysplasia spectrum. The ten cases confirm a distinct clinical entity and help to define the phenotype more precisely than previously. Up to now etiology remains unknown, although we conjecture that it is due to a mutation in TGIF gene.

  20. Renal Artery Stenosis in a Young Female without Fibromuscular Dysplasia with Literature Review

    PubMed Central

    Peralta, Paloma; Cholankeril, Matthew; Goldberg, Daniel; Koneru, Jayanth; Shamoon, Fayez

    2016-01-01

    Renal artery stenosis (RAS) is rare in young patients without fibromuscular dysplasia (FMD). RAS is primarily classified as having two major etiologies, namely, atherosclerosis and FMD, with 90% and 10%, respectively. We report a case of a female in her mid 20s who developed hypertension due to RAS with no evidence of FMD or underlying renal dysfunction and underwent successful angioplasty and stenting. PMID:27398034

  1. Redefining Langerhans Cell Histiocytosis as a Myeloid Dysplasia and Identifying B | Division of Cancer Prevention

    Cancer.gov

    DESCRIPTION (provided by applicant): Redefining Langerhans Cell Histiocytosis as a Myeloid Dysplasia and Identifying Biomarkers for Early Detection and Risk Assessment. This application addresses Program Announcement PA-09-197: Biomarkers for Early Detection of Hematopoietic Malignancies (R01). The overall aim of this project is to identify novel biomarkers that may be used to diagnose and treat patients with Langerhans Cell Histiocytosis (LCH). LCH occurs with similar frequency as other rare malignancies including Hodgkin's lymphoma and AML. |

  2. Case report: nonarrhythmogenic right ventricular dysplasia presenting with severe right ventricular failure in an adolescent.

    PubMed

    Pac, Mustafa; Pac, Aysenur; Polat, Tugcin Bora; Balli, Sevket; Turhan, Nesrin; Aras, Dursun; Oflaz, Mehmet Burhan; Kücüker, Seref

    2010-02-01

    Right ventricular dysplasia is usually discovered by the presence of ventricular arrhythmia. As arrhythmia is an epiphenomenon, the first presentation of some cases can be primarily heart failure. We describe an adolescent girl who presented with progressive right heart failure and whose hallmark was fibrofatty replacement of ventricular muscle, especially of the right side, without ventricular arrhythmia. The patient was successfully treated by orthotopic heart transplantation.

  3. Partial Renal Embolization for Pediatric Renovascular Hypertension Secondary to Fibromuscular Dysplasia

    SciTech Connect

    Ishijima, Hideyuki; Ishizaka, Hiroshi; Sakurai, Minako; Ito, Kazuto; Endo, Keigo

    1997-09-15

    We report a 7-year-old boy with renovascular hypertension showing multiple stenoses and microaneurysms of the dorsal branch of the left renal artery caused by fibromuscular dysplasia. Hypertension was successfully treated with transcatheter alcohol and gelatin sponge embolization of the dorsal branch and its distribution. The vertebral branch remained intact. No severe complication was encountered. Loss of renal function by renal scintigraphy was minimal. The patient remains asymptomatic at 1 year.

  4. Endoscopic Shelf Acetabuloplasty Combined With Labral Repair, Cam Osteochondroplasty, and Capsular Plication for Treating Developmental Hip Dysplasia

    PubMed Central

    Uchida, Soshi; Wada, Takahiko; Sakoda, Shinsuke; Ariumi, Akihiro; Sakai, Akinori; Iida, Hirokazu; Nakamura, Toshitaka

    2014-01-01

    In addition to the underlying shallow acetabular deformity, a patient with hip dysplasia has a greater risk of development of a labral tear, a cam lesion, and capsular laxity. This combination of abnormalities exacerbates joint instability, ultimately leading to osteoarthritis. Unsurprisingly, only repairing the acetabular labrum remains controversial, and the outcome is unpredictable. In this technical note, with video, we demonstrate an entirely endoscopic approach for simultaneously repairing the most common mechanical abnormalities found in moderate hip dysplasia: labral repair, cam osteochondroplasty, capsular plication, and shelf acetabuloplasty using an autologous iliac bone graft. PMID:24749043

  5. Oxygen Saturation Targeting and Bronchopulmonary Dysplasia.

    PubMed

    Darlow, Brian A; Morley, Colin J

    2015-12-01

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

  6. [Dysplasia in the development of the hip].

    PubMed

    Moraleda, L; Albiñana, J; Salcedo, M; Gonzalez-Moran, G

    2013-01-01

    Developmental dysplasia of the hip (DDH) causes anatomical changes that cause early coxarthrosis. Although risf factors have been determined, the aetiology and physiopathology remains exactly unknown. Neonatal screening with physical examination and ultrasound have been stablished in order to diagnose this disease early in life. A diagnosis in the first months of life is essential as it enables a normal hip to form and prevent the appearance of early coxarthrosis. Treatment principles are to be able to reduce the hip without provoking avascular necrosis of the femoral head, and to normalize the acetabular development. Knowledge of the orthopaedic and surgical options is essential in order to achieve success in the treatment.

  7. Chondroblastoma of the acromion mimicking fibrous dysplasia.

    PubMed

    Gebert, Carsten; Hardes, Jendrik; Streitbürger, Arne; Vieth, Volker; Bürger, Horst; Winkelmann, Winfried; Gosheger, Georg

    2004-12-01

    The authors report the case of a 65-year-old man who presented with an expansive osteolytic lesion in the right acromion, mimicking cystic fibrous dysplasia. Magnetic resonance imaging showed a lesion with intermediate-signal intensity on T1-weighted images and a high-signal intensity on fat suppressed T2-weighted images. The biopsy led to the diagnosis of chondroblastoma. This tumour is rare in flat bones, and may mimic other benign or malignant lesions. It is therefore essential to perform a biopsy in order to obtain a definite diagnosis. The acromion was excised, and replaced with an iliac crest graft.

  8. Abnormal Development of the Femoral Head Epiphysis in an Infant with no Developmental Dysplasia of the Hip Apparent on Ultrasonography

    PubMed Central

    Atalar, Hakan; Gunay, Cuneyd; Aytekin, Mahmut Nedim

    2014-01-01

    Introduction: In the investigation of hip development in newborns and infants, ultrasonography and radiography are widely used, but their optimal roles in this setting remain controversial. Case Report: Here we describe an 8.5-month-old infant who had undergone hip radiography at a primary care facility and was referred to our hospital to be evaluated for developmental dysplasia of the hip. Ultrasonography showed no developmental dysplasia of the hip according to standard criteria, but developmental retardation of the femoral head was apparent on the radiograph. Conclusion: This patient's findings demonstrate that abnormalities in femoral head epiphysis development can go undetected during routine ultrasonographic evaluations for developmental dysplasia of the hip. PMID:27298982

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

    PubMed

    Fendel, H

    1976-07-01

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

  10. Florid cemento-osseous dysplasia: A rare case report evaluated with cone-beam computed tomography

    PubMed Central

    Yildirim, Eren; Bağlar, Serdar; Ciftci, Mehmet Ertugrul; Ozcan, Erdal

    2016-01-01

    A 29-year-old systemically healthy female patient presented to our department. Cone-beam computed tomographic images showed multiple well-defined sclerotic masses with radiolucent border in both right and left molar regions of the mandible. These sclerotic masses were surrounded by a thin radiolucent border. We diagnosed the present pathology as florid cemento-osseous dysplasia and decided to follow the patient without taking biopsy. For the patient, who did not have any clinical complaints, radiographic followupis recommended twice a year. The responsibility of the dentist is to ensure the follow-up of the diagnosed patients and take necessary measures for preventing the infections. PMID:27601835

  11. Changes in esophageal motility after porfimer sodium photodynamic therapy for Barrett's dysplasia and mucosal carcinoma.

    PubMed

    Shah, A K; Wolfsen, H C; Hemminger, L L; Shah, A A; DeVault, K R

    2006-01-01

    Esophageal dysmotility is common in patients with Barrett's esophagus. Previously we have reported deterioration of esophageal motility after photodynamic therapy (PDT) in a heterogeneous group of patients with esophageal carcinoma. This prospective study in consecutive patients describes changes in motility noted after endoscopic ablation. Forty-seven patients referred to our institution for endoscopic ablation for Barrett's high grade dysplasia or mucosal carcinoma between August 2001 and May 2003 were prospectively evaluated with esophageal manometry before and after porfimer sodium PDT. Six patients did not complete the study. Manometry results were classified as normal, diffuse esophageal spasm, ineffective esophageal motility, or aperistalsis. Abnormal esophageal motility was found in 14 of 47 (30%) patients at study entry ([diffuse esophageal spasm] DES-3, [ineffective esophageal motility] IEM-7, Aperistalsis-4). After PDT, 11 of 41 patients with paired studies experienced a change in manometric diagnosis. Three patients had an improvement in motility, seven a worsening and one changed diagnosis, but did not particularly worsen or improve. No patient developed new aperistalsis. Therefore, abnormal motility was present in 19 of 41 (46%) patients after PDT (DES-2, IEM-14, Aperistalsis-3). There was a statistically significant (P = 0.016) relationship with longer segment Barrett's esophagus and deterioration of function. Baseline abnormalities in motility can occur in patients with Barrett's high-grade dysplasia or mucosal carcinoma. Changes in esophageal function also may occur following photodynamic therapy, but usually are not clinically significant. Worsening in function was more likely to occur in patients with longer segment Barrett's esophagus.

  12. Reconstruction of skull base defects in sphenoid wing dysplasia associated with neurofibromatosis I with titanium mesh.

    PubMed

    Lotfy, Mohamed; Xu, Risheng; McGirt, Matthew; Sakr, Sameh; Ayoub, Basim; Bydon, Ali

    2010-12-01

    Sphenoid wing dysplasia occurs in 3-7% of patients with neurofibromatosis type 1 (NF1). The typical radiological features are partial or complete absence of the greater wing of the sphenoid. This condition is slowly progressive and may result in temporal lobe herniation into the orbital cavity, producing pulsating exophthalmos and gross facial deformity. Thus, reconstruction of the orbit is important for both cosmetic and functional reasons. Traditional surgical treatment of sphenoid dysplasia involves split bone grafting and repair of the anterior skull base defect. However, several reports have demonstrated complications of graft resorption and recurrence of proptosis and pulsating exopthalmos. In this case series, we present two patients suffering from pulsating exophthalmos due to sphenoid dysplasia. Radiological and MRI studies demonstrated orbital enlargement and complete absence of the greater wing of the sphenoid. Surgical management of these patients involved dural defect repair, and the use of titanium mesh in conjunction with bone graft to act as a barrier between the orbit and the middle cranial fossa. The mesh was fixed by fine screws. Proptosis improved markedly post-operatively and resolved within a few weeks. Ocular pulsation subsided and remained quiescent with at least 1-year follow-up.

  13. Evaluation of Microbial Enzymes in Normal and Abnormal Cervicovaginal Fluids of Cervical Dysplasia: A Case Control Study

    PubMed Central

    Dasari, Subramanyam; Rajendra, Wudayagiri; Valluru, Lokanatha

    2014-01-01

    The aim of the present study was to evaluate the role of microbial enzymes in normal and abnormal cervicovaginal fluids of cervical dysplasia. The cervicovaginal infections were evaluated through the estimation of microbial enzymes in patients with and without abnormal cervical cytology like bacterial and fungal infections. The patients were categorized based on infection caused by organism and stages of dysplasia. The pH, Whiff test, and Pap smear tests were conducted for normal and abnormal cervical swabs based on standard protocols. Microbial enzymes include mucinase, sialidases, and proteases of the cervical swabs and are estimated according to standard methods. The results of abnormal cervical cytological smears showed increased pH and the presence of amines with different levels of Pap smear test. Increased levels of microbial enzymes were observed in patients with abnormal cytology than normal cytology. Three microbial enzymes mucinase, sialidase, and protease were significantly (P < 0.01) more elevated in patients with bacterial infections (8.97 ± 0.64, 10.39 ± 0.28, 8.12 ± 0.64) than without dysplasia (2.02 ± 0.8, 1.98 ± 0.3, 1.96 ± 0.8). The results reinforce that the microbial infection seems to be more prone to cervical dysplasia and may act as risk-factor for the development of cervical cancer along with HPV infection. PMID:24967392

  14. Failure of cromolyn sodium to reduce the incidence of bronchopulmonary dysplasia: a pilot study. The Neonatal Cromolyn Study Group.

    PubMed

    Watterberg, K L; Murphy, S

    1993-04-01

    This prospective, randomized, blinded clinical trial was conducted to test whether therapy with cromolyn sodium might decrease the incidence or severity of bronchopulmonary dysplasia when given to newborns with respiratory distress syndrome. Cromolyn (20 mg) or placebo was aerosolized to intubated newborns with respiratory distress syndrome every 6 hours, beginning on the first day of intubation. Patients were stratified by birth weight less than 1000 g and 1000 to 2000 g; primary outcome success was defined as survival to 30 days without oxygen dependence. Of 10 patients enrolled who were less than 1000 g birth weight, there were no treatment successes, preventing outcome analysis. The study was discontinued after 28 patients of 1000 to 2000 g birth weight had been studied, at which time it had been found with 95% confidence, with a power of .80, that cromolyn sodium did not decrease by 50% the incidence of bronchopulmonary dysplasia. Severity of bronchopulmonary dysplasia was also similar, with 4 patients in the treatment group and 3 in the placebo group receiving mechanical ventilation at 30 days. Possible reasons for this study outcome include (1) a delivered dose too small to produce a clinical effect; (2) the start of therapy too late to prevent the onset of inflammation; (3) inadequate effect of cromolyn on polymorphonuclear cells in vivo; or (4) development of bronchopulmonary dysplasia through factors unaffected by the actions of cromolyn.

  15. High-grade Dysplasia and Intramucosal Adenocarcinoma in Barrett’s Esophagus: The Role of Endoscopic Eradication Therapy

    PubMed Central

    Leggett, Cadman L.; Prasad, Ganapathy A.

    2015-01-01

    Purpose of review Endoscopic eradication therapy is considered a safe and effective alternative to esophagectomy for a select patient population with high-grade Barrett’s esophagus and intramucosal adenocarcinoma. This review highlights available eradication techniques (resection and ablation) with emphasis on factors that influence choice of therapy. Recent findings Long-term follow-up of patients treated with endoscopic eradication therapies demonstrate high rates of complete remission of dysplasia and intestinal metaplasia with overall survival comparable to subjects treated surgically. Cohort studies also report that recurrence following successful ablation occurs in a significant proportion of subjects, making careful surveillance an indispensable component following successful endoscopic therapy. Endoscopic eradication therapy is also effective for treatment of recurrent dysplasia and intestinal metaplasia. Ablative therapies may lead to buried metaplasia in a small proportion of subjects. The long-term clinical implications of buried metaplasia are unclear. Summary Patients undergoing endoscopic eradication therapy should be enrolled in a comprehensive surveillance and staging program that offers both resection and ablative techniques. Complete remission of dysplasia and intestinal metaplasia can be achieved in the vast majority of patients undergoing endoscopic therapy. Surveillance should continue after treatment with close monitoring for recurrent dysplasia. PMID:22450896

  16. Association between anemia and bronchopulmonary dysplasia in preterm infants.

    PubMed

    Duan, Jun; Kong, Xiangyong; Li, Qiuping; Hua, Shaodong; Zhang, Sheng; Zhang, Xiaoying; Feng, Zhichun

    2016-03-03

    Anemia is commonly seen in preterm infants. It may reduce the capacity of hemoglobin to transport oxygen throughout the body and may result in tissue and organ dysfunction. This study aimed to investigate the effect of anemia on the development of bronchopulmonary dysplasia (BPD) in preterm infants. 243 infants who were admitted to BaYi Children's Hospital Affiliated to Clinical Medical College in Beijing Military General Hospital with gestational age (GA) less than 32 weeks from February, 2014 to February, 2015 were included in the study. Maternal and infant data were recorded. Multivarariate logistic regression analysis was performed to determine the association between anemia and BPD. Of 243 preterm infants, the incidence of anemia was higher in BPD patients than non-BPD patients (p < 0.001). Mean Hct in BPD patients was lower than non-BPD patients at different time points in 1d, 7d, 14d, and 21d. Controlling for other confounding factors, early anemia was associated with an increased risk of BPD. Number of transfusions is also a significant risk factor for BPD (p = 0.001). Therefore, prevention and treatment of early anemia is necessary and reducing number of transfusions may reduce the incidence of BPD in preterm infants.

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

    PubMed Central

    Reis, Pedro; Mourão, Joana

    2017-01-01

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

  18. Fibrous dysplasia arising from the calcaneus.

    PubMed

    Isefuku, S; Hatori, M; Ehara, S; Hosaka, M; Ito, K; Kokubun, S

    1999-11-01

    A case of an 18-year-old woman with fibrous dysplasia arising in the calcaneus, which is extremely rare, is reported, with the emphasis placed on differential diagnosis from low-grade central osteosarcoma. She had a severe pain in her left ankle after sprain. Plain radiographs showed a radiolucent lesion measuring 6.3 x 2.5 cm with a sclerotic margin in the left calcaneus. CT scans showed a well-defined lytic lesion with disruption of the lateral cortex and an ossification or calcification in its center. On MR imaging, the lesion had isointensities and high intensities on T1 and T2 weighted images, respectively, but its central portions showed lower intensities both on T1 and T2 weighted images. The lesion was enhanced with gadolinium except for the central portions. The specimen obtained by open biopsy consisted of fibrous tissue and foci of irregular woven bone. None of the nuclear atypia, mitoses, longitudinal stream of bone or invasive nature of growth was detected. The diagnosis of fibrous dysplasia was histologically made. The lesion was curetted and packed with autogenous bone chips. No evidence of recurrence was noted postoperatively.

  19. Retrospective observational study comparing the international hip dysplasia institute classification with the Tonnis classification of developmental dysplasia of the hip

    PubMed Central

    Miao, Mingyuan; Cai, Haiqing; Hu, Liwei; Wang, Zhigang

    2017-01-01

    Abstract The Tonnis radiographic classification of developmental dysplasia of the hip (DDH) has been widely used. The International Hip Dysplasia Institute (IHDI) classification, a new classification system recently developed by the IHDI, is beginning to be applied to evaluate DDH with the absence of an ossification center. This study aimed to validate its reliability in evaluating DDH with an ossification center and compared the 2 classifications in evaluating all DDH hips. In addition, the prediction values of the 2 classifications on clinical management selection were compared. In total, the pelvic radiographs of 212 DDH patients (318 hips) between the ages of 6 and 48 months admitted to Shanghai Children's Medical Center between 2007 and 2014 were assessed by 3 observers retrospectively using the 2 classifications. Intraobserver and interobserver agreements were evaluated using the kappa method. We also assessed the correlation of the 2 radiographic classifications in terms of treatment selection. In total, 216 hips received closed reduction, 61 hips received open reduction, and 41 hips received pelvic osteotomy. Both classifications showed excellent intraobserver and interobserver reliability. However, the IHDI demonstrated more interobserver reliability, especially for evaluating DDH without an ossification center. Both classifications were found to be relevant in detecting the DDH treatment type (P < 0.01). The Tonnis classification was also relevant, especially for evaluating DDH with an ossification center. The IHDI classification exhibited good practicability in classifying the radiographic severity of DDH compared to the Tonnis classification, particularly in hips without an ossification center. Like the Tonnis classification, the IHDI classification can predict treatment plans. Therefore, the IHDI classification seems to be the upgraded version of the Tonnis classification. PMID:28099350

  20. [Renal artery stenosis : atheromatous disease and fibromuscular dysplasia].

    PubMed

    Halimi, Jean-Michel

    2009-04-01

    Renal artery stenosis may be due to atheromatous disease or renal fibromuscular dysplasia (FMD). Management of both diseases requires treatment of hypertension usually observed in such patients; however, clinical presentation, mechanism and treatment of these 2 diseases are usually different. Renal FMD is now considered as a systemic disease, the cause of which may be genetic (although the exact cause is still elusive). Renal arteries are the most frequent localizations of FMD, but extra renal arteries may also be involved (usually carotid arteries). Risk factors of hypertension-induced renal FMD include estrogen treatment and smoking. Renal FMD are mostly found in young women and in children who present with recent severe and/or refractory symptomatic hypertension. Diagnosis is usually easy (Doppler, CT-scan), and treatment of renal FMD is angioplasty in most cases. Atheromatous renal artery stenosis is usually found in patients with other atheromatous disease (peripheral artery disease, carotid, coronary artery disease...). Clinical presentation include severe or refractory hypertension, recurrent flash pulmonary edema in a patient with hypertension, progressive renal dysfunction spontaneously or after medical treatment with converting-enzyme inhibition or angiotensin II blockade, hypertension in a patient (usually smoker or ex-smoker) with diffuse atheromatous vascular disease. Management of atheromatous renal artery disease is medical treatment in all patients (aggressive treatment of cardiovascular risk factors, control of arterial pressure); revascularization is required in some patients only since it rarely cures hypertension: the goal of revascularization is mostly renal function protection, which may be observed in selected patients. Revascularization must be decided by physicians or teams involved in the care of such patients. Patients with atheromatous renal artery disease are at very high renal and cardiovascular risk : aggressive management of

  1. Intrauterine Growth Restriction Associated with Hematologic Abnormalities: Probable Manifestations of Placental Mesenchymal Dysplasia

    PubMed Central

    Martinez-Payo, Cristina; Bernabeu, Rocio Alvarez; Villar, Isabel Salas; Goy, Enrique Iglesias

    2015-01-01

    Introduction Placental mesenchymal dysplasia is a rare vascular disease associated with intrauterine growth restriction, fetal demise as well as Beckwith–Wiedemann syndrome. Some neonates present hematologic abnormalities possibly related to consumptive coagulopathy and hemolytic anemia in the placental circulation. Case report We present a case of placental mesenchymal dysplasia in a fetus with intrauterine growth restriction and cerebellar hemorrhagic injury diagnosed in the 20th week of pregnancy. During 26th week, our patient had an intrauterine fetal demise in the context of gestational hypertension. We have detailed the ultrasound findings that made us suspect the presence of hematologic disorders during 20th week. Discussion We believe that the cerebellar hematoma could be the consequence of thrombocytopenia accompanied by anemia. If hemorrhagic damage during fetal life is found, above all associates with an anomalous placental appearance and with intrauterine growth restriction, PMD should be suspected along other etiologies. PMID:26495159

  2. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

    SciTech Connect

    Zabel, B.; Hilbert, K.; Spranger, J.; Winterpacht, A.; Stoeb, H.; Superti-Furga, A.

    1996-05-03

    We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. This condition has been described as spondyloperipheral dysplasia and the few published cases suggest autosomal dominant inheritance with considerable clinical variability. We found our sporadic case to be due to a collagen type II defect resulting from a specific COL2A1 mutation. This mutation is the first to be located at the C-terminal outside the helical domain of COL2A1. A frameshift as consequence of a 5 bp duplication in exon 51 leads to a stop codon. The resulting truncated C-propeptide region seems to affect helix formation and produces changes of chondrocyte morphology, collagen type II fibril structure and cartilage matrix composition. Our case with its distinct phenotype adds another chondrodysplasia to the clinical spectrum of type II collagenopathies. 16 refs., 4 figs.

  3. Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.

    PubMed

    Filesi, Ilaria; Gullotta, Francesca; Lattanzi, Giovanna; D'Apice, Maria Rosaria; Capanni, Cristina; Nardone, Anna Maria; Columbaro, Marta; Scarano, Gioacchino; Mattioli, Elisabetta; Sabatelli, Patrizia; Maraldi, Nadir M; Biocca, Silvia; Novelli, Giuseppe

    2005-10-17

    Autosomal recessive mandibuloacral dysplasia [mandibuloacral dysplasia type A (MADA); Online Mendelian Inheritance in Man (OMIM) no. 248370] is caused by a mutation in LMNA encoding lamin A/C. Here we show that this mutation causes accumulation of the lamin A precursor protein, a marked alteration of the nuclear architecture and, hence, chromatin disorganization. Heterochromatin domains are altered or completely lost in MADA nuclei, consistent with the finding that heterochromatin-associated protein HP1beta and histone H3 methylated at lysine 9 and their nuclear envelope partner protein lamin B receptor (LBR) are delocalized and solubilized. Both accumulation of lamin A precursor and chromatin defects become more severe in older patients. These results strongly suggest that altered chromatin remodeling is a key event in the cascade of epigenetic events causing MADA and could be related to the premature-aging phenotype.

  4. Evolving endoscopic technologies for the detection of dysplasia in inflammatory bowel diseases.

    PubMed

    Buda, Andrea; Lamboglia, Francesca; Hatem, Giorgia; D'Incà, Renata; Sturniolo, Giacomo Carlo

    2011-01-01

    Patients with long-standing and extensive ulcerative colitis (UC) and colonic Chron's disease (CD) have an increased risk of CRC compared with the general population. Although no large controlled trials have proven that surveillance reduces mortality, cancer prevention in inflammatory bowel disease depends on the detection of dysplasia during scheduled surveillance colonoscopy and is widely recommended by gastroenterological associations. Dysplasia in IBD may occur in flat mucosa or in raised lesions (DALM) which have sometimes endoscopic features similar to adenoma (adenoma-like DALM). Recently, new endoscopic techniques to facilitate the distinction between dysplastic and actively inflamed or normal mucosa have been proposed. Chromoendoscopy significantly increases the sensitivity of detecting subtle dysplastic lesions and has emerged as the new standard of cancer surveillance in patients with IBD. Confocal laser endomicroscopy (CLE) is a novel technique that enables the endoscopist to obtain real time in vivo microscopic images of the gastrointestinal mucosa and can be used for targeting biopsies to relevant areas. CLE in conjunction with chromoendoscopy proved able to increase the diagnostic yield of dysplasia in ulcerative colitis and reduce the number of biopsies needed. The role of digital filtering technologies (virtual chromoendoscopy) and autofluorescence in IBD surveillance will be also discussed.

  5. Lectin histochemistry as a predictor of dysplasia grade in colorectal adenomas.

    PubMed

    Lazaris, A C; Chatzigianni, E B; Paraskevakou, H; Tseleni-Balafouta, S; Davaris, P S

    2000-01-01

    Lectins are sugar-binding proteins that bind to specific cellular carbohydrates, commonly affecting cellular physiology. Phaseolus vulgaris leucoagglutinin (PHA), ulex europaeus isoagglutinin-I (UEA-I), wheat germ agglutinin (WGA) and peanut agglutinin (PNA) are among the most well studied lectins in various tissues. The purpose of this study was to detect the above lectins binding sites and so examine alterations in glycoconjugate expression in neoplastic cells of 52 colorectal adenomas with various clinicopathologic characteristics and proliferation rates. Lectin histochemistry was performed in paraffin sections with and without neuraminidase treatment. Proliferative fraction was determined by immunolabelling for Proliferating Cell Nuclear Antigen. PHA was the more frequently positive lectin in the examined specimens; however, it was simultaneously detected in normal colonic mucosa and so was WGA. The frequency of high grade dysplasia was significantly greater in older patients and in samples with UEA-I positivity without neuraminidase pretreatment. UEA-I-reactive adenomas were generally characterized by high cell proliferation rates. A statistical model based on patients age and UEA-I binding without neuraminidase treatment can generally predict grade of dysplasia in 83% of adenomas and particularly high grade dysplasia in up to 93% of adenomas; so, such a model may be potentially useful for the early detection of neoplasia, for instance in exfoliative cells from the large intestine.

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

    PubMed Central

    Ozer, Sezin; Ozden, Bora; Otan Ozden, Feyza; Gunduz, Kaan

    2013-01-01

    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. PMID:23762649

  7. Body mass index, serum total cholesterol, and risk of gastric high-grade dysplasia

    PubMed Central

    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 and 356 women) and 902 controls (543 men and 359 women) were enrolled from January 2000 to October 2015. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated, and a multivariate analysis was conducted. After adjusting for age, alcohol consumption, smoking status, family history of gastric cancer or esophageal cancer, and serum total cholesterol level, a BMI ranging from 27.5 to 29.9 was significantly related to an increased risk of gastric high-grade dysplasia in both men (adjusted OR = 1.87, 95% CI = 1.24–2.81) and women (adjusted OR = 2.72, 95% CI = 1.44–5.16). The 2 highest BMI categories (27.5–29.9 and ≥30.0) were identified as risk factors for gastric cardia high-grade dysplasia in both men (BMI = 27.5–29.9: adjusted OR = 1.78, 95% CI = 1.02–3.10; BMI ≥ 30.0: adjusted OR = 2.54, 95% CI = 1.27–5.08) and women (BMI = 27.5–29.9: adjusted OR = 2.88, 95% CI = 1.27–6.55; BMI ≥ 30.0: adjusted OR = 2.77, 95% CI = 1.36–5.64), whereas only a BMI ranging from 27.5 to 29.9 was a risk factor for gastric noncardia high-grade dysplasia in both men (adjusted OR = 1.98, 95% CI = 1.25–3.14) and women (adjusted OR = 2.88, 95% CI = 1.43–5.81). In addition, higher serum total cholesterol was associated with an increased risk of gastric noncardia high-grade dysplasia (adjusted OR = 1.83, 95% CI = 1.25–2.69) in women. Increased BMI was associated with an increased risk

  8. Surgical treatment of craniofacial fibrous dysplasia in adults.

    PubMed

    Bowers, Christian A; Taussky, Philipp; Couldwell, William T

    2014-01-01

    Craniofacial fibrous dysplasia (FD) is a rare disorder that may require neurosurgical expertise for definitive management; however, surgical management of FD in adult patients is uncommon. Although other therapies have been shown to slow progression, the only definitive cure for adult craniofacial FD is complete resection with subsequent reconstruction. The authors review the biological, epidemiologic, clinical, genetic, and radiographic characteristics of adult FD, with an emphasis on surgical management of FD. They present a small series of three adult patients with complex FD that highlights the surgical complexity required in some adult patients with FD. Because of the complex nature of these adult polyostotic craniofacial cases, the authors used neurosurgical techniques specific to the different surgical indications, including a transsphenoidal approach for resection of sphenoidal sinus FD, a transmaxillary approach to decompress the maxillary branch of the trigeminal nerve with widening of the foramen rotundum, and complete calvarial craniectomy with cranioplasty reconstruction. These cases exemplify the diverse range of skull base techniques required in the spectrum of surgical management of adult FD and demonstrate that novel variations on standard neurosurgical approaches to the skull base can provide successful outcomes with minimal complications in adults with complex craniofacial FD.

  9. Arrhythmogenic right ventricular dysplasia/cardiomyopathy. A review and update.

    PubMed

    Francés, Raúl J

    2006-06-28

    The arrhythmogenic right ventricular dysplasia/cardiomyopathy is an important cause of sudden arrhythmic death, often exertional, in young individuals and athletes. Although the aetiology remains partially unknown, genetic abnormalities have been demonstrated. Reported prevalence is 1 in 5000 individuals but it is considered there are many non-diagnosed cases. The characteristic pathologic finding is the progressive fibro-fatty replacement of the right ventricular myocardium. The clinical manifestations vary from asymptomatic patients with an episode of sudden cardiac death as first symptom to chronically symptomatic patients with recurrent palpitations and/or right or biventricular failure. Approximately a third of the patients show the characteristic Epsilon wave in the 12-lead ECG which is a useful screening test. Signal-averaged ECG frequently demonstrates late potentials. The two-dimensional echocardiography, magnetic resonance imaging, computerized tomography and right ventricular cineangiography show morphologic abnormalities in the right ventricle. Therapy is directed to prevent and/or treat malignant ventricular tachyarrhythmias with medications, implantable cardioverter defibrillator and radiofrequency ablation in selected cases.

  10. Imaging in osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma, and classic adamantinoma.

    PubMed

    Bethapudi, S; Ritchie, D A; Macduff, E; Straiton, J

    2014-02-01

    Fibro-osseous lesions of the bone are well-recognized primary bone tumours. However, given the degree of overlap of imaging findings and variation in management of various sub-types, it is a widely accepted practice to perform a biopsy to obtain histopathological confirmation of the diagnosis. The following is a summary of the epidemiology, clinicopathological features, and review of the imaging features of fibro-osseous lesions, including osteofibrous dysplasia, osteofibrous dysplasia-like adamantinoma, adamantinoma, and lesions that closely mimic them. The illustrated examples are histologically proven cases that were presented to a tertiary referral teaching hospital and national bone and soft-tissue tumours unit. It is important that all radiologists are aware of the nature and imaging characteristics of these tumour sub-types, so that suspected lesions are recognized and appropriately referred to specialist bone tumour services for work-up and management.

  11. A simplistic approach to structural dysplasia assessment: description and validation.

    PubMed Central

    Battinelli, T.

    1984-01-01

    The purpose of this study was to formulate a simplistic method of assessing human structural dysplasia and to validate a classification system that would objectively categorize the type and extent of such dysplasia through the use of indices. Anthropometric measurements were taken from a sample of 222 male college students, length/breadth ratios were formulated, and upper/lower body classifications were made in terms of type and subtype dysplasia. Correlation validation results were highly significant. Body composition data information was also provided for descriptive purposes. Images p23-a PMID:6722420

  12. Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

    PubMed Central

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

    2016-01-01

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

  13. Osteoglophonic dysplasia: review and further delineation of the syndrome.

    PubMed

    Sklower Brooks, S; Kassner, G; Qazi, Q; Keogh, M J; Gorlin, R J

    1996-12-11

    We report on a boy with clinical and radiologic findings of osteoglophonic dysplasia. He had craniostenosis, "bizarre," expansile cystic lesions in the diaphyses, delayed tooth eruption, and progressive rib expansion typical of the syndrome. Initially delayed psychomotor development with later normal intelligence, early feeding and breathing difficulty, and speech delay are also characteristic of the disorder. Manifestations, not previously reported in osteoglophonic dysplasia, present in the propositus are spontaneous fractures resulting in pseudoarthroses through cystic and dysplastic foci in his proximal femoral shafts and right humerus, pretibial dimples, hypospadias, marked rib expansion, and absence of significant vertebral abnormality. These findings expand the spectrum of osteoglophonic dysplasia.

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

    PubMed

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

    2016-01-01

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

  15. BOB CAT: A Large-Scale Review and Delphi Consensus for Management of Barrett’s Esophagus With No Dysplasia, Indefinite for, or Low-Grade Dysplasia

    PubMed Central

    Bennett, Cathy; Moayyedi, Paul; Corley, Douglas A.; DeCaestecker, John; Falck-Ytter, Yngve; Falk, Gary; Vakil, Nimish; Sanders, Scott; Vieth, Michael; Inadomi, John; Aldulaimi, David; Ho, Khek-Yu; Odze, Robert; Meltzer, Stephen J.; Quigley, Eamonn; Gittens, Stuart; Watson, Peter; Zaninotto, Giovanni; Iyer, Prasad G.; Alexandre, Leo; Ang, Yeng; Callaghan, James; Harrison, Rebecca; Singh, Rajvinder; Bhandari, Pradeep; Bisschops, Raf; Geramizadeh, Bita; Kaye, Philip; Krishnadath, Sheila; Fennerty, M. Brian; Manner, Hendrik; Nason, Katie S.; Pech, Oliver; Konda, Vani; Ragunath, Krish; Rahman, Imdadur; Romero, Yvonne; Sampliner, Richard; Siersema, Peter D.; Tack, Jan; Tham, Tony C.K.; Trudgill, Nigel; Weinberg, David S.; Wang, Jean; Wang, Kenneth; Wong, Jennie Y.Y.; Attwood, Stephen; Malfertheiner, Peter; MacDonald, David; Barr, Hugh; Ferguson, Mark K.; Jankowski, Janusz

    2015-01-01

    OBJECTIVES Barrett’s esophagus (BE) is a common premalignant lesion for which surveillance is recommended. This strategy is limited by considerable variations in clinical practice. We conducted an international, multidisciplinary, systematic search and evidence-based review of BE and provided consensus recommendations for clinical use in patients with nondysplastic, indefinite, and low-grade dysplasia (LGD). METHODS We defined the scope, proposed statements, and searched electronic databases, yielding 20,558 publications that were screened, selected online, and formed the evidence base. We used a Delphi consensus process, with an 80% agreement threshold, using GRADE (Grading of Recommendations Assessment, Development and Evaluation) to categorize the quality of evidence and strength of recommendations. RESULTS In total, 80% of respondents agreed with 55 of 127 statements in the final voting rounds. Population endoscopic screening is not recommended and screening should target only very high-risk cases of males aged over 60 years with chronic uncontrolled reflux. A new international definition of BE was agreed upon. For any degree of dysplasia, at least two specialist gastrointestinal (GI) pathologists are required. Risk factors for cancer include male gender, length of BE, and central obesity. Endoscopic resection should be used for visible, nodular areas. Surveillance is not recommended for <5 years of life expectancy. Management strategies for indefinite dysplasia (IND) and LGD were identified, including a de-escalation strategy for lower-risk patients and escalation to intervention with follow-up for higher-risk patients. CONCLUSIONS In this uniquely large consensus process in gastroenterology, we made key clinical recommendations for the escalation/de-escalation of BE in clinical practice. We made strong recommendations for the prioritization of future research. PMID:25869390

  16. Heterogeneity of Genetic Damage in Cervical Nuclei and Lymphocytes in Women with Different Levels of Dysplasia and Cancer-Associated Risk Factors

    PubMed Central

    Alvarez-Moya, Carlos; Reynoso-Silva, Mónica; Canales-Aguirre, Alejandro A.; Chavez-Chavez, José O.; Castañeda-Vázquez, Hugo; Feria-Velasco, Alfredo I.

    2015-01-01

    The comet assay can be used to assess genetic damage, but heterogeneity in the length of the tails is frequently observed. The aims of this study were to evaluate genetic damage and heterogeneity in the cervical nuclei and lymphocytes from patients with different levels of dysplasia and to determine the risk factors associated with the development of cervical cancer. The study included 97 females who presented with different levels of dysplasia. A comet assay was performed in peripheral blood lymphocytes and cervical epithelial cells. Significant genetic damage (P ≤ 0.05) was observed only in patients diagnosed with nuclei cervical from dysplasia III (NCDIII) and lymphocytes from dysplasia I (LDI). However, the standard deviations of the tail lengths in the cervical nuclei and lymphocytes from patients with dysplasia I were significantly different (P ≤ 0.0001) from the standard deviations of the tail lengths in the nuclei cervical and lymphocytes from patients with DII and DIII (NCDII, NCDIII and LDII, LDIII), indicating a high heterogeneity in tail length. Results suggest that genetic damage could be widely present but only manifested as increased tail length in certain cell populations. This heterogeneity could obscure the statistical significance of the genetic damage. PMID:26339603

  17. Coronary Artery Manifestations of Fibromuscular Dysplasia

    PubMed Central

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

    2015-01-01

    Fibromuscular dysplasia (FMD) involving the coronary arteries is an uncommon but important condition that can present as acute coronary syndrome, left ventricular dysfunction, or potentially sudden cardiac death. Although the classic angiographic “string of beads” that may be observed in renal artery FMD does not occur in coronary arteries, potential manifestations include spontaneous coronary artery dissection, distal tapering or long, smooth narrowing that may represent dissection, intramural hematoma, spasm, or tortuosity. Importantly, FMD must be identified in at least one other noncoronary arterial territory to attribute any coronary findings to FMD. Although there is limited evidence to guide treatment, many lesions heal spontaneously; thus, a conservative approach is generally preferred. The etiology is poorly understood, but there are ongoing efforts to better characterize FMD and define its genetic and molecular basis. This report reviews the clinical course of FMD involving the coronary arteries and provides guidance for diagnosis and treatment strategies. PMID:25190240

  18. Coronary artery manifestations of fibromuscular dysplasia.

    PubMed

    Michelis, Katherine C; Olin, Jeffrey W; Kadian-Dodov, Daniella; d'Escamard, Valentina; Kovacic, Jason C

    2014-09-09

    Fibromuscular dysplasia (FMD) involving the coronary arteries is an uncommon but important condition that can present as acute coronary syndrome, left ventricular dysfunction, or potentially sudden cardiac death. Although the classic angiographic "string of beads" that may be observed in renal artery FMD does not occur in coronary arteries, potential manifestations include spontaneous coronary artery dissection, distal tapering or long, smooth narrowing that may represent dissection, intramural hematoma, spasm, or tortuosity. Importantly, FMD must be identified in at least one other noncoronary arterial territory to attribute any coronary findings to FMD. Although there is limited evidence to guide treatment, many lesions heal spontaneously; thus, a conservative approach is generally preferred. The etiology is poorly understood, but there are ongoing efforts to better characterize FMD and define its genetic and molecular basis. This report reviews the clinical course of FMD involving the coronary arteries and provides guidance for diagnosis and treatment strategies.

  19. The Epidemiology and Demographics of Hip Dysplasia

    PubMed Central

    Loder, Randall T.; Skopelja, Elaine N.

    2011-01-01

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

  20. McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism - case report.

    PubMed

    Raus, Iulian; Coroiu, Roxana Elena

    2016-01-01

    McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level. The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune - Albright syndrome.

  1. Circulating Fibrocytes Are Increased in Neonates with Bronchopulmonary Dysplasia

    PubMed Central

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

    2016-01-01

    Background Bronchopulmonary dysplasia (BPD) is characterized by the aberrant remodeling of the lung parenchyma, resulting from accumulation of fibroblasts or myofibroblasts. Circulating fibrocytes are implied in pulmonary fibrosis, but whether these cells are associated with the development of BPD or the progressive fibrosis is unknown. The aim of the present study was to investigate the occurrence of fibrocytes in peripheral venous blood and explore whether these cells might be associated with severity of BPD. Methods We investigated circulating fibrocytes in 66 patients with BPD, 23 patients with acute respiratory distress syndrome(ARDS) and 11 normal subjects. Circulating fibrocytes were defined and quantified as cells positive for CD45 andcollagen-1 by flow cytometry. Furthermore, serum SDF-1/CXCL12 and TGF-β1 were evaluated using ELISA methods. We also investigated the clinical value of fibrocyte counts by comparison with standard clinical parameters. Results The patients with BPD had significantly increased numbers of fibrocytes compared to the controls (p < 0.01). Patients with ARDS were not different from healthy control subjects. There was a correlation between the number of fibrocytes and pulmonary hypertension or oxygen saturation (p < 0.05). Fibrocyte numbers were not correlated with other clinical or functional variables or radiologic severity scores. The fibrocyte attractant chemokine CXCL12 increased in plasma (p < 0.05) and was detectable in the bronchoalveolar lavage fluid of 40% of the patients but not in controls. Conclusion These findings indicate that circulating fibrocytes are increased in patients with BPD and may contribute to pulmonary fibrosis in BPD. Circulating fibrocytes, likely recruited through the CXCR4/CXCL12 axis, might contribute to the production of TGF-β1 for the expansion of fibroblast/myofibroblast population in BPD. PMID:27309347

  2. Segmental arterial mediolysis: a precursor to fibromuscular dysplasia?

    PubMed

    Slavin, R E; Saeki, K; Bhagavan, B; Maas, A E

    1995-04-01

    We describe five cases of segmental arterial mediolysis (SAM), formerly known as segmental mediolytic arteritis. SAM occurs in epicardial coronary arteries and in the abdominal splanchnic arteries. Patients with abdominal SAM are generally elderly, whereas coronary SAM presents in neonates, children, and young adults. SAM is initiated by mediolysis of the outer media, which can expand to involve the mid- and inner media. Accompanying alterations include fibrinous linear deposits at the medial adventitial junction and replacement of the lysed muscle fibers by fibrin, erythrocytes, and granulation tissue. Transmural mediolysis results in arterial wall gaps frequently complicated by dissecting hematomas and aneurysms. Abdominal hemorrhages stem from these complications. SAM involving abdominal splanchnic arteries clinically presents with abdominal pain and distension, falling hematocrit, and shock. Simultaneous involvement of more than one abdominal artery is frequent, and branches of the celiac axis are most commonly affected. Various disease states that provoke pathologic stimuli for endothelial mediated vasoconstriction occur in the immediate clinical background of patients with SAM. Certain morphologic features of SAM suggest that this arterial lesion is due to vasospasm, which we putatively ascribe to focal endothelial paracrine dysfunction. Organization of uncomplicated SAM lesions could resemble certain types of fibromuscular dysplasia, suggesting that the genesis of such arterial lesions is related to vasospasm.

  3. Gelastic seizures due to right temporal cortical dysplasia.

    PubMed

    Dericioglu, Nese; Cataltepe, Oguz; Tezel, Gaye Guler; Saygi, Serap

    2005-06-01

    Gelastic seizures are an uncommon seizure type. They are most frequently observed in patients with hypothalamic hamartoma. Their association with other types of cerebral lesions is rare. Depending on the location of the lesion, gelastic seizures may or may not be accompanied by a subjective feeling of mirth. The pathophysiological mechanisms of this type of seizure are still undefined, and little is known about which pathways promote laughter and its emotional content, mirth. We present a young man with drug-resistant, gelastic seizures due to focal cortical dysplasia of the right inferior temporal gyrus. The lesion was evident on cranial MRI. Interictal EEG displayed a right temporal focus, whereas ictal EEG was not informative. Ictal loss of consciousness precluded reporting of any possible emotional experience. The patient underwent surgical resection of the lesion and has been seizure-free with anti-epileptic medication for two years. Although various anatomical regions may elicit laughter, in view of the current literature it seems that the anterior cingulate region is involved in the motor aspects of laughter, while the basal temporal cortex is involved in the processing of mirth. The fact that the present case exhibited gelastic seizures stresses once more the importance of the baso-lateral temporal cortex in the genesis of this type of seizures.[Published with video sequences].

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

    PubMed

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

    2014-01-01

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

  5. Evaluation of glutathione S-transferase activity in human buccal epithelial dysplasias and squamous cell carcinomas.

    PubMed

    Chen, Y K; Lin, L M

    1997-06-01

    Glutathione S-transferase (GST) activity and amount of GST alpha, mu and pi isoforms were measured in 40 patients with histopathologically confirmed oral epithelial dysplasia (OED) and squamous cell carcinoma of buccal mucosa. The results were compared with those of normal mucosa in an equal number of age- and sex-matched healthy controls. Mean total GST activities were significantly elevated from normal buccal mucosa for mild OED, moderate OED, severe OED and squamous cell carcinoma. GST activity of value approximating 100 nmol/min/mg distinguished between normal and dysplasia, and of value about 400 nmol/min/mg delineated between dysplasia and squamous cell carcinoma were observed. GST pi was the predominant class in both the diseased and normal buccal mucosa examined. This class pi GST was present at an intracellular concentration, which was significantly higher in diseased buccal mucosa than in normal buccal mucosa. These results indicated that pi class GST was the major form of this enzyme in the cytosolic fraction of oral mucosa. The severity of OED related to squamous cell carcinoma development seemed to increase concomitantly with an increase in the level of this enzyme. Further studies will validate the role of GST pi estimation in predicting the potential malignancy of OED.

  6. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

    PubMed

    Brancati, Francesco; Fortugno, Paola; Bottillo, Irene; Lopez, Marc; Josselin, Emmanuelle; Boudghene-Stambouli, Omar; Agolini, Emanuele; Bernardini, Laura; Bellacchio, Emanuele; Iannicelli, Miriam; Rossi, Alfredo; Dib-Lachachi, Amina; Stuppia, Liborio; Palka, Giandomenico; Mundlos, Stefan; Stricker, Sigmar; Kornak, Uwe; Zambruno, Giovanna; Dallapiccola, Bruno

    2010-08-13

    Ectodermal dysplasias form a large disease family with more than 200 members. The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS). We used a homozygosity mapping approach to map the EDSS locus to 1q23 in a consanguineous Algerian family. By candidate gene analysis, we identified a homozygous mutation in the PVRL4 gene that not only evoked an amino acid change but also led to exon skipping. In an Italian family with two siblings affected by EDSS, we further detected a missense and a frameshift mutation. PVRL4 encodes for nectin-4, a cell adhesion molecule mainly implicated in the formation of cadherin-based adherens junctions. We demonstrated high nectin-4 expression in hair follicle structures, as well as in the separating digits of murine embryos, the tissues mainly affected by the EDSS phenotype. In patient keratinocytes, mutated nectin-4 lost its capability to bind nectin-1. Additionally, in discrete structures of the hair follicle, we found alterations of the membrane localization of nectin-afadin and cadherin-catenin complexes, which are essential for adherens junction formation, and we found reorganization of actin cytoskeleton. Together with cleft lip and/or palate ectodermal dysplasia (CLPED1, or Zlotogora-Ogur syndrome) due to an impaired function of nectin-1, EDSS is the second known "nectinopathy" caused by mutations in a nectin adhesion molecule.

  7. Colitis cystica profunda indefinite for dysplasia in Crohn disease: a potential diagnostic pitfall.

    PubMed

    Hernandez-Prera, Juan Carlos; Polydorides, Alexandros D

    2014-12-01

    Colitis cystica profunda (CCP) is a nonneoplastic condition characterized by misplaced glands deep to the muscularis mucosae of the colon and may be difficult to differentiate from well-differentiated mucinous adenocarcinoma. Absence of dysplasia in CCP usually aids in this distinction. We present a challenging case of CCP in the setting of Crohn disease (CD) containing foci of atypical epithelium. A right hemicolectomy from a 46-year-old woman contained a stricture associated with a proximal multilocular cystic lesion containing mucin-filled glands dissecting through the colonic wall. These glands had lobulated architecture with smooth contours surrounded by lamina propria and lacking desmoplastic stroma. The epithelium had focal nuclear crowding, enlargement, and hyperchromasia, with increased nucleus to cytoplasm ratio, but overall preserved polarity. Atypical cells were focally positive for CK7 and p53, with increased MIB-1 staining. These findings were interpreted as indefinite for dysplasia. Chronic transmural inflammation and mucosal regeneration probably facilitated epithelial misplacement, which secondarily developed cytologic atypia. However, the overall architecture and lack of dysplasia in the overlying mucosa argue against a diagnosis of adenocarcinoma. Our case illustrates the difficult diagnosis of this uncommon but problematic phenomenon, awareness of which is paramount for pathologists and clinicians participating in the management of CD patients.

  8. Dysplastic conditions of the right ventricular myocardium: Uhl's anomaly vs arrhythmogenic right ventricular dysplasia.

    PubMed Central

    Gerlis, L M; Schmidt-Ott, S C; Ho, S Y; Anderson, R H

    1993-01-01

    OBJECTIVE--Since 1905 there have been many reports of cases in which the right ventricle was deficient in myocardium. Several terms have been used to describe this condition. Of these, "Uhl's anomaly" and "arrhythmogenic right ventricular dysplasia" are most often used. Our study investigates the relation between these entities. METHOD--Five cases with a primary deficiency of the right ventricular musculature were examined. The findings were compared with those published reports to evaluate the similarities and differences between Uhl's anomaly and arrhythmogenic dysplasia. RESULTS--The five cases showed two patterns of myocardial deficiency in the right ventricle. On the one hand, the parietal wall was paper thin with complete absence of musculature and apposition of the endocardial and epicardial layers. On the other hand, patchy, localised fibrofatty tissue replacement was found within the parietal musculature. Evidence from our cases, combined with analysis of other publications, showed different modes and timing of clinical presentation of the patients with these two anatomical conditions, congestive heart failure or arrhythmia. CONCLUSIONS--The conditions variously described as Uhl's anomaly and arrhythmogenic dysplasia are separate and distinct morphological entities. Images PMID:8435240

  9. Osteofibrous Dysplasia managed with Extraperiosteal excision, Autologous free fibular graft and bone graft substitute

    PubMed Central

    Abraham, Vineet T; Marimuthu, Chandrasekaran; Subbaraj, Ravichandran; Rengarajan, Nandakumar

    2015-01-01

    Introduction: Osteofibrous Dysplasia is a rare benign self-limiting fibro-osseous lesion most commonly seen in the diaphysis of the tibia. Its incidence is reported to be 0.2% of all primary bone tumors. It occurs in the first two decades of life with a slight male preponderance. Surgical options include extra periosteal resection, autologous graft, limb lengthening procedures etc. There are no case reports mentioning the use of synthetic bone graft to fill the defect following extraperiosteal excision. Case Report: A 13 year old girl presented with pain and swelling of the (R) leg since 2 months following a trivial injury at school. Examination revealed a 5×3cm tender swelling on the anteromedial aspect of the middle third tibia. Radiographs and MRI, revealed an eccentric expansile lytic lesion, which was multilocular and was present at the junction of the metaphysis and diaphysis on the antero -medial aspect of tibia. The cortex had ballooned out and there was a possibility of an impending fracture. Biopsy was done which revealed osteofibrous dysplasia. We did an extraperiosteal excision of the lesion. To fill the cavity we harvested 10 cm of the contralateral fibula and since there was still space in the cavity, we packed bone graft substitute (hydroxyapatite crystals) into the defect. The surgical management of osteofibrous dysplasia is controversial. Various methods of treatment of such cases have been described in literature. The use of synthetic graft is an option in these patients as it reduces morbidity; and in our case we had good graft incorporation with this method. Conclusion: Extraperiosteal Excision of Osteofibrous dysplasia combined with autologous free fibular graft and bone graft substitute is a good surgical option to prevent recurrence and mange bone defects in this rare lesion. PMID:27299018

  10. Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

    PubMed

    Casey, Jillian P; Brennan, Kieran; Scheidel, Noemie; McGettigan, Paul; Lavin, Paul T; Carter, Stephen; Ennis, Sean; Dorkins, Huw; Ghali, Neeti; Blacque, Oliver E; Mc Gee, Margaret M; Murphy, Helen; Lynch, Sally Ann

    2016-05-01

    Skeletal dysplasias are a clinically and genetically heterogeneous group of bone and cartilage disorders. Whilst >450 skeletal dysplasias have been reported, 30% are genetically uncharacterized. We report two Irish Traveller families with a previously undescribed lethal skeletal dysplasia characterized by fetal akinesia, shortening of all long bones, multiple contractures, rib anomalies, thoracic dysplasia, pulmonary hypoplasia and protruding abdomen. Single nucleotide polymorphism homozygosity mapping and whole exome sequencing identified a novel homozygous stop-gain mutation in NEK9 (c.1489C>T; p.Arg497*) as the cause of this disorder. NEK9 encodes a never in mitosis gene A-related kinase involved in regulating spindle organization, chromosome alignment, cytokinesis and cell cycle progression. This is the first disorder to be associated with NEK9 in humans. Analysis of NEK9 protein expression and localization in patient fibroblasts showed complete loss of full-length NEK9 (107 kDa). Functional characterization of patient fibroblasts showed a significant reduction in cell proliferation and a delay in cell cycle progression. We also provide evidence to support possible ciliary associations for NEK9. Firstly, patient fibroblasts displayed a significant reduction in cilia number and length. Secondly, we show that the NEK9 orthologue in Caenorhabditis elegans, nekl-1, is almost exclusively expressed in a subset of ciliated cells, a strong indicator of cilia-related functions. In summary, we report the clinical and molecular characterization of a lethal skeletal dysplasia caused by NEK9 mutation and suggest that this disorder may represent a novel ciliopathy.

  11. Refractory anemia with severe dysplasia: clinical significance of morphological features in refractory anemia.

    PubMed

    Matsuda, A; Jinnai, I; Yagasaki, F; Kusumoto, S; Minamihisamatsu, M; Honda, S; Murohashi, I; Bessho, M; Hirashima, K

    1998-04-01

    Refractory anemia (RA) in myelodysplastic syndromes (MDS) are very heterogeneous diseases regarding their morphology, clinical features and survival. We proposed the new designations 'RA with severe dysplasia (RASD)' and 'RA with minimal dysplasia (RAminiD)'. In our criteria, RASD is considered present if a bone marrow (BM) examination shows Pseudo-Pelger-Huet anomalies of mature neutrophils > or =3% and/or micromegakaryocytes (mMgk) of megakaryocytes > or =10% in RA patients. RAminiD is defined as RA cases other than RASD. After the reclassification of 58 primary RA patients, the group was composed of 45 RAminiD and 13 RASD patients. The blast percentage in the BM and the frequency of cytogenetic abnormalities observed in the RASD patients were intermediate between those in the RAminiD and RAEB patients. The analysis of survival curves revealed differences among the three groups; the RASD patients had lower survival probabilities than those of the RAminiD group, and significantly higher probabilities than those of the RAEB group. (RAminiD vs RASD, P=0.06; RASD vs RAEB, P=0.004.) Our data indicate that in RA patients, RASD is a distinct subset of RA with an unfavorable clinical outcome.

  12. Use of an abduction brace for developmental dysplasia of the hip after failure of Pavlik harness use.

    PubMed

    Hedequist, Daniel; Kasser, James; Emans, John

    2003-01-01

    The authors reviewed the records of 15 infants who were treated with an abduction brace after Pavlik harness use for developmental dysplasia of the hip (DDH) failed. Failure was defined as persistent dislocation or instability of the hip. Thirteen of these 15 patients had resolution of DDH with the use of an abduction brace. The median time spent in the brace before stabilization of examination findings was 24 days; the median time in the brace before normalization of ultrasound parameters was 46 days. There were no complications with regard to use of the abduction orthosis. At final follow-up of an average of 3 years and 7 months, no patient had undergone surgery and no patient had residual dysplasia or avascular necrosis of the hip. The two patients in whom both the Pavlik harness and abduction brace failed went on to successful closed reduction and spica cast application.

  13. Risk factors for cervical dysplasia in Kerala, India.

    PubMed Central

    Varghese, C.; Amma, N. S.; Chitrathara, K.; Dhakad, N.; Rani, P.; Malathy, L.; Nair, M. K.

    1999-01-01

    A study in Kerala, India, confirmed the importance of genital hygiene in the fight against infections that have a role in the development of cervical dysplasia and cancer. Many women cannot afford sanitary pads, while adequate facilities for washing after coitus are often unavailable. Health education, satisfactory living standards, and the empowerment of women are prerequisites for reducing the incidence of cervical dysplasia. PMID:10212523

  14. Osteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis

    PubMed Central

    Gopinathan, Nirmal Raj; Prakash, Mahesh; Saibaba, Balaji; Das, Ashim

    2016-01-01

    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. PMID:27413281

  15. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

    PubMed

    Borochowitz, Z; Langer, L O; Gruber, H E; Lachman, R; Katznelson, M B; Rimoin, D L

    1993-02-01

    We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

  16. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia

    PubMed Central

    Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin

    2016-01-01

    Abstract SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain. We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated. PMID:27149441

  17. [Incidence and physiopathology of high-grade dysplasia in Barrett's esophagus].

    PubMed

    Coriat, Romain; Perkins, Géraldine; Brezault, Catherine

    2011-05-01

    Barrett's esophagus is a well-known precursor of esophageal adenocarcinoma. Monitoring patients with Barrett's esophagus is recommended for detecting high-grade dysplasia or cancer. Gastroesophageal reflux disease affects approximately 20% of the population in developed countries. About 10-15% of patients with gastroesophageal reflux disease develop Barrett's esophagus, which can progress to adenocarcinoma. The esophagus is normally lined by squamous mucosa. Therefore, it is clear that for an adenocarcinoma, there is a prior sequence of events that lead to normal squamous mucosa transformation.

  18. Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia.

    PubMed

    Saito, Yoshiaki; Hayashi, Masaharu; Miyazono, Yayoi; Shimogama, Tatsuro; Ohno, Kousaku

    2006-05-01

    We report the autopsy case of a boy with arthrogryposis multiplex congenita, associated with callosal agenesis and dentato-olivary dysplasia. The patient manifested with dysmorphic facial features and suffered from intractable epilepsy during the neonatal period. These sets of complications suggest that a common molecular mechanism may be involved in the development of corpus callosum and the folding of the dentate and inferior olivary nuclei. Deep brain structures, including the brainstem and the cerebellum, may be involved in the pathophysiology of symptomatic generalized epilepsy. The differential diagnoses for the clinical and pathological characteristics of this patient are discussed.

  19. Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up

    PubMed Central

    Conceição Pinto, Moara e Silva; Melo do Val, Cinthya; Costa Oliveira, Leonam; Costa de Aquino, Cristhyane

    2016-01-01

    Ectodermal dysplasia (ED) is a genetically heterogeneous condition resulting from clinical anomalies of structures derived from the ectoderm, such as the hair, nails, sweat glands, and teeth. This clinical report presents the case of a child diagnosed with hypohidrotic ED at 2 years of age; clinical and imaging evaluation was performed with 6-year follow-up, and we present details of the prosthetic dental care, with a 12-month follow-up. The patient's masticatory capacity had improved, leading to the child gaining 4 kg. In conclusion, prosthetic management was noninvasive and appeared to lead to developmental benefits for the patient. PMID:27822392

  20. Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families

    PubMed Central

    Yan, Wenjin; Dai, Jin; Xu, Zhihong; Shi, Dongquan; Chen, Dongyang; Xu, Xingquan; Song, Kai; Yao, Yao; Li, Lan; Ikegawa, Shiro; Teng, Huajian; Jiang, Qing

    2016-01-01

    Progressive pseudorheumatoid dysplasia (PPD) is a rare disease caused by mutations in the gene for Wnt1-inducible signaling pathway protein 3 (WISP3). Here, we report the clinical and radiographic manifestations of two Chinese PPD patients. We performed whole-exome sequencing for one patient and sequenced the WISP3 for the other. Three WISP3 mutations (c.396T>G, c.721T>G and c.679dup) were identified; the two missense mutations were novel. Our study expanded the WISP3 mutation spectrum. PMID:28018607

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

    PubMed

    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.

  2. Podoplanin expression in adamantinoma of long bones and osteofibrous dysplasia.

    PubMed

    Kashima, Takeshi G; Dongre, Arunthati; Flanagan, Adrienne M; Hogendoorn, Pancras C W; Taylor, Richard; Athanasou, Nicholas A

    2011-07-01

    Adamantinoma of long bones (ALB) and osteofibrous dysplasia (OFD) are rare osteolytic bone tumours that principally arise in the tibia. Both ALB and OFD contain epithelial and stromal elements, as well as areas of fibro-osseous proliferation. We assessed expression of podoplanin, a glycoprotein found in osteocytes, in OFD and ALB as well as in fibrous dysplasia and metastatic cancer. Forty-two cases of ALB and OFD, 20 cases of fibrous dysplasia and 20 cases of metastatic carcinoma to bone were stained by immunohistochemistry for expression of podoplanin, epithelial (cytokeratin, epithelial membrane antigen) and vascular (CD34, LYVE-1) markers. Podoplanin was expressed in epithelial cells and tumour glands in ALB as well as in scattered intertrabecular stromal cells in both ALB and OFD. Podoplanin was not expressed by intertrabecular stromal cells in fibrous dysplasia or in metastatic adenocarcinoma. Podoplanin was expressed by osteocytes but not osteoblasts of woven and lamellar bone trabeculae in ALB, OFD, fibrous dysplasia and skeletal metastases. The finding of a common osteocyte marker in OFD/ALB stromal cells is in keeping with a close histogenetic relationship between OFD and ALB; this may reflect the prominence of fibro-osseous proliferation in these tumours. The expression of podoplanin in an osteolytic tumour of the tibia may be useful as a diagnostic discriminant in distinguishing OFD from fibrous dysplasia and ALB from metastatic adenocarcinoma.

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

    PubMed

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

    2015-10-01

    Fibromuscular dysplasia (FMD) is a non-atherosclerotic disease associated with hypertension, headache, dissection, stroke, and aneurysm. The etiology is unknown but hypothesized to involve genetic and environmental components. Previous studies suggest a possible overlap of FMD with other connective tissue diseases that present with dissections and aneurysms. The aim of this study was to investigate the prevalence of connective tissue physical features in FMD. A total of 142 FMD patients were consecutively enrolled at a single referral center (97.9% female, 92.1% of whom had multifocal FMD). Data are reported for 139 female patients. Moderately severe myopia (29.1%), high palate (33.1%), dental crowding (29.7%), and early-onset arthritis (15.6%) were prevalent features. Classic connective features such as hypertelorism, cleft palate, and hypermobility were uncommon. The frequency of systemic connective tissue features was compared between FMD patients with a high vascular risk profile (having had ⩾1 dissection and/or ⩾2 aneurysms) and those with a standard vascular risk profile. A history of spontaneous pneumothorax (5.9% high risk vs 0% standard risk) and atrophic scarring (17.6% high risk vs 6.8% standard risk) were significantly more prevalent in the high risk group, p<0.05. High palate was observed in 43.1% of the high risk group versus 27.3% in the standard risk group, p=0.055. In conclusion, in a cohort of women with FMD, there was a prevalence of moderately severe myopia, high palate, dental crowding, and early-onset osteoarthritis. However, a characteristic phenotype was not discovered. Several connective tissue features such as high palate and pneumothorax were more prominent among FMD patients with a high vascular risk profile.

  4. Biomarkers for Bronchopulmonary Dysplasia in the Preterm Infant

    PubMed Central

    Rivera, Lidys; Siddaiah, Roopa; Oji-Mmuo, Christiana; Silveyra, Gabriela R.; Silveyra, Patricia

    2016-01-01

    Bronchopulmonary dysplasia (BPD) is a chronic inflammatory lung disease of very-low-birth-weight (VLBW) preterm infants, associated with arrested lung development and a need for supplemental oxygen. Over the past few decades, the incidence of BPD has significantly raised as a result of improved survival of VLBW infants requiring mechanical ventilation. While early disease detection is critical to prevent chronic lung remodeling and complications later in life, BPD is often difficult to diagnose and prevent due to the lack of good biomarkers for identification of infants at risk, and overlapping symptoms with other diseases, such as pulmonary hypertension (PH). Due to the current lack of effective treatment available for BPD and PH, research is currently focused on primary prevention strategies, and identification of biomarkers for early diagnosis, that could also represent potential therapeutic targets. In addition, novel histopathological, biochemical, and molecular factors have been identified in the lung tissue and in biological fluids of BPD and PH patients that could associate with the disease phenotype. In this review, we provide an overview of biomarkers for pediatric BPD and PH that have been identified in clinical studies using various biological fluids. We also present a brief summary of the information available on current strategies and guidelines to prevent and diagnose BPD and PH, as well as their pathophysiology, risk factors, and experimental therapies currently available. PMID:27065351

  5. Identification of CANT1 Mutations in Desbuquois Dysplasia

    PubMed Central

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

    2009-01-01

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

  6. Aberrant Pulmonary Vascular Growth and Remodeling in Bronchopulmonary Dysplasia

    PubMed Central

    Alvira, Cristina M.

    2016-01-01

    In contrast to many other organs, a significant portion of lung development occurs after birth during alveolarization, thus rendering the lung highly susceptible to injuries that may disrupt this developmental process. Premature birth heightens this susceptibility, with many premature infants developing the chronic lung disease, bronchopulmonary dysplasia (BPD), a disease characterized by arrested alveolarization. Over the past decade, tremendous progress has been made in the elucidation of mechanisms that promote postnatal lung development, including extensive data suggesting that impaired pulmonary angiogenesis contributes to the pathogenesis of BPD. Moreover, in addition to impaired vascular growth, patients with BPD also frequently demonstrate alterations in pulmonary vascular remodeling and tone, increasing the risk for persistent hypoxemia and the development of pulmonary hypertension. In this review, an overview of normal lung development will be presented, and the pathologic features of arrested development observed in BPD will be described, with a specific emphasis on the pulmonary vascular abnormalities. Key pathways that promote normal pulmonary vascular development will be reviewed, and the experimental and clinical evidence demonstrating alterations of these essential pathways in BPD summarized. PMID:27243014

  7. A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene

    PubMed Central

    Karaer, Kadri; Yüksel, Zafer; Yalınbaş, Esin; Scherer, Gerd

    2014-01-01

    Campomelic dysplasia (CD, OMIM #114290) is a rare autosomal dominant disease characterized with bending and shortness in the long bones of the lower extremities, typical facial features, hypoplastic scapula, costa defect, narrow thorax and pes equinovarus. Campomelic dysplasia occurs with heterozygous mutations in the SOX9 gene in the 17q24 chromosome. The main findings of our four-day old patient included typical facial features, risomelic extremity shortness, angular bending in the long bones of bilateral lower extremities and pes equinovarus. On direct graphies, costa defect and scapula hypoplasia were noted. We showed a missense mutation (c.473C>T [p.A158V]) in the SOX9 gene which had not been reported before in our patient who had the typical clinical findings of CD. The family of the patient was informed about potential future pathologies of this disease and received genetic counseling. PMID:26078652

  8. Morphologic studies in the skeletal dysplasias.

    PubMed Central

    Sillence, D. O.; Horton, W. A.; Rimoin, D. L.

    1979-01-01

    Considerable progress has been made in the delineation of the genetic skeletal dysplasias, a heterogeneous group of disorders, that consist of over 80 distinct conditions. Morphologic studies have added a further dimension to the delineation of these conditions, their diagnosis, and the investigation of their pathogenetic mechanisms. In certain diseases, the morphologic alterations are characteristic and pathognomonic. In others only nonspecific alterations are observed, whereas in still other disorders growth-plate structure is essentially normal. Histologic, histochemical, and electronmicroscopic studies of growth-plate cartilage have provided new insights into the complexity of morphogenetic events in normal growth through the demonstration of morphologic defects in the genetic disorders of skeletal growth. As yet, very little is known of the biochemical abnormalities underlying the morphologic abnormalities. However, the great variety of morphologic findings points to a number of different pathogenetic defects in the synthesis, release, and assembly of connective tissue macromolecules and in the cells involved in growth-plate metabolism. Images Figure 4 Figure 8 Figure 5 Figure 7 Figure 10 Figure 6 Figure 9 Figure 1 Figure 3 Figure 2 PMID:474720

  9. Genetic heterogeneity in multiple epiphyseal dysplasia

    SciTech Connect

    Deere, M.; Blanton, S.H.; Scott, C.I.

    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.

  10. The Erlenmeyer Flask Bone Deformity in the Skeletal Dysplasias

    PubMed Central

    Faden, Maha A.; Krakow, Deborah; Ezgu, Fatih; Rimoin, David L.; Lachman, Ralph S.

    2010-01-01

    Erlenmeyer flask bone deformity (EFD) is a long-standing term used to describe a specific abnormality of the distal femora. The deformity consists of lack of modeling of the di-metaphysis with abnormal cortical thinning and lack of the concave di-metaphyseal curve resulting in an Erlenmeyer flask-like appearance. Utilizing a literature review and cohort study of 12 disorders we found 20 distinct disorders were associated with EFD. We interrogated the International Skeletal Dysplasia Registry (ISDR) radiographic database (1988–2007) to determine which skeletal dysplasias or syndromes were highly associated with EFD, whether it was a uniform finding in these disorders, and if forms of EFD could be differentiated. EFD was classified into three groups. The first catogory was the typical EFD shaped bone (EFD-T) resultant from absent normal di-metaphyseal modeling with relatively normal appearing radiographic trabecular bone. EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia-Engelmann type, metaphyseal dysplasia-Pyle type, Melnick–Needles osteodysplasty, and otopalatodigital syndrome type I. The second group was the atypical type (EFD-A) due to absence of normal di-metaphyseal modeling with abnormal radiographic appearance of trabecular bone and was seen in dysosteosclerosis and osteopetrosis. The third group was EFD-marrow expansion type (EFD-ME) in which bone marrow hyperplasia or infiltration leads to abnormal modeling (e.g., Gaucher disease). Further, radiographic review determined that it was not always a consistent finding and that there was variability in both appearance and location within the skeleton. This analysis and classification aided in differentiating disorders with the finding of EFD. PMID:19444897

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

    PubMed

    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.

  12. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

    PubMed

    Volpi, Stefano; Yamazaki, Yasuhiro; Brauer, Patrick M; van Rooijen, Ellen; Hayashida, Atsuko; Slavotinek, Anne; Sun Kuehn, Hye; Di Rocco, Maja; Rivolta, Carlo; Bortolomai, Ileana; Du, Likun; Felgentreff, Kerstin; Ott de Bruin, Lisa; Hayashida, Kazutaka; Freedman, George; Marcovecchio, Genni Enza; Capuder, Kelly; Rath, Prisni; Luche, Nicole; Hagedorn, Elliott J; Buoncompagni, Antonella; Royer-Bertrand, Beryl; Giliani, Silvia; Poliani, Pietro Luigi; Imberti, Luisa; Dobbs, Kerry; Poulain, Fabienne E; Martini, Alberto; Manis, John; Linhardt, Robert J; Bosticardo, Marita; Rosenzweig, Sergio Damian; Lee, Hane; Puck, Jennifer M; Zúñiga-Pflücker, Juan Carlos; Zon, Leonard; Park, Pyong Woo; Superti-Furga, Andrea; Notarangelo, Luigi D

    2017-03-06

    We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition and altered fibroblast growth factor 2 signaling, which was rescued by overexpression of wild-type EXTL3 cDNA. Interleukin-2-mediated STAT5 phosphorylation in patients' lymphocytes was markedly reduced. Interbreeding of the extl3-mutant zebrafish (box) with Tg(rag2:green fluorescent protein) transgenic zebrafish revealed defective thymopoiesis, which was rescued by injection of wild-type human EXTL3 RNA. Targeted differentiation of patient-derived induced pluripotent stem cells showed a reduced expansion of lymphohematopoietic progenitor cells and defects of thymic epithelial progenitor cell differentiation. These data identify EXTL3 mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development.

  13. Indirect composite resin crowns as an esthetic approach to treating ectodermal dysplasia: a case report.

    PubMed

    Ellis, R K; Donly, K J; Wild, T W

    1992-11-01

    This article presents a case report describing the indirect fabrication of composite resin crowns for the restoration of primary anterior teeth. A 3-year-old with a confirmed diagnosis of hypohidrotic ectodermal dysplasia was provided with composite resin crowns that were both esthetic and functional. The indirect method decreases clinical time, provides a durable restoration, and allows treatment of patients who lack the cooperative ability to endure prolonged direct bonding appointments. The indirect technique may be feasible for the restoration of carious teeth as well as the presented case.

  14. Right Ventricular Cardiomyopathy Meeting the Arrhythmogenic Right Ventricular Dysplasia Revised Criteria? Don't Forget Sarcoidosis!

    PubMed Central

    Vasaturo, Sabina; Ploeg, David E.; Buitrago, Guadalupe; Zeppenfeld, Katja; Veselic-Charvat, Maud

    2015-01-01

    A 53-year-old woman was referred for ventricular fibrillation with resuscitation. A CT-angiography showed signs of a right ventricular enlargement without obvious cause. A cardiac MRI demonstrated a dilated and hypokinetic right ventricle with extensive late gadolinium enhancement. Arrhythmogenic right ventricular dysplasia (ARVD) was suspected according to the "revised ARVD task force criteria". An endomyocardial biopsy was inconclusive. The patient developed purulent pericarditis after epicardial ablation therapy and died of toxic shock syndrome. The post-mortem pathologic examination demonstrated sarcoidosis involving the heart, lungs, and thyroid gland. PMID:25995699

  15. Osteofibrous dysplasia-like adamantinoma in a 3-month-old male infant: a case report.

    PubMed

    Buldu, Halil; Centel, Tuncay; Kırımlıoğlu, Hale; Dirik, Yalın

    2015-01-01

    We report a case of a very rarely seen osteofibrous dysplasia-like adamantinoma (OFDLA) of the lower leg in a 3-month-old male infant, making it the youngest case in the literature. OFDLA is typically regarded as a benign lesion; however, due to its convertibility into classical adamantinoma, it is recommended to evaluate it as a pre-malignant lesion. After OFDLA diagnosis with biopsy, our case underwent surgical resection and reconstruction with a large allograft. Patient experienced good outcomes and did not experience any local relapse in the 3-year follow-up.

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

    MedlinePlus

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

  17. Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course.

    PubMed

    Isidor, Bertrand; Hamel, Antoine; Plasschaert, Frank; Claus, Lieve; Mercier, Jacques-Marie; Mortier, Geert R; Leroy, Jules G; Verloes, Alain; David, Albert

    2009-10-01

    Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and ureteral anomalies. Since the original reports in 1995, two other patients have been described with this syndrome, one of them the patient reported in 1998 by Day-Salvatore. In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-David-Pfeiffer syndrome (VDPS) is a progressive skeletal disorder that despite repeated corrective surgical intervention leads to severe limb deformities. No mutations were detected in the FLNB gene. To date, the cause and the pathogenesis of VDPS remain unknown. The latter is characterized in this study as a syndromic type of skeletal dysplasia because besides congenital malformations and multiple acromelic synostoses arising prenatally, VDPS manifests in postnatal life as a severe osteochondrodysplasia.

  18. Comparative study of the endoscope-based bevelled and volume fiber-optic Raman probes for optical diagnosis of gastric dysplasia in vivo at endoscopy.

    PubMed

    Wang, Jianfeng; Lin, Kan; Zheng, Wei; Ho, Khek Yu; Teh, Ming; Yeoh, Khay Guan; Huang, Zhiwei

    2015-11-01

    This study aims to compare the diagnostic performance of the two different endoscope-based fiber-optic Raman probe designs (i.e., bevelled and volume Raman probes) for real-time, in vivo detection of gastric dysplasia at endoscopy. To conduct the clinical comparison, a total of 1,050 in vivo tissue Raman spectra (normal: n = 864; dysplasia: n = 186) were acquired from 66 gastric patients (normal: n = 48; dysplasia: n = 18) by using bevelled Raman probe, while a total of 1,913 in vivo tissue Raman spectra (normal: n = 1,786; dysplasia: n = 127) were acquired from 98 gastric patients (normal: n = 87; dysplasia: n = 11) by using volume Raman probe. The bevelled Raman probe provides approximately twofold improvements in tissue Raman-to-autofluorescence intensity ratios as compared to the use of volume Raman probe. Partial least squares discriminant analysis together with leave-one patient-out cross-validation on in vivo tissue Raman spectra acquired yields a diagnostic accuracy of 93.0 % (sensitivity of 92.5 %; specificity of 93.1 %) for differentiating gastric dysplasia from normal gastric tissue by using the bevelled fiber-optic Raman probe, which is superior to the diagnostic performance (accuracy of 88.4 %; sensitivity of 85.8 %; specificity of 88.6 %) by using the volume Raman probe. This work demonstrates that the Raman spectroscopic technique coupled with bevelled fiber-optic Raman probe has great potential to enhance in vivo diagnosis of gastric precancer and early cancer at endoscopy. Graphical Abstract Comparison of in vivo gastric tissue Raman spectra acquired by using bevelled and volume fiber-optic Raman probes.

  19. MicroRNA-196a Is a Potential Marker of Progression during Barrett’s Metaplasia-Dysplasia-Invasive Adenocarcinoma Sequence in Esophagus

    PubMed Central

    Maru, Dipen M.; Singh, Rajesh R.; Hannah, Christina; Albarracin, Constance T.; Li, Yong X.; Abraham, Ronald; Romans, Angela M.; Yao, Hui; Luthra, Madan G.; Anandasabapathy, Sharmila; Swisher, Stephen G.; Hofstetter, Wayne L.; Rashid, Asif; Luthra, Rajyalakshmi

    2009-01-01

    Barrett’s esophagus (BE)/Barrett’s metaplasia (BM) is a recognized precursor of esophageal adenocarcinoma (EA) with an intermediary stage of dysplasia. The low yield and high cost of endoscopic screening of patients with BE underscores the need for novel biomarkers, such as microRNA (miRNA), which have emerged as important players in neoplastic progression for risk assessment of developing dysplasia/adenocarcinoma. Recently, we reported highly elevated levels of miRNA-196a (miR-196a) in EA and demonstrated its growth-promoting and anti-apoptotic functions. Here, we evaluated miR-196a as a marker of BE progression to low-grade dysplasia, high-grade dysplasia, and EA using microdissected paraffin-embedded tissues from 11 patients. Higher levels of miR-196a were observed in EA, BE, and dysplastic lesions compared with normal squamous mucosa, and in high-grade dysplasia compared with BE and low-grade dysplasia. Using frozen tumor tissues from 10 additional patients who had advanced EA, we evaluated the correlation of miR-196a with its in silico-predicted targets, keratin 5 (KRT5), small proline-rich protein 2C (SPRR2C), and S100 calcium-binding protein A9 (S100A9), which are down-regulated during BE progression. MiR-196a levels inversely correlated with the predicted target mRNA levels in EA. We confirmed that miR-196a specifically targets KRT5, SPRR2C, and S100A9 3′ UTRs using miR-196a-mimic and luciferase reporter-based assays. In conclusion, this study identified miR-196a as a potential marker of progression of BE and KRT5, SPRR2C, and S100A9 as its targets. PMID:19342367

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

    DTIC Science & Technology

    2007-12-01

    a distinctive osseous lesion such as sphenoid wing dysplasia, or thinning of long bone cortex with or without pseudarthrosis”. Upon review of...scoliosis, sphenoid wing dysplasia, long bone dysplasia, bone cysts, and shorter than expected stature for familial background.4,5 Probably the most...osseous lesion such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudarthrosis.” The wording for this criterion is misleading

  1. HER-2 overexpression/amplification in Barrett's oesophagus predicts early transition from dysplasia to adenocarcinoma: a clinico-pathologic study.

    PubMed

    Rossi, Elisa; Grisanti, Salvatore; Villanacci, Vincenzo; Della Casa, Domenico; Cengia, Paolo; Missale, Guido; Minelli, Luigi; Buglione, Michela; Cestari, Renzo; Bassotti, Gabrio

    2009-09-01

    Barrett's oesophagus (BO) is the primary precursor lesion for oesophageal adenocarcinoma (ADC). The natural history of metaplasia-dysplasia-carcinoma sequence remains largely unknown. HER2/neu oncogene results overexpressed/amplified in preneoplastic lesions and in ADC of the oesophagus and it has been associated with poor prognosis. Our aim was to evaluate the role of HER2 overexpression/amplification in predicting the conversion from precursor lesions to ADC. We retrospectively evaluated by univariate analysis of single variables clinical records and histological specimens of 21 patients with a confirmed diagnosis of BO and/or oesophageal dysplasia. Clinical variables included age, gender, alcohol and smoking intake, presence of symptoms (pyrosis, disphagia) and endoscopic features (length). HER2 status was studied by immunohistochemistry and fluorescence in situ hybridization (FISH) on paraffin-embedded tissue. The end-points were the occurrence of progression and the time-to-progression (TTP) from the initial histologic lesion to the worst pathological pattern. Median age at diagnosis was 63 years (range 37-84). BO median length was 4.5 cm. Progression occurred in 11 of 21 patients and median TTP was 24 months. HER2 was overexpressed/amplified in 8 of 21 (38%) patients. HER2 overexpression/ amplification and the presence of dysplasia were statistically associated with progression (P= 0.038). This study provides evidence for a possible role of HER2 in the transition from dysplasia to ADC of the oesophagus. This fact could help in identifying patients at high risk of malignant transformation.

  2. A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

    PubMed Central

    Kusano, Chieko; Takagi, Masaki; Hori, Naoaki; Murotsuki, Jun; Nishimura, Gen; Hasegawa, Tomonobu

    2017-01-01

    Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of COL2A1. This case suggests that a COL2A1 C-propeptide mutation can cause atypical SEDC. PMID:28265456

  3. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia.

    PubMed

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

    2008-01-01

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

  4. Hip instability: a review of hip dysplasia and other contributing factors

    PubMed Central

    Kraeutler, Matthew J.; Garabekyan, Tigran; Pascual-Garrido, Cecilia; Mei-Dan, Omer

    2016-01-01

    Summary Background Hip instability has classically been associated with developmental dysplasia of the hip (DDH) in newborns and children. However, numerous factors may contribute to hip instability in children, adolescents, and adults. Purpose This review aims to concisely present the literature on hip instability in patients of all ages in order to guide health care professionals in the appropriate diagnosis and treatment of the various disorders which may contribute to an unstable hip. Methods We reviewed the literature on the diagnosis and surgical management of hip dysplasia and other causes of hip instability. Conclusions Multiple intra- and extra-articular variables may contribute to hip instability, including acetabular bony coverage, femoral torsion, femoroacetabular impingement, and soft tissue laxity. Physical examination and advanced imaging studies are essential to accurately diagnose the pathology contributing to a patient’s unstable hip. Conservative management, including activity modification and physical therapy, may be used as a first-line treatment in patients with intra-articular hip pathology. Patients who continue to experience symptoms of pain or instability should proceed with arthroscopic or open surgical treatment aimed at correcting the underlying pathology. Level of evidence V. PMID:28066739

  5. Is there an overlap between Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy/dysplasia?

    PubMed Central

    Riera, Andrés Ricardo Pérez; Antzelevitch, Charles; Schapacknik, Edgardo; Dubner, Sergio; Ferreira, Celso

    2006-01-01

    The Brugada syndrome is a congenital syndrome displaying an autosomal dominant mode of transmission in patients with a structurally normal heart. The disease has been linked to mutations in SCN5A, a gene located on the short arm of chromosome 3 (p21-24) that encodes for the α subunit of the sodium channel. The syndrome is characterized by a dynamic ST-segment elevation (accentuated J wave) in leads V1 to V3 of the ECG followed by negative T wave. Right bundle-branch block of varying degrees is observed in some patients. The syndrome is associated with syncope and a relatively high incidence of sudden cardiac death secondary to the development of polymorphic ventricular tachycardia that may degenerate into ventricular fibrillation. An acquired form of the Brugada syndrome is also recognized, caused by a wide variety of drugs and conditions that alter the balance of currents active during the early phases of the action potential. Among patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia, there is a subpopulation with a clinical and electrocardiographic pattern similar to that of the Brugada syndrome. These cases of arrhythmogenic right ventricular cardiomyopathy/dysplasia are thought to represent an early or concealed form of the disease. This review examines the overlap between these 2 syndromes. PMID:16003713

  6. [Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].

    PubMed

    Silve, Caroline

    2016-01-01

    Acrodysostosis refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsa, as observed in PHP1a. Defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR-Gsa-cAMP-PKA signaling, were recently identified in patients affected with acrodysostosis. This has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: acrodysostosis type 1 due to PRKAR1A defects, and acrodysostosis type 2, due to PDE4D defects. The existence of hormone resistance is typical of the acrodysostosis type 1 syndrome. We discuss here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, in particular in regard to phenotypically related diseases caused by Gsa gene defects in the same signaling pathway.

  7. “Well Digging” Subcraniotomy Strategy with Navigation for Optic Nerve Decompression in Frontoorbital Fibrous Dysplasia: Preliminary Experience

    PubMed Central

    Lu, Yunhe; Yang, Junyi; Wu, Yingzhi; Pan, Sida; Lu, Jiawen

    2016-01-01

    Background: During the past decades, surgical intervention has been the primary treatment modality for frontoorbital fibrous dysplasia involving optic nerve. However, controversy has surrounded the role of optic nerve decompression in a number of ways. Herein, we describe 3 patients with frontoorbital fibrous dysplasia involving optic nerve, who underwent a “well digging” subcraniotomy strategy with navigation for intraorbital unit optic nerve decompression. Methods: From 2013 to 2015, 3 patients with frontoorbital fibrous dysplasia were investigated in a retrospective manner. They underwent unilateral intraorbital optic nerve decompression with the help of “well digging” strategy and navigation. The key procedures comprise preoperative software simulation, frontoorbital subcraniotomy (like digging a well), expanding cone-shaped surgical field, intraorbital unit optic nerve decompression with navigation, correcting frontal-orbital dystopias, and deformities. Results: Both at the immediate postoperative period and during the 3–12 months follow-up, 2 cases showed improvement of visual acuity in the affected eye and 1 case showed no deterioration. Other ocular examinations including eye movement were stable. Subsequent reconstruction yielded a satisfactory cosmetic result. No postoperative complications happened. Conclusions: In our philosophy, surgical management should be tailored to each patient, which is based on the most possible potential etiology. We consider that the intraorbital optic nerve decompression may be more feasible and safer with the help of “well digging” strategy and navigation, especially for those with exophthalmos, orbital volume decreasing, and nonacute visual loss. PMID:27975011

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

    PubMed

    Tortoledo, Maria; Galindo, A; Ibarrola, C

    2010-01-01

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

  9. Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates

    PubMed Central

    İpek, Mehmet Sah; Akgul Ozmen, Cihan

    2016-01-01

    Abstract Skeletal dysplasias are a heterogeneous group of conditions associated with various abnormalities of the skeleton. Some of them are perinatally lethal and can be diagnosed at birth. Lethality is usually due to thoracic underdevelopment and lung hypoplasia. A correct diagnosis and typing of the skeletal disorder is essential for the prognosis as is genetic counseling of the family. A retrospective review of 12 cases of clinico-radiologic diagnosis of skeletal dysplasia, leading to thoracic insufficiency, was conducted. We aimed to make differential diagnosis with special emphasis on radiological findings, and to emphasize the importance of parental counseling. PMID:27057899

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

    SciTech Connect

    Wilkin, D.J.; Rimoin, D.L.; Cohn, D.H.

    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.

  11. Amolimogene bepiplasmid, a DNA-based therapeutic encoding the E6 and E7 epitopes from HPV, for cervical and anal dysplasia.

    PubMed

    Alvarez-Salas, Luis M

    2008-12-01

    MGI Pharma Biologics is developing amolimogene bepiplasmid as a potential therapy for HPV-associated diseases, including cervical dysplasia. Amolimogene bepiplasmid is a polymer-encapsulated DNA vaccine consisting of a plasmid expressing a chimeric peptide comprising immunogenic hybrid epitopes from HPV-16 and HPV-18 E6 and E7 proteins and an HLA-DRalpha intracellular trafficking peptide. In phase I and I/II clinical trials of ZYC-101 (the precursor of amolimogene bepiplasmid containing a single epitope from HPV-16 E7) in patients with cervical dysplasia and patients with anal dysplasia, ZYC-101 produced significant histological regression and was safe and well tolerated. Results from this trial led to a phase II clinical trial of amolimogene bepiplasmid in patients with cervical dysplasia. This phase II trial demonstrated that treatment with amolimogene bepiplasmid resolution of disease was not significantly superior to placebo except in the predefined group of women who were less than 25 years of age. A phase II/III clinical trial was ongoing at the time of publication examining amolimogene bepiplasmid in this patient population.

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

    PubMed

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

    2016-05-01

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

  13. Repeat surgery for focal cortical dysplasias in children: indications and outcomes.

    PubMed

    Sacino, Matthew F; Ho, Cheng-Ying; Whitehead, Matthew T; Kao, Amy; Depositario-Cabacar, Dewi; Myseros, John S; Magge, Suresh N; Keating, Robert F; Gaillard, William D; Oluigbo, Chima O

    2017-02-01

    OBJECTIVE Focal cortical dysplasia (FCD) is a common cause of medically intractable epilepsy that often may be treated by surgery. Following resection, many patients continue to experience seizures, necessitating a decision for further surgery to achieve the desired seizure outcomes. Few studies exist on the efficacy of reoperation for intractable epilepsy due to FCD in pediatric cohorts, including the definition of prognostic factors correlated with clinical benefit from further resection. METHODS The authors retrospectively analyzed the medical records and MR images of 22 consecutive pediatric patients who underwent repeat FCD resection after unsuccessful first surgery at the Children's National Health System between March 2005 and April 2015. RESULTS Accounting for all reoperations, 13 (59%) of the 22 patients achieved complete seizure freedom and another 5 patients (23%) achieved significant improvement in seizure control. Univariate analysis demonstrated that concordance in electrocorticography (ECoG) and MRI localization (p = 0.005), and completeness of resection (p = 0.0001), were associated with seizure freedom after the first reoperation. Patients with discordant ECoG and MRI findings ultimately benefited from aggressive multilobe lobectomy or hemispherectomy. Repeat lesionectomies utilizing intraoperative MRI (iMRI; n = 9) achieved complete resection and seizure freedom in all cases. CONCLUSIONS Reoperation may be clinically beneficial in patients with intractable epilepsy due to FCD. Patients with concordant intraoperative ECoG and MRI localization may benefit from extended resection of residual dysplasia at the margins of the previous lesional cavity, and iMRI may offer benefits as a quality control mechanism to ensure that a complete resection has been accomplished. Patients with discordant findings may benefit from more aggressive resections at earlier stages to achieve better seizure control and ensure functional plasticity.

  14. Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia

    PubMed Central

    Sidhu, Manpreet; Kale, Alka D; Kotrashetti, Vijayalakshmi S

    2012-01-01

    Background: Hereditary ectodermal dysplasia is a genetic recessive trait characterized by hypohydrosis, hypotrichosis, and hypodontia. The affected individual show characteristic physiognomy like protruded forehead, depressed nasal bridge, periorbital wrinkling, protruded lips, etc. There is marked decrease in sweat and salivary secretion. Due to skin involvement palm and sole ridge patterns are disrupted. Aim: In this study an attempt has been made to classify the affected members according to the degree of penetrance by pedigree analysis and also study karyotyping for cytogenetics, dermatoglyphic analysis for the various ridge patterns and variations in the number of sweat glands by sweat pore analysis in affected individuals. Materials and Methods: A total of five families who were affected with ectodermal dysplasia were considered. Pedigree analysis was drawn up to three generation by obtaining history. Dermatoglyphics and sweat pore analysis was done by obtaining palm and finger print impression using stamp pad ink. Karyotyping was done by collecting 3–5 ml peripheral blood. Karyotyping was prepared using lymphocyte culture. Chromosomes were examined at 20 spreads selected randomly under ×100 magnification. Results were analyzed by calculating mean values and percentage was obtained. Results: Karyotyping did not show any abnormalities, dermatoglyphic analysis and sweat pore counts showed marked variations when compared with normal. Moreover, pedigree analysis confirmed the status of the disease as that of the recessive trait. Conclusion: Large number of affected patients needs to be evaluated for dermatoglypic analysis. Genetic aspect of the disease needs to be looked into the molecular level in an attempt to locate the gene locus responsible for ectodermal dysplasia and its manifestation. PMID:23248471

  15. Crypt dysplasia in Barrett's oesophagus shows clonal identity between crypt and surface cells.

    PubMed

    Khan, Shabuddin; McDonald, Stuart A C; Wright, Nicholas A; Graham, Trevor A; Odze, Robert D; Rodriguez-Justo, Manuel; Zeki, Sebastian

    2013-09-01

    Epithelial dysplasia is an important histological diagnosis signifying the presence of pre-invasive disease, usually needing intervention. However, the specific genetic changes responsible for the induction of this phenotypic change are unknown. Moreover, recent reports indicate that the dysplastic phenotype may not be immutable: in basal crypt dysplasia (CD), unequivocal dysplastic changes are seen in the crypts in Barrett's oesophagus and other pre-invasive lesions in the gastrointestinal tract, but the upper crypts and surface epithelium associated with these dysplastic crypts show the definitive morphology of a differentiated epithelium. The genotypic relationship between CD and the differentiated surface epithelium is presently unclear. We obtained 17 examples of CD: the lower and upper crypts and surface epithelium were differentially laser-microdissected from formalin-fixed, paraffin-embedded sections and mutations were sought in tumour suppressor genes frequently associated with progression in Barrett's oesophagus. We found two patients who both showed a c. C238T mutation in the CDKN2A (CDKN2AInk4A) gene and where the precise microanatomical relationships could be discerned: this mutation was present in both the CD at the crypt base and in the upper crypt and surface epithelium. We conclude that, in CD, the dysplastic basal crypt epithelium and the upper crypt and surface epithelium show clonal CDKN2A mutations, thus showing definitively that the surface epithelium is derived from the dysplastic crypt epithelium: the dysplastic phenotype is therefore not fixed and can be reversed. The mechanism of this change is unclear but may be related to the possibility that dysplastic cells can, probably early in their progression, respond to differentiation signals. However, it is also clear that a heavy mutational burden can be borne by crypts in the gastrointestinal tract without the development of phenotypic dysplasia. We are evidently some way from understanding

  16. Myocardial dysplasia in a 3rd-trimester fetus. An ultrasound and pathologic study.

    PubMed Central

    Paladini, D; Russo, M; Palmieri, S; Pacileo, G; Caruso, G; Ianniruberto, A; Martinelli, P; Calabrò, R

    1997-01-01

    Arrested myocardial development, often described as spongiosum heart, has been reported in association with obstructive semilunar valve disease and, much more rarely, as a primary disease in adolescents and adults. To our knowledge, this condition has never been diagnosed in utero. We describe the echocardiographic and pathoanatomic findings of the 1st case of myocardial dysplasia detected in utero by ultrasound. A 28-year-old woman, gravida 2, para 1, was referred to our unit at 34 weeks of gestation due to severe fetal hydrops. On echocardiography, we observed gross fetal cardiomegaly (particularly of the septal and ventricular myocardium), an unusually bright myocardial echostructure, thick trabeculations in both ventricular chambers, and severe loss of myocardial contraction. There were normal ventriculoarterial connections and no signs of obstructive semilunar valve disease. After fetal death, necropsy confirmed the presence of spongiosum heart and the diagnosis of myocardial dysplasia--which term best describes this disorder in its various temporal expressions. Because this condition has never before been observed prenatally, no consideration has been given to intrauterine management. We recommend that fetal cardiac function be monitored echocardiographically whenever a pregnant patient has a positive family history of this disease. There is a possibility that the life of the affected fetus might be prolonged beyond the gestational period by avoiding intrauterine cardiac decompensation, through early delivery. We recommend further that the parents of these children be advised of the risks associated with future pregnancies. Little is known about the pattern of inheritance of myocardial dysplasia, but the disorder appears to be familial. Therefore, the possibility that it may recur within the same generation must be taken into account. Images PMID:9068140

  17. [Partial regression of Barret esophagus with high grade dysplasia and adenocarcinoma after photocoagulation and endocurietherapy under antisecretory treatment].

    PubMed

    Fremond, L; Bouché, O; Diébold, M D; Demange, L; Zeitoun, P; Thiefin, G

    1995-01-01

    Barrett's oesophagus is a premalignant condition. The possibility of eradicating at least partially the metaplastic epithelium has been reported recently. In this case report, a patient with Barrett's oesophagus complicated by high grade dysplasia and focal adenocarcinoma was treated by Nd:Yag laser then high dose rate intraluminal irradiation while on omeprazole 40 mg/day. A partial eradication of Barrett's oesophagus and a transient tumoural regression were obtained. Histologically, residual specialized-type glandular tissue was observed beneath regenerative squamous epithelium. Four months after intraluminal irradiation, a local tumoural recurrence was detected while the area of restored squamous epithelium was unchanged on omeprazole 40 mg/day. This indicates that physical destruction of Barrett's oesophagus associated with potent antisecretory treatment can induce a regression of the metaplastic epithelium, even in presence of high grade dysplasia. The persistence of specialized-type glands beneath the squamous epithelium raises important issues about its potential malignant degeneration.

  18. Odontogenic Sinusitis Caused by an Inflammation of a Dentigerous Cyst and Subsequent Finding of a Fibrous Dysplasia. A Case Report

    PubMed Central

    López-Carriches, Carmen; López-Carriches, Inmaculada; Bryan, Rafael Baca-Perez

    2016-01-01

    We report the case of a 38-year old male patient with sinusitis caused by an infected follicular cyst due to an ectopic impacted third molar in the right maxillary sinus. A 10-day antibiotherapy regimen was administered; subsequently, the cyst and the third molar were removed achieving complete recovery. Fibrous dysplasia was diagnosed at follow-up examination (occupation of the maxillary sinus by bone tissue was observed in a radiographic examination) and confirmed by biopsy. In cases of odontogenic sinusitis, thorough examination is crucial, as evidenced by the case reported in this study. A Literature review was performed in order to identify the diagnostic methods currently available and the clinical features, complications and treatment for both, odontogenic maxillary sinusitis and fibrous dysplasia. PMID:28077969

  19. Chiropractic Management of Low Back Pain in a 75-Year-Old Man With Bilateral Developmental Hip Dysplasia

    PubMed Central

    Murray, Kelvin J.; Azari, Michael F.

    2015-01-01

    Objective The purpose of this case report is to describe chiropractic management of an elderly man with untreated bilateral hip joint dysplasia presenting with mild acute mechanical low back pain. Clinical Features A 75-year-old man presented with an insidious-onset intermittent low back pain of 3 days’ duration. Physical examination findings supported a mechanical cause for mild acute low back pain. Plain radiography revealed dysplasia of hip joints with absence of femoral heads and necks and bilateral high dislocation. Intervention and Outcome Chiropractic management included vibration, mobilization, light drop-piece adjustments of the lower lumbar and sacroiliac joints, and recommendation of the use of heat at home. Treatments were given 3 times over the course of 1 week. The low back pain intensity over this period dropped from 5 to 0 on an 11-point numerical rating scale, and the patient was discharged. Conclusion This patient with substantial postural and gait abnormalities as a result of severe bilateral hip dysplasia associated with an unusual pattern of osteoarthritic change in the spine responded favorably to a short course of chiropractic care. PMID:26644785

  20. Real-time depth-resolved Raman endoscopy for in vivo diagnosis of dysplasia in Barrett's esophagus

    NASA Astrophysics Data System (ADS)

    Bergholt, Mads Sylvest; Zheng, Wei; Ho, Khek Yu; Yeoh, Khay Guan; Teh, Ming; So, Jimmy Bok Yan; Huang, Zhiwei

    2013-03-01

    Raman spectroscopy is a vibrational analytic technique sensitive to the changes in biomolecular composition and conformations occurring in tissue. With our most recent development of depth-resolved near-infrared (NIR) Raman endoscopy integrated with on-line diagnostic algorithms, in vivo real-time epithelial diagnostics has been realized under multimodal wide-field imaging (i.e., white- light reflectance (WLR), narrow-band imaging (NBI), autofluorescence imaging (AFI)) modalities. A selection of 43 patients who previously underwent Raman endoscopy (n=146 spectra) was used to render a robust model based on partial least squares - discriminant analysis (PLS-DA) for diagnosis of dysplasia in Barrett's esophagus. The Raman endoscopy technique was validated prospectively on 2 new esophageal patients for in vivo tissue diagnosis. The Raman endoscopic technique could identify esophageal high-grade dysplasia in vivo with an accuracy of 85.9% (sensitivity: 91.3% (21/23): specificity 83.3% (40/48)) on spectrum basis. This study realizes for the first time depth-resolved Raman endoscopy for real-time in vivo diagnosis of dysplasia in Barrett's epithelium at the biomolecular level.

  1. Outcome of "indefinite for dysplasia" in inflammatory bowel disease: correlation with DNA flow cytometry and other risk factors of colorectal cancer.

    PubMed

    Choi, Won-Tak; Rabinovitch, Peter S; Wang, Dongliang; Westerhoff, Maria

    2015-07-01

    Dysplasia that develops in the setting of inflammatory bowel disease precedes colorectal cancer (CRC). The category of "indefinite for dysplasia (IND)" is used often in equivocal cases, but its clinical significance remains unclear. Flow cytometric analysis of DNA content (aneuploidy) has shown some promise in stratifying patients into low or high risk of CRC, but there are few reports that have specifically evaluated the outcome of IND. As such, we analyzed a series of 84 IND inflammatory bowel disease patients seen at the University of Washington and Harborview Medical Centers from 2003 to 2013 to determine the outcome of IND. Hospital electronic medical records were further reviewed to correlate outcome with the type of lesion (flat versus polypoid), primary sclerosing cholangitis, active inflammation in the area of IND, and DNA flow cytometric data. The data show that 13% of IND cases were found to have low-grade dysplasia, whereas only 2% of IND cases showed advanced neoplasia (high-grade dysplasia or CRC) after a mean follow-up of 28 months. The risk of neoplasia was not significantly associated with the type of lesion (P = .94 from log-rank test), primary sclerosing cholangitis (P = .94), or active inflammation (P = .41) in this cohort. However, the finding of DNA aneuploidy at baseline IND was predictive of subsequent detection of neoplasia (P = .037). IND patients with abnormal DNA flow cytometric results may warrant more careful follow-up, but conversely, IND in the setting of normal DNA content may require less frequent surveillance colonoscopy.

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

    PubMed Central

    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

  3. Genetics Home Reference: SOST-related sclerosing bone dysplasia

    MedlinePlus

    ... hearing loss, vision loss, and a sense of smell that is diminished (hyposmia) or completely absent (anosmia). ... Bone Dysplasias MedlinePlus Encyclopedia: Facial Paralysis MedlinePlus Encyclopedia: Smell--Impaired General Information from MedlinePlus (5 links) Diagnostic ...

  4. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

    Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the…

  5. Ectodermal dysplasias: A clinical classification and a causal review

    SciTech Connect

    Pinheiro, M.; Freire-Maia, N.

    1994-11-01

    The authors present a causal review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X-linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion.

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

    ERIC Educational Resources Information Center

    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…

  7. Infected florid osseous dysplasia: clinical and imaging follow-up

    PubMed Central

    Mufeed, Abdulla; Mangalath, Ummar; George, Antony; Hafiz, Abdul

    2015-01-01

    Florid osseous dysplasia (FOD) is a rare fibro-osseous lesion of the jaw usually identified incidentally on radiograph. It rarely presents with clinical symptoms. A case of FOD presenting with features similar to osteomyelitis is discussed here. The diagnosis is based on radiographic findings; biopsy or surgical intervention should be avoided as it may predispose to infection. PMID:25754168

  8. POSTNATAL INFLAMMATION IN THE PATHOGENESIS OF BRONCHOPULMONARY DYSPLASIA

    PubMed Central

    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

  9. Outcomes of oral squamous cell carcinoma arising from oral epithelial dysplasia: rationale for monitoring premalignant oral lesions in a multidisciplinary clinic.

    PubMed

    Ho, M W; Field, E A; Field, J K; Risk, J M; Rajlawat, B P; Rogers, S N; Steele, J C; Triantafyllou, A; Woolgar, J A; Lowe, D; Shaw, R J

    2013-10-01

    Surveillance of oral epithelial dysplasia results in a number of newly diagnosed cases of oral squamous cell carcinoma (SCC). The clinical stage of oral SCC at diagnosis influences the magnitude of treatment required and the prognosis. We aimed to document the stage, treatment, and outcome of oral SCC that arose in patients who were being monitored for oral epithelial dysplasia in a dedicated multidisciplinary clinic. Those with histologically diagnosed lesions were enrolled on an ethically approved protocol and molecular biomarker study. Details of clinical and pathological TNM, operation, radiotherapy, recurrence, second primary tumour, and prognosis, were recorded in patients whose lesions underwent malignant transformation. Of the 91 patients reviewed (median follow-up 48 months, IQR 18-96), 23 (25%) had malignant transformation. All were presented to the multidisciplinary team with stage 1 disease (cT1N0M0). Of these, 21 were initially treated by wide local excision, 2 required resection of tumour and reconstruction, and 2 required adjuvant radiotherapy. At follow-up 3 had local recurrence, one had regional recurrence, one had metachronous lung cancer, and 5 had second primary oral SCC. There were further diagnoses of oral dysplasia in 5 during follow-up, and it is estimated that 76% of patients will have one or other event in 5 years. Disease-specific survival was 100% and overall survival was 96% (22/23). Median follow-up after diagnosis of oral SCC was 24 months (IQR 11-58). Specialist monitoring of oral epithelial dysplasia by a multidisciplinary team allows oral SCC to be detected at an early stage, and enables largely curative treatment with simple and usually minor surgical intervention. The high incidence of second primary oral SCC in high-risk patients with oral epithelial dysplasia further supports intensive targeted surveillance in this group.

  10. Dental perspectives in fibrous dysplasia and McCune-Albright syndrome.

    PubMed

    Akintoye, Sunday O; Boyce, Alison M; Collins, Michael T

    2013-09-01

    McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (FD), endocrine disorders, and café-au-lait skin pigmentation. Ninety percent of MAS patients have FD lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, bone pain, and compromised oral health. Maxillomandibular FD is also associated with dental developmental disorders, malocclusion, and high caries index. There are limited data on the outcomes of dental treatments in maxillomandibular FD/MAS patients, because clinicians and researchers have limited access to patients, and there are concerns that dental surgery may activate quiescent jaw FD lesions to grow aggressively. This report highlights current perspectives on dental management issues associated with maxillomandibular FD within the context of MAS.

  11. Spontaneous hepatic artery dissection—a rare presentation of fibromuscular dysplasia

    PubMed Central

    Su, Kevin Y.C.; Stanhope, Melanie L.; Kaufman, Brendan P.W.

    2016-01-01

    Fibromuscular dysplasia (FMD) is a rare condition that causes structural compromise of the blood vessel presenting either as an incidental radiological finding, dissection or stenosis usually of the renal or craniocervical arteries. Seldom, patients present with spontaneous dissection in visceral arteries and there are few reports of hepatic involvement. This report outlines the case of a 43-year-old female who presented with severe right upper quadrant pain with a subsequent diagnosis of FMD manifesting as spontaneous hepatic artery dissection. The patient was treated with conservative antiplatelet therapy and regular radiographic follow-up, decided by the treating team as no clear guidelines exist for management of this particular presentation of FMD. Surgical management is not currently recommended to this patient due to the risk of further dissection, but may be considered if there is severe haemodynamic compromise or refractory pain. PMID:28031848

  12. Dental Perspectives in Fibrous Dysplasia and McCune-Albright Syndrome

    PubMed Central

    Akintoye, Sunday O.; Boyce, Alison M.; Collins, Michael T.

    2013-01-01

    McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (PFD), endocrine disorders and café-au-lait skin pigmentation. Ninety percent of MAS patients have FD lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, bone pain and compromised oral health. Maxillo-mandibular FD is also associated with dental developmental disorders, malocclusion, and high caries index. There is limited data on the outcomes of dental treatments in maxillo-mandibular FD/MAS patients, because clinicians and researchers have limited access to patients, and there are concerns that dental surgery may activate quiescent jaw FD lesions to grow aggressively. This report highlights current perspectives on dental management issues associated with maxillo-mandibular FD within the context of MAS. PMID:23953425

  13. Frontal sinus mucocele in association with fibrous dysplasia: review and report of two cases.

    PubMed

    Derham, Chris; Bucur, Sorin; Russell, John; Liddington, Mark; Chumas, Paul

    2011-02-01

    We present two paediatric cases of fibrous dysplasia (FD) who presented to the craniofacial neurosurgical clinic with ophthalmological symptoms associated with sinus mucoceles. The first patient presented with a history of orbital cellulitis and an increasing bony swelling around the orbit associated with proptosis. Radiological imaging revealed monostotic FD associated with an obstructive mucocele in the frontal sinus with extension into the orbit. The second patient presented with recurrent conjunctivitis, painful proptosis, rhinitis and a bony peri-orbital swelling. Both patients had histological diagnoses of frontal mucoceles invading the orbit in association with FD. They both underwent frontal craniotomies and excision of the mucocele/fibrous dysplastic complex. In summary, mucocele development is an unusual complication of FD, likely to occur secondary to occlusion of the sinus drainage system. Orbital involvement may lead to visual disturbance caused by pressure effects. A multi-disciplinary approach including maxillofacial surgeons, plastic surgeons and neurosurgeons is advocated.

  14. Nucleic acid-sensing toll-like receptors 3, 7 and 8 in esophageal epithelium, barrett’s esophagus, dysplasia and adenocarcinoma

    PubMed Central

    Helminen, Olli; Huhta, Heikki; Lehenkari, Petri P.; Saarnio, Juha; Karttunen, Tuomo J.; Kauppila, Joonas H.

    2016-01-01

    ABSTRACT Toll-like receptors (TLRs) are immunological receptors recognizing various microbial and endogenous ligands, such as DNA, RNA, and other microbial and host components thus activating immunological responses. The expression of TLRs in esophageal adenocarcinoma is not well known. The aim of this study was to evaluate expression patterns of those TLRs that sense nucleic acids in Barrett’s esophagus with and without dysplasia and in esophageal adenocarcinoma. TLRs 3, 7 and 8 were stained immunohistochemically and evaluated in a cohort of patients with esophageal adenocarcinoma or dysplasia. Specimens with normal esophagus (n = 88), gastric (n = 67) or intestinal metaplasia (n = 51) without dysplasia, and low-grade (n = 42) or high-grade dysplasia (n = 37) and esophageal adenocarcinoma (n = 99) were studied. We used immunofluorescence to confirm the subcellular localization of TLRs. We found abundant expression of TLR3, 7 and 8 in esophageal squamous epithelium, columnar metaplasia, dysplasia and adenocarcinoma. Cytoplasmic expression of TLR3, TLR7 or TLR8 did not associate to clinicopathological parameters or prognosis in esophageal cancer. High nuclear expression of TLR8, confirmed with immunofluorescence, in cancer cells was observed in tumors of high T-stage (p < 0.01) and in tumors with organ metastasis (p < 0.001). High nuclear TLR8 expression was associated with poor prognosis (p < 0.001). The expression of TLR3, TLR7 and TLR8 increased toward dysplasia and adenocarcinoma. We demonstrated nuclear localization of TLR8, which associates with metastasis and poor prognosis. TLR3 and TLR7 do not seem to have prognostic significance in esophageal adenocarcinoma. PMID:27467941

  15. Photodynamic therapy vs radiofrequency ablation for Barrett’s dysplasia: Efficacy, safety and cost-comparison

    PubMed Central

    Ertan, Atilla; Zaheer, Irum; Correa, Arlene M; Thosani, Nirav; Blackmon, Shanda H

    2013-01-01

    AIM: To compare effectiveness, safety, and cost of photodynamic therapy (PDT) and radiofrequency ablation (RFA) in treatment of Barrett’s dysplasia (BD). METHODS: Consecutive case series of patients undergoing either PDT or RFA treatment at single center by a single investigator were compared. Thirty-three patients with high-grade dysplasia (HGD) had treatment with porfimer sodium photosensitzer and 630 nm laser (130 J/cm), with maximum of 3 treatment sessions. Fifty-three patients with BD (47 with low-grade dysplasia -LGD, 6 with HGD) had step-wise circumferential and focal ablation using the HALO system with maximum of 4 treatment sessions. Both groups received proton pump inhibitors twice daily. Endoscopic biopsies were acquired at 2 and 12 mo after enrollment, with 4-quadrant biopsies every 1 cm of the original BE extent. A complete histological resolution response of BD (CR-D) was defined as all biopsies at the last endoscopy session negative for BD. Fisher’s exact test was used to assess differences between the two study groups for primary outcomes. For all outcomes, a two-sided P value of less than 0.05 was considered to indicate statistical significance. RESULTS: Thirty (91%) PDT patients and 39 (74%) RFA were men (P = 0.05). The mean age was 70.7 ± 12.2 and 65.4 ± 12.7 (P = 0.10) year and mean length of BE was 5.4 ± 3.2 cm and 5.7 ± 3.2 cm (P = 0.53) for PDT and RFA patients, respectively. The CR-D was (18/33) 54.5% with PDT vs (47/53) 88.7% with RFA (P = 0.001). One patient with PDT had an esophageal perforation and was managed with non-surgical measures and no perforation was seen with RFA. PDT was five times more costly than RFA at our institution. The two groups were not randomized and had different BD grading are the limitations of the study. CONCLUSION: In our experience, RFA had higher rate of CR-D without any serious adverse events and was less costly than PDT for endoscopic treatment of BD. PMID:24222954

  16. Common questions about developmental dysplasia of the hip.

    PubMed

    Jackson, Jonathan C; Runge, Melissa M; Nye, Nathaniel S

    2014-12-15

    Developmental dysplasia of the hip is a common musculoskeletal condition in newborns. Infants with developmental dysplasia of the hip, whether treated or untreated, have a higher incidence of early-onset hip osteoarthritis in adulthood. Evidence to support universal screening by physical examination or ultrasonography is limited and often conflicting. The U.S. Preventive Services Task Force found insufficient evidence that screening for developmental dysplasia of the hip prevents adverse outcomes. Physical examination screening is recommended by the American Academy of Pediatrics and the Pediatric Orthopaedic Society of North America. These organizations recommend use of the Ortolani and Barlow maneuvers to screen infants up to three months of age. Several recent studies support starting assessment for limited hip abduction at eight weeks of age, which is the most sensitive test for developmental dysplasia of the hip from this age on. Infants with overtly dislocated or dislocatable hips should be referred to an orthopedist on a priority basis at the time of diagnosis. Infants with equivocal hip examination findings at birth can be reexamined in two weeks. If there is subluxation or dislocation at the follow-up examination, referral should be made at that time. If the examination findings are still equivocal, the infant can undergo ultrasonography of the hips or be reexamined every few weeks through the first six weeks of life. Although equivocal findings commonly resolve spontaneously, infants with persistent equivocal findings of developmental dysplasia of the hip longer than six weeks should be evaluated by an orthopedist. Treatment generally involves flexion-abduction splinting. The benefits of treatment are unclear, and there are risks to treatment, most notably an increased occurrence of avascular necrosis of the femoral head.

  17. Abnormal Profiles of Local Functional Connectivity Proximal to Focal Cortical Dysplasias

    PubMed Central

    Besseling, René M. H.; Jansen, Jacobus F. A.; de Louw, Anton J. A.; Vlooswijk, Mariëlle C. G.; Hoeberigs, M. Christianne; Aldenkamp, Albert P.; Backes, Walter H.

    2016-01-01

    Introduction Focal cortical dysplasia (FCD) is a congenital malformation of cortical development that often leads to medically refractory epilepsy. Focal resection can be an effective treatment, but is challenging as the surgically relevant abnormality may exceed the MR-visible lesion. The aim of the current study is to develop methodology to characterize the profile of functional connectivity around FCDs using resting-state functional MRI and in the individual patient. The detection of aberrant connectivity may provide a means to more completely delineate the clinically relevant lesion. Materials and Methods Fifteen FCD patients (age, mean±SD: 31±11 years; 11 males) and 16 matched healthy controls (35±9 years; 7 males) underwent structural and functional imaging at 3 Tesla. The cortical surface was reconstructed from the T1-weighted scan and the registered functional MRI data was spatially normalized to a common anatomical standard space employing the gyral pattern. Seed-based functional connectivity was determined in all subjects for all dysplasia locations. A single patient was excluded based on an aberrant FCD seed time series. Functional connectivity as a function of geodesic distance (along the cortical surface) was compared between the individual patients and the homotopic normative connectivity profiles derived from the controls. Results In 12/14 patients, aberrant profiles of functional connectivity were found, which demonstrated both hyper- and hypoconnectivity as well as combinations. Abnormal functional connectivity was typically found (also) beyond the lesion visible on structural MRI, while functional connectivity profiles not related to a lesion appeared normal in patients. Conclusion This novel functional MRI technique has potential for delineating functionally aberrant from normal cortex beyond the structural lesion in FCD, which remains to be confirmed in future research. PMID:27861502

  18. McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report

    PubMed Central

    RAUS, IULIAN; COROIU, ROXANA ELENA

    2016-01-01

    McCune–Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level. The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune – Albright syndrome. PMID:27857528

  19. Developmental dysplasia of the hip: What has changed in the last 20 years?

    PubMed Central

    Kotlarsky, Pavel; Haber, Reuben; Bialik, Victor; Eidelman, Mark

    2015-01-01

    Developmental dysplasia of the hip (DDH) describes the spectrum of structural abnormalities that involve the growing hip. Early diagnosis and treatment is critical to provide the best possible functional outcome. Persistence of hip dysplasia into adolescence and adulthood may result in abnormal gait, decreased strength and increased rate of degenerative hip and knee joint disease. Despite efforts to recognize and treat all cases of DDH soon after birth, diagnosis is delayed in some children, and outcomes deteriorate with increasing delay of presentation. Different screening programs for DDH were implicated. The suspicion is raised based on a physical examination soon after birth. Radiography and ultrasonography are used to confirm the diagnosis. The role of other imaging modalities, such as magnetic resonance imaging, is still undetermined; however, extensive research is underway on this subject. Treatment depends on the age of the patient and the reducibility of the hip joint. At an early age and up to 6 mo, the main treatment is an abduction brace like the Pavlik harness. If this fails, closed reduction and spica casting is usually done. After the age of 18 mo, treatment usually consists of open reduction and hip reconstruction surgery. Various treatment protocols have been proposed. We summarize the current practice for detection and treatment of DDH, emphasizing updates in screening and treatment during the last two decades. PMID:26716085

  20. Trisomy 18 mosaicism in a woman with normal intelligence, pigmentary dysplasia, and an 18 trisomic daughter

    SciTech Connect

    Ukita, Masahiko; Hasegawa, Masaaki; Nakahori, Takashi

    1997-01-20

    Survival beyond the age of 10 years is rare among 18-trisomic individuals. Most of these long-term survivors, when more than one tissue is studied, are normal/trisomy mosaics. They are usually mentally severely retarded with a variety of anomalies. There is another group of mosaic individuals: 7 women and a 13-year-old girl, with a low frequency of 18-trisomic cells, normal or mildly retarded intelligence, and minor anomalies. Two of them were diagnosed after delivering malformed stillborn infants. One of them was the mother of a trisomy 18 patient who was coincidentally found to have trisomy 18 mosaicism. Pigmentary dysplasia, previously called hypomelanosis of Ito, is a disorder with linear, swirly, or patchy, hypo- or hyperpigmented areas of skin, resulting from migration and interaction of melanoblasts of different pigmentary potential. The disorder is often accompanied by mosaic chromosomal abnormalities, including mosaic trisomy 18. Here we report a 26-year-old woman with low frequency trisomy 18 mosaicism, normal intelligence, and pigmentary dysplasia, who gave birth to an 18-trisomic girl. 12 refs., 1 fig.

  1. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

    PubMed Central

    Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria

    2016-01-01

    Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS. PMID:26932191

  2. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

    PubMed

    Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria

    2016-08-01

    Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS.

  3. Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED).

    PubMed

    Hadj-Rabia, Smail; Jacob, Stéphane; Dufresne, Hélène; Mashiah, Jacob; Vaivre-Douret, Laurence; Bodemer, Christine

    2014-10-01

    Anhidrotic/hypohidrotic ectodermal dysplasia (HED) is the most common of the ectodermal dysplasias characterized by a triad of absent or reduced sweat, hypodontia and misshapen teeth, and missing or sparse hair. As the central nervous system is primarily ectodermal in origin, it has long been a concern that HED may be associated with developmental delay and/or intellectual disabilities. While published reviews report abnormalities in mental or motor development in 15-25% of HED-affected patients, there is no report in the literature including a systematic assessment of intellectual abilities in a cohort of patients with this rare disorder. During yearly health care updates, many of our clinic families report attention difficulties in young HED patients without evidence of a significant impact on school performance. In an exploratory study to identify and quantify intellectual abnormalities that may be associated with HED, we performed a psychological examination of 23 HED patients by means of the Wechsler Intelligence Scales, WPPSI-III, and WISC-IV. The interpretation of the tests shows no significant impairment in the achievements of the sample group compared with normative values (full scale scores, and index scale scores of the WISC-IV). At an individual level, the HED-affected patients were characterised by higher scores on the Verbal Comprehension Index, on Perceptual Reasoning and Working Memory Indices, and lower scores on the Processing Speed Index. As all of the Indices were within normal limits for the study population, in the absence of major mental/motor disabilities these findings support the mainstream education of HED-affected children.

  4. Hip dysplasia, pelvic obliquity, and scoliosis in cerebral palsy: a qualitative analysis using 3D CT reconstruction

    NASA Astrophysics Data System (ADS)

    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.

  5. A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)

    PubMed Central

    2014-01-01

    Background Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused by mutations in the gene SMARCAL1. Case presentation We report the clinical and genetic diagnosis of a 5-years old girl with SIOD, referred to our Center because of nephrotic-range proteinuria occasionally detected during the follow-up for congenital hypothyroidism. Mutational analysis of SMARCAL1 gene was performed by polymerase chain reaction (PCR) and bidirectional sequencing. Sequence analysis revealed that patient was compound heterozygous for two SMARCAL1 mutations: a novel missense change (p.Arg247Pro) and a well-known nonsense mutation (p.Glu848*). Conclusion This report provided the clinical and genetic description of a mild phenotype of Schimke immuno-osseous dysplasia associated with nephrotic proteinuria, decreasing after combined therapy with ACE inhibitors and sartans. Our experience highlighted the importance of detailed clinical evaluation, appropriate genetic counseling and molecular testing, to provide timely treatment and more accurate prognosis. PMID:24589093

  6. Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones.

    PubMed

    Taylor, Richard M; Kashima, Takeshi G; Ferguson, David J; Szuhai, Károly; Hogendoorn, Pancras C; Athanasou, Nicholas A

    2012-01-01

    Adamantinoma of long bones and osteofibrous dysplasia are rare, osteolytic primary bone tumours of uncertain origin containing areas of fibrous and fibro-osseous proliferation. We investigated the nature of the stromal cells in adamantinoma of long bones and osteofibrous dysplasia, and determined cellular and molecular mechanisms of osteolysis in these tumours. Cell culture, molecular (RT-PCR, western blot) and immunohistochemical studies on cases of adamantinoma of long bones and of osteofibrous dysplasia were undertaken to determine the expression of epithelial, osteoblast and osteoclast markers. Ultrastructural and immunophenotypic studies on cultured adamantinoma and osteofibrous dysplasia stromal cells showed that these cells were mainly fibroblast-like with few cells expressing epithelial markers. Osteofibrous dysplasia but not adamantinoma cells expressed alkaline phosphatase. Both osteofibrous dysplasia and adamantinoma cells expressed the ostoclastogenic factors M-CSF and RANKL. Adamantinoma and osteofibrous dysplasia cells also expressed messenger RNA for osteocalcin, osteonectin, osteopontin, osterix and collagen type 1. Adamantinoma and osteofibrous dysplasia cells cultured alone on dentine slices were not capable of lacunar resorption, but in co-cultures with monocytes induced formation of osteoclast-like cells was observered. Cultured osteofibrous dysplasia and adamantinoma stromal cells show similar ultrastructural and immunophenotypic characteristics, and differentially express osteoblast markers. Promotion of osteoclastogenesis by stromal cells may contribute to osteolysis in adamantinoma of long bones and osteofibrous dysplasia.

  7. Developmental dysplasia of the hip in infants with congenital muscular torticollis.

    PubMed

    Minihane, Keith P; Grayhack, John J; Simmons, Todd D; Seshadri, Roopa; Wysocki, Robert W; Sarwark, John F

    2008-09-01

    Infants with congenital muscular torticollis (CMT) are at increased risk for developmental dysplasia of the hip (DDH), which has led to increased use of diagnostic procedures. Our goal in this study was to establish indications for imaging the hips of infants presenting with CMT. We reviewed the cases of 292 patients with the diagnosis of CMT, 16 of whom were found to have DDH. Each patient with DDH had an abnormal clinical hip examination. Our study results demonstrate that, despite the association of these disorders, an infant presenting with CMT does not require routine hip imaging in light of a normal clinical hip examination. The coexistence rate for CMT and DDH requiring treatment is 4.5%, which is lower than the commonly accepted 20%.

  8. Doublecortin immunoreactivity in giant cells of tuberous sclerosis and focal cortical dysplasia.

    PubMed

    Mizuguchi, Masashi; Yamanouchi, Hideo; Becker, Laurence E; Itoh, Masayuki; Takashima, Sachio

    2002-10-01

    Cerebral cortical lesions of tuberous sclerosis (TSC) and focal cortical dysplasia (FCD) show disturbances in laminar architecture and cellular differentiation. We immunohistochemically studied the expression of doublecortin, a fetal neuronal protein that regulates neuronal migration, in the surgical specimens of five TSC and eight FCD patients. In both TSC and FCD, bizarre giant cells showed a variable degree of doublecortin immunoreactivity. Both cytomegalic neurons and balloon cells were positive. The staining tended to be more intense in TSC than in FCD, although there were exceptional cases in both groups. Doublecortin immunoreactivity of normal-sized neural cells was restricted to a small number of astrocytes, and comparable to that in control patients. The persistent expression of doublecortin by giant cells in the postnatal cerebrum is additional evidence of abnormal differentiation, which may be relevant to the pathogenesis of cortical disarray in TSC and FCD.

  9. Prognostic radiographic factors in developmental dysplasia of the hip following Salter osteotomy.

    PubMed

    Chang, Chia-Hsieh; Yang, Wen-E; Kao, Hsuan-Kai; Lee, Wei-Chun; Shih, Chun-Hsiung; Kuo, Ken N

    2015-01-01

    Radiographic parameters for evaluating hip development are altered by Salter osteotomy, and their prognostic value require further validation. A total of 63 patients who underwent open reduction and Salter osteotomy for unilateral hip dysplasia were evaluated with Severin classification 10.8 years later. The initial first-year postoperative acetabular index, c/b ratio, head-teardrop distance, and head coverage were compared with the final outcome of Severin classification. Greater c/b ratio was significantly associated with later Severin class III hip. Using receiver operating characteristics curve, a c/b ratio greater than 0.72 at 6 months and 1 year postoperatively can predict the possibility of a class III hip in 30 and 60% of patients, respectively.

  10. Rupture of the Renal Artery After Cutting Balloon Angioplasty in a Young Woman With Fibromuscular Dysplasia

    SciTech Connect

    Oguzkurt, Levent Tercan, Fahri; Gulcan, Oner; Turkoz, Riza

    2005-04-15

    A 24-year-old woman with uncontrollable high blood pressure for 3 months had significant stenosis of the left renal artery caused by fibromuscular dysplasia (FMD). The lesion was resistant to percutaneous transluminal angioplasty at 18 atm with a semicompliant balloon. Angioplasy with a 6 x 10 mm cutting balloon (CB) caused rupture of the artery. Low-pressure balloon inflation decreased but did not stop the leak. An attempt to place a stent-graft (Jostent; Jomed, Rangendingen, Germany) failed, and a bare, 6-mm balloon-expandable stent (Express SD; Boston Scientific, MN) was deployed to seal the leak, which had decreased considerably after long-duration balloon inflation. The bleeding continued, and the patient underwent emergent surgical revascularization of the renal artery with successful placement of a 6-mm polytetrafluoroethylene bypass graft. CBs should be used very carefully in the treatment of renal artery stenosis, particularly in patients with FMD.

  11. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

    PubMed

    Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin

    2016-05-01

    SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain.We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated.

  12. A case of craniofacial fibrous dysplasia associated with McCune-Albright syndrome lost to follow-up.

    PubMed

    Williams, Robert Gareth Michael

    2015-02-26

    McCune-Albright syndrome is a rare fibro-osseous syndrome characterised by a classic triad of fibrous dysplasia (FD), café-au-lait macules and various underlying endocrinopathies. This case report describes how a patient was rediagnosed by a general dental practitioner following attendance for a routine dental examination. The patient had been previously diagnosed with the condition 28 years earlier but no follow-up or monitoring of her condition had taken place. As a result, she was found to have several undiagnosed and untreated complications of the disease including FD of the mandible, optic neuropathy and potential thyroid involvement.

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

    MedlinePlus

    ... and Ordering Information All Issues Subjects All Subjects Arrhythmia and Electrophysiology Basic, Translational, and Clinical Research Critical ... Arteriosclerosis, Thrombosis, and Vascular Biology (ATVB) Circulation → Circ: Arrhythmia and ... Circ: Cardiovascular Genetics → Circ: Cardiovascular Imaging → ...

  14. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

    PubMed Central

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

    2008-01-01

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

  15. Cervical dysplasia treatment: key issues for developing countries.

    PubMed

    Bishop, A; Sherris, J; Tsu, V D; Kilbourne-Brook, M

    1996-12-01

    Many developing countries face serious obstacles that have hindered establishment of successful cervical cancer control programs. Various countries are now seeking to strengthen cytology services and identify simple low-cost screening strategies; but any real gains in reducing cervical cancer incidence and mortality will also require effective treatment of women with preinvasive disease. Despite a trend toward conservative outpatient approaches for treating cervical dysplasia in industrialized countries, clinicians in many developing countries still rely primarily on invasive inpatient methods such as cone biopsy and hysterectomy. For women who could be treated with less invasive methods, these procedures tend to pose unnecessary risks and entail high costs that put them beyond the reach of many patients. Outpatient therapy, employing methods such as cryotherapy and the loop electrosurgical excision procedure (LEEP), combined with proper follow-up, is appropriate for dealing with visible lesions on the ectocervix when invasive cancer and endocervical involvement have been ruled out. Cryotherapy and LEEP hold out particular promise for developing countries because of their effectiveness, lack of side-effects, simplicity, and low cost. Cure rates range from 80% to 95%, depending on the method used and the severity of the lesions. However, each method has advantages and disadvantages that demand consideration. Various ways of reducing the number of follow-up visits, including the two-visit "see and treat" approach, are also available for use in areas where women's access to health services may be limited. A recent survey by the Program for Appropriate Technology in Health (PATH) affirmed the tendency to rely on cone biopsy and hysterectomy. It also found that in many places all degrees of preinvasive disease were treated, rather than only high-grade or severe conditions; that respondents in Latin America, the Caribbean, and Asia tended to use cryotherapy and LEEP more

  16. Mild Campomelic Dysplasia: Report on a Case and Review

    PubMed Central

    Corbani, S.; Chouery, E.; Eid, B.; Jalkh, N.; Abou Ghoch, J.; Mégarbané, A.

    2011-01-01

    We report on a 10.5-year-old girl with a mild form of campomelic dysplasia. She presented with short stature of prenatal onset, dysmorphic facial features, limitation of supination and pronation of the forearms, dysplastic nails, and bone abnormalities consisting especially of cone-shaped epiphyses of the middle phalanx of the 2nd fingers, brachydactyly and clinodactyly of the middle phalanx of both 5th fingers, short 4th metacarpals, radial and femoral head subluxation, hypoplastic scapulae, humeral and ulnar epiphyseal abnormalities, unossified symphysis pubis, and a significant delay in bone age. Molecular analysis of the SOX9 gene revealed the presence of a de novo missense mutation: p.P170L (c.509C>T). Mild and surviving cases of campomelic dysplasia are reviewed. PMID:21373255

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

    PubMed

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

    2015-12-01

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

  18. Evolving management of metaplasia and dysplasia in Barrett's epithelium

    PubMed Central

    Evans, Richard P T; Mourad, Moustafa Mabrouk; Fisher, Simon G; Bramhall, Simon R

    2016-01-01

    Oesophageal cancer affects more than 450000 people worldwide and despite continued medical advancements the incidence of oesophageal cancer is increasing. Oesophageal cancer has a 5 year survival of 15%-25% and now globally attempts are made to more aggressively diagnose and treat Barrett’s oesophagus the known precursor to invasive disease. Currently diagnosis the of Barrett’s oesophagus is predominantly made after endoscopic visualisation and histopathological confirmation. Minimally invasive techniques are being developed to improve the viability of screening programs. The management of Barrett’s oesophagus can vary greatly dependent on the presence and severity of dysplasia. There is no consensus between the major international medical societies to determine and agreed surveillance and intervention pathway. In this review we analysed the current literature to demonstrate the evolving management of metaplasia and dysplasia in Barrett’s epithelium. PMID:28058012

  19. Neonatal orchitis mimicking cystic dysplasia of the testis.

    PubMed

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

    2010-12-01

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

  20. Barrett's esophagus: photodynamic therapy for ablation of dysplasia, reduction of specialized mucosa and treatment of superficial esophageal cancer

    NASA Astrophysics Data System (ADS)

    Overholt, Bergein F.; Panjehpour, Masoud

    1995-03-01

    Fifteen patients with Barrett's esophagus and dysplasia were treated with photodynamic therapy. Four patients also had early, superficial esophageal cancers and 5 had esophageal polyps. Light was delivered via a standard diffuser or a centering esophageal balloon. Eight patients maintained on omeprazole and followed for 6 - 54 months are the subject of this report. Photodynamic therapy ablated dysplastic or malignant mucosa in patients with superficial cancer. Healing and partial replacement of Barrett's mucosa with normal squamous epithelium occurred in all patients and complete replacement with squamous epithelium was found in two. Side effects included photosensitivity and mild-moderate chest pain and dysphagia for 5 - 7 days. In three patients with extensive circumferential mucosal ablation in the proximal esophagus, healing was associated with esophageal strictures which were treated successfully by esophageal dilation. Strictures were not found in the distal esophagus. Photodynamic therapy combined with long-term acid inhibition provides effective endoscopic therapy of Barrett's mucosal dysplasia and superficial (Tis-T1) esophageal cancer. The windowed centering balloon improves delivery of photodynamic therapy to diffusely abnormal esophageal mucosa.

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

    NASA Astrophysics Data System (ADS)

    Wang, Qing-Hua; Li, Zhen-Hua; Lai, Jian-Cheng; He, An-Zhi

    2007-09-01

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

  2. [Prevalence of pectinate ligament dysplasia in golden retrievers in Switzerland].

    PubMed

    Spiess; Bolliger; Borer-Germann; Murisier; Richter; Pot; Walser-Reinhardt; Watté; Hässig

    2014-06-01

    The prevalence of pectinate ligament dysplasia was evaluated in a prospective multi-center examination of randomly selected Golden retrievers of variable sex and age. The examinations were carried out by qualified veterinary ophthalmologists between May 1 and May 31, 2013. A total of 92 dogs (29 male and 62 female dogs) were examined. The dogs were between 6 months and 14 years old (4.53 ± 3.02 years). Gonioscopy was performed under topical anesthesia using a Koeppe lens and a hand-held slit lamp with ≥ 10-x magnification. Four quadrants (dorsal, lateral, medial, ventral) were examined in each eye. For each quadrant a score between 3 (normal) and 0 (grossly abnormal) was assigned. The average total score for all quadrants was 2.14 ± 0.95. The width of the drainage angle W was 2.29 ± 0.88, while the score for mesodermal dysplasia MD was 1.98 ± 0.98. There was no significant difference between left and right eyes, however, a significant difference was found between female and male dogs, as well as between young dogs and older dogs. The width of the drainage angle decreased with age and the degree of mesodermal dysplasia increased. Female dogs had lower total scores compared to male dogs and the ventral and lateral quadrants had significantly lower scores than the other quadrants. In conclusion, 52/92 (56.5 %) showed signs of Pectinate ligament dysplasia and would have to be excluded from a breeding program according to the guidelines of the European College of Veterinary Ophthalmologists.

  3. Dual Infection with Helicobacter bilis and Helicobacter hepaticus in P-Glycoprotein-Deficient mdr1a−/− Mice Results in Colitis that Progresses to Dysplasia

    PubMed Central

    Maggio-Price, Lillian; Bielefeldt-Ohmann, Helle; Treuting, Piper; Iritani, Brian M.; Zeng, Weiping; Nicks, Andrea; Tsang, Mark; Shows, Donna; Morrissey, Phil; Viney, Joanne L.

    2005-01-01

    Patients with inflammatory bowel disease (IBD) are at increased risk for developing high-grade dysplasia and colorectal cancer. Animal IBD models that develop dysplasia and neoplasia may help elucidate the link between inflammation and colorectal cancer. Mdr1a−/− mice lack the membrane efflux pump p-glycoprotein and spontaneously develop IBD that can be modulated by infection with Helicobacter sp: H. bilis accelerates development of colitis while H. hepaticus delays disease. In this study, we determined if H. hepaticus infection could prevent H. bilis-induced colitis. Unexpectedly, a proportion of dual-infected mdr1a−/− mice showed IBD with foci of low- to high-grade dysplasia. A group of dual-infected mdr1a−/− animals were maintained long term (39 weeks) by intermittent feeding of medicated wafers to model chronic and relapsing disease. These mice showed a higher frequency of high-grade crypt dysplasia, including invasive adenocarcinoma, possibly because H. hepaticus, in delaying the development of colitis, allows time for transformation of epithelial cells. Colonic epithelial preparations from co-infected mice showed increased expression of c-myc (5- to 12-fold) and interleukin-1α/β (600-fold) by real-time polymerase chain reaction relative to uninfected wild-type and mdr1a−/− animals. This animal model may have particular relevance to human IBD and colorectal cancer because certain human MDR1 polymorphisms have been linked to ulcerative colitis and increasedrisk for colorectal cancer. PMID:15920164

  4. Dysplasia in Gastric Mucosa and its Reporting Problems

    PubMed Central

    Ikonomi, Majlinda; Cela, Blerina; Tarifa, Dhurata

    2015-01-01

    BACKGROUND: The recognition, terminology used and histopathologic evaluation of two essential elements in gastric carcinogenesis, atrophy and dysplasia, are characterized by controversy. MATERIALS AND METHODS: One hundred fifteen cases, with slides and their histopathologic reports from the archive of the Laboratory of Pathology were studied for the diagnostic value, reporting of dysplasia, interobserver variability, the relation of dysplastic lesions with inflammation, atrophy and metaplasia. After retrospectively studying the histopathologic reports from the archive we distributed the cases according to endoscopic and histopathologic diagnosis, together with the reexamination of the slides. The comparison of the median values of the numeric variables was made with the Mann-Whitney test (non-parametric equivalent of the Student’s “t” test). RESULTS: The endoscopic clinical diagnosis were: malignancy/suspicious for malignancy 88 cases (76%) and non-neoplastic diagnosis (like ulcer or gastritis) 27 cases (24%). From the reexamination of the cases it resulted that there is no difference in reporting the malignancy, but there is a difference in the cases reported as dysplasia (p = 0.001) and negative for neoplasia (p = 0.063, borderline). CONCLUSION: Clinicians and pathologists can feel directly the discrepancy called “interobserver variability” and should be assured that the use of guidelines will cause a lowering of this variability. PMID:27275286

  5. Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele

    PubMed Central

    Esmer, Aytul Çorbacıoğlu; Kalelioğlu, İbrahim; Kayserili, Hülya; Yüksel, Atıl; Has, Recep

    2013-01-01

    Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases. A 24-year-old woman was referred to our unit at 27 weeks gestation due to the preliminary diagnosis of encephalocele. The sagittal and axial sonography of the fetal face depicted a midline mass measuring 3.8 × 4.2 cm, projecting anteriorly between the fetal orbits and extending from the the upper aspects of the forehead to the nasal bridge, which was consistent with the frontal (anterior) encephalocele. There were prominent hypertelorism and two facial clefts, and the nostrils were extremely separated. Following genetic counseling, the couple requested termination of pregnancy. Fetal pathologic examination confirmed the diagnosis of frontonasal dysplasia and anterior encephalocele with no additional major malformation. The fetal karyotype was normal and no mutation in the ALX1 gene was found, excluding ALX1-related frontonasal dysplasia in the differential diagnosis. Fetuses with neural tube defect may suffer from associated syndromes and disorders, as with our case. The presence of frontonasal dyplasia should be considered when an anterior encephalocele is detected by ultrasonography. PMID:24592072

  6. Interobserver variance in myelodysplastic syndromes with less than 5 % bone marrow blasts: unilineage vs. multilineage dysplasia and reproducibility of the threshold of 2 % blasts.

    PubMed

    Font, Patricia; Loscertales, Javier; Soto, Carlos; Ricard, Pilar; Novas, Carolina Muñoz-; Martín-Clavero, Estela; López-Rubio, Montserrat; Garcia-Alonso, Luis; Callejas, Marta; Bermejo, Alfredo; Benavente, Celina; Ballesteros, Mónica; Cedena, Teresa; Calbacho, María; Urbina, Raquel; Villarrubia, Jesús; Gil, Santiago; Bellón, José María; Diez-Martin, José Luis; Villegas, Ana

    2015-04-01

    Previous studies have shown the reproducibility of the 2008 World Health Organization (WHO) classification in myelodysplastic syndromes (MDS), especially when multilineage dysplasia or excess of blasts are present. However, there are few data regarding the reproducibility of MDS with unilineage dysplasia. The revised International Prognostic Scoring System R-IPSS described two new morphological categories, distinguishing bone marrow (BM) blast cell count between 0-2 % and >2- < 5 %. This distinction is critical for establishing prognosis, but the reproducibility of this threshold is still not demonstrated. The objectives of our study were to explore the reliability of the 2008 WHO classification, regarding unilineage vs. multilineage dysplasia, by reviewing 110 cases previously diagnosed with MDS, and to study whether the threshold of ≤2 % BM blasts is reproducible among different observers. We used the same methodology as in our previous paper [Font et al. (2013) Ann Hematol 92:19-24], by encouraging investigators to include patients with <5 % BM blasts. Samples were collected from 11 hospitals and were evaluated by 11 morphologists. Each observer evaluated 20 samples, and each sample was analyzed independently by two morphologists. Discordance was observed in 36/108 suitable cases (33 %, kappa test 0.503). Diagnosis of MDS with unilineage dysplasia (refractory cytopenia with unilineage dysplasia (RCUD), refractory anemia with ring sideroblasts (RARS) or unclassifiable MDS) was assessed in 33 patients, by either of the two observers. We combined this series with the cases with RCUD or RARS included in our 2013 paper, thus obtaining 50 cases with unilineage dysplasia by at least one of the observers. The whole series showed very low agreement regarding RCUD (5/23, 21 %) and RARS (5/28, 18 %). Regarding BM blast count, the threshold of ≤2 % was not reproducible (discordance rate 32/108 cases, kappa test 0.277). Our study shows that among MDS WHO 2008

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

    PubMed

    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.

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

    PubMed Central

    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. PMID:23189162

  9. Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.

    PubMed

    Zerem, Ayelet; Vinkler, Chana; Michelson, Marina; Leshinsky-Silver, Esther; Lerman-Sagie, Tally; Lev, Dorit

    2011-12-01

    Proximal duplications of the long arm of chromosome 16 are rare and only a few patients have been reported. Clinically, the patients do not have a distinctive syndromic appearance; however they all show some degree of intellectual disability and most have severely delayed speech development. We report on a child presenting with mild-to-moderate intellectual disability, microcephaly, language dyspraxia, and mild dysmorphisms who was found to have a mosaic gain of chromosome 16q (16q11.2-16q12.1). Magnetic resonance imaging done at the age of 4 years demonstrated cerebellar cortical dysplasia involving the vermis and hemispheres. This is the first report of cerebellar anomalies in a patient with partial trisomy 16q. The genes ZNF423 and CBLN1 found in the duplicated region play a role in the development of the cerebellum and may be responsible for the cerebellar cortical dysplasia.

  10. Clonal Ordering of 17p and 5q Allelic Losses in Barrett Dysplasia and Adenocarcinoma

    NASA Astrophysics Data System (ADS)

    Blount, Patricia L.; Meltzer, Stephen J.; Yin, Jing; Huang, Ying; Krasna, Mark J.; Reid, Brian J.

    1993-04-01

    Both 17p and 5q allelic losses appear to be involved in the pathogenesis or progression of many human solid tumors. In colon carcinogenesis, there is strong evidence that the targets of the 17p and 5q allelic losses are TP53, the gene encoding p53, and APC, respectively. It is widely accepted that 5q allelic losses precede 17p allelic losses in the progression to colonic carcinoma. The data, however, supporting this proposed order are largely based on the prevalence of 17p and 5q allelic losses in adenomas and unrelated adenocarcinomas from different patients. We investigated the order in which 17p and 5q allelic losses developed during neoplastic progression in Barrett esophagus by evaluating multiple aneuploid cell populations from the same patient. Using DNA content flow cytometric cell sorting and polymerase chain reaction, 38 aneuploid cell populations from 14 patients with Barrett esophagus who had high grade dysplasia, cancer or both were evaluated for 17p and 5q allelic losses. 17p allelic losses preceded 5q allelic losses in 7 patients, both 17p and 5q allelic losses were present in all aneuploid populations of 4 patients, and only 17p (without 5q) allelic losses were present in the aneuploid populations of 3 patients. In no patient did we find that a 5q allelic loss preceded a 17p allelic loss. Our data suggest that 17p allelic losses typically occur before 5q allelic losses during neoplastic progression in Barrett esophagus.

  11. Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.

    PubMed

    Caksen, H; Kurtoğlu, S

    2004-01-01

    Weismann-Netter syndrome (WNS), a rare condition, is characterized by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. It was first described in 1954 by Weismann-Netter and Stuhl. We report a 2-year-old girl with typical findings of WNS who was misdiagnosed as having rickets. Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias. We think that the true incidence of WNS is probably higher than previously reported; therefore, we would like to emphasize that WNS should be considered in patients who have bowed lower extremities and have been diagnosed as having syphilis or healed rickets.

  12. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

    PubMed

    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.

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

    PubMed

    Groothuis, Jessie R; Makari, Doris

    2012-04-01

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

  14. Understanding the Short- and Long-Term Respiratory Outcomes of Prematurity and Bronchopulmonary Dysplasia

    PubMed Central

    Islam, Jessica Y.; Keller, Roberta L.; Aschner, Judy L.; Hartert, Tina V.

    2015-01-01

    Bronchopulmonary dysplasia (BPD) is a chronic respiratory disease associated with premature birth that primarily affects infants born at less than 28 weeks’ gestational age. BPD is the most common serious complication experienced by premature infants, with more than 8,000 newly diagnosed infants annually in the United States alone. In light of the increasing numbers of preterm survivors with BPD, improving the current state of knowledge of long-term respiratory morbidity for infants with BPD is a priority. We undertook a comprehensive review of the published literature to analyze and consolidate current knowledge of the effects of BPD that are recognized at specific stages of life, including infancy, childhood, and adulthood. In this review, we discuss both the short-term and long-term respiratory outcomes of individuals diagnosed as infants with the disease and highlight the gaps in knowledge needed to improve early and lifelong management of these patients. PMID:26038806

  15. Multivisceral Fibromuscular Dysplasia: An Unusual Case of Renal and Superior Mesenteric Involvement

    PubMed Central

    2010-01-01

    Fibromuscular dysplasia (FMD), a disease process which leads to arterial stenosis and aneurysm formation, has been reported to occur in almost every arterial bed in the body. However, multivisceral FMD is rare, and we report a 43-year-old woman with hypertension who had incidental finding of FMD of both renal arteries and the superior mesenteric artery (SMA). The left renal aneurysms and right renal stenosis were successfully treated by aneurysm resection and aortorenal bypass and percutaneous transluminal angioplasty, respectively. The asymptomatic FMD of the SMA was treated conservatively. The indications for intervention in patients with asymptomatic FMD have not been clarified till date, and we therefore advise a close surveillance program. PMID:23555404

  16. Early detection of dysplasia in colon and bladder tissue using laser-induced fluorescence

    NASA Astrophysics Data System (ADS)

    Rava, Richard P.; Richards-Kortum, Rebecca R.; Fitzmaurice, Maryann; Cothren, Robert M., Jr.; Petras, Robert; Sivak, Michael J., Jr.; Levine, Howard H.

    1991-06-01

    Laser induced fluorescence has been explored as an early detection scheme for two clinically important examples of neoplasia: colorectal dysplasia and transitional cell carcinoma in the urinary bladder. In both, it is desirable to detect microscopic and biochemical changes of pre-cancer in order to identify patients at risk for developing invasive carcinoma. This paper will compare the fluorescence obtained from these two pre-cancerous conditions, and discuss the connection between the fluorescence and the morphological/molecular changes occurring in the tissue. The similarities and differences in the fluorescence will be compared to determine the general features of pre-cancerous changes that might be utilized for detection of the disease.

  17. Optical coherence tomography in the diagnosis of dysplasia and adenocarcinoma in Barret's esophagus

    NASA Astrophysics Data System (ADS)

    Gladkova, N. D.; Zagaynova, E. V.; Zuccaro, G.; Kareta, M. V.; Feldchtein, F. I.; Balalaeva, I. V.; Balandina, E. B.

    2007-02-01

    Statistical analysis of endoscopic optical coherence tomography (EOCT) surveillance of 78 patients with Barrett's esophagus (BE) is presented in this study. The sensitivity of OCT device in retrospective open detection of early malignancy (including high grade dysplasia and intramucosal adenocarcinoma (IMAC)) was 75%, specificity 82%, diagnostic accuracy - 80%, positive predictive value- 60%, negative predictive value- 87%. In the open recognition of IMAC sensitivity was 81% and specificity were 85% each. Results of a blind recognition with the same material were similar: sensitivity - 77%, specificity 85%, diagnostic accuracy - 82%, positive predictive value- 70%, negative predictive value- 87%. As the endoscopic detection of early malignancy is problematic, OCT holds great promise in enhancing the diagnostic capability of clinical GI endoscopy.

  18. Precautions in using a perforator free flap to treat mandibuloacral dysplasia--a case report.

    PubMed

    Hallock, Geoffrey G

    2014-05-01

    Mandibuloacral dysplasia (MAD) is a rare form of inherited lipodystrophy. The type B pattern is characterized by a generalized absence of subcutaneous tissues. There is also a deficiency of perivascular adiposity that makes the dissection not only of perforators and their source vessels difficult, but the recipient site vasculature as well. Perforator flaps in the MAD patient by definition will never be bulky, and instead a challenge in every respect as the perforators are extremely diminutive and therefore fragile. However, if a large, thin flap with a long pedicle of reasonable caliber is indicated, the attributes of a perforator flap may still be indicated as demonstrated in this case report for a recalcitrant heel pressure sore that had failed the usual conservative medical treatment.

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

    PubMed Central

    Yaou, Rabah Ben; 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

    2011-01-01

    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. PMID:21267004

  20. A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth

    PubMed Central

    Heo, Ju Sun; Choi, Ka Young; Sohn, Se Hyoung; Kim, Curie; Kim, Yoon Joo; Shin, Seung Han; Lee, Jae Myung; Lee, Juyoung; Sohn, Jin A; Lim, Byung Chan; Lee, Jin A; Choi, Chang Won; Kim, Ee-Kyung; Kim, Beyong Il; Choi, Jung-Hwan

    2012-01-01

    Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at 37+1 weeks of gestation with a birth weight of 1,690 g (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of β-D-hexosaminidase and α-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months. PMID:23227064

  1. Attenuation of miR-17∼92 Cluster in Bronchopulmonary Dysplasia

    PubMed Central

    Rogers, Lynette K.; Robbins, Mary; Dakhlallah, Duaa; Yang, Zhaogang; Lee, L. James; Mikhail, Madison; Nuovo, Gerard; Pryhuber, Gloria S.; McGwin, Gerald; Marsh, Clay B.

    2015-01-01

    Rationale: 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. Objectives: The current studies tested the hypothesis that alterations in miR-17∼92 cluster and DNA methyltransferase expression are present in bronchopulmonary dysplasia. Methods: 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. Measurements and Main Results: 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. Conclusions: 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

  2. Is it worthwhile to routinely ultrasound screen children with idiopathic clubfoot for hip dysplasia?

    PubMed Central

    Mahan, Susan T.; Yazdy, Mahsa M; Kasser, James R.; Werler, Martha M

    2015-01-01

    Purpose Patients with idiopathic clubfoot are considered at increased risk for having developmental dysplasia of the hips (DDH). However, the studies showing this association have been relatively small. Many clinicians who treat idiopathic clubfoot routinely screen the hips of these patients with ultrasound or radiograph due to the concerns of increased risk of DDH. We evaluated a large clubfoot population to determine the risk of DDH and compare this to a population of children without clubfoot. We also evaluated if the clubfoot patients found to have DDH would have been discovered by standard DDH screening. Methods We identified infants in three states (MA, NY, NC) who were reported to each state’s birth defects registry as having a clubfoot. A second cohort of infants without clubfoot was also identified as a control group. Mothers of these children were contacted to be included in the study, and a computer-assisted telephone interview was administered by one of the study nurses, including questions about treatment of DDH. The child’s median age at interview was 7 months. Mothers of clubfoot cases were also contacted for follow-up at mean age of 3.3 years. Results Families of 677 patients with clubfoot and 2037 controls were interviewed. 5/677 (0.74%) patients with clubfoot and 5/2037 (0.25%) controls reported having their infant treated with a brace or harness for hip problems (p=0.134). Of the patients with clubfoot, two of them did not need treatment for their DDH and two would have been discovered by standard hip screening. Follow-up study at 3.3 years of age found no serious late hip dysplasia. Conclusions Treatment of DDH was uncommon in all children; the higher proportion in infants with clubfoot was not statistically different than controls. Of the patients with clubfoot and DDH, standard hip screening would have been appropriate and others did not need treatment. These data suggest that routine hip ultrasound or radiographic screening of idiopathic

  3. Pathophysiology, screening and diagnosis of pulmonary hypertension in infants with bronchopulmonary dysplasia - A review of the literature.

    PubMed

    Altit, Gabriel; Dancea, Adrian; Renaud, Claudia; Perreault, Thérèse; Lands, Larry C; Sant'Anna, Guilherme

    2016-11-09

    Bronchopulmonary dysplasia (BPD) is a common complication of extreme prematurity, which has increased over the last 20 years. BPD is associated with increased morbidities and mortality. It has been increasingly recognized that BPD affects overall lung development including the pulmonary vasculature. More recent studies have demonstrated an increased awareness of pulmonary arterial hypertension (PH) in BPD patients and recent international guidelines have advocated for better screening. This review will describe the current understanding of the pathophysiology of PH in infants with BPD, the in-depth assessment of the available literature linking PH and BPD, and propose an approach of screening and diagnosis of PH in infants with BPD.

  4. Fibrous dysplasia of the maxilla in an elderly female: Case report on a 14-year quiescent phase

    PubMed Central

    Lee, Wan; Park, Yong-Chan; Kim, Myoung-Hyoun; Choi, Moon-Ki; Yoon, Jung-Hoon

    2016-01-01

    Fibrous dysplasia (FD) is an uncommon skeletal disorder in which normal bone is replaced by abnormal fibro-osseous tissue. Mainly, FD is found in children, and by adulthood it usually becomes quiescent. Our case showed FD of more than 14-year duration in the left maxilla. Our evaluation was that growth ceased in adulthood and had achieved the static stage. Because FD cases in elderly patients are rarely reported, we hereby present a monostotic FD case in a 65-year-old female. We presented sequential radiographic images and scintigraphic images of this case, and combined them with a literature review that emphasized the progression of the disease. PMID:28035304

  5. Reconstruction of the sphenoid wing in a case of neurofibromatosis type 1 and complex unilateral orbital dysplasia with pulsating exophthalmos.

    PubMed

    Friedrich, Reinhard E

    2011-01-01

    Sphenoid wing dysplasia is a defining feature of neurofibromatosis type 1 (NF1). This defect of the skull base can be associated with pulsating exophthalmos. This report describes the successful reconstruction of a dysplastic sphenoid wing in an NF1 patient using lateral orbitotomy as a scarcely visible and sufficiently extendable approach. An intraoperative computed cone-beam computed tomography system (3D C-arm system) was used as a prompt and feasible technique to check the positioning of the titanium mesh in an anatomic region that is sensitive to mechanical stress.

  6. More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.

    PubMed

    Pimienta, Allen L; Wilcox, William R; Reinstein, Eyal

    2013-12-01

    The criteria for diagnosing and distinguishing between Weill-Marchesani syndrome (WMS) and geleophysic dysplasia (GD) are inexact and often overlap. We report the clinical findings and evolving phenotype for a period of 18 years in a patient whose diagnosis, and distinguishing characteristics, transformed from GD to WMS. Molecular testing demonstrated novel mutations in the ADAMTS10 gene confirming a diagnosis of autosomal recessive WMS in the proposita. We further report on phenotypic features not classically linked to WMS. These findings indicate that the Weill-Marchesani phenotype may be developed and is not always apparent in early childhood.

  7. Multimodal entity coreference for cervical dysplasia diagnosis.

    PubMed

    Song, Dezhao; Kim, Edward; Huang, Xiaolei; Patruno, Joseph; Munoz-Avila, Hector; Heflin, Jeff; Long, L Rodney; Antani, Sameer

    2015-01-01

    Cervical cancer is the second most common type of cancer for women. Existing screening programs for cervical cancer, such as Pap Smear, suffer from low sensitivity. Thus, many patients who are ill are not detected in the screening process. Using images of the cervix as an aid in cervical cancer screening has the potential to greatly improve sensitivity, and can be especially useful in resource-poor regions of the world. In this paper, we develop a data-driven computer algorithm for interpreting cervical images based on color and texture. We are able to obtain 74% sensitivity and 90% specificity when differentiating high-grade cervical lesions from low-grade lesions and normal tissue. On the same dataset, using Pap tests alone yields a sensitivity of 37% and specificity of 96%, and using HPV test alone gives a 57% sensitivity and 93% specificity. Furthermore, we develop a comprehensive algorithmic framework based on Multimodal Entity Coreference for combining various tests to perform disease classification and diagnosis. When integrating multiple tests, we adopt information gain and gradient-based approaches for learning the relative weights of different tests. In our evaluation, we present a novel algorithm that integrates cervical images, Pap, HPV, and patient age, which yields 83.21% sensitivity and 94.79% specificity, a statistically significant improvement over using any single source of information alone.

  8. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

    PubMed

    Merrick, Blair; Calder, Alistair; Wakeling, Emma

    2015-12-01

    Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma-like lesions and anisospondyly. The former leads to discrepancies in limb length, and the latter, to progressive kyphoscoliosis. Two recent cases have highlighted the genetic heterogeneity of DSC, one demonstrating the presence and, the other, the absence of a COL2A1 mutation. This may have important clinical implications, for example, screening for complications including atlanto-axial instability associated with type II collagenopathies, as well as long-term patient management. We report on a case with radiographic features of DSC with overlap into the type II collagenopathy spondyloepimetaphyseal dysplasia, Strudwick type, who was found to carry a novel heterozygous mutation in the COL2A1 gene. Testing for COL2A1 mutations should be performed in all patients with radiological features of DSC. Further research is needed to identify the underlying molecular cause in cases where no COL2A1 mutation is identified.

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

    PubMed

    Narayan, Rajeev L; Maldjian, Pierre D

    2009-01-09

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

  10. HER-2 overexpression/amplification in Barrett’s oesophagus predicts early transition from dysplasia to adenocarcinoma: a clinico-pathologic study

    PubMed Central

    Rossi, Elisa; Grisanti, Salvatore; Villanacci, Vincenzo; Casa, Domenico Della; Cengia, Paolo; Missale, Guido; Minelli, Luigi; Buglione, Michela; Cestari, Renzo; Bassotti, Gabrio

    2009-01-01

    Barrett’s oesophagus (BO) is the primary precursor lesion for oesophageal adenocarcinoma (ADC). The natural history of metaplasia-dysplasia-carcinoma sequence remains largely unknown. HER2/neu oncogene results overexpressed/amplified in preneoplastic lesions and in ADC of the oesophagus and it has been associated with poor prognosis. Our aim was to evaluate the role of HER2 overexpression/amplification in predicting the conversion from precursor lesions to ADC. We retrospectively evaluated by univariate analysis of single variables clinical records and histological specimens of 21 patients with a confirmed diagnosis of BO and/or oesophageal dysplasia. Clinical variables included age, gender, alcohol and smoking intake, presence of symptoms (pyrosis, disphagia) and endoscopic features (length). HER2 status was studied by immunohistochemistry and fluorescence in situ hybridization (FISH) on paraffin-embedded tissue. The end-points were the occurrence of progression and the time-to-progression (TTP) from the initial histologic lesion to the worst pathological pattern. Median age at diagnosis was 63 years (range 37–84). BO median length was 4.5 cm. Progression occurred in 11 of 21 patients and median TTP was 24 months. HER2 was overexpressed/amplified in 8 of 21 (38%) patients. HER2 overexpression/ amplification and the presence of dysplasia were statistically associated with progression (P= 0.038). This study provides evidence for a possible role of HER2 in the transition from dysplasia to ADC of the oesophagus. This fact could help in identifying patients at high risk of malignant transformation. PMID:19292734

  11. Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

    SciTech Connect

    Kwok, C.; Weller, P.A.; Guioli, S.

    1995-11-01

    Campomelic dysplasia (CD) is a skeletal malformation syndrome frequently accompanied by 46,XY sex reversal. A mutation-screening strategy using SSCP was employed to identify mutations in SOX9, the chromosome 17q24 gene responsible for CD and autosomal sex reversal in man. We have screened seven CD patients with no cytologically detectable chromosomal aberrations and two CD patients with chromosome 17 rearrangements for mutations in the entire open reading frame of SOX9. Five different mutations have been identified in six CD patients: two missense mutations in the SOX9 putative DNA binding domain (high mobility group, or HMG, box); three frameshift mutations and a splice-acceptor mutation. An identical frameshift mutation is found in two unrelated 46,XY patients, one exhibiting a male phenotype and the other displaying a female phenotype (XY sex reversal). All mutations found affect a single allele, which is consistent with a dominant mode of inheritance. No mutations were found in the SOX9 open reading frame of two patients with chromosome 17q rearrangements, suggesting that the translocations affect SOX9 expression. These findings are consistent with the hypothesis that CD results from haploinsufficiency of SOX9. 27 refs., 3 figs., 3 tabs.

  12. Early failure of Pavlik harness treatment for developmental hip dysplasia: clinical and ultrasound predictors.

    PubMed

    Lerman, J A; Emans, J B; Millis, M B; Share, J; Zurakowski, D; Kasser, J R

    2001-01-01

    A cohort of 93 patients with developmental dysplasia of the hip (DDH) treated with a Pavlik harness were evaluated to determine predictors of treatment failure. Failure was defined as failure to achieve or maintain hip reduction in the Pavlik harness. Of 93 patients (137 hips), 17 (26 hips) failed Pavlik harness treatment. Univariate risk factors for failure included bilaterality, initial clinical exam, and initial ultrasound (US) percent coverage. Clinical exam and initial percent coverage were multivariate risk factors for failure. Among initially clinically dislocatable hips, a low initial US alpha angle correlated with an increased likelihood of failure. All (6/6) patients with an initially irreducible hip and an initial coverage of <20% by US eventually failed treatment. Gender, side of pathology, and age at diagnosis and initiation of treatment did not correlate with failure. Irreducibility by physical exam combined with US coverage of <20% identified a patient group that uniformly failed Pavlik harness treatment. These patients may be candidates for alternative bracing, traction, or closed or open reduction.

  13. Study of the fluorescence signal for gastrointestinal dysplasia detection

    NASA Astrophysics Data System (ADS)

    Pimenta, S.; Castanheira, E. M. S.; Minas, G.

    2014-08-01

    The detection of cancer at the dysplasia stage is one of the most important goals in biomedical research. Optical techniques, specifically diffuse reflectance and intrinsic fluorescence, may improve the ability to detect gastrointestinal (GI) cancers, since they have exquisite sensitivity to some intrinsic biomarkers present on the tissues. This work follows the research that has been done towards the implementation of a spectroscopy microsystem for the early detection of GI cancers. For that purpose, the behavior of the fluorescence signal, at different temperatures and considering the most important biomarkers in GI malignancy detection, was studied and presented.

  14. Focal fibrocartilaginous dysplasia in the thoracic vertebra: A case report

    PubMed Central

    SUN, BO; ZHANG, ZHI HONG; CHEN, XUAN YING; HUANG, SHAN HU; LIU, ZHI LI

    2014-01-01

    Focal fibrocartilaginous dysplasia (FFCD) is a rare, paraneoplastic disease that often presents in children and teenagers. Previous studies have reported cases of lesions in the proximal tibia and distal femur, as well as lesions in the upper extremities. The present study describes a case of FFCD on the transverse process and the rib. The imaging findings were found to correspond with the typical observations of FFCD and a biopsy from the nidus revealed pathological results similar to those of previous reports. Thus, the present study demonstrated that FFCD affects tubular bones as well as flat bones. Further studies are required to investigate the underlying mechanism and treatment of FFCD. PMID:25202364

  15. Pulmonary Hypertension and Vascular Abnormalities in Bronchopulmonary Dysplasia.

    PubMed

    Mourani, Peter M; Abman, Steven H

    2015-12-01

    Despite advances in the care of preterm infants, these infants remain at risk bronchopulmonary dysplasia (BPD), which results in prolonged need for supplemental oxygen, recurrent respiratory exacerbations, and exercise intolerance. Recent investigations have highlighted the important contribution of the developing pulmonary circulation to lung development, showing that these infants are also at risk for pulmonary vascular disease (PVD), including pulmonary hypertension (PH) and pulmonary vascular abnormalities. Several epidemiologic studies have delineated the incidence of PH in preterm infants and the impact on outcomes. These studies have also highlighted gaps in the understanding of PVD in BPD.

  16. High SPARC Expression Starting from Dysplasia, Associated with Breast Carcinoma, Is Predictive for Bone Metastasis without Enhancement of Plasma Levels.

    PubMed

    Maroni, Paola; Bendinelli, Paola; Morelli, Daniele; Drago, Lorenzo; Luzzati, Alessandro; Perrucchini, Giuseppe; Bonini, Chiara; Matteucci, Emanuela; Desiderio, Maria Alfonsina

    2015-11-26

    In order to become established in the skeleton, metastatic cells disseminating from the breast carcinoma need to acquire organ-specific traits. There are no effective predictors for who will develop bone metastasis to guide long-term predictive therapy. Our purpose was to individuate events critical for bone colonization to make a molecular classification of breast carcinoma useful for bone-metastasis outcome. In dysplasia adjacent to carcinoma and in pair-matched specimens of bone metastasis we examined SPARC expression and localization as well as Endothelin 1/ETAR signals by immunohistochemistry, and the evaluation of plasma levels of SPARC by ELISA was also performed. In patients with breast carcinoma metastasizing to bone, SPARC and Endothelin 1/ETAR axis were highly expressed from dysplasia until bone metastasis, but the SPARC plasma level was as low as that of normal women, in contrast to patients that never develop bone metastasis, suggesting that circulating SPARC was counter adhesive. Altogether, the early identification of SPARC/Endothelin 1/ETAR in dysplastic lesions would be important to devise therapies preventing metastasis engraftment, since often carcinoma cells spread to distant organs at the time or even before patients present with cancer.

  17. Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux

    SciTech Connect

    Devriendt, K.; Fryns, J.P.

    1995-11-20

    Robson et al. suggest that renal agenesis, multicystic renal dysplasia (MRD), and uretero-pelvic junction (PUJ) stenosis are pathogenetically related. They proposed a vascular disruption as the cause, with the variable severity of the disorder related to the timing of the abnormal blood supply to the ureteric bud. Alternatively, there exists convincing evidence of a genetic cause transmitted as an autosomal dominant disorder with variable expression, and with a candidate gene localized on chromosome arm 6p. Combinations of these urological malformations occur in the same individual or in different relatives in the same family. In several families with PUJ-stenosis, linkage with the HLA-locus on 6p has been demonstrated. Furthermore, we recently described a patient with a de novo reciprocal translocation involving the same region on 6p in a patient with bilateral multicystic renal dysplasia. Most disease-associated reciprocal translocations appear to have a breakpoint within a candidate gene: therefore, it is reasonable to hypothesize that the breakpoint on 6p in this patient resides within a gene causing MRD. This suggests that mutations in the same gene may lead either to PUJ-stenosis or, when the stenosis is complete, to MRD. A translocation is expected to result in a complete disruption of the gene, and this could explain the severe clinical expression of bilateral MRD. Less severe mutations in the same gene, associated with a partially conserved gene function, could lead to PUJ-stenosis. 11 refs.

  18. High SPARC Expression Starting from Dysplasia, Associated with Breast Carcinoma, Is Predictive for Bone Metastasis without Enhancement of Plasma Levels

    PubMed Central

    Maroni, Paola; Bendinelli, Paola; Morelli, Daniele; Drago, Lorenzo; Luzzati, Alessandro; Perrucchini, Giuseppe; Bonini, Chiara; Matteucci, Emanuela; Desiderio, Maria Alfonsina

    2015-01-01

    In order to become established in the skeleton, metastatic cells disseminating from the breast carcinoma need to acquire organ-specific traits. There are no effective predictors for who will develop bone metastasis to guide long-term predictive therapy. Our purpose was to individuate events critical for bone colonization to make a molecular classification of breast carcinoma useful for bone-metastasis outcome. In dysplasia adjacent to carcinoma and in pair-matched specimens of bone metastasis we examined SPARC expression and localization as well as Endothelin 1/ETAR signals by immunohistochemistry, and the evaluation of plasma levels of SPARC by ELISA was also performed. In patients with breast carcinoma metastasizing to bone, SPARC and Endothelin 1/ETAR axis were highly expressed from dysplasia until bone metastasis, but the SPARC plasma level was as low as that of normal women, in contrast to patients that never develop bone metastasis, suggesting that circulating SPARC was counter adhesive. Altogether, the early identification of SPARC/Endothelin 1/ETAR in dysplastic lesions would be important to devise therapies preventing metastasis engraftment, since often carcinoma cells spread to distant organs at the time or even before patients present with cancer. PMID:26703564

  19. Placental Villous Vascularity Is Decreased in Premature Infants with Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension.

    PubMed

    Yallapragada, Sushmita G; Mestan, Karen K; Palac, Hannah; Porta, Nicolas; Gotteiner, Nina; Hamvas, Aaron; Grobman, William; Ernst, Linda M

    2016-01-01

    The development of pulmonary hypertension (PH) is a serious complication of bronchopulmonary dysplasia (BPD) among infants born at extremely low gestational ages. Bronchopulmonary dysplasia-associated PH is characterized by persistent pulmonary vasoconstriction, progressive right heart dysfunction, and an increased risk of death. We have shown previously that certain placental vascular lesions are associated with BPD-associated PH. Further evaluation of the villous and vascular morphometry of these placentas is warranted. Using digital image analysis (DIA), we compared villous and vascular morphometric parameters of placentas from infants with and without BPD-associated PH. We conducted a case-control study of placentas from 14 infants born at ≤28 weeks' gestational age (GA). Cases with PH (N=7) and non-PH controls (N=7) were identified using echocardiogram screening at 36 weeks' corrected GA. Central parenchymal sections from each placenta were stained for CD31. Digital image analysis was used to measure vessel and villous capillary number, perimeter, diameter, and area. Mean villous vascularity (number of vessels per villus) was calculated for each patient. Mean vessel and villous number as well as area were similar between the two groups. Villous vascularity was decreased in placentas from infants who ultimately had PH disease compared to non-PH controls (5.5±1.0 vs 7.1±1.6; P<0.05). Placental villous vascularity is decreased in infants with BPD-associated PH. Further studies should assess whether placental morphometric markers may allow clinicians to better predict BPD and provide earlier and more targeted management.

  20. Ossifying fibroma vs fibrous dysplasia of the jaw: molecular and immunological characterization.

    PubMed

    Toyosawa, Satoru; Yuki, Michiko; Kishino, Mitsunobu; Ogawa, Yuzo; Ueda, Takafumi; Murakami, Shumei; Konishi, Eiichi; Iida, Seiji; Kogo, Mikihiko; Komori, Toshihisa; Tomita, Yasuhiko

    2007-03-01

    Ossifying fibroma and fibrous dysplasia of the jaw are maxillofacial fibro-osseous lesions that should be distinguished each other by a pathologist because they show distinct patterns of disease progression. However, both lesions often show similar histological and radiological features, making distinction between the two a diagnostic dilemma. In this study, we performed immunological and molecular analyses of five ossifying fibromas, four cases of extragnathic fibrous dysplasia, and five cases of gnathic fibrous dysplasia with typical histological and radiographic features. First, we examined the difference between fibrous dysplasia and ossifying fibroma in the expression of Runx2 (which determined osteogenic differentiation from mesenchymal stem cells) and other osteogenic markers. Fibroblastic cells in fibrous dysplasia and ossifying fibroma showed strong Runx2 expression in the nucleus. The bone matrices of both lesions showed similar expression patterns for all markers tested except for osteocalcin. Immunoreactivity for osteocalcin was strong throughout calcified regions in fibrous dysplasia, but weak in ossifying fibroma lesions. Second, we performed PCR analysis with peptide nucleic acid (PNA) for mutations at the Arg(201) codon of the alpha subunit of the stimulatory G protein gene (GNAS), which has reported to be a marker for extragnathic fibrous dysplasia. All nine cases of extragnathic or gnathic fibrous dysplasia were positive for this mutation. On the other hand, none of the five cases of ossifying fibroma showed the mutation. These findings indicate that although fibrous dysplasia and ossifying fibroma are similar disease entities, especially in the demonstration of the osteogenic lineage in stromal fibroblast-like cells, they show distinct differences that can be revealed by immunohistochemical detection of osteocalcin expression. Furthermore, PCR analysis with PNA for GNAS mutations at the Arg(201) codon is a useful method to differentiate between

  1. In vitro studies on clonal growth of chondrocytes in thanatophoric dysplasia

    SciTech Connect

    Brenner, R.E.; Bartmann, P.; Terinde, R.

    1996-05-17

    Thanatophoric dysplasia (TD) is characterized by a disorganized growth plate with markedly reduced proliferative and hypertrophic cartilage zones. Therefore, we studied in vitro the proliferation rates of articular chondrocytes from five TD patients and age-matched controls in response to bFGF, IGF-I, IGF-II, and TGF-{beta}1. In human fetal controls bFGF was the most potent growth factor. Clonal growth of articular chondrocytes in response to bFGF was reduced in two of five TD patients and slightly below the range of controls in a third case. Stimulation of chondrocyte proliferation by IGF I and II was reduced in the patient whose response to bFGF was most markedly impaired. The effect of TGF-{beta}1 ranged from normal to slightly elevated values in TD fetuses. These results indicate heterogeneity of the underlying defects in TD. Low proliferative responses of chondrocytes to bFGF and IGF-I/II are likely to play a key role in the pathogenesis of some cases. In two of five patients studied, the mechanisms of bFGF and IGF-signal transduction are candidates for the primary molecular defect. 22 refs., 6 tabs.

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

    PubMed

    Tüysüz, Beyhan; Gazioğlu, Nurperi; Ungür, Savaş; Aji, Dolly Yafet; Türkmen, Seval

    2009-01-01

    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.

  3. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

    PubMed Central

    2012-01-01

    Background Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown. Methods We reviewed the records of 65 patients with SMARCAL1 mutations. Molecular and immunohistochemical analyses were conducted on autopsy tissue from 4 SIOD patients. Results Thirty-two of 63 patients had signs of arteriosclerosis and 3 of 51 had signs of emphysema. The arteriosclerosis was characterized by intimal and medial hyperplasia, smooth muscle cell hyperplasia and fragmented and disorganized elastin fibers, and the pulmonary disease was characterized by panlobular enlargement of air spaces. Consistent with a cell autonomous disorder, SMARCAL1 was expressed in arterial and lung tissue, and both the aorta and lung of SIOD patients had reduced expression of elastin and alterations in the expression of regulators of elastin gene expression. Conclusions This first comprehensive study of the vascular and pulmonary complications of SIOD shows that these commonly cause morbidity and mortality and might arise from impaired elastogenesis. Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD. PMID:22998683

  4. Alteration in Endoglin-Related Angiogenesis in Refractory Cytopenia with Multilineage Dysplasia

    PubMed Central

    del Rey, Mónica; Pericacho, Miguel; Velasco, Soraya; Lumbreras, Eva; López-Novoa, José Miguel

    2013-01-01

    The functional mechanisms involved in angiogenesis and the potential role of endoglin (ENG), recently described as a new marker for this process, have not been explored in Myelodysplastic Syndromes (MDS). In order to gain insight in MDS angiogenesis a combined analysis in bone marrow (BM) of gene expression levels, angiogenesis-related soluble factors and functional angiogenesis-related studies was carried out. Ninety-seven MDS patients and forty-two normal BM samples were studied. The morphology of the capillary-like structures originated by two endothelial cells lines in the BM environment of patients with refractory cytopenia with multilineage dysplasia (RCMD) was different from those of the remaining MDS. In addition, the BM mononuclear cells from RCMD patients displayed over-expression of VEGF, HIF and FN1 while they showed reduced expression of ENG in contrast to the normal ENG expression of the remaining low-risk MDS and the high expression of ENG in high-risk MDS subtype. Moreover, higher soluble ENG and soluble FLT-1 levels in BM microenvironment were observed in RCMD cases, which distinguished them from other individuals. Therefore, the present study suggests that the patterns of angiogenesis are different between the MDS subtypes. The differences in angiogenesis observed in RCMD patients could be related to ENG abnormalities. PMID:23341958

  5. Cortical feature analysis and machine learning improves detection of "MRI-negative" focal cortical dysplasia.

    PubMed

    Ahmed, Bilal; Brodley, Carla E; Blackmon, Karen E; Kuzniecky, Ruben; Barash, Gilad; Carlson, Chad; Quinn, Brian T; Doyle, Werner; French, Jacqueline; Devinsky, Orrin; Thesen, Thomas

    2015-07-01

    Focal cortical dysplasia (FCD) is the most common cause of pediatric epilepsy and the third most common lesion in adults with treatment-resistant epilepsy. Advances in MRI have revolutionized the diagnosis of FCD, resulting in higher success rates for resective epilepsy surgery. However, many patients with histologically confirmed FCD have normal presurgical MRI studies ('MRI-negative'), making presurgical diagnosis difficult. The purpose of this study was to test whether a novel MRI postprocessing method successfully detects histopathologically verified FCD in a sample of patients without visually appreciable lesions. We applied an automated quantitative morphometry approach which computed five surface-based MRI features and combined them in a machine learning model to classify lesional and nonlesional vertices. Accuracy was defined by classifying contiguous vertices as "lesional" when they fell within the surgical resection region. Our multivariate method correctly detected the lesion in 6 of 7 MRI-positive patients, which is comparable with the detection rates that have been reported in univariate vertex-based morphometry studies. More significantly, in patients that were MRI-negative, machine learning correctly identified 14 out of 24 FCD lesions (58%). This was achieved after separating abnormal thickness and thinness into distinct classifiers, as well as separating sulcal and gyral regions. Results demonstrate that MRI-negative images contain sufficient information to aid in the in vivo detection of visually elusive FCD lesions.

  6. Ectodermal dysplasias: a new clinical-genetic classification

    PubMed Central

    Priolo, M.; Lagana, C.

    2001-01-01

    The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some conditions, with mental retardation.
The anomalies affecting the epidermis and epidermal appendages are extremely variable and clinical overlap is present among the majority of EDs. Most EDs are defined by particular clinical signs (for example, eyelid adhesion in AEC syndrome, ectrodactyly in EEC). To date, few causative genes have been identified for these diseases.
We recently reviewed genes known to be responsible for EDs in light of their molecular and biological function and proposed a new approach to EDs, integrating both molecular-genetic data and corresponding clinical findings. Based on our previous report, we now propose a clinical-genetic classification of EDs, expand it to other entities in which no causative genes have been identified based on the phenotype, and speculate on possible candidate genes suggested by associated "non-ectodermal" features.


Keywords: ectodermal dysplasia; clinical-functional correlation; epithelial-mesenchymal interaction; ectodermal structural proteins PMID:11546825

  7. Differential Genetic Regulation of Canine Hip Dysplasia and Osteoarthritis

    PubMed Central

    Zhang, Zhiwu; Zhao, Keyan; Zhu, Lan; Guo, Gang; Friedenberg, Steve G.; Hunter, Linda S.; Vandenberg-Foels, Wendy S.; Hornbuckle, William E.; Krotscheck, Ursula; Corey, Elizabeth; Moise, Nancy S.; Dykes, Nathan L.; Li, Junya; Xu, Shangzhong; Du, Lixin; Wang, Yachun; Sandler, Jody; Acland, Gregory M.; Lust, George; Todhunter, Rory J.

    2010-01-01

    Background Canine hip dysplasia (HD) is a common polygenic trait characterized by hip malformation that results in osteoarthritis (OA). The condition in dogs is very similar to developmental dysplasia of the human hip which also leads to OA. Methodology/Principal Findings A total of 721 dogs, including both an association and linkage population, were genotyped. The association population included 8 pure breeds (Labrador retriever, Greyhounds, German Shepherd, Newfoundland, Golden retriever, Rottweiler, Border Collie and Bernese Mountain Dog). The linkage population included Labrador retrievers, Greyhounds, and their crosses. Of these, 366 dogs were genotyped at ∼22,000 single nucleotide polymorphism (SNP) loci and a targeted screen across 8 chromosomes with ∼3,300 SNPs was performed on 551 dogs (196 dogs were common to both sets). A mixed linear model approach was used to perform an association study on this combined association and linkage population. The study identified 4 susceptibility SNPs associated with HD and 2 SNPs associated with hip OA. Conclusion/Significance The identified SNPs included those near known genes (PTPRD, PARD3B, and COL15A1) reported to be associated with, or expressed in, OA in humans. This suggested that the canine model could provide a unique opportunity to identify genes underlying natural HD and hip OA, which are common and debilitating conditions in both dogs and humans. PMID:20949002

  8. Evaluation of the Effect of Two Different Systemic Doses of Viola Odorata on Prevention of Induced Tongue Dysplasia in Rats

    PubMed Central

    Helli, Sanaz; Damghani, Hossein; Mohajeri, Daryoush; Mesgari Abbasi, Mehran; Attaran, Rana; Zahed, Maryam

    2016-01-01

    Statement of the Problem Oral cancer is among the ten most common cancers worldwide. It affects the life quality of patients in many ways. Purpose The aim of this study was to compare the effects of two different systemic doses of Viola Odorata syrup on the prevention of 4-Nitroquinoline-1-oxide (4-NQO) induced tongue dysplasia in rats. Materials and Method Forty-eight male Wistar rats were divided into four groups of A, B, C and D. Group A served as the control group. The rats in groups B to D received 30 ppm of 4-NQO in drinking water for 12 weeks. Additionally, the rats in groups B and C received Viola Odorata syrup at doses of 15 and 5 ml/kg, respectively, 3 times a week. Body weights were measured three times a week. At the end, the rats were euthanized and the tongue was removed. Histological evaluations for carcinogenesis were carried out under a light microscope. Results The mean body weight of the rats in groups B, C, and D were lower than that in group A (p< 0.01). After 12 weeks of treatment, microscopically no histological changes of the tongue base epithelia were observed in the control group. The rats in group B did not show severe dysplastic changes; only mild to moderate histological changes including hyperplasia and hyperkeratosis were evident. These incidences were significantly more apparent in groups C with moderate to severe changes (p< 0.05) and group D with severe dysplastic changes (p< 0.01). Almost all rats in group D had hyperplasia and manifested all of the stages of dysplasia. Conclusion Viola Odorata extract has dose-dependent inhibitory effects on the development of tongue induced dysplasia. PMID:27602393

  9. Autologous mesenchymal stem cell (MSCs) transplantation for critical-sized bone defect following a wide excision of osteofibrous dysplasia

    PubMed Central

    Dilogo, Ismail Hadisoebroto; Kamal, Achmad Fauzi; Gunawan, Bambang; Rawung, Rangga Valentino

    2015-01-01

    Introduction Osteofibrous dysplasia is a rare non-neoplastic disease that is almost exclusive to pediatric tibial diaphysis. Wide excision of the lesion is recommended to avoid recurrence. However, such radical surgery will results in large segmental bone defects that will require further extensive reconstructive surgery. We report a novel approach of treating bone defect by implementing the diamond concept of bone healing using autologous bone marrow derived mesenchymal stem cells (BM-MSCs). Presentation of case An eight-year-old Indonesian male presented with severe bowing deformity of the left lower leg. Radiographic and histological analysis confirmed the diagnosis of osteofibrous dysplasia. A wide excision of the defect was made leaving a critical-sized bone defect. A combination of autologous transplantation of 50 million BM-MSCs, hydroxyapatite (HA) granules, bone morphogenic protein 2 (BMP-2) and Djoko-Zarov hybrid circular external fixator was used to treat the defect. The outcomes measured were subjective complaints, functionality based on LEFS and radiological assessments. Discussion Radiographic assessments showed successful new bone tissue formation and integration of implanted HA granules. The external fixator was removed at 42 weeks after adequate callus formation and clinical stability was achieved. The patient underwent progressive functional improvements and reached a near normal functionality of 90% LEFS at 84 week. No therapy side effect or complication was reported. Conclusion Osteofibrous dysplasia was successfully excised without signs of recurrence after 84-week follow-up. Autologous transplantation of augmented BM-MSCs has successfully created new normal bone tissue without causing any side effect and had significantly improved the patient’s quality of life. PMID:26599503

  10. Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

    PubMed Central

    Wang, Li; Lin, Qiong-Fen; Wang, Hong-Yang; Guan, Jing; Lan, Lan; Xie, Lin-Yi; Yu, Lan; Yang, Ju; Zhao, Cui; Liang, Jin-Long; Zhou, Han-Lin; Yang, Huan-Ming; Xiong, Wen-Ping; Zhang, Qiu-Jing; Wang, Da-Yong; Wang, Qiu-Ju

    2017-01-01

    Background: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. Methods: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was performed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial HDR syndrome cases analyzed were provided. Results: In Chinese family 7121, a heterozygous nonsense mutation c.826C>T (p.R276*) was identified in GATA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases (30%) and two thirds of them were found to carry premature stop mutations. Conclusions: This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated. PMID:28303854

  11. Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

    PubMed Central

    Jin, Lingling; Liu, Yi; Sun, Fanyue; Collins, Michael T.; Blackwell, Keith; Woo, Albert S.; Reichenberger, Ernst J.; Hu, Ying

    2017-01-01

    Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. One Caucasian family with seven affected members exhibited frequent bone fractures and florid osseous dysplasia (p.Cys356Tyr), while one Chinese family with two affected members suffered from cementoma and purulent osteomyelitis (p.Cys360Tyr). In addition, two different novel mutations (p.Gly518Glu and p.Arg215Gly) were identified in sporadic patients without family history. In vitro studies overexpressing GDD mutations (p.Cys356Tyr and p.Cys360Tyr) showed significantly reduced ANO5 protein. It appears that all GDD mutations known so far locate in an extracellular domain following the first transmembrane domain or in the 4th putative transmembrane domain. Both wild-type and mutant ANO5 protein localize to the endoplasmic reticulum. After Ano5 gene knock-down with shRNA in MC3T3-E1 osteoblast precursors we saw elevated expression of osteoblast-related genes such as Col1a1, osteocalcin, osterix and Runx2 as well as increased mineral nodule formation in differentiating cells. Our data suggest that ANO5 plays a role in osteoblast differentiation. PMID:28176803

  12. Acupoint Injection of Autologous Stromal Vascular Fraction and Allogeneic Adipose-Derived Stem Cells to Treat Hip Dysplasia in Dogs

    PubMed Central

    Marx, Camila; Silveira, Maiele Dornelles; Selbach, Isabel; da Silva, Ariel Silveira; Braga, Luisa Maria Gomes de Macedo; Camassola, Melissa; Nardi, Nance Beyer

    2014-01-01

    Stem cells isolated from adipose tissue show great therapeutic potential in veterinary medicine, but some points such as the use of fresh or cultured cells and route of administration need better knowledge. This study aimed to evaluate the effect of autologous stromal vascular fraction (SVF, n = 4) or allogeneic cultured adipose-derived stem cells (ASCs, n = 5) injected into acupuncture points in dogs with hip dysplasia and weak response to drug therapy. Canine ASCs have proliferation and differentiation potential similar to ASCs from other species. After the first week of treatment, clinical evaluation showed marked improvement compared with baseline results in all patients treated with autologous SVF and three of the dogs treated with allogeneic ASCs. On days 15 and 30, all dogs showed improvement in range of motion, lameness at trot, and pain on manipulation of the joints, except for one ASC-treated patient. Positive results were more clearly seen in the SVF-treated group. These results show that autologous SVF or allogeneic ASCs can be safely used in acupoint injection for treating hip dysplasia in dogs and represent an important therapeutic alternative for this type of pathology. Further studies are necessary to assess a possible advantage of SVF cells in treating joint diseases. PMID:25180040

  13. Treatment protocols for growth hormone-secreting pituitary adenomas combined with craniofacial fibrous dysplasia: A case report of atypical McCune-Albright syndrome.

    PubMed

    Xu, Jia; Li, Xi; Lv, Chang-Sheng; Chen, Ying; Wang, Meng; Liu, Jian-Feng; Gui, Lai

    2014-09-01

    McCune-Albright syndrome (MAS) is a rare, post-zygotic (non-germline) disorder, characterized by hypersecretory endocrinopathies, fibrous dysplasia of the bone and café-au-lait macules. The most common endocrine dysfunction is gonadal hyperfunction; thus, hypersecretion of growth hormones (GHs) as a manifestation of endocrine hyperfunction in MAS is rarely reported. MAS affects both genders, although the majority of cases have been reported in young females. Atypical presentations of MAS, with only one or two of the classic symptoms, have been previously described, but remain particularly challenging due to the lack of a diagnostic phenotype. In patients with atypical MAS, analysis of mutations in the gene of the α-subunit of the stimulatory G-protein is limited; thus, diagnosis is based on clinical judgment. In the present study, a male with polyostotic fibrous dysplasia and GH-secreting pituitary adenomas, diagnosed with atypical MAS, was reported. The pituitary adenoma was effectively treated with radiotherapy and the patient underwent surgery for the polyostotic fibrous dysplasia, with marked improvements observed in appearance.

  14. Fibrous Dysplasia with Massive Cartilaginous Differentiation (Fibrocartilaginous Dysplasia) in the Proximal Femur: A Case Report and Review of the Literature

    PubMed Central

    Morioka, Hideo; Kamata, Yasuhiro; Nishimoto, Kazumasa; Susa, Michiro; Kikuta, Kazutaka; Horiuchi, Keisuke; Sasaki, Aya; Kameyama, Kaori; Nakamura, Masaya; Matsumoto, Morio

    2016-01-01

    Fibrous dysplasia (FD) is a monostotic or polyostotic benign bone lesion with spindle-cell proliferation in woven bone and stroma. Rarely, cartilaginous differentiation can be seen in the lesions of FD. FD with massive cartilaginous differentiation is called fibrocartilaginous dysplasia (FCD) and is considered a rare variant of FD. Although pathological findings of FD show irregular immature bone formation without osteoblastic rimming in fibrous tissue, and rarely show very small amounts of cartilage, histological images of FCD are said to show that cartilage with a relatively high cell density is present in the majority and that FD-like findings are seen in parts of it. The most characteristic feature of FCD on images is calcification in the lesions reflecting cartilaginous tissue. On the other hand, typical radiographic findings of FD include shadows with a ground-glass appearance and thinning and bulging of the cortical bone, the observation if calcification is not usual. Therefore, in the diagnosis of FCD, differentiation from multiple enchondromatosis, Ollier disease, chondrosarcoma, and chondrosarcoma secondary to FD is necessary, and it seems important to make a careful diagnosis based not only on the pathological findings but also on imaging and clinical findings. Herein, we report on a case of FD of the proximal femur associated with intralesional extensive carti laginous differentiation in which a pathological fracture occurred during follow-up, with a review of the literature. PMID:27293399

  15. Body mass index, serum total cholesterol, and risk of gastric high-grade dysplasia: A case-control study among Chinese adults.

    PubMed

    Huang, Ya-Kai; Kang, Wei-Ming; Ma, Zhi-Qiang; Liu, Yu-Qin; Zhou, Li; Yu, Jian-Chun

    2016-08-01

    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 and 356 women) and 902 controls (543 men and 359 women) were enrolled from January 2000 to October 2015. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated, and a multivariate analysis was conducted.After adjusting for age, alcohol consumption, smoking status, family history of gastric cancer or esophageal cancer, and serum total cholesterol level, a BMI ranging from 27.5 to 29.9 was significantly related to an increased risk of gastric high-grade dysplasia in both men (adjusted OR = 1.87, 95% CI = 1.24-2.81) and women (adjusted OR = 2.72, 95% CI = 1.44-5.16). The 2 highest BMI categories (27.5-29.9 and ≥30.0) were identified as risk factors for gastric cardia high-grade dysplasia in both men (BMI = 27.5-29.9: adjusted OR = 1.78, 95% CI = 1.02-3.10; BMI ≥ 30.0: adjusted OR = 2.54, 95% CI = 1.27-5.08) and women (BMI = 27.5-29.9: adjusted OR = 2.88, 95% CI = 1.27-6.55; BMI ≥ 30.0: adjusted OR = 2.77, 95% CI = 1.36-5.64), whereas only a BMI ranging from 27.5 to 29.9 was a risk factor for gastric noncardia high-grade dysplasia in both men (adjusted OR = 1.98, 95% CI = 1.25-3.14) and women (adjusted OR = 2.88, 95% CI = 1.43-5.81). In addition, higher serum total cholesterol was associated with an increased risk of gastric noncardia high-grade dysplasia (adjusted OR = 1.83, 95% CI = 1.25-2.69) in women.Increased BMI was associated with an increased risk of gastric high-grade dysplasia in

  16. Pamidronic acid and cabergoline as effective long-term therapy in a 12-year-old girl with extended facial polyostotic fibrous dysplasia, prolactinoma and acromegaly in McCune-Albright syndrome: a case report

    PubMed Central

    2012-01-01

    Introduction McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dysplasia, typically involving the facial skull, numerous café-au-lait spots and autonomous hyperfunctions of several endocrine systems, leading to hyperthyroidism, hypercortisolism, precocious puberty and acromegaly. Case presentation Here, we describe a 12-year-old Caucasian girl with severe facial involvement of fibrous dysplasia, along with massive acromegaly due to growth hormone excess and precocious puberty, with a prolactinoma. Our patient was treated with a bisphosphonate and the prolactin antagonist, cabergoline, resulting in the inhibition of fibrous dysplasia and involution of both the prolactinoma and growth hormone excess. During a follow-up of more than two years, no severe side effects were noted. Conclusion Treatment with bisphosphonates in combination with cabergoline is a suitable option in patients with McCune-Albright syndrome, especially in order to circumvent surgical interventions in patients suffering from polyostotic fibrous dysplasia involving the skull base. PMID:22273876

  17. Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia.

    PubMed

    Kobayashi, Keisuke; Imanishi, Yasuo; Koshiyama, Hiroyuki; Miyauchi, Akimitsu; Wakasa, Kenichi; Kawata, Takehisa; Goto, Hitoshi; Ohashi, Hirotsugu; Koyano, Hajime M; Mochizuki, Ryuichi; Miki, Takami; Inaba, Masaaki; Nishizawa, Yoshiki

    2006-04-11

    Fibrous dysplasia (FD) patients sometimes suffer from concomitant hypophosphatemic rickets/osteomalacia, resulting from renal phosphate wasting. It was recently reported that FD tissue in the patients with McCune-Albright syndrome (MAS) expressed fibroblast growth factor-23 (FGF-23), which is now known to be as a pathogenic phosphaturic factor in patients with oncogenic osteomalacia and X-linked hypophosphatemic rickets. Since it remains controversial whether serum phosphate levels are influenced by FGF23 expressions in FD tissue, isolated FD patients without MAS syndrome were examined for the relationship between FGF23 expressions, circulating levels of FGF-23 and phosphate to negate the effects of MAS-associated endocrine abnormalities on serum phosphate. Eighteen paraffin embedded FD tissues and 2 frozen tissues were obtained for the study. Sixteen of 18 isolated FD tissues were successfully analyzed GNAS gene, which exhibited activated mutations observed in MAS. Eight of 16 FD tissues, which exhibited GNAS mutations, revealed positive staining for FGF-23. These evidence indicate that postzygotic activated mutations of GNAS is necessary for the FD tissue formation by mosaic distribution of mutated osteogenic cell lineage, but is not sufficient to elevate FGF23 expression causing generalized osteomalacia with severe renal phosphate wasting. The expression level of FGF23 in isolated FD tissue with hypophosphatemic osteomalacia determined by real-time PCR was abundant close to the levels in OOM tumors. Osteoblasts/osteocytes in woven bone were predominant source of circulating FGF-23 in FD tissues by immunohistochemistry. A negative correlation of the intensity of FGF-23 staining with serum inorganic phosphate levels indicated that the expression of FGF23 in focal FD tissues could be a prominent determinant of serum phosphate levels in isolated FD patient. These data provide novel insights into the regulatory mechanism of serum inorganic phosphate levels in

  18. Contributions of EEG-fMRI to Assessing the Epileptogenicity of Focal Cortical Dysplasia

    PubMed Central

    Pittau, Francesca; Ferri, Lorenzo; Fahoum, Firas; Dubeau, François; Gotman, Jean

    2017-01-01

    Purpose: To examine the ability of the BOLD response to EEG spikes to assess the epileptogenicity of the lesion in patients with focal cortical dysplasia (FCD). Method: Patients with focal epilepsy and FCD who underwent 3T EEG-fMRI from 2006 to 2010 were included. Diagnosis of FCD was based on neuroradiology (MRI+), or histopathology in MRI-negative cases (MRI−). Patients underwent 120 min EEG-fMRI recording session. Spikes similar to those recorded outside the scanner were marked in the filtered EEG. The lesion (in MRI+) or the removed cortex (in MRI−) was marked on the anatomical T1 sequence, blindly to the BOLD response, after reviewing the FLAIR images. For each BOLD response we assessed the concordance with the spike field and with the lesion in MRI+ or the removed cortex in MRI−. BOLD responses were considered “concordant” if the maximal t-value was inside the marking. Follow-up after resection was used as gold-standard. Results: Twenty patients were included (13 MRI+, 7 MRI−), but in seven the EEG was not active or there were artifacts during acquisition. In all 13 studied patients, at least one BOLD response was concordant with the spike field; in 9/13 (69%) at least one BOLD response was concordant with the lesion: in 6/7 (86%) MRI+ and in 3/6 (50%) MRI− patients. Conclusions: Our study shows a high level of concordance between FCD and BOLD response. This data could provide useful information especially for MRI negative patients. Moreover, it shows in almost all FCD patients, a metabolic involvement of remote cortical or subcortical structures, corroborating the concept of epileptic network. PMID:28265244

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

    PubMed Central

    SILVA, Brunno Santos de Freitas; de CASTRO, Caroline Alves; VON ZEIDLER, Sandra Lúcia Ventorin; de SOUSA, Suzana Cantanhede Orsini Machado; BATISTA, Aline Carvalho; YAMAMOTO-SILVA, Fernanda Paula

    2015-01-01

    Objective The current study aimed to investigate the β-catenin expression in oral leukoplakia (OL) with different degrees of epithelial dysplasia and normal oral mucosa. Material and Methods Formalin-fixed, paraffin-embedded tissue samples of 39 OL (mild dysplasia n=19, moderate dysplasia n=13, and severe dysplasia n=7), and 10 normal oral mucosa (control group) were submitted to immunohistochemical reactions to anti-β-catenin primary antibody. A qualitative β-catenin analysis was performed based on the percentage of positive cells. The cellular location and the epithelial layer were also considered. The Chi-square test and the Fisher’s exact test were used to verify possible differences in the β-catenin expression among the OL groups. A p-value of <0.05 was considered statistically significant. Results Membranous expression of β-catenin in parabasal and basal layers was gradually lost in the higher degrees of epithelial dysplasia. In normal oral mucosa, β-catenin was detected only in the cytoplasmic membrane. However, a significant increase in cytoplasmic β-catenin could be observed between mild and moderate dysplasia (Fisher Exact test - p<0.001) and between mild and severe dysplasia (p<0.001). Conclusions The β-catenin cytoplasmic expression observed in this study may represent the initial stage of modifications in the E-cadherin-catenin complex, along with morphological cellular changes. PMID:26537717

  20. Seasonal variation in adult hip disease secondary to osteoarthritis and developmental dysplasia of the hip

    PubMed Central

    Sueyoshi, Tatsuya; Ritter, Merrill A; Davis, Kenneth E; Loder, Randall T

    2016-01-01

    AIM To determine if there was a seasonal variation in adults undergoing total hip arthroplasty for end stage hip disease due to osteoarthritis (OA) or sequelae of developmental dysplasia of the hip (DDH). METHODS The total hip registry from the author’s institution for the years 1969 to 2013 was reviewed. The month of birth, age, gender, and ethnicity was recorded. Differences between number of births observed and expected in the winter months (October through February) and non-winter mo (March through September) were analyzed with the χ2 test. Detailed temporal variation was mathematically assessed using cosinor analysis. RESULTS There were 7792 OA patients and 60 DDH patients who underwent total hip arthroplasty. There were more births than expected in the winter months for both the DDH (P < 0.0001) and OA (P = 0.0052) groups. Cosinor analyses demonstrated a peak date of birth on 1st October. CONCLUSION These data demonstrate an increased prevalence of DDH and OA in those patients born in winter. PMID:28032035

  1. Surgical treatment of developmental dysplasia of the hip in adults: II. Arthroplasty options.

    PubMed

    Sanchez-Sotelo, Joaquin; Berry, Daniel J; Trousdale, Robert T; Cabanela, Miguel E

    2002-01-01

    Total hip arthroplasty is the procedure of choice for most patients with symptomatic end-stage coxarthrosis secondary to hip dysplasia. The anatomic abnormalities associated with the dysplastic hip increase the complexity of hip arthroplasty. When pelvic bone stock allows, it is desirable to reconstruct the socket at or near the normal anatomic acetabular location. To obtain sufficient bony coverage of the acetabular component, the socket can be medialized or elevated, or a lateral bone graft can be applied. Uncemented acetabular components allow biologic fixation with potentially improved results compared with cemented cups, especially in young patients. The location of the acetabular reconstruction and the desired leg length influence the type of femoral reconstruction. Cemented and uncemented implants can be used in femoral reconstruction, depending on the clinical situation. Femoral shortening is required in some cases and can be performed by metaphyseal resection with a greater trochanteric osteotomy and advancement or by a shortening subtrochanteric osteotomy. The results of total hip arthroplasty demonstrate a high rate of pain relief and functional improvement. The long-term durability of cemented total hip arthroplasty reconstruction in these patients is inferior to that in the general population. The results of uncemented implants are promising, but only limited early and midterm data are available.

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

    PubMed

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

    2016-09-01

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

  3. Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.

    PubMed

    Kwee, M L; van de Sluijs, J A; van Vugt, J M G; Wijnaendts, L C D; Gille, J J P

    2004-08-01

    A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type. Prenatal diagnosis by ultrasound examination early in the pregnancy was possible. We found no evidence for a SHOX gene deletion or point mutation. As far as we know this is the third reported family with this skeletal dysplasia.

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

    PubMed

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

    2016-08-05

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

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

    PubMed

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

    2014-11-01

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

  6. Developing a better and practical definition of bronchopulmonary dysplasia.

    PubMed

    Meyer, Sascha; Franz, Axel R; Bay, Johannes; Gortner, Ludwig

    2017-02-14

    The synopsis by Hines et al reports various definitions of bronchopulmonary dysplasia (BPD) (1). We agree there is a need to harmonise the definition of BPD and our definition (2) was adapted from the National Institute of Child Health and Human Development network definition by Jobe and Bancalari (3) It incorporates important aspects that have evolved over time, such as the use of high-flow nasal cannulas, and takes into account differences between clinical centres, including different target oxygen saturations. Our definition covers two aspects: evolving BPD measured in days, and the assessment of definite BPD at a postmenstrual age of 36 weeks. This article is protected by copyright. All rights reserved.

  7. Hyperostotic Esthesioneuroblastoma: Rare Variant and Fibrous Dysplasia Mimicker

    PubMed Central

    Knott, Phillip Daniel

    2014-01-01

    A 65-year-old male presented with a 3-year history of orbital symptoms. An imaging-based diagnosis of fibrous dysplasia involving the skull base was made at another institution. CT showed a diffuse sinonasal mass and ground-glass appearance of the bones of the anterior skull base with bony defects and mucocele formation. MRI demonstrated an accompanying intracranial and orbital rind of soft tissue mass along the hyperostotic bones. FDG-PET showed corresponding intense hypermetabolism. Small cysts were observed at the tumor-brain interface. Biopsy revealed esthesioneuroblastoma with bone infiltration that is compatible with the hyperostotic variant of esthesioneuroblastoma. There are a few cases of hyperostotic esthesioneuroblastoma reported in the literature. PMID:24497807

  8. Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?

    PubMed Central

    Rodriguez, Maria Matilde; Correa-Medina, Mayrin; Whittington, Elizabeth E.

    2015-01-01

    Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith–Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy. Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB. PMID:25871299

  9. Is there a link between osteofibrous dysplasia and adamantinoma?

    PubMed

    Ramanoudjame, M; Guinebretière, J-M; Mascard, E; Seringe, R; Dimeglio, A; Wicart, P

    2011-12-01

    Because of the relative frequency of osteofibrous dysplasia (OFD) and the gravity of adamantinoma, it is important to know whether there is a link between these two entities. A young boy had been followed from the age of 5 years for OFD of the right tibia. At the age of 10, biopsy performed because of pain, revealed OFD-like adamantinoma. Surgery was undertaken, with en bloc proximal tibial resection of 14 cm and reconstruction by free vascularized fibula and internal fixation. This observation illustrates the risk of evolution of OFD-like adamantinoma, showing the same unfavorable evolution as classic adamantinoma. Strict surveillance is mandatory in OFD, with systematic biopsy in case of onset of pain or increased tumor volume.

  10. Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia

    PubMed Central

    Cladiere-Nassif, Victoire; Delaroche, Caroline; Pottier, Edwige; Feron, Jean-Marc

    2015-01-01

    We report a case of a 75-year-old woman presenting a hitherto undescribed condition of bilateral second carpal row duplication. She was diagnosed in childhood with both Marfan and Ehlers-Danlos syndromes, with no clear evidence and no further medical follow-up. She presented throughout her life with various articular symptoms, which appeared to be compatible with a diagnosis of multiple epiphyseal dysplasia, and underwent several surgical procedures on her knees and hips. Most recently, she was reporting pain at the base of the fifth metacarpal bone of the left hand. X-ray images and computed tomography (CT) were obtained for exploration and showed a total second row duplication in both carpi, with a total number of 18 carpal bones in each wrist. PMID:26649258

  11. Clinical guidelines for the management of craniofacial fibrous dysplasia

    PubMed Central

    2012-01-01

    Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement of normal bone and marrow by fibrous tissue and woven bone. The phenotype is variable and may be isolated to a single skeletal site or multiple sites and sometimes is associated with extraskeletal manifestations in the skin and/or endocrine organs (McCune-Albright syndrome). The clinical behavior and progression of FD may also vary, thereby making the management of this condition difficult with few established clinical guidelines. This paper provides a clinically-focused comprehensive description of craniofacial FD, its natural progression, the components of the diagnostic evaluation and the multi-disciplinary management, and considerations for future research. PMID:22640797

  12. Advances in paediatric pulmonary vascular disease associated with bronchopulmonary dysplasia.

    PubMed

    Rossor, Thomas; Greenough, Anne

    2015-02-01

    Pulmonary hypertension (PH) is a common finding in infants with bronchopulmonary dysplasia (BPD). The aim of this review is to describe recent advances in the diagnosis and treatment of PH and discuss whether they will benefit infants and children with BPD related PH. Echocardiography remains the mainstay of diagnosis but has limitations, further developments in diagnostic techniques and identification of biomarkers are required. There are many potential therapies for PH associated with BPD. Inhaled nitric oxide has been shown to improve short term outcomes only. Sidenafil in resource limited settings was shown in three randomized trials to significantly reduce mortality. The efficacy of other therapies including prostacyclin, PDE3 inhibitors and endothelin receptor blockers has only been reported in case reports or case series. Randomized controlled trials with long term follow up are required to appropriately assess the efficacy of therapies aimed at improving the outcome of children with PH.

  13. Molecular basis of hypohidrotic ectodermal dysplasia: an update.

    PubMed

    Trzeciak, Wieslaw H; Koczorowski, Ryszard

    2016-02-01

    Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal transduction from ectoderm to mesenchyme during development of the fetus and are indispensable for the differentiation of ectoderm-derived structures such as eccrine sweat glands, teeth, hair, skin, and/or nails. Novel data were reviewed and discussed on the structure and functions of the components of TNFα-related signaling pathway, the consequences of mutations of the genes encoding these proteins, and the prospect for further investigations, which might elucidate the origin of HED.

  14. The chondrocytic journey in endochondral bone growth and skeletal dysplasia.

    PubMed

    Yeung Tsang, Kwok; Wa Tsang, Shun; Chan, Danny; Cheah, Kathryn S E

    2014-03-01

    The endochondral bones of the skeleton develop from a cartilage template and grow via a process involving a cascade of chondrocyte differentiation steps culminating in formation of a growth plate and the replacement of cartilage by bone. This process of endochondral ossification, driven by the generation of chondrocytes and their subsequent proliferation, differentiation, and production of extracellular matrix constitute a journey, deviation from which inevitably disrupts bone growth and development, and is the basis of human skeletal dysplasias with a wide range of phenotypic severity, from perinatal lethality to progressively deforming. This highly coordinated journey of chondrocyte specification and fate determination is controlled by a myriad of intrinsic and extrinsic factors. SOX9 is the master transcription factor that, in concert with varying partners along the way, directs the different phases of the journey from mesenchymal condensation, chondrogenesis, differentiation, proliferation, and maturation. Extracellular signals, including bone morphogenetic proteins, wingless-related MMTV integration site (WNT), fibroblast growth factor, Indian hedgehog, and parathyroid hormone-related peptide, are all indispensable for growth plate chondrocytes to align and organize into the appropriate columnar architecture and controls their maturation and transition to hypertrophy. Chondrocyte hypertrophy, marked by dramatic volume increase in phases, is controlled by transcription factors SOX9, Runt-related transcription factor, and FOXA2. Hypertrophic chondrocytes mediate the cartilage to bone transition and concomitantly face a live-or-die situation, a subject of much debate. We review recent insights into the coordination of the phases of the chondrocyte journey, and highlight the need for a systems level understanding of the regulatory networks that will facilitate the development of therapeutic approaches for skeletal dysplasia.

  15. Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?

    PubMed Central

    Al Kaissi, Ali; Ben Ghachem, Maher; Ben Chehida, Farid; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

    2016-01-01

    Background We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. Methods Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschondrosteosis syndrome with no exostoses was evident in three family subjects. The rest of the family subjects manifested with normal height, and yet multiple exostoses. In this family, the skeletal manifestations were sufficiently variable for the presentation to be with either short stature or scoliosis, a Madelung’ deformity, or with severe hallux valgus associated with exostosis and with Leri-Weill dyschondrosteosis syndrome. Results Subjects with structural chromosomal aberrations of the proband IV-7, who manifested with normal height but with multiple exostoses were excluded via 20 CAG-banded mitoses (there were no microdeletions or microduplication after performing Array-CGH-analysis). In addition, DNA examination for subject IV-8 (male cousin of the proband showed short stature and Leri-Weill dyschondrosteosis syndrome) revealed no evidence of SHOX deletions. Conclusion We described a multigenerational non-consanguineous North African family , in which mesomelic dysplasia, whose clinical and radiological phenotypes resembled dyschondrosteosis, was a prominent feature in three family subjects. Multiple exostoses were evident in several other family subjects (most were with normal height). We would like to emphasize the variability in the phenotypic expression of multiple exostosis, especially the confusion that might arise when the condition appears both clinically and radiologically to be more complicated, and the overall picture might then be overlapped with one of the other bone dysplasias such as Leri-Weill dyschondrosteosis syndrome. PMID:27429682

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

    NASA Astrophysics Data System (ADS)

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

    2015-03-01

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

  17. Treatment of sphenoid dysplasia with a titanium-reinforced porous polyethylene implant in orbitofrontal neurofibroma: report of three cases.

    PubMed

    Niddam, Jeremy; Bosc, Romain; Suffee, Tabrez M; Le Guerinel, Caroline; Wolkenstein, Pierre; Meningaud, Jean-Paul

    2014-12-01

    Orbital manifestations occur in less than 1% of patients with neurofibromatosis type 1 (NF1). These manifestations are frequently associated with sphenoid wing dysplasia. The typical radiologic feature is partial or total loss of the greater wing of the sphenoid bone, which leads to herniation of the temporal lobe through the orbital cavity resulting in proptosis and pulsating exophthalmos. Traditional reconstruction of this bone defect involves split bone grafting or titanium mesh. However, these techniques have some limitations due to bone resorption and infection risk. We report the use of 0.85 mm titanium-reinforced porous polyethylene implant sheet in three cases of orbital neurofibromatosis with sphenoid dysplasia. The role of this material was to create a barrier between the brain and orbital cavity. The implant sheet was modeled intraoperatively to reconstruct the orbital cavity anatomy and fitted without any screws. The malleability of the implant allows quick reconstruction of the curved orbital skeleton. Furthermore, the implant doesn't interfere with postoperative imaging and may decrease risk infection.

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

    PubMed

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

    2015-10-01

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

  19. Investigating the biochemical progression of liver disease through fibrosis, cirrhosis, dysplasia, and hepatocellular carcinoma using Fourier transform infrared spectroscopic imaging

    NASA Astrophysics Data System (ADS)

    Sreedhar, Hari; Pant, Mamta; Ronquillo, Nemencio R.; Davidson, Bennett; Nguyen, Peter; Chennuri, Rohini; Choi, Jacqueline; Herrera, Joaquin A.; Hinojosa, Ana C.; Jin, Ming; Kajdacsy-Balla, Andre; Guzman, Grace; Walsh, Michael J.

    2014-03-01

    Hepatocellular carcinoma (HCC) is the most common form of primary hepatic carcinoma. HCC ranks the fourth most prevalent malignant tumor and the third leading cause of cancer related death in the world. Hepatocellular carcinoma develops in the context of chronic liver disease and its evolution is characterized by progression through intermediate stages to advanced disease and possibly even death. The primary sequence of hepatocarcinogenesis includes the development of cirrhosis, followed by dysplasia, and hepatocellular carcinoma.1 We addressed the utility of Fourier Transform Infrared (FT-IR) spectroscopic imaging, both as a diagnostic tool of the different stages of the disease and to gain insight into the biochemical process associated with disease progression. Tissue microarrays were obtained from the University of Illinois at Chicago tissue bank consisting of liver explants from 12 transplant patients. Tissue core biopsies were obtained from each explant targeting regions of normal, liver cell dysplasia including large cell change and small cell change, and hepatocellular carcinoma. We obtained FT-IR images of these tissues using a modified FT-IR system with high definition capabilities. Firstly, a supervised spectral classifier was built to discriminate between normal and cancerous hepatocytes. Secondly, an expanded classifier was built to discriminate small cell and large cell changes in liver disease. With the emerging advances in FT-IR instrumentation and computation there is a strong drive to develop this technology as a powerful adjunct to current histopathology approaches to improve disease diagnosis and prognosis.

  20. Esophagectomy as a Treatment Consideration for Early-Stage Esophageal Cancer and High-Grade Dysplasia.

    PubMed

    McLaren, Patrick J; Dolan, James P

    2016-10-01

    In recent years, a number of endoluminal procedures such as endoscopic resection and thermal ablation have emerged as less invasive treatment options for early esophageal cancer. These therapies have demonstrated excellent oncologic outcomes for dysplasia as well as intramucosal cancers. However, few studies have directly compared long-term outcomes of endoscopic therapy versus traditional esophagectomy. Current esophagectomy techniques now deliver consistently good outcomes in the hands of experienced surgeons at high volume centers, and this option should be considered an important treatment consideration for early esophageal cancer. Under current recommendations, esophagectomy should be considered for tumors invading the submucosa, tumors with high-risk pathologic features, bulky tumors, multinodular tumors, tumors within a long segment of Barrett's esophagus, and tumors adjacent to a hiatal hernia. Likewise, individual patient factors and comorbidities must also be considered when determining the best treatment for a patient with early esophageal cancer. The risk of missing metastatic disease or recurrence that is associated with endoscopic treatment must be weighed against the surgical risks of esophagectomy. With these considerations in mind, the aim of this article is to review the current guidelines and literature that explore the role of esophagectomy for early esophageal malignancy in the era of endoscopic therapies.

  1. Imaging assessment of glenohumeral dysplasia secondary to brachial plexus birth palsy*

    PubMed Central

    Chagas-Neto, Francisco Abaete; Dalto, Vitor Faeda; Crema, Michel Daoud; Waters, Peter M.; Gregio-Junior, Everaldo; Mazzer, Nilton; Nogueira-Barbosa, Marcello Henrique

    2016-01-01

    Objective To assess imaging parameters related to the morphology of the glenohumeral joint in children with unilateral brachial plexus birth palsy (BPBP), in comparison with those obtained for healthy shoulders. Materials and Methods We conducted a retrospective search for cases of unilateral BPBP diagnosed at our facility. Only patients with a clinical diagnosis of unilateral BPBP were included, and the final study sample consisted of 10 consecutive patients who were assessed with cross-sectional imaging. The glenoid version, the translation of the humeral head, and the degrees of glenohumeral dysplasia were assessed. Results The mean diameter of the affected humeral heads was 1.93 cm, compared with 2.33 cm for those of the normal limbs. In two cases, there was no significant posterior displacement of the humeral head, five cases showed posterior subluxation of the humeral head, and the remaining three cases showed total luxation of the humeral head. The mean glenoid version angle of the affected limbs (90-α) was -9.6º, versus +1.6º for the normal, contralateral limbs. Conclusion The main deformities found in this study were BPBP-associated retroversion of the glenoid cavity, developmental delay of the humeral head, and posterior translation of the humeral head. PMID:27403013

  2. Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

    PubMed Central

    Møller, Rikke S.; Weckhuysen, Sarah; Chipaux, Mathilde; Marsan, Elise; Taly, Valerie; Bebin, E. Martina; Hiatt, Susan M.; Prokop, Jeremy W.; Bowling, Kevin M.; Mei, Davide; Conti, Valerio; de la Grange, Pierre; Ferrand-Sorbets, Sarah; Dorfmüller, Georg; Lambrecq, Virginie; Larsen, Line H.G.; Leguern, Eric; Guerrini, Renzo; Rubboli, Guido; Cooper, Gregory M.

    2016-01-01

    Objective: To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies. Methods: We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel sequencing. Germline mutations in MTOR were assessed in a French research cohort of 93 probands with focal epilepsies and in a diagnostic Danish cohort of 245 patients with a broad range of epilepsies. Data sharing among collaborators allowed us to ascertain additional germline variants in MTOR. Results: We detected recurrent somatic variants (p.Ser2215Phe, p.Ser2215Tyr, and p.Leu1460Pro) in the MTOR gene in 37% of participants with FCD II and showed histologic evidence for activation of the mTORC1 signaling cascade in brain tissue. We further identified 5 novel de novo germline missense MTOR variants in 6 individuals with a variable phenotype from focal, and less frequently generalized, epilepsies without brain malformations, to macrocephaly, with or without moderate intellectual disability. In addition, an inherited variant was found in a mother–daughter pair with nonlesional autosomal dominant nocturnal frontal lobe epilepsy. Conclusions: Our data illustrate the increasingly important role of somatic mutations of the MTOR gene in FCD and germline mutations in the pathogenesis of focal epilepsy syndromes with and without brain malformation or macrocephaly. PMID:27830187

  3. Computer aided diagnosis and treatment planning for developmental dysplasia of the hip

    NASA Astrophysics Data System (ADS)

    Li, Bin; Lu, Hongbing; Cai, Wenli; Li, Xiang; Meng, Jie; Liang, Zhengrong

    2005-04-01

    The developmental dysplasia of the hip (DDH) is a congenital malformation affecting the proximal femurs and acetabulum that are subluxatable, dislocatable, and dislocated. Early diagnosis and treatment is important because failure to diagnose and improper treatment can result in significant morbidity. In this paper, we designed and implemented a computer aided system for the diagnosis and treatment planning of this disease. With the design, the patient received CT (computed tomography) or MRI (magnetic resonance imaging) scan first. A mixture-based PV partial-volume algorithm was applied to perform bone segmentation on CT image, followed by three-dimensional (3D) reconstruction and display of the segmented image, demonstrating the special relationship between the acetabulum and femurs for visual judgment. Several standard procedures, such as Salter procedure, Pemberton procedure and Femoral Shortening osteotomy, were simulated on the screen to rehearse a virtual treatment plan. Quantitative measurement of Acetabular Index (AI) and Femoral Neck Anteversion (FNA) were performed on the 3D image for evaluation of DDH and treatment plans. PC graphics-card GPU architecture was exploited to accelerate the 3D rendering and geometric manipulation. The prototype system was implemented on PC/Windows environment and is currently under clinical trial on patient datasets.

  4. Clinical and immunohistochemical characteristics of type II and type I focal cortical dysplasia

    PubMed Central

    Yao, Kun; Duan, Zejun; Zhou, Jian; Li, Lin; Zhai, Feng; Dong, Yanting; Wang, Xiaoyan; Ma, Zhong; Bian, Yu; Qi, Xueling; Li, Liang

    2016-01-01

    Focal cortical dysplasia (FCD) II and I are major causes for drug-resistant epilepsy. In order to gain insight into the possible correlations between FCD II and FCD I, different clinical characteristics and immunohistochemical expression characteristics in FCD I and II were analyzed. The median age of onset and duration of epilepsy in FCD I and FCD II patients were 2.1 years and 5.3 years vs 2.4 years and 4.5 years. Therefore, the median age of onset and duration of epilepsy were similar in the two groups. Pathological lesions were predominantly located in frontal lobe in FCD II and temporal in FCD I. Significantly more signal abnormalities in FLAIR and T2 images were demonstrated in FCD II than FCD I. The rate of satisfied seizure outcome was relative higher in FCDII patients (95.12%) than that in FCDI group (84.6%). Furthermore, we detected expressions of progenitor cell proteins and the mammalian target of rapamycin (mTOR) cascade activation protein in FCDs. Results showed that sex-determiningregion Y-box 2(SOX2), Kruppel-likefactor 4 (KLF4) and phospho-S6 ribosomal proteins (ser240/244 or ser235/236) were expressed in FCDII group but not in FCD I. Overall, this study unveils FCD I and II exhibit distinct clinical and immunohistochemical expression characteristics, revealing different pathogenic mechanisms. PMID:27811355

  5. New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.

    PubMed Central

    Camera, G; Stella, G; Camera, A

    1994-01-01

    We report on a probably new form of spondyloepimetaphyseal dysplasia (SEMD) with an X linked inheritance pattern. Eight males were affected in the same family. We were able to examine three adult patients and we studied the skeletal radiological aspect of one of these patients at 2 years 6 months and at 9 years of age. The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence. Radiologically, the diaphyses of all the long bones are short and broad. The epiphyses of the distal portion of the femora and those of the proximal and distal portions of the tibia are embedded in their metaphyses and there is marked narrowing of the intercondylar groove. There is moderate platyspondyly. Several vertebrae show an anterior tongue in infancy and severe irregularities of the upper and lower surfaces are present in adulthood. The 11th or 12th thoracic vertebra is wedge shaped. The pelvis is narrow. The distal ulnae and fibulae are disproportionately long. The hands show radial deviation and brachydactyly is present in the hands and feet. This X linked SEMD was not detectable at birth. Images PMID:8064814

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

    PubMed Central

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

    2016-01-01

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

  7. The WNT10A gene in Ectodermal Dysplasias and Selective Tooth Agenesis

    PubMed Central

    Mues, Gabriele; Bonds, John; Xiang, Lilin; Vieira, Alexandre R.; Seymen, Figen; Klein, Ophir; D’Souza, Rena N.

    2014-01-01

    Mutations in the WNT10A gene were first detected in the rare syndrome odonto-onycho-dermal dysplasia (OODD, OMIM257980) but have now also been found to cause about 35-50% of selective tooth agenesis (STHAG4, OMIM150400), a common disorder that mostly affects the permanent dentition. In our random sample of tooth agenesis patients, 40 percent had at least one mutation in the WNT10A gene. The WNT10A Phe228Ile variant alone reached an allele frequency of 0.21 in the tooth agenesis cohort, about 10 times higher than the allele frequency reported in large SNP data bases for Caucasian populations. Patients with bi-allelic WNT10A mutations have severe tooth agenesis while heterozygous individuals are either unaffected or have a mild phenotype. Mutations in the coding areas of the WNT10B gene which is co-expressed with WNT10A during odontogenesis, and the WNT6 gene which is located at the same chromosomal locus as WNT10A in humans, do not contribute to the tooth agenesis phenotype. PMID:24700731

  8. Hypothyroidism in McCune-Albright Syndrome and Role of Bone Scan in Management of Fibrous Dysplasia: An Unusual Case Scenario with Review of Literature.

    PubMed

    Kumar, Narvesh; Kheruka, Subhash Chand; Singh, Rani Kunti R; Ravina, Mudalsha; Dutta, Deepanksha; Gambhir, Sanjay

    2017-01-01

    The McCune-Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible. Bone scan can be the modality of choice to look for bone disease burden of fibrous dysplasia in most patients of MAS and may change the management accordingly. Most of the cases of MAS reported worldwide are associated with hyperthyroidism, up to best of our knowledge on the basis of literature search in pubmed and Google; no case was reported with hypothyroidism. Herein, we report a 12-year-old girl diagnosed with MAS and associated hypothyroidism. We have also reviewed the MAS related literature.

  9. Hypothyroidism in McCune–Albright Syndrome and Role of Bone Scan in Management of Fibrous Dysplasia: An Unusual Case Scenario with Review of Literature

    PubMed Central

    Kumar, Narvesh; Kheruka, Subhash Chand; Singh, Rani Kunti R.; Ravina, Mudalsha; Dutta, Deepanksha; Gambhir, Sanjay

    2017-01-01

    The McCune–Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible. Bone scan can be the modality of choice to look for bone disease burden of fibrous dysplasia in most patients of MAS and may change the management accordingly. Most of the cases of MAS reported worldwide are associated with hyperthyroidism, up to best of our knowledge on the basis of literature search in pubmed and Google; no case was reported with hypothyroidism. Herein, we report a 12-year-old girl diagnosed with MAS and associated hypothyroidism. We have also reviewed the MAS related literature. PMID:28242980

  10. IMP3 expression in lesions of the biliary tract: a marker for high-grade dysplasia and an independent prognostic factor in bile duct carcinomas.

    PubMed

    Riener, Marc-Oliver; Fritzsche, Florian R; Clavien, Pierre-Alain; Pestalozzi, Bernhard C; Probst-Hensch, Nicole; Jochum, Wolfram; Kristiansen, Glen

    2009-10-01

    The oncofetal protein IMP3 (insulin-like growth factor II mRNA binding protein 3) is expressed during embryogenesis and carcinogenesis. Various tumor types have been analyzed for IMP3 expression, which was exclusively found in tumor cells and correlated with increased tumor aggressiveness and reduced overall survival. To our knowledge, IMP3 expression has not been investigated in bile duct carcinomas. Using large tissue sections from resection specimens of the extrahepatic biliary tract, we analyzed IMP3 in normal bile ducts (n = 36), bile ducts with acute inflammation and reactive epithelial changes (n = 26), low-grade dysplasia (n = 9), and high-grade dysplasia (n = 11). Furthermore, IMP3 expression was assessed in bile duct carcinoma (n = 115) using clinically well-characterized tissue microarrays. The findings were correlated with clinical-pathologic parameters including survival. High-grade dysplasia was strongly positive for IMP3 in all cases studied compared with no or weak expression in normal, inflamed, and low-grade dysplastic bile ducts. Of the bile duct carcinomas 58.3% (67/115) were strongly positive for IMP3, which was associated with a higher proliferation rate (P = .004) and p53 positivity (P = .022). Patients with strong IMP3 expression had significantly reduced overall survival (P = .037) similarly to the subgroup of pT3 carcinomas (P = .007). In multivariate analysis, IMP3 expression was an independent prognostic factor for overall survival (P = .040, RR = 1.809). This comprehensive study shows that IMP3 is an independent prognostic biomarker in bile duct carcinoma. In addition, it may be a marker for high-grade dysplasia in the extrahepatic biliary tract.

  11. Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

    PubMed Central

    Bogaert, R.; Wilkin, D.; Wilcox, W. R.; Lachman, R.; Rimoin, D.; Cohn, D. H.; Eyre, D. R.

    1994-01-01

    Kniest dysplasia is a heritable chondrodysplasia that severely affects skeletal growth. Recent evidence suggests that the etiology is based on mutations in COL2A1, the gene for collagen type II. We report the detection and partial characterization of an identical defect in type II collagen in two unrelated patients with Kniest dysplasia. Analysis of cyanogen bromide (CB)-digested cartilage samples from both probands by SDS-PAGE revealed an abnormal band for peptide alpha 1(II)CB12. The peptide was purified and digested with endoproteinase Asp-N. Fragments unique to the Kniest tissues were identified by reverse-phase high-pressure liquid chromatography and by sequence analysis. The results established a deletion of amino acids 102-108 of the alpha 1(II) triple-helical domain, which disrupted the (gly-X-Y)n repeat needed for helix formation. This was confirmed by sequence analysis of DNA amplified from both probands, revealing the molecular basis to be a single nucleotide mutation at a CpG dinucleotide (GCG-->GTG) in the codon for alanine 102. The mutation created a new splice donor site, which would account for the absence of the last seven amino acids from the 3' end of exon 12 in alpha 1(II)CB12. Light and electron micrographs of the probands' cartilage showed the perilacunar foamy matrix ("Swiss cheese") characteristic of Kniest dysplasia and chondrocytes containing dilated rough endoplasmic reticulum, which earlier studies had shown were filled with type II procollagen. These two cases strengthen the concept that Kniest dysplasia is based on mutations of COL2A1 and belongs within the broad spectrum of chondrodysplasias caused by type II collagenopathies. Images Figure 1 Figure 2 Figure 3 Figure 6 Figure 7 Figure 8 PMID:7977371

  12. Case report 207: Giant cell reparative granuloma of left femur arising in polyostatic fibrous dysplasia

    SciTech Connect

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

    1982-08-01

    Diagnosis and differential diagnosis of lytic lesions in the femur are discussed. Roentgenograms, a tomogram and pathological studies of a giant cell reparative granuloma of left femur arising in polyostotic fibrous dysplasia are presented.

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

    ERIC Educational Resources Information Center

    Robinson, Geoffrey C.; And Others

    1973-01-01

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

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and 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. PMID:26488291

  16. Multispectral scanning during endoscopy guides biopsy of dysplasia in Barrett's esophagus.

    PubMed

    Qiu, Le; Pleskow, Douglas K; Chuttani, Ram; Vitkin, Edward; Leyden, Jan; Ozden, Nuri; Itani, Sara; Guo, Lianyu; Sacks, Alana; Goldsmith, Jeffrey D; Modell, Mark D; Hanlon, Eugene B; Itzkan, Irving; Perelman, Lev T

    2010-05-01

    Esophageal cancer is increasing in frequency in the United States faster than any other cancer. Barrett's esophagus, an otherwise benign complication of esophageal reflux, affects approximately three million Americans and precedes almost all cases of esophageal cancer. If detected as high-grade dysplasia (HGD), most esophageal cancers can be prevented. Standard-of-care screening for dysplasia uses visual endoscopy and a prescribed pattern of biopsy. This procedure, in which a tiny fraction of the affected tissue is selected for pathological examination, has a low probability of detection because dysplasia is highly focal and visually indistinguishable. We developed a system called endoscopic polarized scanning spectroscopy (EPSS), which performs rapid optical scanning and multispectral imaging of the entire esophageal surface and provides diagnoses in near real time. By detecting and mapping suspicious sites, guided biopsy of invisible, precancerous dysplasia becomes practicable. Here we report the development of EPSS and its application in several clinical cases, one of which merits special consideration.

  17. Sequential Supernumerary Teeth Development in a Non-Syndromic Patient; Report of a Rare Case

    PubMed Central

    Jafarian, Mohammad; Nazemi, Bahareh; Bargrizan, Majid; Ramezani, Jamileh; Ansari, Ghassem

    2013-01-01

    Isolated impacted supernumerary teeth are quite rare, but they can be seen associated with several syndromes such as cleidocranial dysostosis or Gardner’s syndrome. This article aims to discuss a case of sequential formation of supernumerary teeth with no other associated disease or syndrome. A 17-year-old Iranian male with 8 impacted supernumerary teeth was referred to the department of pediatric dental clinic at Shahid Beheshti Medical University in Tehran with a history of several impacted unerupted teeth. Repeated and periodical clinical and radiographic examinations revealed newly formed teeth buds in unusual dental ages. All extra teeth were associated with generalized enamel hypoplasia to some degree on their relative permanent adjacent teeth. The patient did not have any record of a systemic disease or any syndromic condition to relate his dental problem to. This rare condition involved repeated and continued formation of extra teeth out of the normal numbers and dental age evident in serial radiographs. PMID:24910667

  18. Abnormal platelet von Willebrand factor (vWF) as a marker of abnormal function in megakaryocytic dysplasia.

    PubMed

    de Cataldo, F; Baudo, F; Redaelli, R; Corno, A R

    1995-03-01

    The myelodysplastic syndromes (MDS) are neoplastic disorders of the hemopoietic system; multilineage involvement is also evidenced by specific cellular dysfunctions. The von Willebrand factor (vWF), synthesized and processed in the megakaryocytes (MK), is stored in the alpha granules of the platelets. The platelet vWF multimeric pattern was studied in 18 patients with MDS, and in 4 with pernicious anemia (PA), to investigate whether the processing of vWF is abnormal in the megakaryocytic dysplasia. An abnormal multimeric pattern was observed in 10/18 MDS and 4/4 PA patients. The abnormality of this specific protein is the discrete expression of the basic disorder, and is reversible when hemopoiesis is normalized. Although the data do not allow any conclusion, abnormal synthesis is the likely explantation of the abnormality.

  19. [Chronic intestinal pseudo-obstruction due to intestinal neuronal dysplasia type B (IND B), concerning one case].

    PubMed

    Junquera Bañares, S; Oria Mundín, E; Córdoba Iturriagagoitia, A; Botella-Carretero, J J

    2014-01-01

    Intestinal neuronal dysplasia type B (IND B) is an infrequent disease due to hyperplasia of the parasympathetic submucous plexus which causes alteration of intestinal motility, giving rise to symptoms of constipation and subocclusive manifestations. The disease is difficult to diagnose. It requires high clinical suspicion and should include differential diagnosis of patients with repeated subocclusive manifestations in order to make an early and correct diagnosis and avoid complications derived from unnecessary surgery that worsens the prognosis. We present the case of a 33-year-old Moroccan male who was admitted to our hospital on 2 occasions in 11 months, requiring total parenteral nutrition (TPN) for five months. The immunohistochemical analysis of the ileostomy and colostomy stoma led to a diagnosis of IND B. Eighteen months later, the patients is leading a normal life and has recovered the 25 kilos lost following the dietary indications and with the enzymatic supplements.

  20. Comparisons and Limitations of Current Definitions of Bronchopulmonary Dysplasia for the Prematurity and Respiratory Outcomes Program

    PubMed Central

    Feng, Rui; Schmidt, Barbara; Aschner, Judy L.; Ballard, Roberta A.; Hamvas, Aaron; Reynolds, Anne Marie; Shaw, Pamela A.; Jobe, Alan H.

    2015-01-01

    Rationale: Bronchopulmonary dysplasia is the most common morbidity of prematurity, but the validity and utility of commonly used definitions have been questioned. Objectives: To compare three commonly used definitions of bronchopulmonary dysplasia in a contemporary prospective, multicenter observational cohort of extremely preterm infants. Methods: At 36 weeks postmenstrual age, the following definitions of bronchopulmonary dysplasia were applied to surviving infants with and without imputation: need for supplemental oxygen (Shennan definition), National Institutes of Health Workshop definition, and “physiologic” definition after a room-air challenge. Measurements and Main Results: Of 765 survivors assessed at 36 weeks, bronchopulmonary dysplasia was diagnosed in 40.8, 58.6, and 32.0% of infants, respectively, with the Shennan, workshop and physiologic definitions. The number of unclassified infants was lowest with the workshop definition (2.1%) and highest with the physiologic definition (16.1%). After assigning infants discharged home in room air before 36 weeks as no bronchopulmonary dysplasia, the modified Shennan definition compared favorably to the workshop definition, with 2.9% unclassified infants. Newer management strategies with nasal cannula flows up to 4 L/min or more and 0.21 FiO2 at 36 weeks obscured classification of bronchopulmonary dysplasia status in 12.4% of infants. Conclusions: Existing definitions of bronchopulmonary dysplasia differ with respect to ease of data collection and number of unclassifiable cases. Contemporary changes in management of infants, such as use of high-flow nasal cannula, limit application of existing definitions and may result in misclassification. A contemporary definition of bronchopulmonary dysplasia that correlates with respiratory morbidity in childhood is needed. Clinical trial registered with www.clinicaltrials.gov (NCT01435187). PMID:26397992