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Sample records for cleidocranial dysplasia patients

  1. Familial Cleidocranial Dysplasia

    PubMed Central

    Jindal, MK; Maheshwari, Sandhya

    2010-01-01

    Cleidocranial dysplasia or mutational dysostosis or cleidocranial dysostosis is a generalized skeletodental dysplastic disorder, inherited in an autosomal dominant pattern. The expression of this disorder can vary widely in severity, even within the same family. This is a relatively rare disease and has no standard effective treatment option as of yet. Here we present a case report of affected mother and son with classical manifestations of the disease.

  2. 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

  3. Broad Spectrum of Skeletal Malformation Complex in Patients with Cleidocranial Dysplasia Syndrome: Radiographic and Tomographic Study

    PubMed Central

    Al Kaissi, Ali; Ben Chehida, Farid; Kenis, Vladimir; Ganger, Rudolf; Radler, Christof; Hofstaetter, Jochen G.; Klaushofer, Klaus; Grill, Franz

    2013-01-01

    Purpose Cleidocranial dysplasia is an autosomal dominant disorder characterized by defective ossification of the intramembraneous ossification (primarily the clavicles, cranium, and pelvis), and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. Spine deformities were of progressive nature and considered to be the major orthopedic abnormalities encountered in our practice in patients with cleidocranial dysplasia. We aimed to further delineate the underlying spine pathology and its etiological understanding. Extraspinal deformities were dealt with respectively. Material and methods In this paper, we describe 7 patients who were consistent with the phenotypic and the genotypic characterization of cleidocranial dysplasia. Reformatted computed tomography (CT) scans have been applied in several instances to further understand the underlying pathology of progressive spine tilting. Radiographs were sufficient to illustrate other skeletal malformations. Results Anatomical survey demonstrates that a broad spectrum of frequently unrecognized orthopedic aberrations were encountered. We believe that torticollis has evolved in connection with the persistence of synchondrosis of the skull base and the upper cervical spine and these are strongly correlated to the well-known pathology of posterior occipital synchondrosis. Similarly, scoliosis and kyphoscoliosis resulted from the pathologic aberration of the cartilaginous stage of disrupted embryological development. All our results are discussed for the first time. Coxa vara, patellar dysplasia, and genu valgum were observed as extraspinal deformities. Conclusion This paper includes for the first time the anatomical analysis of the malformation complex of the craniocervical and the entire spine in patients with cleidocranial dysplasia. Reformatted CT scan was the modality of choice. We were able to illustrate that the persistence of skull base and the cervical spine synchondrosis were

  4. 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

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

    PubMed Central

    Jung, Young Taek; Cho, Jae Ik

    2015-01-01

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

  6. Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia.

    PubMed

    Zhang, Chenying; Zheng, Shuguo; Wang, Yixiang; Zhao, Yuming; Zhu, Junxia; Ge, Lihong

    2010-11-01

    Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific transcription factor-encoding gene, RUNX2. To correlate different RUNX2 mutations with CCD clinical spectrum, we studied six independent Chinese CCD patients. In five patients, mutations were detected in the coding region of the RUNX2 gene, including two frameshift mutations and three missense mutations. Of these mutations, four were novel and one had previously been reported. All the detected mutations were exclusively clustered within the Runt domain that affected conserved residues in the Runt domain. In vitro green fluorescent protein fusion studies showed that the three mutations--R225L, 214fs and 172fs--interfered with nuclear accumulation of RUNX2 protein, while T200I mutation had no effect on the subcellular distribution of RUNX2. There was no marked phenotypic difference between patients in craniofacial and clavicles features, while the expressivity of supernumerary teeth in our patient cohort had a striking variation, even among family members. The occurrence of intrafamilial clinical variability raises the view that hypomorphic effects and genetic modifiers may alter the clinical expressivity of these mutations. Our results provide new genetic evidence that mutations involved in RUNX2 contribute to CCD. PMID:20702542

  7. 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

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

    PubMed

    Bharti, Kusum; Goswami, Mridula

    2016-05-01

    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

  9. Cleidocranial dysplasia: a report of two cases.

    PubMed

    Mehta, D N; Vachhani, R V; Patel, M B

    2011-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia. It commonly presents with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth, and often with the presence of supernumerary teeth. We report two cases showing clinical and radiographic features of CCD. PMID:21985884

  10. Cleidocranial dysplasia with autosomal dominant inheritance pattern.

    PubMed

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

    2014-07-01

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

  11. Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern

    PubMed Central

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

    2014-01-01

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

  12. RUNX2 mutations in cleidocranial dysplasia.

    PubMed

    Lee, K-E; Seymen, F; Ko, J; Yildirim, M; Tuna, E B; Gencay, K; Kim, J-W

    2013-01-01

    The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicle formation, short stature, and dental anomalies, including malocclusion, supernumerary teeth, and delayed eruption of permanent teeth. In this study, we recruited three de novo CCD families and performed mutational analysis of the RUNX2 gene as a candidate gene approach. The mutational study revealed three disease-causing mutations: a missense mutation (c.674G>A, p.Arg225Gln), a frameshift mutation (c.1119delC, p.Arg374Glyfs*), and a nonsense mutation (c.1171C>T, p.Arg391*). Clinical examination revealed a unique dental phenotype (no typical supernumerary teeth, but duplication of anterior teeth) in one patient. We believe that this finding will broaden the understanding of the mechanism of supernumerary teeth formation and CCD-related phenotypes. PMID:24222232

  13. [Pierre Marie-Sainton cleidocranial dysplasia].

    PubMed

    Diaconescu, Smaranda; Păduraru, Gabriela; Vâscu, Ana-Maria; Burlea, M

    2011-01-01

    The paper presents a family with hereditary transmitted Marie-Sainton dysplasia affecting the father and his both children. This is a rare syndrome presenting an autosomal pattern of inheritance, characterized by a generalized defect in both membranous and endochondral bone formation resulting in clavicular aplasia, delayed ossification of the fontanelles and the sutures of the skull and prolonged retention of deciduous dentition with delayed eruption of the permanent teeth. The diagnosis is suggested by more or less complete clinical picture and confirmed by multiple radiological explorations (skull, thorax, spinal column, pelvis) and genetical examination. The genetic mutation for cleidocranial dysplasia (CCD) is found on chromosome six and is called CBFA1 (short for core biding factor al or RUNX2) and is the only gene known to be associated with CCD. The normal version of CBFA1 acts to induce osteoblasts which are the type of cells that lay down bone. Although associated psychosocial disorders can occur, the prognosis and life expectancy of this condition are favorable being conditioned however by the complexity of orthodontic procedures which are determinant for these patients life quality. PMID:21870721

  14. 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

  15. 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

  16. Cleidocranial dysplasia: report of six clinical cases.

    PubMed

    Martins, Rosemary Baptista; de Souza, Ricardo Salgado; Giovani, Elcio Magdalena

    2014-01-01

    Cleidocranial dysplasia (CCD) is an autosomal-dominant disorder that occurs due to mutations in the Cbfa 1 gene, also called Runx 2, located on the short arm of chromosome 6, affecting osteoblast skeletal-specific bones that have intramembranous ossification. This condition is characterized by hypoplastic clavicles, short stature, and great clinical significance in the stomatognathic complex, with involvement of facial bones, changes in the eruption patterns, including multiple supernumerary and retained teeth. This study reports six subjects of the same family with CCD identified in the Dentistry Clinic of Oral Diagnosis Department, Universidade Paulista, Campus Sorocaba, Sao Paulo State, Brazil. All cases had clinical and radiographic aspects of this important condition, such as short stature, hypertelorism, severe mobility of the shoulders, and supernumerary and retained teeth. Due to the rare incidence and phenotypic manifestations, CCD can be easily misdiagnosed. The oral commitments are one of the main (functional and aesthetic) causes of complaints in these subjects; and a dentist must establish the diagnosis as early as possible, followed by behaviors and practices that can minimize harmful manifestations of the syndrome and improve health associated with oral and multidisciplinary integration offering improvements in quality of life of these subjects. PMID:24712510

  17. Cleidocranial Dysplasia Case Report: Remodeling of Teeth as Aesthetic Restorative Treatment

    PubMed Central

    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. PMID:25045546

  18. Osteoclastogenic potential of peripheral blood mononuclear cells in cleidocranial dysplasia.

    PubMed

    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.

  19. An assessment of root cementum in cleidocranial dysplasia.

    PubMed

    Counts, A L; Rohrer, M D; Prasad, H; Bolen, P

    2001-08-01

    The purpose of this prospective study was to determine if there is a difference between the amount of cellular and acellular cementum on the roots of 2 teeth extracted from a subject with cleidocranial dysplasia (CCD) compared to 10 teeth extracted from 10 subjects unaffected by CCD. The cementum of 2 permanent teeth, which had been extracted from the CCD subject, was examined and histomorphometrically analyzed for comparison to the cementum of 10 anterior teeth that had been extracted from individuals who were unaffected by CCD. The percentage of the root covered by cellular or acellular cementum was quantified to determine if patients affected by CCD typically lack cellular cementum. In the roots of the 2 permanent teeth of the subject with CCD, a mean of 18.05 +/- 10.67% was covered by cellular cementum and 76.90 +/- 3.53% was covered by acellular cementum. In the 10 permanent teeth from subjects without CCD, a mean of 19.12 +/- 15.60% of the root was covered by cellular cementum and 80.34 +/- 15.71% was covered by acellular cementum. The findings indicate that there is no statistically significant difference between the amount of either cellular or acellular cementum covering the roots of the study subject with CCD and the roots of the 10 control teeth. The presumption that a lack of cellular cementum causes the increased number of unerupted teeth in patients with CCD is not supported by the findings of this study. PMID:11510638

  20. 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.

  1. Clinical and Radiological Evaluation of Cleidocranial Dysplasia in Two Trinidadian Siblings

    PubMed Central

    Bissoon, AK; Moze, K

    2014-01-01

    ABSTRACT Cleidocranial dysplasia is a rare developmental disorder of the skeleton and teeth that may be inherited as an autosomal dominant trait or occur spontaneously. This is a report of two Trinidadian, East Indian brothers aged 13 and 15 years referred from a private dental practice with the chief complaint of retained deciduous teeth. Subsequent clinical and radiographic investigations led to the diagnosis of cleidocranial dysplasia. The clinical and radiographic findings are discussed. PMID:25781294

  2. Severe Cleidocranial dysplasia and Hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2

    PubMed Central

    El-Gharbawy, Areeg H.; Peeden, Joseph N.; Lachman, Ralph S.; Graham, John M.; Moore, Stephen R.; Rimoin, David L.

    2009-01-01

    Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to mutations causing haploinsufficiency of RUNX2, an osteoblast transcription factor specific for bone and cartilage. The classic form of CCD is characterized by delayed closure of the fontanels, hypoplastic or aplastic clavicles and dental anomalies. Clinical reports suggest that a subset of patients with CCD have skeletal changes which mimic hypophosphatasia. Mutations in RUNX2 are detected in approximately 65% of cases of CCD, and microdeletions occur in 13%. We present clinical and radiological features in a 6-year-old child with severe CCD manifested by absence of the clavicles marked calvarial hypomineralization, osteoporosis and progressive kyphoscoliosis. Hypophosphatasia features included Bowdler spurs, severe osteopenia and low alkaline phosphatase. Following negative mutation analysis of RUNX2, comparative genomic hybridization (CGH) microarray was performed. The result revealed a microdeletion in RUNX2, disrupting the C-terminal part of the gene. PMID:20014132

  3. Dental team management for a patient with cleidocranial dysostosis.

    PubMed

    Angle, Anne D; Rebellato, Joe

    2005-07-01

    Cleidocranial dysostosis is a rare autosomal condition that affects ossification. The dental abnormalities associated with it present a remarkable challenge in orthodontic treatment planning. Early diagnosis is extremely important to give the patient the best treatment options. Patients with cleidocranial dysostosis require a team approach with good communication and cooperation from the patient. Timing of the intervention is critical, and many surgeries might be required. The patient in this report was treated with a team effort that involved several dental specialties to achieve an optimal result.

  4. 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.

  5. A family with cleidocranial dysplasia and crossed ectopic kidney in one child.

    PubMed

    Suresh, Saraswathivilasam S

    2009-08-01

    Cleidocranial dysplasia or dysostosis (CCD) is a condition characterised by failure of membranous ossification resulting in absence or pseudarthrosis of the clavicle, open fontanelles, wormian bones and supernumerary teeth. The aetiology though not completely known is thought to be due to a CBFA1 (core binding factor activity 1) gene defect on the short arm of chromosome 6p21. CBFA1 is essential for differentiation of stem cells into osteoblasts, so any defect in this gene will cause defects in membranous and endochondral bone formation. Since the first description, over 700 cases have been reported in literature. The authors report a family with mother and her four sons affected with CCD and Crossed Renal Ectopia (CRE) in one child, which has not been reported in CCD before. PMID:19774820

  6. 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.

  7. A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol

    PubMed Central

    Paul, S. Arun; Simon, S. Sibu; Karthik, A. Kaneesh; Chacko, Rabin K.; Savitha, S.

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition with generalized dysplasia of bone characterized by delayed closure of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities. We report two cases presenting with classical features of CCD because of its rarity. PMID:26538892

  8. Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion

    SciTech Connect

    Gelb, B.D.; Desnick, R.J.; Shevell, M.

    1995-08-28

    Cleidocranial dysplasia (CCD) is a generalized skeletal dysplasia with autosomal dominant inheritance. Recently, the CCD disease locus was localized to 23 and 17 cM regions of chromosome band 6p21 by linkage studies of seven affected families. Of note, the 23 cM region contained a microdeletion detected in one family at D6S459, an interval that was excluded in the 17 cM overlapping region. Here, linkage of CCD to 6p21 was independently confirmed with a maximal two-point LOD score of Z=5.12 with marker D6S452 at {theta}=0.00. Recombinant events in two affected individuals defined a CCD region of 7 cM from D6S465 to D6S282, which overlapped with the CCD region containing the microdeletion but did not overlap with the 17 cM critical region from D6S282 to D6S291. These results suggest the refined localization of the CCD region to 6 cM spanning markers D6S438 to D6S282, thereby reviving the possibility that the CCD gene lies within the microdeletion at D6S459. 13 refs., 2 figs., 1 tab.

  9. Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture.

    PubMed

    Yamasaki, Sachiko; Hamada, Atsuko; Akagi, Eri; Nakatao, Hirotaka; Ohtaka, Manami; Nishimura, Ken; Nakanishi, Mahito; Toratani, Shigeaki; Okamoto, Tetsuji

    2016-02-01

    Human pluripotent stem cells hold great promise for their practical and scientific potentials. To improve understanding of self-renewal and differentiation, we previously reported a defined serum-free medium hESF9 could generate and maintain human induced pluripotent stem cells (iPSCs) in serum- and feeder-free culture conditions using retroviral vectors. To avoid the unpredictable side effects associated with retrovirus integration, we report here the successful generation of hiPSCs from dental pulp cells with a non-integrating replication-defective and persistent Sendai virus (SeVdp) vector expressing four key reprogramming genes. We found that hESF9 medium in combination with fibronectin are effective for generating and maintaining hiPSCs with SeVdp (KOSM). Using this system, pluripotent and self-renewing hiPSCs could be easily and stably generated and propagated. With this system, we successfully generated hiPSCs from cleidocranial dysplasia (CCD) caused by a heterozygous germ-line mutation of runt-related protein2 (RUNX2), which has an important role in the differentiation of osteoblasts and maturation of chondrocytes. This is the first report of the establishment of CCD-specific iPSCs. The cartilage in the teratomas of CCD-iPSCs showed abnormalities. These CCD-iPSCs would be beneficial to clarify the molecular mechanism and for development of medical applications. Moreover, it brings new pathophysiological role of RUNX2 in the differentiation of the human chondrocytes and osteocytes. PMID:26559068

  10. Cbfβ deletion in mice recapitulates cleidocranial dysplasia and reveals multiple functions of Cbfβ required for skeletal development

    PubMed Central

    Chen, Wei; Ma, Junqing; Zhu, Guochun; Jules, Joel; Wu, Mengrui; McConnell, Matthew; Tian, Fei; Paulson, Christie; Zhou, Xuedong; Wang, Lin; Li, Yi-Ping

    2014-01-01

    The pathogenesis of cleidocranial dysplasia (CCD) as well as the specific role of core binding factor β (Cbfβ) and the Runt-related transcription factor (RUNX)/Cbfβ complex in postnatal skeletogenesis remain unclear. We demonstrate that Cbfβ ablation in osteoblast precursors, differentiating chondrocytes, osteoblasts, and odontoblasts via Osterix-Cre, results in severe craniofacial dysplasia, skeletal dysplasia, abnormal teeth, and a phenotype recapitulating the clinical features of CCD. Cbfβf/fOsterix-Cre mice have fewer proliferative and hypertrophic chondrocytes, fewer osteoblasts, and almost absent trabecular bone, indicating that Cbfβ may maintain trabecular bone formation through its function in hypertrophic chondrocytes and osteoblasts. Cbfβf/fCollagen, type 1, alpha 1 (Col1α1)–Cre mice show decreased bone mineralization and skeletal deformities, but no radical deformities in teeth, mandibles, or cartilage, indicating that osteoblast lineage-specific ablation of Cbfβ results in milder bone defects and less resemblance to CCD. Activating transcription factor 4 (Atf4) and Osterix protein levels in both mutant mice are dramatically reduced. ChIP assays show that Cbfβ directly associates with the promoter regions of Atf4 and Osterix. Our data further demonstrate that Cbfβ highly up-regulates the expression of Atf4 at the transcriptional regulation level. Overall, our genetic dissection approach revealed that Cbfβ plays an indispensable role in postnatal skeletal development and homeostasis in various skeletal cell types, at least partially by up-regulating the expression of Atf4 and Osterix. It also revealed that CCD may result from functional defects of the Runx2/Cbfβ heterodimeric complex in various skeletal cells. These insights into the role of Cbfβ in postnatal skeletogenesis and CCD pathogenesis may assist in the development of new therapies for CCD and osteoporosis. PMID:24850862

  11. Genetics Home Reference: cleidocranial dysplasia

    MedlinePlus

    ... knees; and an abnormal curvature of the spine ( scoliosis ). Characteristic facial features may include a wide, short ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

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

    PubMed

    Lialiukova, E A

    2013-01-01

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

  13. Hip dysplasia in the skeletally mature patient.

    PubMed

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

    2014-01-01

    Abnormal hip development causes one-quarter to one-half of all hip disease. Dysplastic hips typically share characteristic anatomic abnormalities. The dysplastic acetabulum is typically shallow, lateralized, and anteverted with insufficient coverage anteriorly, superiorly, and laterally. The dysplastic proximal femur has a small femoral head with excessive femoral neck anteversion and a short neck with an increased neck shaft angle. These characteristic changes result in intraarticular pathology leading to hip arthritis. A variety of treatment options exist based on the degree of dysplasia and the amount of concomitant hip arthritis. Treatment options include hip arthroscopy, acetabular or femoral osteotomies, hip arthrodesis, and total hip arthroplasty. PMID:25150325

  14. Os trigonum syndrome in a patient with multiple epiphyseal dysplasia.

    PubMed

    Molay, M; Wilson, R; Lasker, A

    1982-01-01

    Multiple epiphyseal dysplasia (M.E.D.) is a rare, congenital, developmental condition characterized by epiphyseal abnormalities. Salient features of this condition are discussed. A case history is presented of a patient with os trigonum and coexisting M.E.D. The importance of weight reduction and control of excessive pronatory forces is emphasized in patients with M.E.D., thus reducing chronic microtrauma to foot structures.

  15. Positive gallium-67 citrate uptake in a patient with polyostotic fibrous dysplasia

    SciTech Connect

    Creagh, M.F.; Nunan, T.O.

    1988-04-01

    Fibrous dysplasia is an uncommon bone condition with characteristic radiologic features. It is well known that there is increased uptake of Tc-99m hydroxymethylene diphosphonate (HMDP) and methylene diphosphonate (MDP) in fibrous dysplasia. There are no reports of uptake of Ga-67 citrate by fibrous dysplasia. A case is reported in which positive Ga-67 uptake was seen in a patient with polyostotic fibrous dysplasia.

  16. Cardioangiographic findings in patients with arrhythmogenic right ventricular dysplasia.

    PubMed Central

    Blomström-Lundqvist, C; Selin, K; Jonsson, R; Johansson, S R; Schlossman, D; Olsson, S B

    1988-01-01

    The dimension, contractility, and regional wall motion of the right and left ventricles were scored on the angiograms of 13 patients with arrhythmogenic right ventricular dysplasia. In 10 patients the right ventricle was enlarged, in eight the contractility of the right ventricle was reduced, and in all but one patient there were regional wall motion abnormalities of the right ventricle. The most common abnormality of regional wall motion was mild hypokinesia. There were bulging or dyskinetic areas in seven patients. Regional wall motion abnormalities of the left ventricle were found in five patients, two of whom also had bulging or dyskinetic areas. The reproducibility of right ventricular dimension, contractility, and regional wall motion scores was generally fair but varied unexpectedly both within and between two observers (Kendall's Tau 0.38-0.92). The score values of regional wall motion for some of the segments differed considerably within and between observers. One of the observers consistently gave higher scores than the other. These data suggest that a more objective approach is needed for evaluating angiographic changes in arrhythmogenic right ventricular dysplasia. Images Fig 2 Fig 3 Fig 4 Fig 5 PMID:3382567

  17. 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

  18. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient.

    PubMed

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

    2015-09-01

    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

  19. 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

  20. Cervical dysplasia

    MedlinePlus

    ... HSIL - dysplasia; Low-grade dysplasia; High-grade dysplasia; Carcinoma in situ - dysplasia; CIS - dysplasia; ASCUS - dysplasia; Atypical ... to marked dysplasia CIN III -- severe dysplasia to carcinoma in situ Some strains of HPV are known ...

  1. Genetic skeletal dysplasia in Thailand: the Siriraj experience.

    PubMed

    Wasant, P; Waeteekul, S; Rimoin, D L; Lachman, R S

    1995-01-01

    Genetic skeletal dysplasias are a heterogeneous group of genetic disorders associated with abnormalities in the skeletal system frequently presenting with disproportionate short stature. There are over 100 distinct skeletal dysplasias which have been classified primarily on the basis of the clinical or radiographic characteristics. We have identified many genetic skeletal dysplasia disorders at Department of Pediatrics, Siriraj Hospital, Bangkok, Thailand. We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets. We have established a Genetic Skeletal Dysplasia Clinic at Siriraj Hospital since 1992, and see referrals from around the country. Genetic counseling is provided, including prenatal diagnosis and a multidisciplinary approach.

  2. Magnetic resonance evaluation of acetabular residual dysplasia in developmental dysplasia of the hip: a preliminary study of 27 patients.

    PubMed

    Douira-Khomsi, Wièm; Smida, Mahmoud; Louati, Hela; Hassine, Lilia Ben; Bouchoucha, Sami; Saied, Walid; Ladeb, Mohamed-Fethi; Ghachem, Maher Ben; Bellagha, Ibtissem

    2010-01-01

    Thirty-one hips in 27 young girls, treated for developmental dysplasia of the hip in the authors' institute since 2003, showed persistent radiographic evidence of residual acetabular dysplasia. These hips were registered as candidates for pelvic osteotomy. A prospective study was conducted and these hips were evaluated by magnetic resonance imaging (MRI); the average age of the patients was 5 years. MRI measurement of acetabular angle and acetabular head index in 2 different landmarks (bone and cartilage) was performed. The results were correlated with plain radiographic film evolution. MRI studies revealed sufficient cartilaginous acetabular coverage in 27 hips, cartilaginous acetabular dysplasia in 2 hips, and short acetabulum in 2 others. The 27 hips with thick cartilage of the acetabular roof were subsequently followed up by plain radiographs. The average follow-up period was 2.1 years. The authors observed a spontaneous progressive ossification of the cartilaginous acetabular roof in all the 27 cases. In 4 cases, the correction of the acetabular angle was complete. They concluded that MRI promotes more accurate selection of patients for pelvic osteotomy and aids in the choice of the most appropriate type of osteotomy. Clinical imaging examples are presented and need to be further evaluated.

  3. [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.

  4. [Anesthetic management of a patient with metatropic dysplasia].

    PubMed

    Suzuki, Marie; Niiyama, Yukitoshi; Nawa, Yuko; Yamakage, Michiaki

    2013-02-01

    A 5-year-old girl with metatropic dysplasia was scheduled for an operation of posterior cervical fusion. This disease is a rare skeletal dysplasia characterized by long trunk and short limbs and severe scoliosis. As she had been suspected to have a difficult airway, we attempted fiberoptic intubation with a nasopharyngeal airway to prevent airway obstruction. The nasopharyngeal airway ensured a patent airway sufficient oxygenation, and anesthesia. Thus, it was possible to perform a fiberoptic intubation via the opposite nostril with no adverse event. The combination of a nasopharyngeal airway and fiberoptic guided tracheal intubation is a reliable and safe procedure for small children with metatropic dysplasia and difficult airway. PMID:23479930

  5. Overdenture restoration in a growing patient with hypohidrotic ectodermal dysplasia: a clinical report.

    PubMed

    Pae, Ahran; Kim, Kyu; Kim, Hyeong-Seob; Kwon, Kung-Rock

    2011-03-01

    Ectodermal dysplasia is a hereditary disorder of ectodermal origin. A 12-year-old boy was referred for management of the oral manifestations of his ectodermal dysplasia. An overdenture retained by natural teeth for the maxilla and a double-crown-retained denture for the mandible were made. Double-crown-retained dentures may be modified into complete dentures if the abutment teeth are lost. The patient was instructed to maintain oral hygiene and return periodically for follow-up visits. This report describes a potential routine approach to restoring the appearance, function, and psyche of a growing boy with ectodermal dysplasia.

  6. Craniofacial Fibrous Dysplasia in an Elderly Patient: A Case Report with a Review of Literature

    PubMed Central

    2015-01-01

    Fibrous dysplasia is a benign fibro-osseous disorder, characterized by fibrous connective tissue containing abnormal bone which replaces normal bone. It represents 2 to 5% of all bone tumors and 7% of all benign tumors. Most commonly it affects younger age groups, with a higher prevalence in the maxilla than the mandible. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Fibrous dysplasia can involve multiple bones (polyostotic) or a single bone (monostotic). The lesions of fibrous dysplasia can be surgically recontoured for esthetic or functional purposes once the growth ceases. Here we report a case of craniofacial fibrous dysplasia in an 83-year-old elderly male patient with emphasis on radiographic features.

  7. Contemporary Concepts in the Young Adult Hip Patient: Periacetabular Osteotomy for Hip Dysplasia.

    PubMed

    Coobs, Benjamin R; Xiong, Ao; Clohisy, John C

    2015-07-01

    The Bernese periacetabular osteotomy, as originally described by Dr. Reinhold Ganz, is an effective treatment for symptomatic acetabular dysplasia in the pre-arthritic young adult hip. This technique has experienced several recent modifications in an attempt to optimize the clinical outcomes of these patients. We will review the clinical presentation of acetabular dysplasia, indications for surgery, contemporary refinements in technique and clinical results following periacetabular osteotomy. In well-selected patients, this reconstructive osteotomy should be considered safe and effective in alleviating pain and improving hip function. PMID:25865812

  8. Full Mouth Rehabilitation of an Ectodermal Dysplasia Patient with Implant-Supported Prostheses: A Clinical Report

    PubMed Central

    Ghoveizi, Rahab; Siadat, Hakimeh; Nikzad, Sakineh; Ommati Shabestari, Ghasem; Soleimani Shayesteh, Yadolah

    2013-01-01

    Full mouth rehabilitation in patients with ectodermal dysplasia (ED) is difficult to manage, especially because the afflicted individuals are quite young when they are evaluated for treatment; therefore, esthetics is an important concern. This clinical report describes the rehabilitation of a 19-year-old girl diagnosed with ectodermal dysplasia. Eleven implants were placed in the maxilla and mandible along with bone grafting to the upper jaw and both arches were constructed by metal-ceramic implant-supported fixed prostheses. This treatment plan seems to be favorable for ED patients. PMID:25512756

  9. Florid osseous dysplasia

    PubMed Central

    Bansal, Shivani; Shetty, Subraj; Bablani, Deepika; Kulkarni, Sandip; Kumar, Vinay; Desai, Rajiv

    2011-01-01

    The concept of ‘fibro-osseous lesions’ of bone has evolved over the last several decades and now includes two major entities, viz., fibrous dysplasia and ossifying fibroma, as well as other less common entities such as periapical dysplasia, focal osseous dysplasia, florid osseous dysplasia and familial gigantiform cementoma. Florid osseous dysplasia is a central lesion of the bone and periodontium, which has caused considerable controversy because of confusion regarding terminology and criteria for diagnosis. This paper reports a rare case of florid osseous dysplasia affecting maxilla and mandible bilaterally in a 14-year-old Indian male patient. PMID:22529580

  10. [Frontoethmoidal sinus mucocele as a rare finding in a patient with craniofacial fibrous dysplasia].

    PubMed

    Halefoğlu, Ahmet Mesrur

    2006-01-01

    Fibrous dysplasia is a benign developmental skeletal disorder characterized by bony expansion secondary to replacement of the medullary cavity by fibroosseous connective tissue. A 16-year-old male patient underwent magnetic resonance imaging for headache, left proptosis, and a thrill over the left temporal artery. T1- and T2-weighted images showed extensive bone involvement of typical low signal intensity in the left hemicalvarium, skull base, and facial bones. Another striking finding was the presence of a frontoethmoidal sinus mucocele, which demonstrated high signal intensity both on T1- and T2-weighted images. The diagnosis was made as fibrous dysplasia after bone biopsy and histopathological evaluation.

  11. Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery.

    PubMed

    Ahiskalioglu, Elif Oral; Ahiskalioglu, Ali; Firinci, Binali; Dostbil, Aysenur; Aksoy, Mehmet

    2015-01-01

    Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives. PMID:26614152

  12. [Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery].

    PubMed

    Ahiskalioglu, Elif Oral; Ahiskalioglu, Ali; Firinci, Binali; Dostbil, Aysenur; Aksoy, Mehmet

    2015-01-01

    Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives. PMID:26655713

  13. Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery.

    PubMed

    Ahiskalioglu, Elif Oral; Ahiskalioglu, Ali; Firinci, Binali; Dostbil, Aysenur; Aksoy, Mehmet

    2015-01-01

    Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives.

  14. [Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery].

    PubMed

    Ahiskalioglu, Elif Oral; Ahiskalioglu, Ali; Firinci, Binali; Dostbil, Aysenur; Aksoy, Mehmet

    2015-01-01

    Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives.

  15. [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.

  16. High prevalence of cervical dysplasia in STD clinic patients warrants routine cytologic screening.

    PubMed Central

    Briggs, R M; Holmes, K K; Kiviat, N; Barker, E; Eschenbach, D A; DeJong, R

    1980-01-01

    The results of routine cervical cytology screening at a Planned Parenthood Center (PPC) clinic were compared to those at a nearby sexually transmitted diseases (STD) clinic in Seattle. Cervical cytologic findings were consistent with cervical intraepithelial neoplasia (CIN), grades 1 (mild dysplasia), 2 (moderate dysplasia), or 3 (severe dysplasia to carcinoma in situ) in 502 (5.9 per cent) of 8,504 PPC patients and 87 (11.4 per cent) of 764 STD patients (p = .001). This rate for STD patients is five times that reported for the general population. Sixty-three PPC patients and 31 STD patients with screening smears consistent with CIN 1 or 2 underwent further prospective study by us, including repeated cytologic and colposcopic examinations. Thirty-seven (59 per cent) of 63 PPC patients and 26 (84 per cent) of 31 STD patients (p = .02) had at least on additional smear or colposcopy consistent with CIN and were advised to undergo cervical biopsy. Among those who underwent recommended biopsy, CIN was confirmed histologically in 15 (50 per cent) of 30 PPC patients and 11 (61 per cent) of 18 STD patients. Thus, the proportion of patients who had screening cytologic findings consistent with CIN, the proportion with persistent cytologic or colposcopic findings consistent with CIN on retesting, and the proportion of those biopsied who had histologically confirmed CIN, all were higher for STD than for PPC patients. There is a serious need for cytologic screening in STD clinics throughout the nation. PMID:6893526

  17. Cartilage Status at Time of Arthroscopy Predicts Failure in Patients With Hip Dysplasia.

    PubMed

    Dwyer, Maureen K; Lee, Jo-Ann; McCarthy, Joseph C

    2015-09-01

    The purpose of our study was to determine whether chondral damage at the time of arthroscopy predicted conversion to THA in patients with dysplasia. We identified 166 patients with dysplasia who underwent hip arthroscopy. Forty-seven went on to receive THA. The articular cartilage of three regions of the acetabulum and femoral head were assessed for signs of chondral damage (absent, mild, or severe]). A stepwise multivariable logistic regression analysis revealed mild damage on the posterior femoral head (P=0.001) and severe damage on the anterior acetabulum (P=0.007) made a significant contribution to the predictor. The presence of mild posterior femoral head chondral changes was indicative of more global cartilage damage in this series of patients. Our findings show that chondral damage on the posterior femoral head and anterior acetabulum is a strong predictor of ultimate conversion to THA in dysplastic patients. PMID:26059500

  18. The orthodontic management of a patient presenting with cemento-osseous dysplasia.

    PubMed

    Sethusa, M P S; Khan, M I

    2009-04-01

    Cemento-osseous dysplasias are sometimes seen on routine radiographic examination of the tooth-bearing areas of the jaws, most commonly amongst adult female patients. Lesions present as radiolucent to radio-opaque areas, depending on various levels of maturity. Extraction of teeth is strongly contraindicated because there is a high risk of infection with a possibility of bone sequestration, as antibiotics are unable to cross the thick cortical marginal bone that surrounds these lesions. No report has been found in the literature on the orthodontic management of patients with this condition. This paper reports on a 28-year-old black female patient with cemento-osseous dysplasia who received orthodontic treatment.

  19. [Connective tissue dysplasia in patients with celiac desease as a problem of violation of adaptation reserve islands of the body].

    PubMed

    Tkachenko, E; Oreshko, L S; Soloveva, E A; Shabanova, A A; Zhuravleva, M S

    2015-01-01

    Clinically significant dysplasia of connective tissue in patients with celiac disease is often responsible for various visceral disorders. Different disturbances of motor and evacuation functions are often determined in this patients (gastroesophageal reflux, duodenogastral reflux, spastic and hyperkinetic dyskinesia). The clinical course of the celiac disease, associated with connective tissue dysplasia, is characterized by asthenovegetative syndrome, reduced tolerance to physical activity, general weakness, fatigue and emotional instability. These data should be considered in choosing a treatment. PMID:25993866

  20. Effect of retinoic acid on HPV titration and colposcopic changes in Korean patients with dysplasia of the uterine cervix.

    PubMed

    Ahn, W S; Lee, J M; Namkoong, S E; Lee, H Y; Kim, S J

    1997-01-01

    Retinoids, a family of molecules capable of profound impact on many biological functions, have antiproliferative, differentiative, and immunomodulatory properties. The present study assessed the effect of 13-cis-retinoic acid (13-CRA) treatment in 13 chronic cervicitis and 52 cervical intraepithelial neoplasia patients. We examined low- and high-risk human papilloma virus titer (using the hybrid capture method) and made a colposcopic and cervicographic examination before and after treatment with 13-CRA at 1 mg/kg for 4 to 12 weeks. Patients were between 27 and 64 years, the average age being 36.6 years. Histology revealed chronic cervicitis in 13 cases, mild dysplasia in 18 cases, moderate dysplasia in 18 cases, and severe dysplasia in 16 cases, totaling 65 cases. The expression rate of high-risk human papilloma virus (HPV 16, 18) was 9 of 13 cases (69%) in chronic cervicitis, 7 of 18 cases (38%) in mild dysplasia, 9 of 18 cases (50%) in moderate dysplasia, and 12 of 16 cases (75%) in severe dysplasia, with the overall expression rate being 37 of 65 cases (57%). Following 13-CRA treatment, decreases in high-risk titer were observed in 6 of 9 cases (66%) of chronic cervicitis, 4 of 11 cases (36%) of mild dysplasia, 7 of 9 cases (77%) of moderate dysplasia, and 8 of 12 cases (75%) of severe dysplasia. Overall, HPV titer decreased in 25 of 41 cases (61%). Minimal changes were found in colposcopic and cervicographic observations during the study. In summary, high-risk HPV titer decreased after treatment with 13-CRA in the majority of patients with cervical intraepithelial neoplasia. This study supports the potential of retinoids to interrupt multi-step carcinogenesis, possibly by down-regulation of gene products (E6,E7) produced by HPV infection.

  1. Diagnosis and Management of Dysplasia in Patients with Ulcerative Colitis and Crohn’s Disease of the Colon

    PubMed Central

    Ullman, Thomas; Odze, Robert; Farraye, Francis A.

    2009-01-01

    To minimize the possibility of developing lethal colorectal cancer (CRC) in ulcerative colitis (UC) and Crohn’s colitis, patients are usually enrolled in a program of dysplasia surveillance. The success of a surveillance program depends on the identification of patients with dysplasia and timely referral for colectomy. While a number of issues might stand in the way of a surveillance system achieving its maximal effect (less than ideal agreement in the interpretation of biopsy specimens, sampling error by endoscopists, delays in referral to surgery, and patient drop-out among others), circumstantial evidence supports the concept that colonoscopic dysplasia surveillance is an effective means of reducing CRC mortality and morbidity while minimizing the application of colectomy for cancer prevention. This review critically appraises key issues in the diagnosis and management of dysplasia in UC and Crohn’s disease as well as adjunct efforts to prevent CRC in inflammatory bowel disease. PMID:18942763

  2. [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.

  3. 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.

  4. 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

  5. Osteogenic sarcoma and soft tissue myxoma in a patient with fibrous dysplasia and hemoglobins JBaltimore and S.

    PubMed

    Witkin, G B; Guilford, W B; Siegal, G P

    1986-03-01

    A 41-year-old man with recognized polyostotic fibrous dysplasia since late childhood developed fibroblastic osteogenic sarcoma in the left tibia. Four months after the initial diagnosis, an intramuscular myxoma was discovered in the left thigh. Twenty years previously he had been found to be heterozygous for hemoglobins JBaltimore and S. Malignant transformation in fibrous dysplasia is unusual and may be associated in some individuals with prior irradiation. Soft tissue myxomas associated with fibrous dysplasia are even rarer. To the best of the authors' knowledge the occurrence of both of these lesions in a patient with fibrous dysplasia has been reported only once before. Patients with both fibrous dysplasia and myxomas may be at greater risk for malignant transformation than are individuals with only one of these lesions. There is no well-recognized association between hemoglobinopathies and either fibrous dysplasia or bone tumors. It is therefore probable that the rare constellation of findings is in this patient a stochastic event. PMID:3456858

  6. Surveillance of IBD Using High Definition Colonscopes Does Not Miss Adenocarcinoma in Patients with Low Grade Dysplasia

    PubMed Central

    Cleveland, Noa Krugliak; Colman, Ruben J.; Rodriquez, Dylan; Hirsch, Ayal; Cohen, Russell D.; Hanauer, Stephen B.; Hart, John; Rubin, David T.

    2016-01-01

    Background Historically, limits to the ability to detect dysplasia in chronic inflammatory bowel disease (IBD)-associated colitis resulted in the recommendation that neoplasia of any grade be treated by proctocolectomy. We hypothesized that with improved optical technologies, most neoplasia in colitis is now detectable and reassessed the prevalence of colitis-associated neoplasia. Methods We retrospectively reviewed all our patients with IBD who had pathologist-confirmed neoplasia on surveillance colonoscopy and underwent a subsequent colectomy. We included patients whose index lesions were found between 2005 and 2014 (the dates of our high definition equipment) and recorded the location and grade of these lesions. These findings were compared to the surgical specimens, and in patients with partial colectomies, included follow-up. Results Thirty-six patients with IBD (19 [53%] ulcerative colitis, 17 [47%] Crohn’s disease) were found to have neoplastic lesions on surveillance colonoscopy and underwent a subsequent partial colectomy or total proctocolectomy. Fourty-four index lesions were identified by colonoscopy (29 white light and 7 methylene blue chromoscopy): 30 low-grade dysplasia, 6 high-grade dysplasia, and 8 adenocarcinoma. None of the low-grade dysplasia or adenocarcinoma index lesions were associated with synchronous carcinoma at colectomy. One of the patients with high-grade dysplasia had adenocarcinoma of the appendix. Conclusions In this experience with high definition colonoscopes in chronic colitis, no synchronous adenocarcinomas were found when colectomy was performed for low grade dysplasia and only 1 adenocarcinoma in the appendix was found in the setting of high-grade dysplasia. These findings suggest that active surveillance or subtotal colectomy, may be safe options for patients with IBD and some grades of neoplasia. PMID:26658214

  7. Role of random biopsies in surveillance of dysplasia in ulcerative colitis patients with high risk of colorectal cancer

    PubMed Central

    Bopanna, Sawan; Roy, Maitreyee; Das, Prasenjit; Dattagupta, S; Sreenivas, V; Mouli, V Pratap; Kedia, Saurabh; Dhingra, Rajan; Pradhan, Rajesh; Kumar, N Suraj; Yadav, Dawesh P; Makharia, Govind

    2016-01-01

    Background/Aims Recent data suggest that the incidence of ulcerative colitis (UC) related colorectal cancer (CRC) in India is similar to that of West. The optimum method for surveillance is still a debate. Surveillance with random biopsies has been the standard of care, but is a tedious process. We therefore undertook this study to assess the yield of random biopsy in dysplasia surveillance. Methods Between March 2014 and July 2015, patients of UC attending the Inflammatory Bowel Disease clinic at the All India Institute of Medical Sciences with high risk factors for CRC like duration of disease >15 years and pancolitis, family history of CRC, primary sclerosing cholangitis underwent surveillance colonoscopy for dysplasia. Four quadrant random biopsies at 10 cm intervals were taken (33 biopsies). Two pathologists examined specimens for dysplasia, and the yield of dysplasia was calculated. Results Twenty-eight patients were included. Twenty-six of these had pancolitis with a duration of disease greater than 15 years, and two patients had associated primary sclerosing cholangis. No patient had a family history of CRC. The mean age at onset of disease was 28.89±8.73 years and the duration of disease was 19.00±8.78 years. Eighteen patients (64.28%) were males. A total of 924 biopsies were taken. None of the biopsies revealed any evidence of dysplasia, and 7/924 (0.7%) were indefinite for dysplasia. Conclusions Random biopsy for surveillance in longstanding extensive colitis has a low yield for dysplasia and does not suffice for screening. Newer techniques such as chromoendoscopy-guided biopsies need greater adoption. PMID:27433149

  8. 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. PMID:25899668

  9. Upper tract juvenile polyps in juvenile polyposis patients: dysplasia and malignancy are associated with foveolar, intestinal, and pyloric differentiation.

    PubMed

    Ma, Changqing; Giardiello, Francis M; Montgomery, Elizabeth A

    2014-12-01

    Patients with juvenile polyposis syndrome (JPS), a hereditary autosomal dominant hamartomatous polyposis syndrome, are at increased risk for colorectal adenocarcinoma. The upper gastrointestinal tract is less often involved by JPS than the colorectum, and, consequently, upper tract juvenile polyps (JPs) are not well studied. We reviewed upper endoscopies and corresponding biopsies in JPS patients documented in our Polyposis Registry. A total of 199 upper gastrointestinal biopsies from 69 endoscopies were available in 22 of 41 (54%) JPS patients. Thirteen of the 22 patients (59%) had ≥1 gastric JP; 5 also had 6 small bowel JPs. Gastric JP was identified as early as age 7 in a patient with an SMAD4 gene mutation. Two patients (9%) had high-grade dysplasia in gastric JP. Invasive adenocarcinoma was diagnosed in the gastrectomy specimen of 1 patient. Five patients had a huge gastric polyp burden; 3 underwent total gastrectomy. Three patients died of complications associated with extensive upper JP. Histologically, 8 of the 56 (14%) gastric JPs identified had dysplasia. All of the 8 polyps demonstrated intestinalized and pyloric gland differentiation intermixed with foveolar epithelium. Dysplasia was seen arising in all 3 types of epithelium. The flat gastric mucosa in 11 patients was unremarkable without inflammation or intestinal metaplasia. The 6 small bowel JPs had no dysplasia. Our findings suggest that JPS patients are at increased risk for gastric adenocarcinoma. Detection of malignancy in syndromic gastric JP indicates that the current screening procedures are insufficient in removal of precursor lesions to prevent progression to carcinoma. PMID:25390638

  10. [Connective tissue dysplasia].

    PubMed

    Piantkovskiĭ, A S

    2012-01-01

    The article presents a diagnosis of dysplasia of connective tissue in athletes, where the most important are the methods of clinical assessment using diagnostic tests and rating scales manifestation of connective tissue dysplasia. Evaluation of patients with suspected connective tissue dysplasia should include inspection of an ophthalmologist, orthopedic trauma, cardiology. Should also be carried out by criteria diagnosis degree of connective tissue dysplasia by T. Y. Smolnova (2003) (Large and small diagnostic criteria), which include: increased skin extensibility, joint hypermobility (sprain, dislocation and subluxation, flat feet), muscle hypotonia, a hereditary predisposition to the disease, evaluation of signs joint hypermobility (Beighton criteria). If during routine medical examination revealed athletes with manifestations of connective tissue dysplasia, they are subject to a more in-depth examination and observation. Early diagnosis of connective tissue dysplasia allows not only to plan the training process, but also reduces the trauma of athletes.

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

    PubMed

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

    2016-07-01

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

  12. Association between equivalent current dipole source localization and focal cortical dysplasia in epilepsy patients.

    PubMed

    Blenkmann, Alejandro; Seifer, Gustavo; Princich, Juan Pablo; Consalvo, Damian; Kochen, Silvia; Muravchik, Carlos

    2012-02-01

    We analysed the association between focal cortical dysplasia (FCD) visible in MRI and the location of equivalent current dipole (ECD) of single interictal scalp EEG spikes (IIS) in 11 epilepsy patients. We calculated several indicators of distance of ECDs to the FCD border. The results confirm some previous studies suggesting that the epileptogenic zone associated to the location of ECDs extends beyond the FCD visible in MRI. The analysis suggests the ECDs to be in a shell parallel to part of the FCD surface.

  13. Oral rehabilitation of a hypohidrotic ectodermal dysplasia patient: a 6-year follow-up.

    PubMed

    Itthagarun, A; King, N M

    2000-10-01

    This case report describes the oral rehabilitation of a female child with hypohidrotic ectodermal dysplasia over a 6-year time period. It demonstrates the need for periodic modification and replacement of a prosthesis, an orthodontic appliance, and a gingivoplasty. Although the initial treatment plan was considered to be a compromise due to limited cooperation, an improvement was observed in the patient's social behavior as a consequence of her dental treatment. The effects of unavoidable changes in the dental team over 6 years are also discussed. PMID:11203989

  14. 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. PMID:25486376

  15. Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

    PubMed

    Jakubiczka, S; Schröder, C; Ullmann, R; Volleth, M; Ledig, S; Gilberg, E; Kroisel, P; Wieacker, Peter

    2010-01-01

    Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the SOX9 gene on 17q24.3 as well as chromosomal aberrations (translocations, inversions or deletions) in the vicinity of SOX9. Here, we report on a patient with muscular hypotonia, craniofacial dysmorphism, cleft palate, brachydactyly, malformations of thoracic spine, and gonadal dysgenesis with female external genitalia and müllerian duct derivatives in the presence of a male karyotype. X-ray examination and clinical examinations revealed no signs of campomelia. The combination of molecular cytogenetic analysis and array CGH revealed an unbalanced translocation between one chromosome 7 and one chromosome 17 [46,XY,t(7;17)(q33;q24).ish t(7;17)(wcp7+,wcp17+;wcp7+wcp17+)] with a deletion of approximately 4.2 Mb located about 0.5 Mb upstream of SOX9. STS analysis confirmed the deletion of chromosome 17, which has occurred de novo on the paternal chromosome. The proximal breakpoint on chromosome 17 is localized outside the known breakpoint cluster regions. The deletion on chromosome 17q24 removes several genes. Among these genes PRKAR1A is deleted. Inactivating mutations of PRKAR1A cause Carney complex. To our knowledge, this is the first report of a patient with acampomelic campomelic dysplasia, carrying both a deletion and a translocation. PMID:20453475

  16. Oral rehabilitation of a patient with ectodermal dysplasia: A multidisciplinary approach

    PubMed Central

    Shah, Rachana; Shah, Sujal

    2014-01-01

    Dental abnormalities associated with ectodermal dysplasia (ED) cause severe functional, esthetic and psychological problems. This case report describes treatment of a patient with hypohidrotic (Christ-Siemens -Touraine syndrome) ED. Patient was rehabilitated with the use of endosseous implants in mandible following an orthodontic treatment to bring the impacted maxillary canine in the arch. This procedure aided in the preservation of the surrounding bone and retention of the prosthesis. A tooth supported fixed partial denture (FPD) was fabricated for the maxillary arch and three separate (two all-tooth and one all-implant supported) FPDs were fabricated for the mandibular arch. Fixed prostheses boosted the self-esteem of this patient. PMID:25097437

  17. 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

  18. Fibromuscular Dysplasia in a Normotensive Patient Presented With Renal Infarct: Case Report and Endovascular Technique.

    PubMed

    Rostambeigi, Nassir; Goldfarb, Robert; Hunter, David W; Anderson, James Kyle

    2015-10-01

    Fibromuscular dysplasia (FMD) is a well-known disease, but its diagnosis can be challenging. Typically, the symptomatic FMD are reported by young and middle aged people with high blood pressure refractory to medical treatment. We present a rare case of a young, healthy, and normotensive patient who presented with pain secondary to renal infarction, without any prior signs or symptoms or history of hypertension. This presentation of FMD has not been previously described. The typical but subtle angiographic findings of the macro-aneurysmal FMD as well as the successful endovascular treatment are discussed herein. The macro-aneurysmal form of FMD should be considered in the differential diagnosis of acute renal infarction in young and middle aged patients even if they do not have a history of hypertension.

  19. 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."

  20. Prosthodontic Rehabilitation of Hereditary Ectodermal Dysplasia in an 11-Year-Old Patient with Flexible Denture: A Case Report

    PubMed Central

    Jain, Neha; Naitam, Dinesh; Wadkar, Arti; Nemane, Anuradha; Katoch, Shiva; Dewangan, Ashish

    2012-01-01

    Hereditary ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of two or more tissues of ectodermal origin such as hair, nails, teeth, and skin. The dental characteristics of this syndrome include anodontia or hypodontia of the primary and/or permanent teeth, hypoplastic conical teeth, and underdevelopment of the alveolar ridges. The options for a definitive treatment plan include fixed, removable or implant-supported prostheses, singly or in combination. This clinical report describes the prosthetic rehabilitation of an 11-year-old boy with hereditary ectodermal dysplasia. Maxillary flexible removable partial denture and mandibular conventional complete denture were fabricated to establish an acceptable masticatory function, speech, and esthetics for the patient. PMID:23320200

  1. Kidney Dysplasia

    MedlinePlus

    ... following early in life: blood-filtering treatments called dialysis a kidney transplant Children with dysplasia in only ... mild dysplasia of both kidneys may not need dialysis or a kidney transplant for several years. Kidney ...

  2. 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.

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

    PubMed

    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

  4. 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

  5. [Nonarthroplasty methods for developmental dysplasia of the hip with complete dislocation at the age of 8-25 patients].

    PubMed

    Zang, Jiancheng; Zhang, Hong

    2015-06-01

    It is a tough challenge treatment of complete dislocation from developmental dysplasia of the hip at the age of 8-25 patients. Although the procedure of total hip arthroplasty (THA) can improve joint function significantly, the failure rate still remains high. Hip arthrodesis remains a sensible and safe option. A stable and painless hip joint can be obtained without multiple operations. Ganz et al.had described a modified Colonna capsular arthroplasty and surgical hip dislocation with well joint functions, radiographic findings and the less complications of the femoral head osteonecrosis. There is a obvious advantage in postponing THA, and subsequent THA could be technically easier and safer in a dislocated hip. The procedure of pelvic support osteotomy, which is proposed by Ilizarov, combined two steps of femur osteotomy and femur lengthening, provides an effective treatment option for adolescent hip dysplasia or dislocation. By this procedure, the hip could be reserved, the limb length recovered and the gait improved significantly. Resection arthroplasty is a reliable method, by which 90% dysplasia patients received a painless joint and good functional outcomes. In view of certain drawbacks, it is used only as a salvage operation currently. This article reviews some alternative nonarthroplasty methods for developmental dysplasia of the hip with complete dislocation. Good clinical results can be obtained through strict indications and nice surgical skills. PMID:26359064

  6. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

    PubMed

    Moosa, Shahida; Obregon, Maria Gabriela; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Fano, Virginia; Wollnik, Bernd

    2016-05-01

    Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, skeletal abnormalities, and ectodermal features. To date, four genes have been shown to underlie the syndrome, namely, IFT122 (WDR10), WDR35 (IFT121), IFT43 (C14orf179), and WDR19 (IFT144). Clinical characterization of a larger cohort of patients with CED has been undertaken previously. Nevertheless, there are too few molecularly confirmed patients reported in the literature to determine precise genotype-phenotype correlations. To date, biallelic IFT122 mutations have been described in only five families. We therefore studied three unrelated Argentinian patients with typical features of CED using a 4813 next-generation sequencing (NGS) gene panel, which we call the "Mendeliome." The three patients had different, novel, compound heterozygous mutations in IFT122. Consequently, we compared these three patients to those previously described with IFT122 mutations. Thus, our report serves to add 6 novel mutations to the IFT122 mutation spectrum and to contribute to the IFT122-related clinical characterization. PMID:26792575

  7. Dysplasia of the orbit and adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients.

    PubMed

    Friedrich, Reinhard E; Stelljes, Claudia; Hagel, Christian; Giese, Manfred; Scheuer, Hanna A

    2010-05-01

    Neurofibromas are the hallmark of neurofibromatosis type 1 (NF1). Interestingly, generalised and localised interference or dysfunction of bone is also a key element of the NF1 phenotype. In the skull, NF1-associated orbital dysplasia often results in a severe disfigurement of affected individuals. However, the underlying pathology of orbital dysplasia is a complex phenomenon and up to now poorly understood. This study was performed to describe the orbit in 42 NF1 patients with large, disfiguring soft-tissue tumour of the orbital/eyelid region (plexiform neurofibroma (PNF)). A dysplastic orbit on the affected side was diagnosed in 80.9%. Orbital PNF extension to adjacent regions revealed a significant correlation of orbit and temporal region (0.33, p<0.034), cheek and oral cavity (0.4, p>0.011), oral cavity and nose (0.35, p<0.026), and temporal region and cheek (0.46, p<0.003). Alterations of the optic nerve and adjacent structures were identified on MRI or CT in 14 patients. On plain skull radiographs, only sphenoid wing dysplasia and ipsilateral orbital enlargement were significantly correlated (0.528, p<0.01). This study reveals PNF as the main component of soft tissue affecting eyelids and orbit in those cases, which show a soft tissue mass in the affected orbital region. The oval-shaped orbital rim, typically seen on plain skull radiographs in sagittal projections, seems to be strongly associated with the (lateral and caudal) extension of a PNF and independent from sphenoid wing dysplasia. Several factors constitute the individual orbital dysplasia, including the growth of the invasive PNF.

  8. Shielding during x-ray examination of pediatric female patients with developmental dysplasia of the hip.

    PubMed

    Tsai, Yi-Shan; Liu, Yi-Sheng; Chuang, Ming-Tsung; Wang, Chien-Kuo; Lai, Cheng-Shih; Tsai, Hong-Ming; Lin, Chii-Jeng; Lu, Chia-Hsing

    2014-12-01

    Patients with developmental dysplasia of the hip (DDH) generally undergo multiple x-ray examinations of both hip joints. During these examinations, the gonads are completely exposed to radiation, unless shielded. Although many types and sizes of gonad shields exist, they often do not provide adequate protection because of size and placement issues; additionally, these shields are frequently omitted for female patients. Our aim was to assess gonad protection during x-ray examination that is provided by gonad shields designed for individual female patients with DDH.We retrospectively retrieved data from the Picture Archiving and Communication System database; pelvic plain x-ray films from 766 females, 18 years old or younger, were included in our analysis. Based on x-ray measurements of the anterior superior iliac spine, we developed a system of gonad shield design that depended on the distance between anterior superior iliac spine markers. We custom-made shields and then examined shielding rates and shielding accuracy before and after these new shields became available. Standard (general-purpose) shields were used before our custom design project was implemented. The shielding rate and shielding accuracy were, respectively, 14.5% and 8.4% before the project was implemented and 72.7% and 32.2% after it was implemented. A shield that is more anatomically correct and available in several different sizes may increase the likelihood of gonad protection during pelvic x-ray examinations. PMID:25325378

  9. [Morphological diagnosis of connective tissue dysplasia in patients, suffering postoperative abdominal hernia].

    PubMed

    Chetverikov, S H; Iashchenko, A M; Ier'omin, Iu V; Vododiuk, V Iu

    2012-05-01

    The results of treatment of 122 patients, to whom alloplasty for postoperative abdominal hernia (POAH) was performed, were analyzed. In 76 patients a connective tissue dysplasia (CTD) was diagnosed.Determination of a various types of collagen content in connective tissue of patients, suffering CTD, may confirm or exclude this diagnosis. Diagnostic significance has the enhancement of a collagen type III content in comparison with such of a type I by three times and more. The method of lectinohistochemical investigation of connective tissue was applied as a precision-enhancing method of a CTD diagnosis. Mosaic or diffuse loss of SNA, LABA, ConA receptors of lectins by collagen fascicles, which reflect carbohydrate determinants of dense and strong collagen fascicles, made of collagen type I, witness the CTD presence. Along with this, there was observed a lectin WGA receptors expression increase, which constitutes a marker of fascicular structures, made of collagen, predominantly type III and a lectin PNA receptors, which are revealed around vessels.

  10. 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

  11. Clinical and radiological observations in a case series of 26 patients with fibrous dysplasia.

    PubMed

    Thomsen, Malissa Dawn; Rejnmark, Lars

    2014-04-01

    Fibrous dysplasia (FD) is a rare disease caused by a sporadic postzygotic missense mutation that leads to abnormal fibroblast proliferation, defective osteoblast differentiation, and increased bone resorption. It may affect one or several bones. Both the mono-ostotic and polyostotic types may be associated with hyperfunctional endocrinopathies and hyperpigmentation of the skin (café-au-lait spots) in the so-called McCune-Albright syndrome (MAS). Due to its rarity, only a few case series are available, making it difficult for most clinicians to judge the severity of the disease. To improve our knowledge of FD, we reviewed all cases of FD treated at our department of endocrinology. Among 26 patients, 17 (65 %) had polyostotic FD, with four being diagnosed with MAS. Patients with polyostotic FD were diagnosed at an earlier age (median 13, range 0.5-64 years) than patients with the mono-ostotic form (median 21, 1-70 years). Craniofacial bones were affected in 80 % of cases, and 66 % complained of bone pain at the affected site, with no difference between patients with mono- and polyostotic FD. Two patients with mono-ostotic and three with polyostotic FD had cranial nerve impairments. Fourteen underwent, at least, one surgery, six (67 %) with mono-ostotic and eight (47 %) with polyostotic FD. Most received treatment with bisphosphonates, but therapy did not result in any clear relief of symptoms or radiological improvements. In conclusion, bone pain is common in patients with FD. The severity of the disease depends on affected bones as mono-ostotic may be as debilitating as polyostotic FD. In our case series, bisphosphonate treatment did not show clear beneficial effects.

  12. A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis.

    PubMed

    Maraia, R; Saal, H M; Wangsa, D

    1991-06-01

    The campomelic syndrome is a skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal extremities, pelvic and shoulder girdles, thoracic cage and palate. Respiratory compromise often leads to death in early infancy. Etiology has not been determined although evidence suggests genetic heterogeneity in patients with campomelia. Cytogenetic analysis in the past have revealed an unexpectedly high incidence of a 46, XY karyotype in phenotypic females. We report here on a patient with a typical case of campomelic dysplasia in whom a de novo paracentric inversion of chromosome 17q was identified. Review of the genetic map of the inverted region identified potential "structural" genes including the Hox-2-homeobox gene and the collagen gene, COLIA1, which may be involved in the pathogenesis of campomelic syndrome.

  13. Cross-sectional assessment of pain and physical function in skeletal dysplasia patients.

    PubMed

    Alade, Y; Tunkel, D; Schulze, K; McGready, J; Jallo, G; Ain, M; Yost, T; Hoover-Fong, J

    2013-09-01

    Short stature skeletal dysplasia (SD) patients have orthopedic and neurologic complications causing significant pain and physical disability. We conducted a large cross-sectional online survey in 361 people with short stature SD (>10 years) to describe pain prevalence, characteristics, and the relationship between pain and function. Chronic pain prevalence per Brief Pain Inventory (BPI) was 70.3%. Women reported more pain than men (73% vs 63% p = 0.04). Pain Severity Score (average of current, worst, least and average pain) averaged 3.3 ± 2, while the Pain Interference Score (with daily activities) averaged 3.4 ± 2.7 on a 10-point scale. Per Bleck scale, 20.5% had little or no functional capacity. Increasing age and decreased ambulation independently predicted chronic pain. Chronic pain is prevalent in short stature SD patients and associated with poor physical function. Further study is required to clarify the temporal relationship among pain, function and treatments. PMID:23106480

  14. Effect of complete dentures on craniofacial growth of an ectodermal dysplasia patient: a clinical report.

    PubMed

    Bhalla, Gaurav; Agrawal, Kaushal Kishor; Chand, Pooran; Singh, Kamleshwar; Singh, Balandra Pratap; Goel, Prachi; Alvi, Habib Ahmed

    2013-08-01

    The aim of this clinical report was to observe the effect of complete dentures on craniofacial growth and development of an ectodermal dysplasia (ED) patient. A complete anodontia patient diagnosed with ED was successfully rehabilitated with conventional complete dentures at the ages of 5, 8, and 10 years. Three sets of complete dentures were made with age-appropriate denture teeth and a bilaterally balanced lingualized occlusal scheme. Periodic follow-up and adjustment when needed was done to maintain proper oral function and esthetics. Serial cephalometric analysis exhibited a marked restriction of forward growth at the anterior nasal spine (ANS) point between 5 and 10 years of age, although there was little change from average in the anteroposterior length of the mandibular body and the height of the mandibular ramus. So, while maxillary growth was reduced, mandibular growth did not significantly change. Cast analysis showed that the increase in arch length was greater than in arch width for both the maxilla and mandible. There was little increase in alveolar ridge height in the anterior region but a considerable increase in the height of the alveolar ridge in the middle and the posterior region. Our findings concluded that the absence of teeth did not affect the growth of the jaws, and it is probable that the denture flange did not arrest the jaw growth, but rather improved the masticatory function by providing good denture stability and retention.

  15. Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.

    PubMed

    Connor, Cody J; Shchelochkov, Oleg A; Ciliberto, Heather

    2015-10-01

    Terminal osseous dysplasia with pigmentary defects (TODPD) is a rare, X-linked syndrome classically characterized by distal limb anomalies, pigmented skin defects of the face, and recurrent digital fibromas. X-inactivation plays a major role in determining the range of phenotypic expression. Thus, patients can demonstrate a wide spectrum of disease severity, making accurate diagnosis more challenging. Recent studies have identified a FLNA c.5217G>A mutation as the cause of TODPD, allowing for diagnostic genetic testing. We present a case of molecularly confirmed TODPD in a girl with the 47,XXX chromosomal complement and deformities of the hands and feet, craniofacial abnormalities, and discolored, linear facial lesions. Skin biopsy of the patient's facial lesion revealed absent papillary dermal elastic fibers, consistent with anetoderma, which contrasts with the dermal hypoplasia described in the only other such facial biopsy reported in the literature. The finding of absent elastic fibers in the skin lesions suggests that mutated filamin A, in part, exerts its effects through dysregulated elastin biology, which may explain the nature of many connective tissue pleotropic effects in FLNA-related disorders. PMID:26059211

  16. A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?

    PubMed

    Tan, Tiong Yang; Whitelaw, Charlotte; Savarirayan, Ravi

    2007-10-01

    We report a 15-year-old girl with features of the MURCS (Mullerian abnormalities, renal agenesis/ectopy and cervicothoracic somite dysplasia) association and birth defects not typically associated with MURCS. In addition to seizures and intellectual disability, she has cortical brain heterotopia, bilateral subclinical cataracts, submucous cleft palate and patent ductus arteriosus. We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis. PMID:17786121

  17. A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

    PubMed

    Barraza-García, Jimena; Rivera-Pedroza, Carlos I; Belinchón, Alberta; Fernández-Camblor, Carlota; Valenciano-Fuente, Blanca; Lapunzina, Pablo; Heath, Karen E

    2016-08-01

    Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by skeletal dysplasia, focal segmental glomerulosclerosis, renal failure and immunodeficiency. In this work, we report the molecular studies undertaken in a severely affected SIOD patient that died at six years old due to nephropathy. The patient was screened for mutations using a targeted skeletal dysplasias panel. A homozygous novel missense mutation was identified, c.1615C > G (p.[Leu539Val]) that was predicted as mildly pathogenic by in silico pathogenicity prediction tools. However, splicing prediction software suggested that this variant may create a new splicing donor site in exon 9, which was subsequently confirmed using a minigene assay in HEK293 cells. Thus, the splicing alteration, c.1615C > G; r.1615c > g, 1615_1644del; (p.[Leu539_Ile548del]), results in the loss of 10 amino acids of the HARP-ATPase catalytic domain and the RPA-binding domain. Several studies have demonstrated a weak genotype-phenotype correlation among such patients. Thus, the molecular characterization has helped us to understand why a predicted weakly pathogenic missense mutation results in severe SIOD and should be considered in similar scenarios. PMID:27282802

  18. Computer-Assisted Rotational Acetabular Osteotomy for Patients with Acetabular Dysplasia

    PubMed Central

    Kobayashi, Naomi; Ike, Hiroyuki; Kubota, So; Saito, Tomoyuki

    2016-01-01

    Rotational acetabular osteotomy (RAO) is a well-established surgical procedure for patients with acetabular dysplasia, and excellent long-term results have been reported. However, RAO is technically demanding and precise execution of this procedure requires experience with this surgery. The usefulness of computer navigation in RAO includes its ability to perform three-dimensional (3D) preoperative planning, enable safe osteotomy even with a poor visual field, reduce exposure to radiation from intraoperative fluoroscopy, and display the tip position of the chisel in real time, which is educationally useful as it allows staff other than the operator to follow the progress of the surgery. In our results comparing 23 hips that underwent RAO with navigation and 23 hips operated on without navigation, no significant difference in radiological assessment was observed. However, no perioperative complications were observed in the navigation group whereas one case of transient femoral nerve palsy was observed in non-navigation group. A more accurate and safer RAO can be performed using 3D preoperative planning and intraoperative assistance with a computed tomography-based navigation system. PMID:26929806

  19. Computer-Assisted Rotational Acetabular Osteotomy for Patients with Acetabular Dysplasia.

    PubMed

    Inaba, Yutaka; Kobayashi, Naomi; Ike, Hiroyuki; Kubota, So; Saito, Tomoyuki

    2016-03-01

    Rotational acetabular osteotomy (RAO) is a well-established surgical procedure for patients with acetabular dysplasia, and excellent long-term results have been reported. However, RAO is technically demanding and precise execution of this procedure requires experience with this surgery. The usefulness of computer navigation in RAO includes its ability to perform three-dimensional (3D) preoperative planning, enable safe osteotomy even with a poor visual field, reduce exposure to radiation from intraoperative fluoroscopy, and display the tip position of the chisel in real time, which is educationally useful as it allows staff other than the operator to follow the progress of the surgery. In our results comparing 23 hips that underwent RAO with navigation and 23 hips operated on without navigation, no significant difference in radiological assessment was observed. However, no perioperative complications were observed in the navigation group whereas one case of transient femoral nerve palsy was observed in non-navigation group. A more accurate and safer RAO can be performed using 3D preoperative planning and intraoperative assistance with a computed tomography-based navigation system.

  20. A patient with focal fibrocartilaginous dysplasia in the distal femur and review of the literature.

    PubMed

    Ando, Akira; Hatori, Masahito; Hosaka, Masami; Hagiwara, Yoshihiro; Kita, Atsushi; Ochiai, Tatsuhiro; Itoi, Eiji

    2008-08-01

    Focal fibrocartilaginous dysplasia (FFCD) is a rare and benign bone lesion that induces bowing deformity of the long bones in young children. Excessive production of fibrocartilage by abnormal differentiation in the metaphysis or by trauma during delivery or after birth is thought to cause growth disturbance. Radiologically, the lesion is characterized by a lucent defect with marginal sclerosis in the medial metaphysis of the long bone. However, there have been few reports about the initial radiological changes of FFCD before bowing started. We report a patient with FFCD in the left distal femur in whom the radiological changes were serially observed during the course of the disorder. A 2-week-old boy first visited our hospital because of left thigh pain. Plain radiographs did not show any abnormal findings at that time. At 10 weeks, a well-defined lucent defect with bony fragment inside was observed in the distal femoral medial cortex. At 1 year, this bony fragment gradually vanished but varus deformity progressed and reached approximately 40 degrees at the age of 2. After removal of the lesion, osteotomy and immobilization was performed with Ilizarov external fixator comprising rings, rods and wires. Complete bone union was achieved 3 months after operation. It is noteworthy that we could observe the initial radiological changes of FFCD before varus deformity occurred. As far as we know, there have been no descriptions of the bony fragment inside a lucent defect of the lesion. Radiological features may vary in the early phase of FFCD. PMID:18679004

  1. Full mouth implant rehabilitation of a patient with ectodermal dysplasia after orthognathic surgery, sinus and ridge augmentation: a clinical report

    PubMed Central

    Bayat, Mohammad; Khobyari, Mohammad Mohsen; Dalband, Mohsen

    2011-01-01

    An 18-year-old male presented severe hypodontia due to hypohidrotic ectodermal dysplasia was treated with Le Fort I maxillary osteotomy with simultaneous sinus floor augmentation using the mixture of cortical autogenous bone graft harvested from iliac crest and organic Bio-Oss to position the maxilla in a right occlusal plane with respect to the mandible, and to construct adequate bone volume at posterior maxilla allowing proper implant placement. Due to the poor bone quality at other sites, ridge augmentation with onlay graft was done to construct adequate bone volume allowing proper implant placement, using tissue harvested from the iliac bone. Seven implants were placed in the maxilla and 7 implants were inserted in the mandible and screw-retained metal ceramic FPDs were fabricated. The two year follow up data showed that dental implants should be considered as a good treatment modality for patients with ectodermal dysplasia. PMID:21814619

  2. Less invasive modified Spitzy shelf procedure for patients with dysplasia of the hip.

    PubMed

    Okanoue, Yusuke; Kawakami, Teruhiko; Izumi, Masashi; Aso, Koji; Sugimura, Natsuki; Ikeuchi, Masahiko

    2015-05-01

    The shelf procedure for developmental dysplasia of the hip (DDH) is a simpler technique compared with periarticular acetabular osteotomies. However, the most commonly used approach involves the exposure of a large section of the outer iliac surface via a long skin incision and is relatively invasive. We have developed a mini one-incision technique for shelf procedure using bioabsorbable material, based on a modified Spitzy method. In the present report, we describe this procedure and outcomes. For the procedure, the patients are positioned in the lateral position and a 6-8-cm skin incision is made. The interval between the gluteus medius and the tensor fascia lata is developed without any muscle splitting. Thereafter, image intensification is used for accurate positioning of a slot for the new shelf, and a bone graft for the new shelf is obtained from the internal cortex of the iliac wing. The patient is then positioned with the hip in flexion; through the same sliding skin incision, the bone graft is impacted into the slot, and bioabsorbable screws or plates are implanted to cover and stabilise the new shelf. Cancellous bone chips are packed into the triangular space surrounded by the outer iliac surface, the new shelf, and the bioabsorbable screws or plate. We performed this procedure in 9 patients (12 hips). No progression of osteoarthritis was observed during the follow-up period (mean 28 months). The advantages of this procedure include the small, single, skin incision and minimal removal of the gluteus medius from the outer iliac surface. Based on our results, we believe that this procedure could be effective for the treatment of DDH. PMID:25205470

  3. [Stomach cancer in patients with systemic non-differentiated connective tissue dysplasia].

    PubMed

    Zil'ber, V S

    2014-01-01

    The study was designed as a comparative analysis of clinical and anamnestic data and results of morphological studies of surgically obtained tissues from 61 patients with stomach cancer (SC) aged 29-78 yr with (group 1) and without (group 2) signs of connective tissue dysplasia (CTD). The groups had an identical structure of SC hystological types, but in group 1 the tumours were localized mainly in the stomach body (60.6%, p < 0.05) and in group 2 in the cardia (32.1%, p < 0.05). In group 1, SC was more frequently associated with chronic (sometimes multiple) ulcers outside the tumor (18.2 compared with 7.1% in group 2). Comparative analysis revealed the following features of SC in patients with CTD: predominance of stigmatization signs in the urogenital system (57.6%) and gastrointestinal tract (42.4%), cyst formation in different organs (75.8%) especially in kidneys (48.5%), high frequency of gastric problems in medical history (chronic gastritis, ulcer disease) (72.7 and 35.7% in groups 1 and 2 respectively, p < 0.05) and concomitant pathology of urogenital system (42.4%, p < 0.05). These peculiarities may be used as the marker for the inclusion of patients in the risk group for SC. Taking into account plastic, morphogenetic, and protective functions of connective tissue under physiological conditions, the above epithelial-stromal relationships and peculiarities of reparative processes in gastric mucosa one can not exclude effect of CTD on gastric cancerogenesis. This implies the necessity of further studies.

  4. Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.

    PubMed

    Esseltine, Jessica L; Shao, Qing; Huang, Tao; Kelly, John J; Sampson, Jacinda; Laird, Dale W

    2015-11-15

    Oculodentodigital dysplasia (ODDD) is primarily an autosomal dominant disorder linked to over 70 GJA1 gene [connexin43 (Cx43)] mutations. For nearly a decade, our laboratory has been investigating the relationship between Cx43 and ODDD by expressing disease-linked mutants in reference cells, tissue-relevant cell lines, 3D organ cultures and by using genetically modified mouse models of human disease. Although salient features of Cx43 mutants have been revealed, these models do not necessarily reflect the complexity of the human context. To further overcome these limitations, we have acquired dermal fibroblasts from two ODDD-affected individuals harbouring D3N and V216L mutations in Cx43, along with familial controls. Using these ODDD patient dermal fibroblasts, which naturally produce less GJA1 gene product, along with RNAi and RNA activation (RNAa) approaches, we show that manipulating Cx43 expression triggers cellular gene reprogramming. Quantitative RT-PCR, Western blot and immunofluorescent analysis of ODDD patient fibroblasts show unusually high levels of extracellular matrix (ECM)-interacting proteins, including integrin α5β1, matrix metalloproteinases as well as secreted ECM proteins collagen-I and laminin. Cx43 knockdown in familial control cells produces similar effects on ECM expression, whereas Cx43 transcriptional up-regulation using RNAa decreases production of collagen-I. Interestingly, the enhanced levels of ECM-associated proteins in ODDD V216L fibroblasts is not only a consequence of increased ECM gene expression, but also due to an apparent deficit in collagen-I secretion which may further contribute to impaired collagen gel contraction in ODDD fibroblasts. These findings further illuminate the altered function of Cx43 in ODDD-affected individuals and highlight the impact of manipulating Cx43 expression in human cells. PMID:26349540

  5. 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.

  6. Spondylometepiphyseal dysplasia, Strudwick type.

    PubMed

    Anderson, C E; Sillence, D O; Lachman, R S; Toomey, K; Bull, M; Dorst, J; Rimoin, D L

    1982-11-01

    The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on chondro-osseous tissue from two of these 14 patients form the basis for delineating an entity distinct from the heterogeneous group of skeletal dysplasia involving spine and tubular bones, the spondyloepiphyseal, and spondylometaphyseal dysplasias. Disproportionately short limbs and delayed epiphyseal maturation are present at birth, and the entity is radiographically indistinguishable from spondyloepiphyseal dysplasia (SED) congenita during infancy. The metaphyseal change that allows identification of the entity described here develops during early childhood, and radiographically is seen as "dappling," ie, the mottled appearance of alternating zones of osteosclerosis and osteopenia. Severe scoliosis and cord compression may be important clinical problems related to the spine changes in adulthood. We have identified one family with two affected sibs and normal parents, suggesting autosomal recessive inheritance and distinguishing the entity from SED congenita that has autosomal dominant inheritance.

  7. Dysplasia of the contralateral hip in patients with unilateral late-detected congenital dislocation of the hip: 50 years' follow-up of 48 patients.

    PubMed

    Terjesen, T

    2014-09-01

    The aim of this study was to investigate the incidence of dysplasia in the 'normal' contralateral hip in patients with unilateral developmental dislocation of the hip (DDH) and to evaluate the long-term prognosis of such hips. A total of 48 patients (40 girls and eight boys) were treated for late-detected unilateral DDH between 1958 and 1962. After preliminary skin traction, closed reduction was achieved at a mean age of 17.8 months (4 to 65) in all except one patient who needed open reduction. In 25 patients early derotation femoral osteotomy of the contralateral hip had been undertaken within three years of reduction, and later surgery in ten patients. Radiographs taken during childhood and adulthood were reviewed. The mean age of the patients was 50.9 years (43 to 55) at the time of the latest radiological review. In all, eight patients (17%) developed dysplasia of the contralateral hip, defined as a centre-edge (CE) angle < 20° during childhood or at skeletal maturity. Six of these patients underwent surgery to improve cover of the femoral head; the dysplasia improved in two after varus femoral osteotomy and in two after an acetabular shelf operation. During long-term follow-up the dysplasia deteriorated to subluxation in two patients (CE angles 4° and 5°, respectively) who both developed osteoarthritis (OA), and one of these underwent total hip replacement at the age of 49 years. In conclusion, the long-term prognosis for the contralateral hip was relatively good, as OA occurred in only two hips (4%) at a mean follow-up of 50 years. Regular review of the 'normal' side is indicated, and corrective surgery should be undertaken in those who develop subluxation. PMID:25183584

  8. Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.

    PubMed

    Katoh-Fukui, Yuko; Igarashi, Maki; Nagasaki, Keisuke; Horikawa, Reiko; Nagai, Toshiro; Tsuchiya, Takayoshi; Suzuki, Erina; Miyado, Mami; Hata, Kenichiro; Nakabayashi, Kazuhiko; Hayashi, Keiko; Matsubara, Yoichi; Baba, Takashi; Morohashi, Ken-Ichirou; Igarashi, Arisa; Ogata, Tsutomu; Takada, Shuji; Fukami, Maki

    2015-11-01

    SOX9 haploinsufficiency underlies campomelic dysplasia (CD) with or without testicular dysgenesis. Current understanding of the phenotypic variability and mutation spectrum of SOX9 abnormalities remains fragmentary. Here, we report three patients with hitherto unreported SOX9 abnormalities. These patients were identified through molecular analysis of 33 patients with 46,XY disorders of sex development (DSD). Patients 1-3 manifested testicular dysgenesis or regression without CD. Patients 1 and 2 carried probable damaging mutations p.Arg394Gly and p.Arg437Cys, respectively, in the SOX9 C-terminal domain but not in other known 46,XY DSD causative genes. These substitutions were absent from ~120,000 alleles in the exome database. These mutations retained normal transactivating activity for the Col2a1 enhancer, but showed impaired activity for the Amh promoter. Patient 3 harbored a maternally inherited ~491 kb SOX9 upstream deletion that encompassed the known 32.5 kb XY sex reversal region. Breakpoints of the deletion resided within nonrepeat sequences and were accompanied by a short-nucleotide insertion. The results imply that testicular dysgenesis and regression without skeletal dysplasia may be rare manifestations of SOX9 abnormalities. Furthermore, our data broaden pathogenic SOX9 abnormalities to include C-terminal missense substitutions which lead to target-gene-specific protein dysfunction, and enhancer-containing upstream microdeletions mediated by nonhomologous end-joining. PMID:26740947

  9. Progression from low-grade dysplasia to malignancy in patients with Barrett's esophagus diagnosed by two or more pathologists

    PubMed Central

    Moole, Harsha; Patel, Jaymon; Ahmed, Zohair; Duvvuri, Abhiram; Vennelaganti, Sreekar; Moole, Vishnu; Dharmapuri, Sowmya; Boddireddy, Raghuveer; Yedama, Pratyusha; Bondalapati, Naveen; Uppu, Achuta; Vennelaganti, Prashanth; Puli, Srinivas

    2016-01-01

    AIM To evaluate annual incidence of low grade dysplasia (LGD) progression to high grade dysplasia (HGD) and/or esophageal adenocarcinoma (EAC) when diagnosis was made by two or more expert pathologists. METHODS Studies evaluating the progression of LGD to HGD or EAC were included. The diagnosis of LGD must be made by consensus of two or more expert gastrointestinal pathologists. Articles were searched in Medline, Pubmed, and Embase. Pooled proportions were calculated using fixed and random effects model. Heterogeneity among studies was assessed using the I2 statistic. RESULTS Initial search identified 721 reference articles, of which 53 were selected and reviewed. Twelve studies (n = 971) that met the inclusion criteria were included in this analysis. Among the total original LGD diagnoses in the included studies, only 37.49% reached the consensus LGD diagnosis after review by two or more expert pathologists. Total follow up period was 1532 patient-years. In the pooled consensus LGD patients, the annual incidence rate (AIR) of progression to HGD and or EAC was 10.35% (95%CI: 7.56-13.13) and progression to EAC was 5.18% (95%CI: 3.43-6.92). Among the patients down staged from original LGD diagnosis to No-dysplasia Barrett’s esophagus, the AIR of progression to HGD and EAC was 0.65% (95%CI: 0.49-0.80). Among the patients down staged to Indefinite for dysplasia, the AIR of progression to HGD and EAC was 1.42% (95%CI: 1.19-1.65). In patients with consensus HGD diagnosis, the AIR of progression to EAC was 28.63% (95%CI: 13.98-43.27). CONCLUSION When LGD is diagnosed by consensus agreement of two or more expert pathologists, its progression towards malignancy seems to be at least three times the current estimates, however it could be up to 20 times the current estimates. Biopsies of all Barrett’s esophagus patients with LGD should be reviewed by two expert gastroenterology pathologists. Follow-up strict surveillance programs should be in place for these patients.

  10. 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.

  11. 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

  12. Alveolar bone grafting in association with polyostotic fibrous dysplasia and bisphosphonate-induced abnormal bone turnover in a bilateral cleft lip and palate patient: a case report.

    PubMed

    Kodama, Yasumitsu; Ogose, Akira; Oguri, Yoshimitsu; Ubaidus, Sobhan; Iizuka, Tateyuki; Takagi, Ritsuo

    2012-09-01

    A case is presented of extensive alveolar bone grafting in a patient with bilateral cleft lip and palate and polyostotic fibrous dysplasia. The patient previously underwent bisphosphonate therapy. Because of an abnormal and often decreased bone turnover caused by the fibrous dysplasia and the bisphosphonate therapy, bone grafting in such a patient poses several potential difficulties. In addition, the histomorphometric analysis of the bone grafts showed markedly decreased bone turnover. However, alveolar bone grafting using the iliac crest was performed successfully. Sufficient occlusion was achieved by postoperative low-loading orthodontic treatment.

  13. Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction.

    PubMed

    Mejia, Juan Diego; Cervantes, Luisa; Puerta, Herminia; Bauer, Mislen; Diaz, Alejandro

    2014-09-01

    Hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome (HDRS) is comprised of a triad of conditions. It is an autosomal dominant condition caused by mutations in the GATA3 gene, located at 10p15, a critical region in the development of the embryonic parathyroid glands, inner ear, and kidneys. Here we describe the case of a patient with all three components of HDR syndrome diagnosed in the neonatal period who presented with cerebral infarction, hypocalcemia, and renal anomalies. Upon chromosomal microarray he was found to have an interstitial deletion at 10p, which produced a partial deletion in the GATA3 gene.

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

    PubMed

    Kamoda, T; Nakajima, R; Matsui, A; Nishimura, G

    2001-02-01

    We report a Japanese boy, who is considered as having Patterson-Lowry rhizomelic dysplasia, a rare, as yet undefined, skeletal dysplasia. The diagnosis was warranted by the constellation of skeletal abnormalities - mild platyspondyly, hypoplastic ilia, broad proximal femora with prominent lesser trochanters, mild brachymetacarpalia and, most importantly, rhizomelic shortening of the upper limbs with lateral bowing, medial cortical thickening, and medial metaphyseal notching of the humeri. Our patient, unlike previously reported patients, had respiratory distress and died suddenly of unknown cause in late infancy. Our experience may imply the heterogeneity or phenotypic variability of Patterson-Lowry rhizomelic dysplasia. PMID:11214690

  15. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

    PubMed Central

    2013-01-01

    Background Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is early hematopoietic stem cell transplantation (HSCT). However, skeletal disease, including hip dysplasia, is almost invariably present in MPS I-H, and appears to be particularly unresponsive to HSCT. Hip dysplasia may lead to pain and loss of ambulation, at least in a subset of patients, if left untreated. However, there is a lack of evidence to guide the development of clinical guidelines for the follow-up and treatment of hip dysplasia in patients with MPS I-H. Therefore, an international Delphi consensus procedure was initiated to construct consensus-based clinical practice guidelines in the absence of available evidence. Methods A literature review was conducted, and publications were graded according to their level of evidence. For the development of consensus guidelines, eight metabolic pediatricians and nine orthopedic surgeons with experience in the care of MPS I patients were invited to participate. Eleven case histories were assessed in two written rounds. For each case, the experts were asked if they would perform surgery, and they were asked to provide information on the aspects deemed essential or complicating in the decision-making process. In a subsequent face-to-face meeting, the results were presented and discussed. Draft consensus statements were discussed and adjusted until consensus was reached. Results Consensus was reached on seven statements. The panel concluded that early corrective surgery for MPS I-H patients with hip dysplasia should be considered. However, there was no full consensus as to whether such a procedure should be offered to all patients with hip dysplasia to prevent complications or whether a more conservative approach with surgical intervention only in those patients who develop clinically relevant symptoms

  16. A Preliminary Study to Analyze the Cranio-facial Growth of an Ectodermal Dysplasia Patient After Prosthetic Rehabilitation.

    PubMed

    Bhalla, Gaurav; Agrawal, Kaushal Kishor; Singh, Kamleshwar; Singh, Balandra Pratap; Goel, Prachi

    2013-03-01

    An experimental study on craniofacial development and jaw growth pattern of an ectodermal dysplasia patient was performed and was compared with normal individual. An ectodermal dysplasia patient with complete anodontia was prosthetically rehabilitated with complete dentures at age of 6 and 8 years. Two sets of complete dentures were made with age-appropriate denture teeth and a lingualized occlusal scheme. Periodic follow up and adjustment whether needed was done to maintain proper oral function and aesthetics. Serial cephalometric analysis exhibited a marked restriction of forward growth at the ANS point during 6-8 years of age although there was a little change from average in the anteroposterior length of mandibular body and the height of mandibular ramus. So, the maxillary growth was reduced but there was no significant change in the mandibular growth. Cast analysis showed that increase in arch length was greater than in arch width for both maxilla and mandible. There was a little increase in alveolar ridge height in the anterior region but there was a considerable increase in the height of the alveolar ridge in the middle and the posterior region. Our findings concluded that the absence of teeth did not affect the growth of the jaws and probably the denture flange did not arrest the jaw growth, rather it improved the masticatory function by providing good denture stability and retention. PMID:24431706

  17. Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.

    PubMed

    Numakura, Chikahiko; Kitanaka, Sachiko; Kato, Mitsuhiro; Ishikawa, Shigeo; Hamamoto, Yoshioki; Katsushima, Yuriko; Kimura, Toshiyuki; Hayasaka, Kiyoshi

    2010-09-01

    SOX2 anophthalmia syndrome characteristically presents as anophthalmia or microphthalmia, with various extraocular symptoms, such as hypogonadotropic hypogonadism, brain anomaly, and esophageal abnormalities. In this report, we describe a patient with SOX2 anophthalmia syndrome complicated with a dental anomaly, multiple supernumerary impacted teeth, and persistence of deciduous teeth. Multiple supernumerary teeth are usually not solitary symptoms, but indicate systemic syndrome such as cleidocranial dysplasia. In odontogenesis, many transcriptional factors, such as BMPs, FGFs, and Wnts, play significant roles and SOX2 is known to interact with some of them. The role of SOX2 in dental development remains unknown, however, multiple supernumerary teeth can be considered as extraocular symptoms of SOX2 anophthalmia syndrome, rather than the coincidence of two rare diseases.

  18. 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

  19. Fibrous dysplasia

    MedlinePlus

    ... page, please enable JavaScript. Fibrous dysplasia is a bone disease that destroys and replaces normal bone with fibrous ... A.M. Editorial team. Related MedlinePlus Health Topics Bone Diseases Browse the Encyclopedia A.D.A.M., Inc. ...

  20. Implication of acetabular width on the anteroposterior pelvic radiograph of patients with developmental dysplasia of the hip.

    PubMed

    Nie, Yong; Pei, Fuxing; Shen, Bin; Kang, Pengde; Li, Zongming

    2015-03-01

    Radiographic parameters that can help acetabular reconstruction during total hip arthroplasty (THA) for patients with developmental dysplasia of the hip (DDH) are few. The radiographs of 138 dysplastic hips that had undergone cementless THA were evaluated regarding the acetabular width above the acetabular component and the coverage of the component by native bone. The acetabular reconstruction process was simulated using 3D models from CT data, and the acetabular component coverage was calculated in 3D space based on the measurement and algorithm we proposed. Significant positive correlation between the acetabular width and the acetabular component coverage was found. Our study introduced a useful parameter, which can mark the superior reference position of the acetabular component for acetabular reconstruction in DDH patients. PMID:25311162

  1. A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

    PubMed

    Hazan, Filiz; Ostergaard, Pia; Ozturk, Taylan; Kantekin, Esin; Atlihan, Fusun; Jeffery, Steve; Ozkinay, Ferda

    2012-07-01

    Microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome.

  2. [Fibromuscular dysplasia of renal arteries].

    PubMed

    Plouin, Pierre-François; Fiquet, Béatrice; Bobrie, Guillaume; Jeunemaître, Xavier

    2016-04-01

    Fibromuscular dysplasia is non-atherosclerotic, non-inflammatory disease of the medium caliber arteries causing segmental stenosis, and sometimes aneurysm and/or dissection. Renal involvement is either asymptomatic or revealed by hypertension, rarely acute complications (renal infarction/hemorrhage). Cross-sectional imaging or angiography differentiates multifocal fibromuscular dysplasia (pearl necklace appearance) and focal fibromuscular dysplasia (tubular stenosis). Several differential diagnoses are to be mentioned. Carotid and vertebral involvement are possible. Smoking cessation must be encouraged. Selected patients benefit from renal revascularization. The best indications are recent or resistant hypertension, and progressive renal atrophy. Angioplasty without stent revascularization is the technique of choice in purely stenotic forms. PMID:26968476

  3. Computed tomography of fibrous dysplasia

    SciTech Connect

    Daffner, R.H.; Kirks, D.R.; Gehweiler, J.A. Jr.; Heaston, D.K.

    1982-11-01

    Skeletal fibrous dysplasia produces changes that are usually readily recognized on plain radiographs. Occasionally, routine radiography may not demonstrate the characteristic appearance of the disease. The density of abormal bone in craniofacial fibrous dysplasia may preclude adequate assessment of areas where soft-tissue impingement may occur. Computed tomography (CT) is useful in demonstrating the amorphous ''ground-glass'' texture of the lesion and in defining the extent of craniofacial disease including impingement upon orbital structures. CT was useful in five patients with fibrous dysplasia in whom the nature or extent of involvement was not entirely clear.

  4. 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...

  5. Hypohidrotic Ectodermal Dysplasia: Prosthetic and Endodontic Management

    PubMed Central

    Jain, Sandhya; Kumar, Alok; Rahangdale, Tripty

    2010-01-01

    Individuals affected by ectodermal dysplasia syndromes have abnormalities of the glands, tooth buds, hair follicles, and nail development. Oral finding in ectodermal dysplasia patient are significant and can include multiple abnormalities of the dentition such as anodontia, hy-podontia or malformed and widely spaced peg like teeth, loss of occlusal vertical dimension, protuberant lips and lack of normal alveolar ridge development. This clinical report describes a combined surgical, pedodontic, and prosthodontic approach for the treatment of a patient with hypohidrotic ectodermal dysplasia.

  6. Fibromuscular dysplasia

    PubMed Central

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

    2007-01-01

    Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. Histological classification discriminates three main subtypes, intimal, medial and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string-of-beads' appearance that is related to medial FMD, and tubular and focal types, which are not clearly related to specific histological lesions. Renovascular hypertension is the most common manifestation of renal artery FMD. Multifocal stenoses with the 'string-of-beads' appearance are observed at angiography in more than 80% of cases, mostly in women aged between 30 and 50 years; they generally involve the middle and distal two-thirds of the main renal artery and in some case also renal artery branches. Cervicocranial FMD can be complicated by dissection with headache, Horner's syndrome or stroke, or can be associated with intracerebral aneurysms with a risk of subarachnoid or intracerebral hemorrhage. The etiology of FMD is unknown, although various hormonal and mechanical factors have been suggested. Subclinical lesions are found at arterial sites distant from the stenotic arteries, and this suggests that FMD is a systemic arterial disease. It appears to be familial in 10% of cases. Noninvasive diagnostic tests include, in increasing order of accuracy, ultrasonography, magnetic resonance angiography and computed tomography angiography. The gold standard for diagnosing FMD is catheter angiography, but this invasive procedure is only used for patients in whom it is clinically pertinent to proceed with revascularization during the same procedure. Differential diagnosis include atherosclerotic stenoses and

  7. Defining dysplasia in Barrett esophagus.

    PubMed

    Robert, Marie E

    2003-01-01

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

  8. Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.

    PubMed

    Ozer, Leyla; Unsal, Evrim; Aktuna, Suleyman; Baltaci, Volkan; Celikkol, Pelin; Akyigit, Fatma; Sen, Askin; Ayvaz, Ozge; Balci, Sevim

    2016-07-01

    Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A and type B. The vast majority of MAD cases are caused by LMNA gene mutations. MAD patients with type A lipodystrophy (MADA) have been reported to have LMNA R527H, A529V, or A529T mutations. In this report, we describe two MADA patients with progressive skeletal changes, absent breast development, and cataract in addition to the classical MAD phenotype. Both patients were found to be homozygous for the Ala529Val mutation of the LMNA gene. Our female patient is the oldest MADA patient (59 years old) who has ever been reported with the LMNA mutation and also the LMNA Ala529Val mutation. This study is the second report on MADA patients with a homozygous Ala529Val mutation. PMID:27100822

  9. Arrhythmogenic Right Ventricular Dysplasia

    MedlinePlus

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

  10. ‘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

  11. 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.

  12. 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

  13. Pediatric aspects of skeletal dysplasia.

    PubMed

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

    2012-10-01

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

  14. de la Chapelle dysplasia.

    PubMed

    Whitley, C B; Burke, B A; Granroth, G; Gorlin, R J

    1986-09-01

    Since the description by de la Chapelle and colleagues of two sibs with a unique skeletal dysplasia, two additional cases have occurred, one in the original Finnish family and one sporadic patient born to unrelated parents of Belgian descent. The original Finnish family has later had a fourth child, a normal daughter who was found to be unaffected upon radiographic examination in the 19th week of gestation. These additional findings are compatible with recessive inheritance. Physical features common to these four patients include cleft palate, small thorax, moderately severe micromelia with small hands, and equinovarus deformity. In each case, the ulnae and fibulae were reduced to an almost triangular osseous remnant. Other long bones were short and bowed. Neonatal death occurred in all cases and may be attributed to a consistent triad of respiratory tract malformations: laryngeal stenosis, tracheobronchomalacia, and pulmonary hypoplasia. Clinical and radiographic features are sufficiently unique to distinguish de la Chapelle dysplasia from other disorders in the spectrum of neonatal lethal osteochondrodysplasias. Lacunar halos were identified as a distinctive histopathologic feature also observed in achondrogenesis but not in several other skeletal dysplasias. PMID:3799721

  15. Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.

    PubMed

    Macías-Gómez, Nelly Margarita; Mégarbané, André; Leal-Ugarte, Evelia; Rodríguez-Rojas, Lisa Ximena; Barros-Núñez, Patricio

    2004-08-30

    The osteochondrodysplasias represent a heterogeneous group of cartilage and bone diseases. Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2). This group of osteochondrodysplasias shows a continuous spectrum of clinical variability and shares many features in common. Usually, it is difficult to distinguish clinically among these patients. To date, several efforts have been made to correlate mutations in the SLC26A2 gene with phenotypic severity in the patients. We report on a Mexican girl with diastrophic dysplasia presenting some unusual clinical and radiographic features that are usually observed in atelosteogenesis type II. Molecular analysis of the SLC26A2 gene in this patient showed compound heterozygosity for the R178X and R279W mutations. In this patient, the combination of a mild and a severe mutation has apparently led to an intermediate or transitional clinical picture, showing an apparent genotype-phenotype correlation. PMID:15316973

  16. Diagnosis and management of gastric dysplasia

    PubMed Central

    Sung, Jae Kyu

    2016-01-01

    Gastric dysplasia is a neoplastic lesion and a precursor of gastric cancer. The Padova, Vienna, and World Health Organization classifications were developed to overcome the discrepancies between Western and Japanese pathologic diagnoses and to provide a universally accepted classification of gastric epithelial neoplasia. At present, the natural history of gastric dysplasia is unclear. Much evidence suggests that patients with high-grade dysplasia are at high risk of progression to carcinoma or synchronous carcinoma. Therefore, endoscopic resection is required. Although patients with low-grade dysplasia have been reported to be at low risk of progression to carcinoma, due to the marked histologic discrepancies between forceps biopsy and endoscopic specimens, endoscopic resection for this lesion is recommended, particularly in the presence of other risk factors (large size; depressed gross type; surface erythema, unevenness, ulcer, or erosion; and tubulovillous or villous histology). Helicobacter pylori eradication in patients with dysplasia after endoscopic resection appear to reduce the incidence of metachronous lesions. PMID:26932397

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

    PubMed

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

    1991-12-15

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

  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. Glaucoma in oculo-dento-osseous dysplasia.

    PubMed

    Traboulsi, E I; Parks, M M

    1990-03-15

    Two patients with oculo-dento-osseous dysplasia developed glaucoma in infancy or early childhood. Aggressive surgical management resulted in the preservation of vision in both patients in at least one eye. A review of published reports disclosed that glaucoma in oculo-dento-osseous dysplasia develops at different ages and is possibly secondary to a variety of mechanisms. Glaucoma is the main cause of visual loss in this syndrome, for which patients otherwise have a good prognosis for life and intellect. Early screening for glaucoma in oculo-dento-osseous dysplasia is mandatory, especially when there are symptoms that suggest high intraocular pressure.

  20. The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis.

    PubMed

    Al Kaissi, Ali; Ganger, Rudolf; Hofstaetter, Jochen G; Klaushofer, Klaus; Grill, Franz

    2011-10-01

    The aim of the article is fourfold; firstly, to detect the aetiology of torticollis in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome; secondly, spine pathology in Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome varies considerably from one patient to another and there are remarkable differences in severity and localization; thirdly, mismanagement of congenital spine pathology is a frequent cause of morbid/fatal outcome; and fourthly, the application of prophylactic surgical treatment to balance the growth of the spine at an early stage is mandatory. Reformatted CT scans helped in exploring the craniocervical and the entire spine in these patients. The reason behind torticollis ranged between aplasia of the posterior arch of the atlas, assimilation of the atlas and extensive fusion of the lower cervical vertebrae (bilateral failure of segmentation) in four patients; in one patient, in addition to the hypoplastic posterior arch of the atlas, we observed ossification of the anterior and the posterior longitudinal spinal ligaments giving rise to a block vertebrae-like suggestive of early senile ankylosing vertebral hyperostosis (Forestier disease). Scoliosis at different spine levels was attributable to variable spine defects. Pelvic ultrasound showed the classical renal agenesis in four patients; whereas in one patient, the MRI showed pelvic cake kidney (renal fused ectopia) associated with ovarian, uterine and vaginal abnormalities. This is the first exploratory study on the craniocervical and the entire spine in a group of patients with MURCS association.

  1. Ocular manifestations of frontonasal dysplasia.

    PubMed

    Roarty, J D; Pron, G E; Siegel-Bartelt, J; Posnick, J C; Buncic, J R

    1994-01-01

    The ophthalmologic findings associated with frontonasal dysplasia have not been defined previously in a large series of untreated children. We reviewed the ophthalmic manifestations of a series of patients with frontonasal dysplasia who were seen as part of their craniofacial evaluation. All had undergone a complete ophthalmologic examination before any manipulation of either the orbits or the soft tissues of the orbital contents. From 1986 to 1991, 23 patients with frontonasal dysplasia were seen; ophthalmologic abnormalities were found in 20 (87 percent). Abnormalities included significant refractive errors, strabismus, nystagmus, and eyelid ptosis. Three patients had amblyopia, a treatable cause of visual loss, from strabismus or anisometropia. Ten eyes in seven patients (30 percent) had severe structural anomalies, such as optic nerve hypoplasia, optic nerve colobomas, microphthalmia, cataract, corneal dermoid, or inflammatory retinopathy, that resulted in an acuity of 20/100 or worse. The high incidence of ocular abnormalities indicates that early assessment by an ophthalmologist should be part of the initial evaluation of patients with frontonasal dysplasia to detect treatable visual or ocular problems. PMID:8278482

  2. Craniofacial fibrous dysplasia.

    PubMed

    Ricalde, Pat; Magliocca, Kelly R; Lee, Janice S

    2012-08-01

    Despite recent advances in the understanding of the natural history and molecular abnormalities, many questions remain surrounding the progression and management of fibrous dysplasia (FD). In the absence of comorbidities, the expected behavior of craniofacial FD (CFD) is to be slow growing and without functional consequence. Understanding of the pathophysiologic mechanisms contributing to the various phenotypes of this condition, as well as the predictors of the different behaviors of FD lesions, must be improved. Long-term follow-up of patients with CFD is vital because spontaneous recovery is unlikely, and the course of disease can be unpredictable. PMID:22771278

  3. 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

  4. 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. PMID:25274931

  5. 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.

  6. 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. PMID:25183583

  7. Multilineage dysplasia does not influence prognosis in CEBPA-mutated AML, supporting the WHO proposal to classify these patients as a unique entity.

    PubMed

    Bacher, Ulrike; Schnittger, Susanne; Macijewski, Katja; Grossmann, Vera; Kohlmann, Alexander; Alpermann, Tamara; Kowarsch, Andreas; Nadarajah, Niroshan; Kern, Wolfgang; Haferlach, Claudia; Haferlach, Torsten

    2012-05-17

    In 2008, the World Health Organization introduced CEBPA (encoding the CCAAT/enhancer binding protein)-mutated acute myeloid leukemia (AML) as a provisional entity. However, the classification of CEBPA-mutated AML with multilineage dysplasia (MLD; ≥ 50% dysplastic cells in 2-3 lineages) remains to be clarified. In the present study, we investigated 108 CEBPA-mutated AML patients for the impact of MLD, karyotype, and additional mutations. MLD(+) patients differed from MLD(-) patients only by lower mean WBC counts, not by biologic characteristics, cytogenetic risk profiles, or additional mutations. Survival was better for female patients, patients < 60 years of age, for intermediate versus adverse karyotypes, and, in the case of FLT3-ITD negativity, biallelic versus monoallelic/homozygous CEBPA mutations. In contrast, 2-year overall survival and event-free survival did not differ significantly between MLD(+) and MLD(-) patients. By univariable Cox regression analysis, sex, age, WBC count, and cytogenetic risk category were related to overall survival, but MLD was not. Therefore, because dysplasia is not relevant for this subtype, CEBPA-mutated AML patients should be characterized only according to mutation status, cytogenetic risk group, or additional mutations. PMID:22442349

  8. Genetics Home Reference: oculodentodigital dysplasia

    MedlinePlus

    ... Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circ Res. 2005 May 27;96(10):e83-91. Epub 2005 May 5. Citation on PubMed Vreeburg M, de Zwart-Storm EA, Schouten MI, Nellen RG, ...

  9. Cementless total hip replacement without femoral osteotomy in patients with severe developmental dysplasia of the hip: minimum 15-year clinical and radiological results.

    PubMed

    Imbuldeniya, A M; Walter, W L; Zicat, B A; Walter, W K

    2014-11-01

    We describe the clinical and radiological results of cementless primary total hip replacement (THR) in 25 patients (18 women and seven men; 30 THRs) with severe developmental dysplasia of the hip (DDH). Their mean age at surgery was 47 years (23 to 89). In all, 21 hips had Crowe type III dysplasia and nine had Crowe type IV. Cementless acetabular components with standard polyethylene liners were introduced as close to the level of the true acetabulum as possible. The modular cementless S-ROM femoral component was used with a low resection of the femoral neck. A total of 21 patients (25 THRs) were available for review at a mean follow-up of 18.7 years (15.8 to 21.8). The mean modified Harris hip score improved from 46 points pre-operatively to 90 at final follow up (p < 0.001). A total of 15 patients (17 THRs; 57%) underwent revision of the acetabular component at a mean of 14.6 years (7 to 20.8), all for osteolysis. Two patients (two THRs) had symptomatic loosening. No patient underwent femoral revision. Survival with revision of either component for any indication was 81% at 15 years (95% CI 60.1 to 92.3), with 21 patients at risk. This technique may reduce the need for femoral osteotomy in severe DDH, while providing a good long-term functional result. PMID:25371455

  10. [Importance of upper digestive endoscopy using lugol dye solution for the diagnosis of superficial esophageal cancer and dysplasia in patients with head and neck neoplasms].

    PubMed

    Tincani, A J; Brandalise, N; Andreollo, N A; Lopes, L R; Montes, C G; Altemani, A; Martins, A S

    2000-01-01

    Head and neck cancer has a high incidence in Brazil, with cancer of the oral cavity being one of the five most common cancers among Brazilians. Alcohol and tobacco consumption may contribute to synchronous or metachronous head and neck cancer and esophageal cancer. A prospective study involving 60 patients with head and neck cancer was carried out at the State University of Campinas--UNICAMP, Campinas, SP, Brazil to screen for superficial esophageal cancer and dysplasia using endoscopy and a 2% lugol dye solution followed by biopsy of the suspicious areas. Five patients (8.3%) had superficial esophageal cancer, which was diagnosed as intraepithelial carcinoma in three of them (5.0%). In four patients, the superficial esophageal cancer was synchronous and in one it was metachronous to head and neck cancer. Five patients (8.3%) had dysplasias in the esophageal epithelium (three were classified as mild and two as moderate). These results demonstrate the value of endoscopic screening of the esophagus using lugol dye in patients with head and neck cancer, particularly since superficial esophageal cancer is extremely difficult to detect by conventional methods in asymptomatic patients.

  11. A Case of Craniofacial Polyostotic Fibrous Dysplasia

    PubMed Central

    Clark, Justin; Carson, William

    2010-01-01

    We present the case of a patient with craniofacial polyostotic fibrous dysplasia. Polyostotic fibrous dysplasia is relatively rare and usually presents in late childhood/early adulthood. It is occasionally associated with endocrine disorders such as McCune-Albright syndrome. The benign pathology of this bone tumor belies its implications in the region of the skull base. Craniofacial polyostotic fibrous dysplasia can have devastating complications depending on which ostia are involved, including vision loss. Our patient was already beginning to experience visual field deficits from ischemic neuropathy. He was treated surgically with optic nerve decompression; however, the efficacy of this approach is currently being debated. PMID:22470752

  12. Therapy-Associated Myeloid Dysplasia in a Long-Surviving Patient with Pancreatic Cancer

    PubMed Central

    Suzukida, Jillian; Kaley, Kristin; Raza, Azra

    2016-01-01

    Pancreatic cancer remains a diagnosis of poor prognosis with a median survival time of four-six months in patients with advanced stage of the disease. Although, with the development of novel chemotherapy agents some patients are able to live a little longer if they respond to therapy. However, long-term complications of chemotherapy or radiotherapy are not known due to the short survival period of patients with pancreatic cancer. We present a case of a 55-year-old-woman who developed therapy-related myelodysplastic syndrome (t-MDS) during a survival of approximately eight years during which she received multiple chemotherapies and radiation therapy. She presented with progressive fatigue and pancytopenia, which led to further work-up and led to the diagnosis of t-MDS. The latency period to developing hematologic abnormalities as well as the presence of the chromosome 5 and 7 abnormalities in this patient are likely consistent with t-MDS and possibly related to the use of chemotherapeutic agents such as oxaliplatin or irinotecan and radiation therapy. PMID:27555985

  13. Therapy-Associated Myeloid Dysplasia in a Long-Surviving Patient with Pancreatic Cancer.

    PubMed

    Suzukida, Jillian; Kaley, Kristin; Raza, Azra; Saif, Muhammad W

    2016-01-01

    Pancreatic cancer remains a diagnosis of poor prognosis with a median survival time of four-six months in patients with advanced stage of the disease. Although, with the development of novel chemotherapy agents some patients are able to live a little longer if they respond to therapy. However, long-term complications of chemotherapy or radiotherapy are not known due to the short survival period of patients with pancreatic cancer. We present a case of a 55-year-old-woman who developed therapy-related myelodysplastic syndrome (t-MDS) during a survival of approximately eight years during which she received multiple chemotherapies and radiation therapy. She presented with progressive fatigue and pancytopenia, which led to further work-up and led to the diagnosis of t-MDS. The latency period to developing hematologic abnormalities as well as the presence of the chromosome 5 and 7 abnormalities in this patient are likely consistent with t-MDS and possibly related to the use of chemotherapeutic agents such as oxaliplatin or irinotecan and radiation therapy. PMID:27555985

  14. 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

  15. Focal Cortical Dysplasia in Childhood Epilepsy.

    PubMed

    Shaker, Tarek; Bernier, Anne; Carmant, Lionel

    2016-05-01

    Focal cortical dysplasia is a common cause of medication resistant epilepsy. A better understanding of its presentation, pathophysiology and consequences have helped us improved its treatment and outcome. This paper reviews the most recent classification, pathophysiology and imaging findings in clinical research as well as the knowledge gained from studying genetic and lesional animal models of focal cortical dysplasia. This review of this recently gained knowledge will most likely help develop new research models and new therapeutic targets for patients with epilepsy associated with focal cortical dysplasia. PMID:27544467

  16. 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.

  17. 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. PMID:24824767

  18. 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

  19. Laser-induced fluorescence detection of dysplasia in Barrett's esophagus

    NASA Astrophysics Data System (ADS)

    Panjehpour, Masoud; Overholt, Bergein F.; Vo-Dinh, Tuan; Edwards, Donna H.; Buckley, Paul F., III; DeCosta, Joseph F.; Haggitt, Rodger C.

    1996-04-01

    A study was conducted to determine whether laser-induced fluorescence could detect high grade dysplasia in Barrett's esophagus. Four-hundred-ten nm laser light was used to induce autofluorescence of Barrett's mucosa in 36 patients during routine endoscopy. The spectra were analyzed using the Differential Normalized Fluorescence (DNF) Index technique to differentiate high grade dysplasia from either low grade or non-dysplastic mucosa. Each spectrum was classified as either premalignant or benign using two different DNF indices. Analyzing the fluorescence spectra from all patients using one DNF Index, 96% of non- dysplastic Barrett's samples classified as benign tissue. All low grade dysplasia samples classified as benign. Ninety percent of high grade dysplasia samples classified as premalignant. Twenty-eight percent of mixed low grade/focal high grade dysplasia samples classified as premalignant. In summary, high grade dysplasia in Barrett's esophagus patients can be detected by endoscopic laser-induced fluorescence spectroscopy using differential normalized fluorescence technique.

  20. Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.

    PubMed Central

    Yamamoto, T; Kurihara, N; Yamaoka, K; Ozono, K; Okada, M; Yamamoto, K; Matsumoto, S; Michigami, T; Ono, J; Okada, S

    1993-01-01

    Craniometaphyseal dysplasia (CMD) is a rare craniotubular bone dysplasia transmitted in autosomal dominant or recessive form. This disease is characterized by cranial bone hyperostosis and deformity of the metaphyses of the long bones. Using osteoclast-like cells formed from patient bone marrow cells, we investigated the pathophysiology of CMD in a 3-yr-old patient. Untreated bone marrow cells from the patient differentiated into osteoclast-like cells in vitro. These cells were shown to have vitronectin beta-receptors using a specific monoclonal antibody, i.e., 23C6 (CD51), which reacts with osteoclasts in human bone biopsy samples. However, the number of these osteoclast-like cells formed from the patient's bone marrow was only 40% of the normal controls. 1,25-dihydroxyvitamin-D3, bovine 1-34 parathyroid hormone, recombinant human interleukin-1 beta, recombinant human interleukin-6, or recombinant human macrophage colony-stimulating factor significantly increased, while salmon calcitonin significantly inhibited, the number of osteoclast-like cells. However, these cells could not resorb sperm whale dentin slices and lacked the osteoclast-reactive vacuolar proton pump as evidenced by a monoclonal antibody (E11). Western blot analysis using a monoclonal antibody to pp60c-src (327) revealed that protooncogene c-src expression by the platelets of the CMD patient was comparable to the normal control. These data suggest that: (a) the hyperostosis and the metaphyseal long bone deformity in the present CMD patient might be explained by osteoclast dysfunction due to impaired expression of the osteoclast-reactive vacuolar proton pump; and (b) a protooncogene c-src was not associated with the pathogenesis of the present CMD patient. Images PMID:7678608

  1. Fibrous Dysplasia

    MedlinePlus

    ... MAGIC Foundation Website: http://www.magicfoundation.org Rare Bone Disease Patient Network Website: http://usbjd.org/projects/RBDPN_ ... Pub. No. 15-7774 NIH Osteoporosis and Related Bone Diseases ~ National Resource Center 2 AMS Circle Bethesda, MD ...

  2. Fibromuscular Dysplasia

    MedlinePlus

    ... and B), or even serious complications such as aneurysms (bulging of the arteries) or dissections (tears of ... of FMD? Patients with FMD can develop an aneurysm or dissection in the affected arteries that can ...

  3. Ectodermal dysplasia: a review and case report.

    PubMed

    Itthagarun, A; King, N M

    1997-09-01

    Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. Intraorally, common findings are anodontia or hypodontia, conical teeth, and, consequently, generalized spacing. The patient may suffer from dry skin, hyperthermia, and unexplained high fever as a result of the deficiency of sweat glands. The present review focuses on the clinical manifestations, classifications, and diagnosis of ectodermal dysplasia. A 6-year-old girl, described in the case report, exhibited many of the manifestations of ectodermal dysplasia as well as behavioral problems and a severe gag reflex. The treatment to improve her appearance and oral function included a removable prosthesis, acid-etch-retained indirect resin composite veneers, and a fixed partial denture. PMID:9477874

  4. Arthroscopy of the hip for patients with mild to moderate developmental dysplasia of the hip and femoroacetabular impingement: Outcomes following hip arthroscopy for treatment of chondrolabral damage.

    PubMed

    Fukui, K; Trindade, C A C; Briggs, K K; Philippon, M J

    2015-10-01

    The purpose of this study was to determine patient-reported outcomes of patients with mild to moderate developmental dysplasia of the hip (DDH) and femoroacetabular impingement (FAI) undergoing arthroscopy of the hip in the treatment of chondrolabral pathology. A total of 28 patients with a centre-edge angle between 15° and 19° were identified from an institutional database. Their mean age was 34 years (18 to 53), with 12 female and 16 male patients. All underwent labral treatment and concomitant correction of FAI. There were nine reoperations, with two patients requiring revision arthroscopy, two requiring periacetabular osteotomy and five needing total hip arthroplasty. Patients who required further major surgery were more likely to be older, male, and to have more severe DDH with a larger alpha angle and decreased joint space. At a mean follow-up of 42 months (24 to 89), the mean modified Harris hip score improved from 59 (20 to 98) to 82 (45 to 100; p < 0.001). The mean Western Ontario and McMaster Universities Osteoarthritis Index score improved from 30 (1 to 61) to 16 (0 to 43; p < 0.001). Median patient satisfaction was 9.0/10 (1 to 10). Patients reported excellent improvement in function following arthroscopy of the hip. This study shows that with proper patient selection, arthroscopy of the hip can be successful in the young patient with mild to moderate DDH and FAI. PMID:26430004

  5. 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

  6. 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

  7. 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

  8. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

    PubMed

    Jamsheer, Aleksander; Olech, Ewelina M; Kozłowski, Kazimierz; Niedziela, Marek; Sowińska-Seidler, Anna; Obara-Moszyńska, Monika; Latos-Bieleńska, Anna; Karczewski, Marek; Zemojtel, Tomasz

    2016-07-01

    Desbuquois dysplasia type 2 (DBQD2) is a rare recessively inherited skeletal genetic disorder characterized by severe prenatal and postnatal growth retardation, generalized joint laxity with dislocation of large joints and facial dysmorphism. The condition was recently described to result from autosomal recessive mutations in XYLT1, encoding the enzyme xylosyltransferase-1. In this paper, we report on a Polish patient with DBQD2 who presented with severe short stature of prenatal onset, joint laxity, psychomotor retardation and multiple radiological abnormalities including short metacarpals, advanced bone age and exaggerated trochanters. Endocrinological examinations revealed that sleep-induced growth hormone (GH) release and GH peak in clonidine- and glucagon-induced provocative tests as well as insulin-like growth factor 1 (IGF-1) and IGF-binding protein-3 levels were all markedly decreased, confirming deficiency of GH secretion. Bone age, unlikely to GH deficiency, was significantly advanced. To establish the diagnosis at a molecular level, we performed whole-exome sequencing and bioinformatic analysis in the index patient, which revealed compound heterozygous XYLT1 mutations: c.595C>T(p.Gln199*) and c.1651C>T(p.Arg551Cys), both of which are novel. Sanger sequencing showed that the former mutation was inherited from the healthy mother, whereas the latter one most probably occurred de novo. Our study describes the first case of DBQD2 resulting from compound heterozygous XYLT1 mutation, expands the mutational spectrum of the disease and provides evidence that the severe growth retardation and microsomia observed in DBQD2 patients may result not only from the skeletal dysplasia itself but also from GH and IGF-1 deficiency. PMID:27030147

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

    PubMed

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

    2010-10-01

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

  10. Maxillofacial fibrous dysplasia: a diagnostic challenge.

    PubMed

    Markov, Peter; Syed, Ali Zakir; Markova, Christiana; Mendes, Rui Amaral

    2016-01-01

    A 30-year-old woman presented for orthodontic treatment, with a chief symptom of a 'shifting bite' and concurrent facial asymmetry with aesthetic concerns. The patient had previously received treatment from several general dentists and several specialists, without accurate diagnosis. Radiological investigation coupled with biopsy confirmed a diagnosis of fibrous dysplasia. Proper diagnosis led to changes in the treatment plan and gave the patient realistic expectations about the options she had for the outcome of treatment. Prompt diagnosis by dental practitioners is critical to patient satisfaction and successful outcome; therefore, it is important to familiarise ourselves with the signs, symptoms and proper course of management of fibrous dysplasia. PMID:27358102

  11. 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.

  12. 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

  13. Repeated salicylic acid peels for the treatment of hyperplastic sebaceous glands in hypohidrotic ectodermal dysplasia.

    PubMed

    Sgontzou, Themis; Armyra, Kalliopi; Kouris, Anargyros; Bokotas, Charalampos; Kontochristopoulos, George

    2014-12-01

    Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) is the most common type of ectodermal dysplasia. Hypertrophic sebaceous glands (HSGs) are rarely present but they cause an aesthetic problem. We report a case of a patient suffering from hypohidrotic ectodermal dysplasia, treated with salicylic acid peels for the hyperplastic sebaceous glands.

  14. Hip arthroscopy in the setting of hip dysplasia

    PubMed Central

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

    2016-01-01

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

  15. Stroboscopy in detection of laryngeal dysplasia effectiveness and limitations.

    PubMed

    Djukic, Vojko; Milovanovic, Jovica; Jotic, Ana D; Vukasinovic, Milan

    2014-03-01

    Vocal fold pathology changes the appearance and vibratory patterns observed during stroboscopic examination, but a strict correlation between the vibratory pattern and the dysplasia type does not exist. The aims of this study were to determine the role of stroboscopy in vocal fold dysplasia assessment and to determine whether stroboscopy is the deciding factor when performing laryngomicroscopy with biopsy in suspicious lesions. This prospective controlled study involved 112 patients with laryngeal dysplasia treated over a 2-year period at a tertiary medical center. Patient data and clinical, stroboscopy, laryngomicroscopy, and histopathologic reports were reviewed. During the stroboscopy, glottic occlusion, phase symmetry, periodicity, amplitude, mucosal wave, and nonvibratory segments were followed. Laryngomicroscopy with different types of endoscopic cordectomies (types I-III) was performed as a therapeutic measure, with a 12-month follow-up period. Nonvibrating segments were present in 15.1% of the patients with mild dysplasia and in 38.5% of the patients with moderate dysplasia. In 45.5% of the patients with severe dysplasia (carcinoma in situ), nonvibrating segments were absent. The amplitude of vocal fold vibrations in patients with mild dysplasia (P=0.03) was a significant factor indicative of recurrent disease, but none of the stroboscopic signs was significant for the disease progression. Severe dysplasia can be related to both nonvibrating and vibrating vocal fold segments. Stroboscopy cannot be used reliably for classifying laryngeal dysplasia and may indicate the need to perform laryngomicroscopy with biopsy in suspicious vocal fold lesions. The warning factors for recurrence and progression of dysplasia are treatment modality, abnormal amplitude of vibration, and nonvibrating segment. PMID:24275461

  16. Early Childhood Presentation of Czech Dysplasia

    PubMed Central

    Burrage, Lindsay C.; Lu, James T.; Liu, David S.; Moss, Timothy J.; Gibbs, Richard; Schlesinger, Alan E.; Bacino, Carlos A.; Campeau, Philippe M.; Lee, Brendan H.

    2013-01-01

    Czech dysplasia, metatarsal type is an autosomal dominant skeletal disorder that is characterized by early-onset, progressive arthritis, brachydactyly of the 3rd and 4th toes, and characteristic radiographic findings in patients of normal stature. Patients with Czech dysplasia typically present in late childhood or later. In the present report, whole exome sequencing identified a mutation in COL2A1 (c.823C>T, p.R275C) known to be associated with Czech dysplasia in a 3.5 year old female who had a family history of early-onset arthritis and who was asymptomatic except for prominent knees. The use of whole exome sequencing facilitated diagnosis of this rare disease (less than 15 families in the literature) in the presymptomatic period and thus enabled us to provide early anticipatory guidance and genetic counseling for the family. PMID:23448908

  17. [Skeletal dysplasias. The network SKELNET].

    PubMed

    Després, S; Engel, M W; Zabel, B

    2007-12-01

    The network concept of SKELNET was developed to meet the problems and requirements encountered caring for patients with skeletal dysplasias. Skeletal dysplasias are a clinically and genetically extremely diverse group of chronic genetic diseases, which primarily affect the development of the skeleton. The rarity, extensive heterogeneity and complex pathophysiology have made these conditions a challenge to diagnose and study. They represent a group of 200 to 300 specific disorders with patients located all across Germany. So far the diagnostic process in Germany relies on a few specialists who evaluate the X-rays and clinical picture of the patient. In addition, diagnostic tests are restricted to a few laboratories across Europe. Consequences are low efficiency in diagnosis, clinical management, treatment, follow-up and scientific knowledge resulting in extremely prolonged periods between upcoming symptoms and correct diagnosis, and probably a high number of unknown and insufficiently treated cases. The improvement of cooperation among the experts is one of the key points to optimize diagnostic procedures. As the cooperating clinical and scientific specialists are at various locations in Germany, one of the major efforts is to channel the different levels of clinical and research information, making patient data files accessible and transparent to experts. This approach aims at the development of new strategies for all-embracing high level patient care fulfilling all requirements concerning the protection of personal data.

  18. Rasmussen's encephalitis presenting as focal cortical dysplasia.

    PubMed

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

    2014-01-01

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

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

    PubMed

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

    1991-02-01

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

  20. Developmental dysplasia of the hip

    MedlinePlus

    ... Developmental hip dysplasia; DDH; Congenital dysplasia of the hip; Congenital dislocation of the hip; CDH; Pavlik harness ... dislocation Shorter leg on the side with the hip dislocation Uneven skin folds of thigh or buttocks After ...

  1. Genetics Home Reference: Greenberg dysplasia

    MedlinePlus

    ... develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray ... Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's ...

  2. 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.

  3. [A Case of Fibromuscular Dysplasia in a Patient with Various Main Trunk Dissections in the Head and Neck over a Short Period].

    PubMed

    Ando, Kazuhiro; Sasaki, Osamu; Watanabe, Masatoshi; Nashimoto, Takeo; Kikuchi, Bumpei

    2016-07-01

    We report a case of subarachnoid hemorrhage(SAH)from an intracranial vertebral artery(VA)dissection in a patient with fibromuscular dysplasia(FMD)who presented with headache. A 54-year-old woman complained of spontaneous occipital headache. The dilatation of the left VA was detected on magnetic resonance angiography(MRA). She was diagnosed with left VA dissection(headache onset type). After sudden onset of headache on the second day of hospitalization, her consciousness level, as defined by the Japan Coma Scale, was 300. Computed tomography(CT)revealed SAH. Cerebral angiography showed the dilatation of the left intracranial VA and contrast material pooling, which was suspected to be a sign of dissection. We performed VA intravascular ligation by coil embolization. The postoperative course was good but postoperative MRA revealed arterial wall irregularities in both the extra cranial internal carotid artery and the right VA. Cerebral angiography showed the presence of the string-of-beads sign at these arteries. She was diagnosed with FMD. SAH might develop during the follow-up period in patients with VA dissection, even those in whom the initial symptom is headache. In addition, cases of FMD might also be complicated by various lesions of the main trunk of the cerebral artery. PMID:27384119

  4. 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.

  5. Florid osseous dysplasia.

    PubMed

    Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Singh, Udita; Agarwal, Neha

    2013-01-01

    Florid osseous dysplasia (FOD) is the most dramatic and rare variant of the cemento-osseous lesions in which the normal cancellous bone is replaced by dense, acellular cemento-osseous tissue in a background of fibrous connective tissue. It appears to be a widespread form of periapical cemental dysplasia (PCD). No clear definition indicates that when the multiple lesions of PCD can be termed as FOD. If PCD is identified in three or four quadrants or is extensive in one jaw, then it is considered as FOD. Here, in this article, we report a case of FOD in 35-year-old woman. PMID:23814216

  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. PMID:27252441

  7. Recurrent Monostotic Fibrous Dysplasia in the Mandible.

    PubMed

    Alves, Nilton; 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

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

    PubMed

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

    2012-04-01

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

  10. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

    PubMed

    Montané, Lucia Sentchordi; Marín, Oliver R; Rivera-Pedroza, Carlos I; Vallespín, Elena; Del Pozo, Ángela; Heath, Karen E

    2016-06-01

    Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia associated with pain and stiffness of multiple joints, enlargement of the interphalangeal joints, normal inflammatory parameters, and absence of extra-skeletal manifestations. Homozygous or compound heterozygous WISP3 mutations cause PPD. We report two siblings from a non-consanguineous Ecuadorian family with a late-onset spondyloepiphyseal dysplasia. Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing. Two compound heterozygous mutations were identified in WISP3 exon 2, c.[190G>A];[197G>A] (p.[(Gly64Arg)];[(Ser66Asn)]) in the two siblings, both of which had been inherited. The p. (Gly64Arg) mutation has not been previously described whilst the p. (Ser66Asn) mutation has been reported in two PPD families. The two siblings presented with atypical PPD, as they presented during late childhood, yet the severity was different between them. The progression was particularly aggressive in the male sibling who suffered severe scoliosis by the age of 13 years. This case reaffirms the clinical heterogeneity of this disorder and the clinical utility of NGS to genetically diagnose skeletal dysplasias, enabling adequate management, monitorization, and genetic counseling. © 2016 Wiley Periodicals, Inc. PMID:26991965

  11. Effects of rotational acetabular osteotomy on the mechanical stress within the hip joint in patients with developmental dysplasia of the hip: a subject-specific finite element analysis.

    PubMed

    Ike, H; Inaba, Y; Kobayashi, N; Yukizawa, Y; Hirata, Y; Tomioka, M; Saito, T

    2015-04-01

    In this study we used subject-specific finite element analysis to investigate the mechanical effects of rotational acetabular osteotomy (RAO) on the hip joint and analysed the correlation between various radiological measurements and mechanical stress in the hip joint. We evaluated 13 hips in 12 patients (two men and ten women, mean age at surgery 32.0 years; 19 to 46) with developmental dysplasia of the hip (DDH) who were treated by RAO. Subject-specific finite element models were constructed from CT data. The centre-edge (CE) angle, acetabular head index (AHI), acetabular angle and acetabular roof angle (ARA) were measured on anteroposterior pelvic radiographs taken before and after RAO. The relationship between equivalent stress in the hip joint and radiological measurements was analysed. The equivalent stress in the acetabulum decreased from 4.1 MPa (2.7 to 6.5) pre-operatively to 2.8 MPa (1.8 to 3.6) post-operatively (p < 0.01). There was a moderate correlation between equivalent stress in the acetabulum and the radiological measurements: CE angle (R = -0.645, p < 0.01); AHI (R = -0.603, p < 0.01); acetabular angle (R = 0.484, p = 0.02); and ARA (R = 0.572, p < 0.01). The equivalent stress in the acetabulum of patients with DDH decreased after RAO. Correction of the CE angle, AHI and ARA was considered to be important in reducing the mechanical stress in the hip joint. PMID:25820887

  12. Effects of rotational acetabular osteotomy on the mechanical stress within the hip joint in patients with developmental dysplasia of the hip: a subject-specific finite element analysis.

    PubMed

    Ike, H; Inaba, Y; Kobayashi, N; Yukizawa, Y; Hirata, Y; Tomioka, M; Saito, T

    2015-04-01

    In this study we used subject-specific finite element analysis to investigate the mechanical effects of rotational acetabular osteotomy (RAO) on the hip joint and analysed the correlation between various radiological measurements and mechanical stress in the hip joint. We evaluated 13 hips in 12 patients (two men and ten women, mean age at surgery 32.0 years; 19 to 46) with developmental dysplasia of the hip (DDH) who were treated by RAO. Subject-specific finite element models were constructed from CT data. The centre-edge (CE) angle, acetabular head index (AHI), acetabular angle and acetabular roof angle (ARA) were measured on anteroposterior pelvic radiographs taken before and after RAO. The relationship between equivalent stress in the hip joint and radiological measurements was analysed. The equivalent stress in the acetabulum decreased from 4.1 MPa (2.7 to 6.5) pre-operatively to 2.8 MPa (1.8 to 3.6) post-operatively (p < 0.01). There was a moderate correlation between equivalent stress in the acetabulum and the radiological measurements: CE angle (R = -0.645, p < 0.01); AHI (R = -0.603, p < 0.01); acetabular angle (R = 0.484, p = 0.02); and ARA (R = 0.572, p < 0.01). The equivalent stress in the acetabulum of patients with DDH decreased after RAO. Correction of the CE angle, AHI and ARA was considered to be important in reducing the mechanical stress in the hip joint.

  13. Mesenteric Arteriovenous Dysplasia/Vasculopathy Is Distinct From Fibromuscular Dysplasia.

    PubMed

    Patil, Deepa T; Kissiedu, Juliana; Rodriguez, E Rene; Downs-Kelly, Erinn; Liu, Xiuli; Rybicki, Lisa A; Tan, Carmela D

    2016-10-01

    Fibromuscular dysplasia (FMD) is a noninflammatory, nonatherosclerotic vasculopathy that usually affects the carotid and renal arteries. We have observed FMD-like vascular changes in specimens resected for ischemia or Crohn's disease (CD). On the basis of a systematic clinicopathologic review of these 11 cases identified between 1982 and 2014, we describe a distinct mesenteric vasculopathy that involves both arteries and veins [mesenteric arteriovenous dysplasia/vasculopathy (MAVD/V)] and is characterized by (1) concentric/eccentric smooth muscle collarette around the tunica media of both the artery and the vein in ≥2 foci, (2) varying degrees of intimal and medial hyperplasia and adventitial fibrosis, and (3) lack of inflammation or thrombi. MAVD/V cases were clinically diagnosed as CD (45%), mass/lesion (27%), ischemia (9%), obstruction (9%), or rectal prolapse (9%). Abdominal pain for >1 year was the most common symptom. Most patients were women (M:F=1:2.7; mean age, 63 y). Mucosal changes mimicking CD, such as architectural distortion (55%), multifocal ulcers (73%), and pyloric gland metaplasia (64%), were common; however, no granulomas or transmural lymphoid aggregates were identified. Ischemic pattern of injury was seen in 4 cases. Upon follow-up (mean, 31.2 mo), 8 patients were found to be asymptomatic, 2 had died of unrelated causes, and 1 was lost to follow-up. We propose the name MAVD/V for a distinct noninflammatory, nonatherosclerotic, localized form of mesenteric vasculopathy that involves both arteries and veins, distinct from FMD. Unlike FMD, surgical resection appears to be curative, with a favorable clinical outcome. Awareness of this vascular entity is important as patients may be potentially misdiagnosed as having CD and ischemic bowel disease. PMID:27487739

  14. Optic disc anomalies and frontonasal dysplasia

    PubMed Central

    Hodgkins, P; Lees, M; Lawson, J; Reardon, W; Leitch, J; Thorogood, P; Winter, R; Taylor, D

    1998-01-01

    AIMS—To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele.
METHODS—Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible.
RESULTS—Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other.
CONCLUSION—Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele.

 Keywords: frontonasal dysplasia; optic disc; encephalocele PMID:9602627

  15. The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

    PubMed

    Meena, Ratti Lal; Maloo, Sudheer Kumar; Samar, Neera; Ruhela, Asim; Saini, Subhash

    2015-06-01

    The syndrome of familial hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p. Although first described years ago, but the disease is considered to be very rare. Patients usually present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing loss is usually bilateral, range from mild to profound impairment. Renal disease includes dysplasia, hypoplasia or aplasia.

  16. Ectodermal Dysplasia: A Case Report

    PubMed Central

    2011-01-01

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

  17. Thanatophoric dysplasia: A review.

    PubMed

    Wainwright, H

    2016-06-01

    Thanatophoric dysplasia is a well-known cause of potentially lethal short-limbed dwarfism in the newborn. The diagnosis is usually made by the recognition of characteristic radiological changes and confirmed at autopsy by demonstration of specific morphological and histological changes in the brain. This review is based upon the author's personal experience and archived data of 19 cases and concerns the clinical and radiographic manifestations, autopsy findings, molecular pathogenesis and the approach to antenatal diagnosis. PMID:27245526

  18. "Baby rattle" pelvis dysplasia.

    PubMed

    Cormier-Daire, V; Savarirayan, R; Lachman, R S; Neidich, J A; Grace, K; Rimoin, D L; Wilcox, W R

    2001-04-15

    We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long bones of the limbs, absent vertebral body ossification, a unique "baby rattle" pelvic configuration with tall and broad ilia, absent endochondral ossification, regions of mesenchymal cells within the resting cartilage, and abnormal mesenchymal ossification. PMID:11337746

  19. Treatment of Dysplasia in Barrett Esophagus

    PubMed Central

    Aranda-Hernandez, Javier; Cirocco, Maria

    2014-01-01

    Barrett esophagus is recognized as a risk factor for the development of dysplasia and adenocarcinoma of the esophagus. Cancer is usually diagnosed at an advanced stage with a 5-year survival rate of 15%. Most of these patients present de novo and are not part of a surveillance program. Endoscopic screening with improvement in recognition of early lesions may change this pattern. In the past, patients diagnosed with dysplasia and mucosal cancer were best managed by esophagectomy. Endoscopic techniques such as endoscopic mucosal resection and radiofrequency ablation have resulted in high curative rates and a shift away from esophagectomy. This pathway is supported by the literature review of esophagectomies performed for mucosal disease, as well as pathologists' interpretation of endoscopic mucosal specimens, which document the low risk of lymph node metastasis. The role of endoscopic therapy for superficial submucosal disease continues to be a challenge. PMID:24570884

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

    PubMed

    Ogunsalu, C; Miles, D

    2005-09-01

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

  1. 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.

  2. Initial respiratory management in preterm infants and bronchopulmonary dysplasia

    PubMed Central

    López, Ester Sanz; Rodríguez, Elena Maderuelo; Navarro, Cristina Ramos; Sánchez-Luna, Manuel

    2011-01-01

    BACKGROUND: Ventilator injury has been implicated in the pathogenesis of bronchopulmonary dysplasia. Avoiding invasive ventilation could reduce lung injury, and early respiratory management may affect pulmonary outcomes. OBJECTIVE: To analyze the effect of initial respiratory support on survival without bronchopulmonary dysplasia at a gestational age of 36 weeks. DESIGN/METHODS: A prospective 3-year observational study. Preterm infants of <32 weeks gestational age were classified into 4 groups according to the support needed during the first 2 hours of life: room air, nasal continuous positive airway pressure, intubation/surfactant/extubation and prolonged mechanical ventilation (defined as needing mechanical ventilation for more than 2 hours). RESULTS: Of the 329 eligible patients, a total of 49% did not need intubation, and 68.4% did not require prolonged mechanical ventilation. At a gestational age of 26 weeks, there was a significant correlation between survival without bronchopulmonary dysplasia and initial respiratory support. Preterm infants requiring mechanical ventilation showed a higher risk of death and bronchopulmonary dysplasia. After controlling for gestational age, antenatal corticosteroid use, maternal preeclampsia and chorioamnionitis, the survival rate without bronchopulmonary dysplasia remained significantly lower in the mechanically ventilated group. CONCLUSIONS: In our population, the need for more than 2 hours of mechanical ventilation predicted the development of bronchopulmonary dysplasia in preterm infants with a gestational age >26 weeks (sensitivity = 89.5% and specificity = 67%). The need for prolonged mechanical ventilation could be an early marker for the development of bronchopulmonary dysplasia. This finding could help identify a target population with a high risk of chronic lung disease. Future research is needed to determine other strategies to prevent bronchopulmonary dysplasia in this high-risk group of patients. PMID

  3. 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. PMID:25957995

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

    PubMed Central

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

    2009-01-01

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

  5. Alveolar Capillary Dysplasia

    PubMed Central

    Stankiewicz, Pawel; Steinhorn, Robin H.

    2011-01-01

    Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants. This review aims to address recent findings in the etiology and genetics of ACD/MPV and to raise awareness of this poorly known disease, which may also present as milder, unclassified forms. Successively discussed are what is known about the epidemiology, pathogenesis, pathophysiology, diagnostic indicators and approaches, genetic testing, treatment, and cases of delayed onset. The review concludes with suggestions for future directions to answer the many unknowns about this disorder. PMID:21471096

  6. Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.

    PubMed

    Sangsin, A; Srichomthong, C; Pongpanich, M; Suphapeetiporn, K; Shotelersuk, V

    2016-01-01

    Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face, pectus carinatum, indirect inguinal hernia, platyspondyly, and generalized delayed endochondral ossification. Using whole-exome sequencing (WES), we successfully identified a de novo heterozygous mutation, c.2024G>A (p.G675D), in the COL2A1 gene, which, to our knowledge, has not been previously reported. These molecular findings helped provide a definite diagnosis of spondyloepiphyseal dysplasia congenita, aiding in proper management of the disease and improved genetic counseling. We demonstrated that WES is an efficient and cost-effective tool for molecular diagnosis for a type II collagenopathy. PMID:26985960

  7. Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey.

    PubMed

    Andersen, P E; Hauge, M

    1989-01-01

    The point prevalence at birth of generalised bone dysplasias was estimated by a study of all children born between 1 January 1970 and 31 December 1983 in the county of Fyn (Denmark). Additionally the population prevalence on 31 December 1983 of all patients with generalised bone dysplasias in this county was determined. The county is a well defined, representative subregion of Denmark which demographically comprises a cross section of about 9% of the Danish population. In total, bone dysplasias were found to be more frequent than generally assumed. Achondroplasia was, however, less common with a point prevalence at birth of 1.3 per 100,000, while osteogenesis imperfecta (21.8), multiple epiphyseal dysplasia tarda (9.0), achondrogenesis (6.4), osteopetrosis (5.1), and thanatophoric dysplasia (3.8) were found more frequently. It is striking how many bone dysplasias are still erroneously classified as achondroplasia. Correct diagnosis is important for a valid prognosis, for treatment, and for genetic counselling. The diagnosis relies almost exclusively on the radiographical findings. PMID:2783977

  8. Photodynamic therapy of dysplasia in Barrett's esophagus: an update

    NASA Astrophysics Data System (ADS)

    Panjehpour, Masoud; Overholt, Bergein F.

    1997-05-01

    Photodynamic therapy using Photofrin has been used as an alternative to esophagectomy for patients with dysplasia or superficial cancer associated with Barrett's esophagus. In this update we present the results in 71 patients treated and followed for 6-72 months. 54 patients had high grade dysplasia/early cancer, and 17 had low grade dysplasia. 22 Patients had early cancer and 1 had T2 cancer. Three separate PDT treatments were required in 3 patients, 2 in 20 patients and 1 in 48. All patients were maintained on omeprazole. Patients received a photofrin dose of 2 mg/kg followed two days later by 630 nm laser light from an either argon/dye laser or KTP/dye laser. The majority of patients received light from a balloon light delivery device. Dysplasia and carcinoma was eliminated or reduced in majority of the cases. 75-80 percent of Barrett's mucosa was replaced by squamous epithelium. 34 patients developed strictures. All responded well to dilation.

  9. 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

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

    PubMed

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

    2014-11-01

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

  11. Florid cemento-osseous dysplasia: a case report.

    PubMed

    Dağistan, Saadettin; Tozoğlu, Ummühan; Göregen, Mustafa; Cakur, Binali

    2007-09-01

    Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissues and involve, essentially, the same pathological process. They are usually classified, depending on their extent and radiographic appearances, into three main groups: periapical (surrounds the periapical region of teeth and are bilateral), florid (sclerotic symmetrical masses) and focal (single lesion) cemental dysplasias. Florid cemento-osseous dysplasia clearly appears to be a form of bone and cemental dysplasia that is limited to jaws. Patients do not have laboratory or radiologic evidence of bone disease in other parts of the skeleton. For the asymptomatic patient, the best management consists of regular recall examinations with prophylaxis and reinforcement of good home hygiene care to control periodontal disease and prevent tooth lose. Management of the symptomatic patient is more difficult. At this stage, there is an inflammatory component to the disease and the process is basically a chronic osteomyelitis involving dysplastic bone and cementum. Antibiotics may be indicated but may not be effective. A case of florid cemento-osseous dysplasia occurring in a 47-year-old Caucasian female is reported which was rare in regard to race and sex.

  12. 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.

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

    PubMed

    Halai, Tina; Stevens, Claire

    2015-10-01

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

  14. False Positive FDG PET/CT Resulting from Fibrous Dysplasia of the Bone in the Work-Up of a Patient with Bladder Cancer: Case Report and Review of the Literature.

    PubMed

    Aras, Mustafa; Ones, Tunc; Dane, Faysal; Nosheri, Omid; Inanir, Sabahat; Erdil, Tanju Yusuf; Turoglu, Halil Turgut

    2012-12-01

    Fibrous dysplasia of the bone (FDB) is a common, genetic, developmental disorder with a benign course. FDB can be seen anywhere throughout the skeleton. It is usually asymptomatic and found incidentally on imaging studies that are performed for other purposes. Although whole body 18 F-flourodeoxyglucose PET/CT (FDG PET/CT) is widely used in tumor imaging, infections and benign pathologies like FDB may cause false positive results. Herein we report the case of a 48-year-old FDB patient with transitional cell carcinoma of the urinary bladder. Restaging FDG PET/CT showed multiple mild to moderate hypermetabolic bone lesions which were initially misinterpreted as bone metastases. In this case report, we aimed to guide physicians in evaluating bone lesions in cancer patients with FDB in the light of the literature.

  15. 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 ...

  16. Genetics Home Reference: frontometaphyseal dysplasia

    MedlinePlus

    ... bowed limbs, an abnormal curvature of the spine ( scoliosis ), and abnormalities of the fingers and hands. Characteristic ... and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. Am J Med Genet A. ...

  17. Genetics Home Reference: metatropic dysplasia

    MedlinePlus

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

  18. Genetics Home Reference: campomelic dysplasia

    MedlinePlus

    ... a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. ... those that are important for development of the skeleton and reproductive organs. Most cases of campomelic dysplasia ...

  19. 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 ...

  20. Genetics Home Reference: craniometaphyseal dysplasia

    MedlinePlus

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

  1. Genetics Home Reference: frontonasal dysplasia

    MedlinePlus

    ... Testing Registry: Frontonasal dysplasia 3 KidsHealth from Nemours: Cleft Lip and Palate MedlinePlus Encyclopedia: Head and Face Reconstruction ... Centers for Disease Control and Prevention: Facts about Cleft Lip and Cleft Palate Centers for Disease Control and ...

  2. [Polyostotic fibrous dysplasia. A clinical case report].

    PubMed

    Gallesio, C; Tagliabue, M; Mazzeo, R; De Gioanni, P P

    1996-11-01

    The authors present a severe case of polyostotic fibrous dysplasia in which there was considerable involvement of cranial bone and facial skeleton. Numerous lesions were present at the level of the long bones of limbs. Endocrine dysfunction was also present in the form of a hypophyseal adenoma secreting prolactin and ACTH. The concomitance of acromegaly or gigantism and/or hyperprolactinemia and polyostotic fibrous dysplasia has only been reported to date in a few cases in literature. The authors describe the appearance of the subject, correlating clinical photographs with X-rays. They report the clinical excursus of the patient characterised by the gradual increase in deformities which seriously jeopardized the patient's relational life, in particular the appearance of a bulk on the forehead and checks and the deformation of the symphyseal portion of the mandible with presence of interdental diastemata. The patient also complained diplopia, difficulty in chewing owing to the mobilisation of teeth, and increasing bone pain probably due to nerve compression by exuberant bone. It was not possible to perform corrective surgery owing to the patient's overall poor health conditions. In fact, dilatative cardiomyopathy which continued to worsen in spite of numerous forms of medical treatment resulted in the patient's death owing to cardiac decompensation. Even the attempt to treat the patient's primary endocrine dysfunction using bromocryptine and subsequently octreotide failed to produce positive results owing to the onset of collateral effects which led to the early suspension of treatment.

  3. Craniofacial fibrous dysplasia: Surgery and literature review

    PubMed Central

    Menon, Suresh; Venkatswamy, Srihari; Ramu, Veena; Banu, Khurshida; Ehtaih, Sham; Kashyap, Vinay M.

    2013-01-01

    Objective: To highlight the clinical and radiologic features and management of craniofacial fibrous dysplasia with review of literature. Materials and Methods: A retrospective review of 6 patients who underwent surgical treatment in a tertiary healthcare centre was done using the parameters of patients' details, clinical features, radiological findings, management and postoperative review. Results: Of the six patients, 3 females and 2 males were in the 2nd decade of life and 1 male in the 1st decade of life. The disease was restricted to maxilla in 3 patients, involved the temporal and frontal bones in addition to maxilla in one, involved the frontal bone in one patient and involved frontal and parietal bones in one patient. The primary reason for seeking treatment in all the 6 cases was facial deformity. There was absence of pain in all 6 cases. For surgical treatment in all three cases involving the maxilla, the approach was intraoral while bicoronal approach was used for the other three cases. Treatment consisted of surgical contouring and reshaping the area. All cases were followed up over a period of 2 years with no signs of recurrence. Conclusion: Treatment of craniofacial fibro-osseous lesions is highly individualized. Most cases of craniofacial fibrous dysplasia manifest as swellings that cause facial deformity and surgical recontouring after cessation of growth seems to provide the best results. PMID:23662263

  4. [Polyostotic fibrous dysplasia. A clinical case report].

    PubMed

    Gallesio, C; Tagliabue, M; Mazzeo, R; De Gioanni, P P

    1996-11-01

    The authors present a severe case of polyostotic fibrous dysplasia in which there was considerable involvement of cranial bone and facial skeleton. Numerous lesions were present at the level of the long bones of limbs. Endocrine dysfunction was also present in the form of a hypophyseal adenoma secreting prolactin and ACTH. The concomitance of acromegaly or gigantism and/or hyperprolactinemia and polyostotic fibrous dysplasia has only been reported to date in a few cases in literature. The authors describe the appearance of the subject, correlating clinical photographs with X-rays. They report the clinical excursus of the patient characterised by the gradual increase in deformities which seriously jeopardized the patient's relational life, in particular the appearance of a bulk on the forehead and checks and the deformation of the symphyseal portion of the mandible with presence of interdental diastemata. The patient also complained diplopia, difficulty in chewing owing to the mobilisation of teeth, and increasing bone pain probably due to nerve compression by exuberant bone. It was not possible to perform corrective surgery owing to the patient's overall poor health conditions. In fact, dilatative cardiomyopathy which continued to worsen in spite of numerous forms of medical treatment resulted in the patient's death owing to cardiac decompensation. Even the attempt to treat the patient's primary endocrine dysfunction using bromocryptine and subsequently octreotide failed to produce positive results owing to the onset of collateral effects which led to the early suspension of treatment. PMID:9026699

  5. Pulmonary Biomarkers of Bronchopulmonary Dysplasia

    PubMed Central

    Thompson, Alecia; Bhandari, Vineet

    2008-01-01

    Bronchopulmonary dysplasia, or BPD, is a chronic pulmonary disorder of premature infants, commonly defined as having an oxygen requirement at 36 weeks postmenstrual age. It is an important source of morbidity and mortality in premature neonates. Its’ etiology appears to be multifactorial with the most common associations being prematurity, need for mechanical ventilation, and oxygen exposure. Implied in the pathogenesis of BPD is the role of cytokines which are immune mediators produced by most cell types. This is evidenced by studies in which there exist alterations in the levels of “pro-inflammatory” and “anti-inflammatory” cytokines. The imbalance of these cytokines have either heralded the onset or predicted the presence of BPD, or indicated a decreased propensity to developing this chronic respiratory disorder of preterm infants. Many other pulmonary markers have been shown to be altered in patients with BPD. These include markers indicative of altered lung repair processes, decreased endothelial integrity, oxidative damage and abnormal fibrinolytic activity, all of which are thought to be mechanisms contributing to the development of BPD. In this review, we will discuss the physiologic role of specific biomarkers in the pulmonary tract of the human premature neonate, the perturbations that enable them to be deranged, and their proposed association with BPD. PMID:19430584

  6. Intestinal epithelial dysplasia (tufting enteropathy).

    PubMed

    Goulet, Olivier; Salomon, Julie; Ruemmele, Frank; de Serres, Natacha Patey-Mariaud; Brousse, Nicole

    2007-01-01

    Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. To date, no epidemiological data are available, however, the prevalence can be estimated at around 1/50,000-100,000 live births in Western Europe. The prevalence seems higher in areas with high degree of consanguinity and in patients of Arabic origin. Infants develop within the first days after birth a watery diarrhea persistent in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal rectal or esophageal atresia. IED is thought to be related to abnormal enterocytes development and/or differentiation. Nonspecific punctuated keratitis was reported in more than 60% of patients. Histology shows various degree of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium with disorganization of surface enterocytes with focal crowding, resembling tufts. Several associated specific features were reported, including abnormal deposition of laminin and heparan sulfate proteoglycan (HSPG) in the basement membrane, increased expression of desmoglein and ultrastructural changes in the desmosomes, and abnormal distribution of alpha2beta1 integrin adhesion molecules. One model of transgenic mice in which the gene encoding the transcription factor Elf3 is disrupted have morphologic features resembling IED. Parental consanguinity and/or affected siblings suggest an autosomal recessive transmission but the causative gene(s) have not been yet identified making prenatal diagnosis unavailable. Some infants have a milder phenotype than others but in most patients, the severity of the intestinal malabsorption even with enteral feeding make them totally dependent on daily long-term parenteral nutrition with a subsequent risk of complications

  7. Clinical features of multiple epiphyseal dysplasia expressed in the knee.

    PubMed

    Miura, H; Noguchi, Y; Mitsuyasu, H; Nagamine, R; Urabe, K; Matsuda, S; Iwamoto, Y

    2000-11-01

    The purpose of this study is to clarify the clinical features of the knee affected by multiple epiphyseal dysplasia. Thirty-one cases of multiple epiphyseal dysplasia were reviewed. Of the patients, 11 were male and 20 were female. The average age at onset of symptoms was 22.5 years. The average age at initial visit to the authors' hospital was 28.9 years. Radiographic findings showed epiphyseal abnormality of the knee in all but two (93%) cases. Irregularity, segmentation of the epiphysis, widening of the joint space, and genu valgum deformity were the dominant findings before epiphyseal closure. After epiphyseal closure, the most characteristic finding was a shallow femoral trochlear groove, which was observed in 56.5% of the cases. Other findings in adult patients included early onset osteoarthritic change, genu valgum, depression of the lateral tibial plateau, and multiple free bodies. However, there still is a possibility that multiple epiphyseal dysplasia exists, even if the patient lacks a shallow femoral trochlear groove. If genu valgum or varum, free bodies, and premature osteoarthritis are observed, one should evaluate other joints, keeping a diagnosis of multiple epiphyseal dysplasia in mind. Patients with knees that have a femoral trochlear groove of normal or near normal shape do exist, and premature osteoarthritic changes may develop in such patients. PMID:11064990

  8. Epithelial dysplasia of the oral cavity and lips.

    PubMed

    Kaugars, G E; Burns, J C; Gunsolley, J C

    1988-11-15

    Between 1970 and 1986, 1651 biopsy specimens from the oral cavity or lips with a diagnosis of epithelial dysplasia were accessioned by the Medical College of Virginia Oral Pathology Diagnostic Service (Richmond, VA). Of the four histologic grades of epithelial dysplasia (focal mild, mild, moderate, and severe), most of the cases were diagnosed as mild (54.1%) and the fewest (8.1%) were in the severe category. The overall mean age at time of diagnosis was 56.7 years. A predilection for occurrence in males was confirmed, but a lower than expected incidence in blacks was noted. The most common anatomic sites were the buccal mucosa, palate, and floor of mouth. The anatomic areas which were most likely to have a severe epithelial dysplasia were the ventral surface of the tongue and the lip. Patients with dysplasias in more than one site had a slightly higher probability of being diagnosed as either moderate or severe. The cases associated with lichen planus usually were found on the buccal mucosa and demonstrated a shift toward a milder degree of dysplasia. PMID:3179929

  9. Bilateral Staged Total Hip Replacement and the Natural Progress of an Untreated Case of Developmental Dysplasia (Dislocation) of the Hip: A Clinical Case Report by the Surgeon and the Patient.

    PubMed

    Honarpisheh, Hamid; Ghazavi, Mohammad Taghi

    2015-07-01

    The natural history of an untreated case of a Developmental Dysplasia (Dislocation) of the Hip (DDH) associated with multiple congenital abnormalities is reported in a 55-years-old man. The patient's complaints and the varieties of the typical manifestations emerged in other parts of the body throughout the life are reviewed and discussed as comorbidities of a dysplastic condition. Two-stage bilateral total hip replacement (THR) operations were performed at the age of 55. In addition, to relieve the pain, the walking disabilities were overcome, hence gaining normal walking in swing and stances. The leg length discrepancy was corrected by anatomically positioned prostheses, examined by the knee bending test and characterized and evidenced by radiological features and indices. PMID:26170527

  10. Photodynamic Therapy for Head and Neck Dysplasia and Cancer

    PubMed Central

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

    2009-01-01

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

  11. Ectodermal Dysplasia: A Genetic Review

    PubMed Central

    Prashanth, S

    2012-01-01

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

  12. Unusual manifestations of craniofacial fibrous dysplasia: clinical, endocrinological and computed tomographic features.

    PubMed

    Daly, B D; Chow, C C; Cockram, C S

    1994-01-01

    Clinical, endocrinological and computed tomographic features of three patients with unusual manifestations or complications of craniofacial involvement of fibrous dysplasia are presented. One patient with polyostotic fibrous dysplasia presented in late pregnancy with acute onset of bilateral optic nerve compression and blindness secondary to a rapidly expanding mass of fibrous dysplasia tissue involving the sphenoid, pituitary and optic chiasm regions. A second patient with polyostotic fibrous dysplasia developed thyrotoxicosis and probable gigantism/acromegaly in keeping with a rare form of McCune-Albright syndrome. Extensive bony distortion of the skull and facial bones by fibrous dysplasia made clinical recognition of these complications more difficult. A third patient had monostotic fibrous dysplasia with marked sclerosis of the sphenoid bone on plain radiographs which mimicked appearances of a meningioma and resulted in a negative craniotomy as computed tomography was not yet available at the time of presentation. Each case demonstrated rare complications of craniofacial fibrous dysplasia and highlighted the wide spectrum of appearances in which it may manifest, often resulting in overlap and diagnostic confusion with other disease processes. The value of computed tomography in assessment is emphasized. PMID:8140010

  13. Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia).

    PubMed

    Pizio, H F; Scott, M H; Richard, J M

    1994-03-01

    Aarskog syndrome (faciogenital dysplasia) is a genetic growth disorder characterized by short stature, cryptorchidism, shawl scrotum, and dysmorphic facial features. Ophthalmic findings include hypertelorism, blepharoptosis, strabismus, and ophthalmoplegia. The authors report a patient with Aarskog syndrome and bilateral retinal vessel tortuosity. This is the first retinal anomaly associated with Aarskog syndrome.

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

    PubMed Central

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

    2015-01-01

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

  15. 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

  16. Avascular necrosis of the hip in multiple epiphyseal dysplasia

    SciTech Connect

    Mackenzie, W.G.; Bassett, G.S.; Mandell, G.A.; Scott, C.I. Jr. )

    1989-11-01

    We observed radiographic changes of avascular necrosis (AVN) of the capital femoral epiphysis in 9 hips of 11 patients with multiple epiphyseal dysplasia (MED). Plain roentgenography, bone scintigraphy, and magnetic resonance imaging (MRI) studies all revealed characteristic asymmetric changes in the presence of AVN superimposed on dysplastic femoral heads.

  17. 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. PMID:19560319

  18. Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type.

    PubMed

    Nair, Nikhil; Satapathy, Amit Kumar; Gupta, Neerja; Kabra, Madhulika; Gupta, Arun Kumar; Jana, Manisha

    2016-10-01

    Spondylometaphyseal dysplasia corner fracture type (Sutcliffe) is an uncommon form of skeletal dysplasia which has some unique imaging features. The differential diagnoses include other forms of spondylometaphyseal dysplasias and non-accidental injury. The case report describes a child with typical imaging findings of this clinical entity with a brief discussion of the diagnostic clue and differential diagnoses. PMID:27130511

  19. Ophthalmic and molecular genetic findings in Kniest dysplasia

    PubMed Central

    Sergouniotis, P I; Fincham, G S; McNinch, A M; Spickett, C; Poulson, A V; Richards, A J; Snead, M P

    2015-01-01

    Purpose To study the variability of the ophthalmic phenotype in Kniest dysplasia. Kniest dysplasia is an inherited disorder associated with defects in type II collagen and characterised by short-trunked dwarfism, kyphoscoliosis, and enlarged joints with restricted mobility. Other features include marked hand arthropathy, cleft palate, hearing loss, and ocular abnormalities (myopia, abnormal vitreous, and high risk of developing retinal detachment). Methods Data from eight unrelated individuals with a clinical and molecular diagnosis of Kniest dysplasia are reported. Clinical assessment included an audiogram and ophthalmological examination in all but one patient who died in the immediate postnatal period. Sanger sequencing of the COL2A1 gene was performed. Results Six of the seven patients tested were high myopes with one patient being an emmetrope. Bilateral quandratic cataracts and subluxed lenses were noted in one subject. Variable but abnormal vitreous architecture was observed in all seven individuals tested. Six of the seven patients had significant hearing impairment and five of the seven patients exhibited clefting abnormalities. One patient had bilateral retinal detachments in his twenties. Six dominant disease-causing COL2A1 variants were detected. In three cases, testing of parental samples revealed that the disease-causing variant was not present in either parent. Conclusion The ophthalmic features in Kniest dysplasia are very similar to those in other disorders of type II collagen such as Stickler syndrome. It is likely that different type II collagenopathies have a similar level of ocular morbidity and regular ophthalmologic examination is recommended. Kniest dysplasia is associated with heterozygous COL2A1 mutations that are frequently de novo. PMID:25592122

  20. Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report.

    PubMed

    Kim, Jeong-Hee; Song, Byeong-Chul; Kim, Sun-Ho; Park, Yang-Soon

    2011-09-01

    Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.

  1. Overdiagnosis of high-grade dysplasia in Barrett's esophagus: a multicenter, international study.

    PubMed

    Sangle, Nikhil A; Taylor, Shari L; Emond, Mary J; Depot, Michelle; Overholt, Bergein F; Bronner, Mary P

    2015-06-01

    Numerous histological mimics of high-grade dysplasia in Barrett's esophagus predispose to overdiagnosis and potential serious mismanagement, including unnecessary esophagectomy. This study investigates the prevalence and sources of this problem. Biopsies from 485 patients diagnosed with Barrett's high-grade dysplasia were screened for a multi-institutional, international Barrett's endoscopic ablation trial. Screening included review of the original diagnostic slides and an additional protocol endoscopy with an extensive biopsy sampling. Observer variability by the study pathologists was assessed through two blinded diagnostic rounds on 437 biopsies from 26 random study endoscopies. Study diagnostic reassessments revealed significantly lower rates of high-grade dysplasia. Only 248 patients (51%) were confirmed to have high-grade dysplasia. The remaining patients had inflamed gastric cardia without Barrett's (n=18; 7%), Barrett's without dysplasia (n=35; 15%), indefinite change (n=61; 26%), low-grade dysplasia (n=79; 33%), adenocarcinoma (n=43; 18%), and other (n=1; <1%), yielding an alarming total of 194 or 40% of patients who were overdiagnosed with Barrett's high-grade dysplasia. Study pathologists achieved a high-level agreement (90% three-way inter-observer agreement per biopsy, Kappa value 0.77) for high-grade dysplasia. Confounding factors promoting overdiagnosis included Barrett's inflammatory atypia (n=182), atypia limited to the basal metaplastic glands (n=147), imprecise criteria for low grade neoplasia (n=102), tangential sectioning artifact (n=59), and reactive gastric cardiac mucosa (n=38). A total of 194 patients (40%) were overdiagnosed with Barrett's high-grade dysplasia, as affirmed by the extensive screening process and high-level study pathologist agreement. The multiple diagnostic pitfalls uncovered should help raise pathologists' awareness of this problem and improve diagnostic accuracy.

  2. Epithelial Dysplasia in Oral Cavity

    PubMed Central

    Shirani, Samaneh; Kargahi, Neda; Razavi, Sayed Mohammad; Homayoni, Solmaz

    2014-01-01

    Among oral lesions, we encounter a series of malignant epithelial lesions that go through clinical and histopathologic processes in order to be diagnosed. Identifying these processes along with the etiology knowledge of these lesions is very important in prevention and early treatments. Dysplasia is the step preceding the formation of squamous cell carcinoma in lesions which have the potential to undergo dysplasia. Identification of etiological factors, clinical and histopathologic methods has been the topic of many articles. This article, reviews various articles presenting oral cavity dysplasia, new clinical methods of identifying lesions, and the immunohistochemical research which proposes various markers for providing more precise identification of such lesions. This article also briefly analyzes new treatment methods such as tissue engineering. PMID:25242838

  3. Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.

    PubMed

    Polat, Ayşe İpek; Yiş, Uluç; Ayanoğlu, Müge; Hız, Ayşe Semra; Güleryüz, Handan; Öztürk Atasoy, Tülay; Boerkoel, Cornelius F

    2015-01-01

    Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). SMARCAL1 product is a helicase that has role in selective cellular proliferation. The disorder is characterized by spondyloepiphyseal dysplasia with short stature, nephropathy, T cell deficiency, neurologic and cutaneous signs. Patients may have hyperpigmented skin lesions similar to café au lait spots. Symptoms and disease severity in Schimke immuno-osseous dysplasia varies from patient to patient. Genetic, epigenetic and environmental factors play role on the severity of the disease. Here we report on a patient with short stature, steroid resistant nephrotic syndrome and recurrent infections. Cutaneous findings and developmental delay helped us to reach the diagnosis of Schimke immuno-osseous dysplasia. A homozygous missense mutation in SMARCAL1 gene confirmed the clinical diagnosis. PMID:27411420

  4. [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.

  5. 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.

  6. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

    PubMed

    Dwyer, Ellen; Hyland, James; Modaff, Peggy; Pauli, Richard M

    2010-12-01

    Mutations in diastrophic dysplasia sulfate transporter (DTDST) cause a spectrum of autosomal recessive chondrodysplasias. In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesis type II (AO2), diastrophic dysplasia (DTD), diastrophic dysplasia variant (DTDv), and recessively inherited multiple epiphyseal dysplasia (rMED). This is the first report of an extended family with unequivocally distinct phenotypes on the DTDST spectrum. Two siblings have DTDv and their first cousin had AO2. They all share the common Finnish mutation (IVS1 + 2C>T). The two patients with DTDv have the previously reported R279W extracellular domain missense mutation. The second mutation in the patient with AO2 is c.172delA, a deletion of one nucleotide causing a previously unreported frameshift mutation. This is the first published case of an individual with a frameshift mutation combined with the Finnish mutation. These three patients provide an opportunity, in concert with a review of previous literature, to further examine the genotype-phenotype correlation of DTDST. Analysis suggests that, while the DTDST family of disorders contains at least seven different conditions, mutations in the DTDST gene, in fact, appear to cause a phenotypic continuum. Furthermore, DTDST genotype alone is an imperfect predictor of clinical severity along this continuum. PMID:21077202

  7. 7 tesla T2*-weighted MRI as a tool to improve detection of focal cortical dysplasia.

    PubMed

    Veersema, Tim J; van Eijsden, Pieter; Gosselaar, Peter H; Hendrikse, Jeroen; Zwanenburg, Jaco J M; Spliet, Wim G M; Aronica, Eleonora; Braun, Kees P J; Ferrier, Cyrille H

    2016-09-01

    Focal cortical dysplasia is one of the most common underlying pathologies in patients who undergo surgery for refractory epilepsy. Absence of a MRI-visible lesion necessitates additional diagnostic tests and is a predictor of poor surgical outcome. We describe a series of six patients with refractory epilepsy due to histopathologically-confirmed focal cortical dysplasia, for whom pre-surgical 7 tesla T2*-weighted MRI was acquired. In four of six patients, T2* sequences showed areas of marked superficial hypointensity, co-localizing with the epileptogenic lesion. 7 tesla T2* hypointensities overlying focal cortical dysplasia may represent leptomeningeal venous vascular abnormalities associated with the underlying dysplastic cortex. Adding T2* sequences to the MRI protocol may aid in the detection of focal cortical dysplasias.

  8. 7 tesla T2*-weighted MRI as a tool to improve detection of focal cortical dysplasia.

    PubMed

    Veersema, Tim J; van Eijsden, Pieter; Gosselaar, Peter H; Hendrikse, Jeroen; Zwanenburg, Jaco J M; Spliet, Wim G M; Aronica, Eleonora; Braun, Kees P J; Ferrier, Cyrille H

    2016-09-01

    Focal cortical dysplasia is one of the most common underlying pathologies in patients who undergo surgery for refractory epilepsy. Absence of a MRI-visible lesion necessitates additional diagnostic tests and is a predictor of poor surgical outcome. We describe a series of six patients with refractory epilepsy due to histopathologically-confirmed focal cortical dysplasia, for whom pre-surgical 7 tesla T2*-weighted MRI was acquired. In four of six patients, T2* sequences showed areas of marked superficial hypointensity, co-localizing with the epileptogenic lesion. 7 tesla T2* hypointensities overlying focal cortical dysplasia may represent leptomeningeal venous vascular abnormalities associated with the underlying dysplastic cortex. Adding T2* sequences to the MRI protocol may aid in the detection of focal cortical dysplasias. PMID:27435411

  9. Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis.

    PubMed

    Singh, Sumit; Qin, Curtis; Medarametla, Srikanth; Hegde, Shilpa V

    2016-09-01

    We report a 14-month-old male with craniometaphyseal dysplasia (CMD). The patient presented with a history of diminishing vision and hearing loss. Cranial computed tomography scan showed diffuse calvarial and skull base hyperostosis with excessive bone narrowing the internal auditory canals and skull base foramina. A subsequent skeletal survey revealed other skeletal abnormalities, which led to the diagnosis of CMD. This was later confirmed by ANKH mutation. CMD is a rare genetic disorder that belongs to the group of craniotubular bone dysplasias. It is important to recognize this condition from other causes of craniotubular bone dysplasias to institute early treatment and explain prognosis. PMID:27594963

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

    PubMed

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

    2014-09-01

    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

  11. Acute myeloid leukemia with multilineage dysplasia in children.

    PubMed

    Adachi, Souichi; Manabe, Atsushi; Imaizumi, Masue; Taga, Takashi; Tawa, Akio; Tsurusawa, Masahito; Kikuchi, Akira; Masunaga, Atsuko; Tsuchida, Masahiro; Nakahata, Tatsutoshi

    2007-11-01

    We retrospectively surveyed pediatric acute myeloid leukemia (AML) patients with multilineage dysplasia treated with the AML 99 and the Children's Cancer and Leukemia Study Group (CCLSG) AML 9805 protocols. We found only 9 AML patients (2.6%) with multilineage dysplasia among the 341 patients with newly diagnosed de novo AML. Eight of the 9 patients obtained complete remission (CR) following the intensive AML-oriented treatments. Three of 7 patients who underwent stem cell transplantation were alive in CR for more than 4 years, and the 2 patients treated only with chemotherapy were alive in CR for more than 30 months. We did not identify any particular chromosomal abnormalities or differentiation according to the French-American-British classification in these 9 patients. No reports have described AML with multilineage dysplasia in children, and the incidence of the disease is expected to be very low. We plan to conduct a prospective pathologic review to select cases with this disease entity in the next Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG) AML-05 protocol.

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

    PubMed

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

    1997-07-11

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

  13. Clinical significance and management of Barrett's esophagus with epithelial changes indefinite for dysplasia.

    PubMed

    Thota, Prashanthi N; Kistangari, Gaurav; Esnakula, Ashwini K; Gonzalo, David Hernandez; Liu, Xiu-Li

    2016-08-01

    Barrett's esophagus (BE) is defined as the extension of salmon-colored mucosa into the tubular esophagus ≥ 1 cm proximal to the gastroesophageal junction with biopsy confirmation of intestinal metaplasia. Patients with BE are at increased risk of esophageal adenocarcinoma (EAC), and undergo endoscopic surveillance biopsies to detect dysplasia or early EAC. Dysplasia in BE is classified as no dysplasia, indefinite for dysplasia (IND), low grade dysplasia (LGD) or high grade dysplasia (HGD). Biopsies are diagnosed as IND when the epithelial abnormalities are not sufficient to diagnose dysplasia or the nature of the epithelial abnormalities is uncertain due to inflammation or technical issues. Specific diagnostic criteria for IND are not well established and its clinical significance and management has not been well studied. Previous studies have focused on HGD in BE and led to changes and improvement in the management of BE with HGD and early EAC. Only recently, IND and LGD in BE have become focus of intense study. This review summarizes the definition, neoplastic risk and clinical management of BE IND. PMID:27602241

  14. Clinical significance and management of Barrett’s esophagus with epithelial changes indefinite for dysplasia

    PubMed Central

    Thota, Prashanthi N; Kistangari, Gaurav; Esnakula, Ashwini K; Gonzalo, David Hernandez; Liu, Xiu-Li

    2016-01-01

    Barrett’s esophagus (BE) is defined as the extension of salmon-colored mucosa into the tubular esophagus ≥ 1 cm proximal to the gastroesophageal junction with biopsy confirmation of intestinal metaplasia. Patients with BE are at increased risk of esophageal adenocarcinoma (EAC), and undergo endoscopic surveillance biopsies to detect dysplasia or early EAC. Dysplasia in BE is classified as no dysplasia, indefinite for dysplasia (IND), low grade dysplasia (LGD) or high grade dysplasia (HGD). Biopsies are diagnosed as IND when the epithelial abnormalities are not sufficient to diagnose dysplasia or the nature of the epithelial abnormalities is uncertain due to inflammation or technical issues. Specific diagnostic criteria for IND are not well established and its clinical significance and management has not been well studied. Previous studies have focused on HGD in BE and led to changes and improvement in the management of BE with HGD and early EAC. Only recently, IND and LGD in BE have become focus of intense study. This review summarizes the definition, neoplastic risk and clinical management of BE IND. PMID:27602241

  15. 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

  16. Computed tomography and bone scintigraphy is polyostotic fibrous dysplasia. Report of a case. [Tc 99m

    SciTech Connect

    Higashi, T.; Iguchi, M.; Shimura, A.; Kruglik, G.D.

    1980-12-01

    A case of polyostotic fibrous dysplasia is presented in which the extent of bony lesions was defined on the results of the CT scan and bone scan with 99m Tc polyphosphate in addition to conventional radiography. These diagnostic procedures appear to be of considerable value in defining the extent of a variety of oral-maxillofacial bony lesions. This report describes the comparative findings from 99m Tc polyphosphate bone imaging and computed tomography (CT) in one patient with polyostotic fibrous dysplasia.

  17. 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

  18. Oculomotor-corpus callosum dysplasia.

    PubMed

    Acers, T E; Blackwell, C

    1982-01-01

    An infant with congenital bilateral ophthalmoplegia with levator and pupillary sparing is presented. The eyes are fixed in a divergent position with no apparent motility. The baby is otherwise clinically normal and is developing in a normal fashion except for delayed growth pattern. Visual attention is present and he fixates with either eye. Computed tomography demonstrates an associated dysplasia of the corpus callosum and an abnormal ventricular system. Neuroendocrine studies performed at one year of age demonstrate subnormal levels of growth hormone. It is postulated that this represents an embryodysgenesis involving the developing mesencephalic tegmentum (oculomotor nuclei) and the diencephalic lamina reuniens (corpus callosum). It is the first reported case of congenital ophthalmoplegia with corpus callosum dysplasia. The "embryodysgenic" relationship with other forebrain-ocular anomalies has been alluded to and remains speculative. PMID:7182958

  19. Mechanical Ventilation and Bronchopulmonary Dysplasia.

    PubMed

    Keszler, Martin; Sant'Anna, Guilherme

    2015-12-01

    Mechanical ventilation is an important potentially modifiable risk factor for the development of bronchopulmonary dysplasia. Effective use of noninvasive respiratory support reduces the risk of lung injury. Lung volume recruitment and avoidance of excessive tidal volume are key elements of lung-protective ventilation strategies. Avoidance of oxidative stress, less invasive methods of surfactant administration, and high-frequency ventilation are also important factors in lung injury prevention. PMID:26593078

  20. 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.

  1. 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

  2. Thanatophoric Dysplasia: A Case Report.

    PubMed

    Sharma, Manisha; Jyoti; Jain, Rekha; Devendra

    2015-11-01

    Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes. They can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of pre term fresh stillborn baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, narrow thorax and protuberant abdomen which delivered at our hospital. The ultrasound examination showed shortening of long bones with femur shaped like telephone receiver. Dysmorphic facial features and skeletal abnormalities in the baby lead us to make the diagnosis of TD type I. Because of the rarity of this condition we report this case of thanatophoric dysplasia with a short review of literature. PMID:26675119

  3. Genetics of human isolated acromesomelic dysplasia.

    PubMed

    Khan, Saadullah; Basit, Sulman; Khan, Muzammil Ahmad; Muhammad, Noor; Ahmad, Wasim

    2016-04-01

    Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. It occurs in both isolated (non-syndromic) and syndromic forms. In later case, it shows association with cardiac, respiratory, neurological and genital abnormalities. Acromesomelic dysplasia segregates in autosomal recessive mode. Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to cause different forms of acromesomelic dysplasia. In the present review, we have discussed clinical spectrum, genetics and signalopathies of isolated acromesomelic dysplasias. PMID:26926249

  4. Genetics of human isolated acromesomelic dysplasia.

    PubMed

    Khan, Saadullah; Basit, Sulman; Khan, Muzammil Ahmad; Muhammad, Noor; Ahmad, Wasim

    2016-04-01

    Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. It occurs in both isolated (non-syndromic) and syndromic forms. In later case, it shows association with cardiac, respiratory, neurological and genital abnormalities. Acromesomelic dysplasia segregates in autosomal recessive mode. Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to cause different forms of acromesomelic dysplasia. In the present review, we have discussed clinical spectrum, genetics and signalopathies of isolated acromesomelic dysplasias.

  5. 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

  6. Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia1

    PubMed Central

    Indik, Julia H; Marcus, Frank I

    2003-01-01

    Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by the patchy replacement of myocardium by fatty or fibrofatty tissue. These changes lead to structural abnormalities including right ventricular enlargement and wall motion abnormalities that can be detected by echocardiography, angiography, and cine MRI. ARVC/D is a genetically heterogeneous disorder, since it has been linked to several chromosomal loci. Myocarditis may also be a contributing etiological factor. Patients are typically diagnosed during adolescence or young adulthood. Presenting symptoms are generally related to ventricular arrhythmias. Concern for the risk of sudden cardiac death may lead to the implantation of an intracardiac defibrillator. An ongoing multicenter international registry should further our understanding of this disease. PMID:16943913

  7. Emerging targeted drug therapies in skeletal dysplasias.

    PubMed

    Yap, Patrick; Savarirayan, Ravi

    2016-10-01

    Quantum advances have occurred in the field of human genetics in the six decades since Watson and Crick expressed their "wish to suggest a structure for the salt of deoxyribose nucleic acid." These culminated with the human genome project, which has opened up myriad possibilities, including that of individualized genetic medicine, the ability to deliver medical advice, management, and therapy tailored to an individual's genetic blueprint. Advances in genetic diagnostic capabilities have been rapid, to the point where the genome can be sequenced for several thousand dollars. Crucially, it has facilitated the identification of targets for "precision" treatments to combat genetic diseases at their source. This manuscript will review the innovative, pathogenesis-based therapies that are revolutionizing management of skeletal dysplasias, giving patients and families new options and outcomes. © 2016 Wiley Periodicals, Inc. PMID:27155200

  8. Guidelines for genetic skeletal dysplasias for pediatricians.

    PubMed

    Cho, Sung Yoon; Jin, Dong-Kyu

    2015-12-01

    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

  9. Focal cemento-osseous dysplasia of mandible.

    PubMed

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

    2012-09-03

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

  10. Mondini dysplasia as a cause for recurrent bacterial meningitis: an early diagnosis.

    PubMed

    Anandi, Shobi; Tullu, Milind S; Bhatia, Sonal; Agrawal, Mukesh

    2012-08-01

    Mondini dysplasia is a rare but an important cause for recurrent pyogenic meningitis in children and requires a high index of clinical suspicion for early diagnosis. We present the case of a 7-year-old boy, who presented with 2 episodes of pyogenic meningitis within a span of 1 month. There was no obvious history of hearing abnormalities, but pure tone audiometry suggested profound mixed hearing loss in the left ear. High-resolution computed tomographic scan and magnetic resonance imaging of temporal bones confirmed the diagnosis of Mondini dysplasia in the left ear. Computed tomographic cisternography failed to demonstrate any obvious cerebrospinal fluid leak. The child was managed conservatively and has been asymptomatic since then. Thus, in our patient, Mondini dysplasia as a cause for recurrent pyogenic meningitis was diagnosed (early) during the second episode of meningitis. The need for an early diagnosis of Mondini dysplasia has been stressed in this report. PMID:22290862

  11. 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

  12. Kniest dysplasia: MR correlation of histologic and radiographic peculiarities.

    PubMed

    Dwek, Jerry R

    2005-02-01

    Unossified epiphyses of Kniest dysplasia patients histologically reveal a bizarre pattern of chondrocytes lying amid a highly vacuolated matrix giving rise to the name "Swiss cheese" cartilage. The ossified epiphyses also are unusual in showing clouds of dense punctate calcifications randomly distributed throughout. Both unossified and ossified epiphyses reveal on MR imaging a similar pattern of lakes of bright T2 signal against a relatively normal background, which represents an interesting analogue to the histologic and radiographic features.

  13. Possible relationship of primary hyperparathyroidism and fibrous dysplasia: report of case.

    PubMed

    Caudill, R; Saltzman, D; Gaum, S; Granite, E

    1977-06-01

    This report has considered the possibility that the described patient had a maxillary and possibly a mandibular fibrous dysplasia concomitant with a parathyroid abnormality. It has attempted to arouse the diagnostician's suspicion of possible interrelations of fibrous dysplasia and endocrine abnormalities, and to strengthen the hypothesis of others that association of fibrous dysplasia and hyperparathyroidism is not coincidental. Clinical, radiographic, and laboratory examinations more than a year postoperatively further substantiate our hypothesis that the patient had a facial fibrous dysplasia concomitant with primary hyperparathyroidism. The maxilla and mandible continued to enlarge clinically. Systemic manifestations of hyperparathyroidism had resolved. Calcium phosphorus, and parathyroid hormone levels returned to normal limits. Radiographically, there had been remodeling and recalcification of all involved bones except the maxilla and mandible which continued to expand. A possible explanation is that the maxillofacial lesions represent the polyostotic fibrous dysplasia component of the Albright syndrome. The endocrine abnormality could be manifested by the hyperparathyroidism. The third component of Albright syndrome, café au lait lesions, has not been identified. The potential interrelation of fibrous dysplasia with endocrine abnormalities is obviously important from a diagnostic and therapeutic standpoint. If there is more than a coincidental relationship-hereditary, hormonal, neurological, developmental, or any as-yet-unknown factor-only further research and studies will confirm or disprove it.

  14. Detection of microsatellite instability in gastric cancer and dysplasia tissues

    PubMed Central

    Li, Bing; Liu, Hong-Yi; Guo, Shao-Hua; Sun, Peng; Gong, Fang-Ming; Jia, Bao-Qing

    2015-01-01

    Objective: We aimed to investigate the association between gastric cancer and microsatellite instability (MSI) in the present study. Method: Phenol-chloroform method was employed for DNA extraction from the cancer tissues of 65gastric cancer patients and the dysplasia tissues and normal control tissues of 32 non-gastric cancer patients. The microsatellite loci Bat25, Bat26, D2S123, D5S346 and D17S250 were detected by using PCR-SSCP silver staining technique, and the MSI of the gastric cancer tissues and the precancerous tissues was analyzed. Results: Of 65 gastric cancer cases, MSI was detected in 43 cases, with the detection rate of 66.2%. There were 13 cases showing MSI-H and 30 cases showing MSI-L, accounting for 30.2% and 69.8%, respectively. Among 32 cases of dysplasia tissues, MSI was detected in 10 cases, with the detection rate of 31.3%. Two cases of dysplasia tissues showed MSI-H and 8 cases showed MSI-L, accounting for 20.0% and 80.0%, respectively. Conclusion: Gastric cancer patients had a high detection rate of MSI. It is speculated that MSI is another molecular mechanism of carcinogenesis and may serve as a sensitive diagnostic indicator of gastric cancer. PMID:26885089

  15. Ultrasound for Infants at Risk for Developmental Dysplasia of the Hip.

    PubMed

    LeBa, Thu-Ba; Carmichael, Kelly D; Patton, Andrew G; Morris, Randal P; Swischuk, Leonard E

    2015-08-01

    The best screening method for developmental dysplasia of the hip is controversial. Ultrasonography is sensitive, but cost-effectiveness may limit its use. This study assessed whether ultrasound screening would increase in effectiveness if targeted toward infants with established risk factors for developmental dysplasia of the hip and normal findings on physical examination. All ultrasound scans performed at the authors' institution from January 2007 through January 2011 to screen for developmental dysplasia of the hip were reviewed. Infants with risk factors for developmental dysplasia of the hip and normal findings on physical examination by orthopedic faculty or a pediatrician were selected. Of the 530 cases that were reviewed, 217 had risk factors for developmental dysplasia of the hip and normal findings on physical examination. Mean age of the 217 selected patients was 6.9 weeks. Of the patients, 83% were female, 77% had breech presentation, 30% were firstborn children, 13% had intrauterine packaging abnormalities, and 3% had a family history of developmental dysplasia of the hip. Of the 217 infants, 44 had 1 risk factor, 121 had 2 risk factors, 46 had 3 risk factors, and 6 had 4 risk factors. Dynamic ultrasound evaluation showed instability in 17 patients, for a 7.8% incidence of developmental dysplasia of the hip. All 17 patients were treated with a Pavlik harness. The results suggested that selective ultrasound screening may be effective in infants with risk factors and normal findings on physical examination. Selective ultrasound screening changed treatment management in almost 8% of patients and clinical follow-up in 6.5%. Analysis of the cost-effectiveness of screening is needed. PMID:26270760

  16. Florid cemento-osseous dysplasia.

    PubMed

    Das, Bijay Kumar; Das, Surya Narayan; Gupta, Aprna; Nayak, Suryakanti

    2013-01-01

    Floridcemento-osseous dysplasia (FCOD) is a"fibro-osseouslesion" that characteristically affects the jaw bones of the middle-aged with multi-quadrant radiopaque cementum-like masses. In thepast, the condition was known with a variety of names causing confusion in diagnosis and treatment. The condition is usually asymptomatic and needs no treatment as such. The diagnosis of FCOD is made on the basis of typical clinico-radiological features and biopsy is usually not recommended due to the risk of postoperative infection. This paper reports a rare case of FCOD affecting mandible bilaterally in a forty-two years old woman. PMID:23798858

  17. Florid cemento-osseous dysplasia.

    PubMed

    Das, Bijay Kumar; Das, Surya Narayan; Gupta, Aprna; Nayak, Suryakanti

    2013-01-01

    Floridcemento-osseous dysplasia (FCOD) is a"fibro-osseouslesion" that characteristically affects the jaw bones of the middle-aged with multi-quadrant radiopaque cementum-like masses. In thepast, the condition was known with a variety of names causing confusion in diagnosis and treatment. The condition is usually asymptomatic and needs no treatment as such. The diagnosis of FCOD is made on the basis of typical clinico-radiological features and biopsy is usually not recommended due to the risk of postoperative infection. This paper reports a rare case of FCOD affecting mandible bilaterally in a forty-two years old woman.

  18. 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

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

    PubMed

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

    2016-12-01

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

  20. 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.

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

    PubMed Central

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

    1998-01-01

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

  2. Developmental dysplasia of the hip: diagnosis and management to 18 months.

    PubMed

    Clarke, Nicholas M P

    2014-01-01

    Developmental dysplasia of the hip represents a spectrum of disease ranging from transient neonatal instability to established dislocation. It is accepted that female sex, breech presentation, and family history are risk factors for the disease. Early diagnosis by clinical examination or ultrasound imaging is emphasized, with splint treatment ideally commencing by 6 weeks of age. Treatment using the Pavlik harness is successful in up to 90% of patients. Ultrasound imaging is the gold standard for monitoring a patient during harness wear. Failed splintage or late presentation usually necessitates surgical intervention depending on the patient's age and the severity of the hip dysplasia and displacement. PMID:24720316

  3. 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

  4. Hip Arthroscopy in the Presence of Acetabular Dysplasia

    PubMed Central

    Jayasekera, Narlaka; Aprato, Alessandro; Villar, Richard N

    2015-01-01

    Purpose : Hip arthroscopy is a well established therapeutic intervention for an increasing number of painful hip conditions. Developmental dysplasia of the hip (DDH) is commonly associated with intra-articular hip pathology. However, some surgeons perceive patients with hip dysplasia as poor candidates for hip arthroscopy. Our aim was to describe early outcomes of arthroscopic treatment for patients with DDH, who also had femoroacetabular impingement (FAI) treated when necessary, and to compare these outcomes against a control group of patients without DDH. Methods : Prospective case-control study of 68 consecutive hip arthroscopy patients assessed with a modified Harris Hip Score (mHHS) preoperatively and at six weeks, six months, and one year after surgery. Presence of DDH was determined using a standard anteroposterior (AP) pelvic radiograph to measure the centre-edge angle (CEA) of Wiberg, with a CEA < 20º used as threshold for diagnosis of DDH. Results : 12 patients (eight female and four male) with acetabular dysplasia and mean CEA of 15.4º (9º to 19º). The control, nondysplastic group comprised 54 patients (23 females and 31 males) with a mean CEA of 33.1º (22º to 45º). All patients in the dysplastic group had a labral tear and 11 (91.7%) had associated femoral cam impingement lesion addressed at arthroscopy. Our study demonstrates a significant (p=0.02) improvement in outcome in the dysplastic group at one year using the mHHS. Conclusion : Hip arthroscopy in the presence of DDH is effective in relieving pain for at least one year after surgery although does not address underlying acetabular abnormality. PMID:26069512

  5. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

    PubMed

    Mäkitie, Outi; Savarirayan, Ravi; Bonafé, Luisa; Robertson, Stephen; Susic, Miki; Superti-Furga, Andrea; Cole, William G

    2003-10-15

    Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) and non-lethal conditions (diastrophic dysplasia and recessive multiple epiphyseal dysplasia (rMED)). The most frequent mutation is R279W, which in a homozygous state results in rMED with bilateral clubfoot, MED, and "double layered" patella. We describe three patients with rMED caused by a previously unreported homozygous mutation in the DTDST gene. The three patients (from two families) were born to healthy, non-consanguineous parents. All developed signs of hip dysplasia in early childhood and two had episodes of recurrent patella dislocation. Two underwent bilateral total hip replacements at ages 13 and 14 years. The feet, external ears, and palate were normal. Stature was normal in all cases. Radiographs showed dysplastic femoral heads, mild generalized epiphyseal dysplasia, abnormal patella ossification, and normal hands and feet. Direct sequence analysis of genomic DNA demonstrated a homozygous 1984T > A (C653S) change in the DTDST gene in all patients. The clinically normal parents were heterozygous for the change. This is the first description of a homozygous C653S mutation of the DTDST gene. Hip dysplasia and patella hypermobility dominates the otherwise mild phenotype. These patients further expand the range of causative mutations in the DTD skeletal dysplasia family. PMID:12966518

  6. Pycnodysostosis: A bone dysplasia with unusual oral manifestation.

    PubMed

    Balaji, M S Anandi; Sundaram, R Kanmani Shanmuga; Karthik, Poornima; Asokan, Kannan

    2014-10-01

    Pycnodysostosis, a sclerosing bone dysplasia, is a rare autosomal recessive disorder with an estimated prevalence rate of one in one million. Patients with pycnodyostosis usually have normal intelligence, sexual development and life span. This condition is characterized by increased bone density and fragility along with oral manifestations like malposition teeth, hypoplastic maxilla, receded chin and delayed eruption of permanent teeth with discharging sinuses in the jaws because of poor blood supply. This is one such rare case report of a 47-year-old patient presenting with a complaint of fractured jaw and reviewing the clinical and radiographic characteristics of pycnodysostosis. PMID:25565757

  7. Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family

    PubMed Central

    Chung, Sang Wan; Kang, Eun Ha; Lee, Yun Jong; Ha, You-Jung

    2016-01-01

    Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis. PMID:27401665

  8. Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family.

    PubMed

    Chung, Sang Wan; Kang, Eun Ha; Lee, Yun Jong; Ha, You Jung; Song, Yeong Wook

    2016-09-01

    Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis. PMID:27401665

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

    PubMed

    Zimmerman, Stefan L

    2015-02-01

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

  10. Pycnodysostosis: A bone dysplasia with unusual oral manifestation

    PubMed Central

    Balaji, M S Anandi; Sundaram, R Kanmani Shanmuga; Karthik, Poornima; Asokan, Kannan

    2014-01-01

    Pycnodysostosis, a sclerosing bone dysplasia, is a rare autosomal recessive disorder with an estimated prevalence rate of one in one million. Patients with pycnodyostosis usually have normal intelligence, sexual development and life span. This condition is characterized by increased bone density and fragility along with oral manifestations like malposition teeth, hypoplastic maxilla, receded chin and delayed eruption of permanent teeth with discharging sinuses in the jaws because of poor blood supply. This is one such rare case report of a 47-year-old patient presenting with a complaint of fractured jaw and reviewing the clinical and radiographic characteristics of pycnodysostosis. PMID:25565757

  11. [The role of connective tissue nonspecific dysplasia in postoperative and recurrent abdominal hernias formation].

    PubMed

    Akhmedov, N I

    2011-04-01

    There were studied the rate of clinical indices diagnosis concerning nondifferentiated form of connective tissue dysplasia (NFCTD) as well as their significance in postoperative and recurrent abdominal hernias formation in 61 patients, ageing 20 - 78 years. It was established, that in 77% of patients the hernia have had formated on a NFCTD background, including in 16.4%--with a mild degree, in 27.8%--moderate degree and in 32.8%--a severe one. The authors recommend while abdominal hernia is present to study a characteristic phenotypical signs of a connective tissue dysplasia and, if more than 4 signs are diagnosed, to prefer the application of alloplastic methods.

  12. Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

    PubMed

    Kilic, Sara Sebnem; Donmez, Osman; Sloan, Emily A; Elizondo, Leah I; Huang, Cheng; André, Jean-Luc; Bogdanovic, Radovan; Cockfield, Sandra; Cordeiro, Isabel; Deschenes, Georges; Fründ, Stefan; Kaitila, Ilkka; Lama, Giuliana; Lamfers, Petra; Lücke, Thomas; Milford, David V; Najera, Lydia; Rodrigo, Francisco; Saraiva, Jorge M; Schmidt, Beate; Smith, Graham C; Stajic, Nastasa; Stein, Anja; Taha, Doris; Wand, Dorothea; Armstrong, Dawna; Boerkoel, Cornelius F

    2005-06-01

    Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like headaches. Through a retrospective questionnaire-based study, we found that refractory and severely disabling migraine-like headaches occur in nearly half of SIOD patients. We have also found that the vasodilator minoxidil provided symptomatic relief for one patient. We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function. PMID:15884045

  13. 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 ...

  14. Genetics Home Reference: septo-optic dysplasia

    MedlinePlus

    ... Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition ... in the brain. In the early stages of brain development, these structures may form abnormally or fail to ...

  15. Birth prevalence rates of skeletal dysplasias.

    PubMed

    Stoll, C; Dott, B; Roth, M P; Alembik, Y

    1989-02-01

    This study establishes the prevalence rates at birth of the skeletal dysplasias which can be diagnosed in the perinatal period or during pregnancy. Using a population-based register of congenital anomalies, a prevalence rate of 3.22 0/000 was observed. The most frequent types of skeletal dysplasia were achondroplasia and osteogenesis imperfecta (0.64 0/000, 1/15,000 births), thanatophoric dysplasia and achondrogenesis (0.28 0/000). The mutation rate for achondroplasia was higher in our material than in the other studies: 3.3 x 10(-5) per gamete per generation. Our study demonstrates that prenatal diagnosis by ultrasound is possible in some skeletal dysplasias. PMID:2785882

  16. 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

    1996-08-01

    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. PMID:8702490

  17. Establishment of the Certification System "Gynaecological Dysplasia" in Germany.

    PubMed

    Beckmann, M W; Quaas, J; Bischofberger, A; Kämmerle, A; Lux, M P; Wesselmann, S

    2014-09-01

    Gynaecological cancer centres have been established nationwide in Germany since 2008 according to the certification system of the German Cancer Society (Deutsche Krebsgesellschaft e. V. [DKG]) and the German Society for Gynaecology and Obstetrics (Deutsche Gesellschaft für Gynäkologie und Geburtshilfe e. V. [DGGG]). However, patient access to the certified gynaecological cancer centres is currently only possible through direct referrals. A longitudinal structure with the corresponding long-term documentation of both the high-grade precursors as well as the cancers does not exist as yet. According to the aims of the National Cancer Plan, a corresponding structure for the cancer entity "cervix carcinoma" should be established. The foundations for such a structure are appropriate diagnostic units that are responsible, after nationwide screening, for clarification according to guideline-conform principles. On the basis of the vote of the certification commission for gynaecological cancer centres under the chairmanship of the DKG, the Working Group for Gynaecological Oncology (Arbeitsgemeinschaft Gynäkologische Onkologie e. V. [AGO]), the Committee on Cervical Pathology and Colposcopy (Arbeitsgemeinschaft Zervixpathologie & Kolposkopie [AG-CPC]) and the DGGG the certification system for gynaecological dysplasia has been established. As a general principle, a distinction is made between the certification of a consulting practice for gynaecological dysplasia and a gynaecological dysplasia facility in order to integrate both outpatient and inpatient health-care facilities into the certification system. In analogy to the further catalogue of requirements from the DKG, quantitative and qualitative minimum numbers are demanded. Furthermore, the requirements of the certification process include a summary of patient information, the applied guidelines, continuing and further training, interdisciplinary cooperation in tumour boards, contents or, respectively, procedure

  18. Intraoperative coronary artery dissection in fibromuscular dysplasia.

    PubMed

    Lou, Xiaoying; Mitter, Sumeet S; Blair, John E; Benzuly, Keith; Gambardella, Ivancarmine; Malaisrie, S Chris

    2015-04-01

    A 61-year-old woman with bicuspid aortic stenosis, an ascending aortic aneurysm, and a remote history of renal fibromuscular dysplasia underwent aortic root replacement complicated by extensive dissection of the left circumflex artery extending retrograde into the left anterior descending artery. This was managed by coronary artery bypass grafting, left ventricular support, and percutaneous coronary intervention for propagation of the dissection. This case highlights the prevalence, diagnosis, and management of intraoperative coronary dissection secondary to fibromuscular dysplasia. PMID:25841833

  19. Wake-up test in total hip arthroplasty with high-riding developmental dysplasia.

    PubMed

    Chen, Kun-Hui; Wang, Hsin-Yi; Sung, Chun-Sung; Wu, Po-Kuei; Chen, Cheng-Fong; Liu, Chien-Lin; Chen, Wei-Ming

    2014-07-01

    Total hip arthroplasty (THA) for patients with Crowe type IV developmental dysplasia of the hip is technically challenging. This group of patients has a higher incidence of nerve injury during THA. Although neurophysiologic intraoperative monitoring has been developed to provide nerve monitoring, it is not always available. The wake-up test has been used for intraoperative spinal cord monitoring during major spinal surgery, but no study has reported the use of the wake-up test for neurologic monitoring during THA in patients with severe developmental dysplasia of the hip. The authors retrospectively reviewed 22 THA procedures in 20 patients with Crowe type IV developmental dysplasia of the hip who underwent the wakeup test during THA. In the current study, 1 patient could not dorsiflex her foot during the wake-up test. Therefore, the authors immediately reduced the length of limb lengthening by 1 cm. Postoperative drop foot and numbness occurred but resolved completely 2 months later. None of the patients who showed no deficits in motion of the feet during the intraoperative wake-up test had signs of postoperative nerve injury. In the current study, there was no false-positive or false-negative finding. The authors concluded that the wake-up test, which is simple, safe, and reliable, is a useful technique and a possible alternative to neurophysiologic intraoperative monitoring in checking nerve function during THA in patients with severe developmental dysplasia of the hip. PMID:24992057

  20. Balloon kyphoplasty for vertebral compression fractures secondary to polyostotic fibrous dysplasia. Case report.

    PubMed

    Deen, H Gordon; Fox, Thomas P

    2005-09-01

    This 25-year-old woman with polyostotic fibrous dysplasia (McCune-Albright syndrome) suffered low-back pain after a minor traumatic injury. Neurological examination demonstrated normal status. Magnetic resonance imaging revealed cystic lesions in multiple thoracic and lumbar vertebral bodies, consistent with polyostotic fibrous dysplasia. Severe vertebral compression fractures (VCFs) were seen at T-8 and L-2. Balloon kyphoplasty was performed to treat the T-8 and L-2 VCFs and also prophylactically at T-9 and T-10 to forestall impending fractures at those levels. The patient tolerated the procedures very well and reported complete resolution of back pain. Balloon kyphoplasty may be an option in patients with painful VCFs caused by fibrous dysplasia.

  1. Concurrent cemento-osseous dysplasia and osteogenic sarcoma: report of two cases.

    PubMed

    Olusanya, A A; Adeyemi, B F; Adisa, A O

    2012-01-01

    Aim. Cemento-osseous dysplasia (COD) represents a rare group of benign fibroosseous disorders, while osteogenic sarcoma (OS) on the hand, is a malignant tumour of ominous prognosis. A combination of COD and OS is rare and sparsely reported in literature. There are only four reported cases known to the authors. The aim of this paper is to report additional cases of COD occurring concurrently with OS. Materials and Methods. The clinicoradiologic findings and histological analysis of mandibular lesions in two patients who reported at the Dental Centre of the University College Hospital, Ibadan, Nigeria, are presented. Results. The two patients were diagnosed of mandible osteosarcoma occurring concurrently with bilateral mandibular focal cemento-osseous dysplasia. Conclusion. The simultaneous occurrence of osteosarcoma and cemento-osseous dysplasia raises the question of whether COD has transformed into OS or a collision tumour has occurred and their simultaneous occurrence is just a coincidence.

  2. 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.

  3. 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

  4. HPV immunohistochemical testing and cervical dysplasia

    PubMed Central

    MUREŞAN, DANIEL; ROTAR, IOANA CRISTINA; APOSTOL, SILVANA; COROIU, GEORGIANA; STAMATIAN, FLORIN

    2016-01-01

    Background and aim HPV (Human Papilloma Virus) infection represents a necessary condition for cervical carcinogenesis. The purpose of this study was to evaluate the efficiency of HPV testing using an immunohistochemical staining kit with implications upon both diagnosis and treatment of cervical intraepithelial neoplasia (CIN). Methods Seventy-nine patients and eighty-six controls were enrolled in the study. Each patient had completed a physical examination, gynecological examination with cervical sampling using a liquid-based cytology system and also colposcopy. The cervical samples were analyzed according to Bethesda terminology and HPV-HR immunohistochemical staining was performed. In all the patients with high-grade lesion a surgical excision procedure was performed followed by pathological examination of the specimen. The collected data were analyzed using statistical software. Results The colposcopic examination has detected acetowhite modifications of the cervical epithelium in 47% of patients with ASC-US (Atypical squamous cells of undetermined significance) in 71% of patients with LSIL (Low grade squamous intraepithelial lesion) and in 100% of patients with HSIL ( High grade squamous intraepithelial lesion). The biopsy confirmed the diagnosis of LSIL in 27% of biopsy specimens in patients with ASC-US and in 79.99% of patients with LSIL respectively. In all patients with HSIL the diagnosis was CIN II or higher. The percentage of HPV-HR (Human Papilloma Virus – High Risk) positivity porportionaly increased with the severity of cytological diagnosis: 30% in ASC-US, 42.86% in LSIL and 75% in HSIL patients. The sensitivity of detection of HPV-HR was 50% with CI 95% [17.45;82.55] for ASC-US, 77.77% with CI 95% [51.91;92.62] for LSIL and 81.81% with CI 95% [58.99;94.00] for HSIL. Conclusion HPV testing can be an important screening tool for cervical dysplasia. The HPV testing targeting high risk types is indicated for ASC-US and LSIL triage. The present work

  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. PMID:27410998

  6. 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. PMID:21155763

  7. Scattering attenuation microscopy of oral epithelial dysplasia

    NASA Astrophysics Data System (ADS)

    Tomlins, Pete H.; Adegun, Oluyori; Hagi-Pavli, Eleni; Piper, Kim; Bader, Dan; Fortune, Farida

    2010-11-01

    We present a new method for quantitative visualization of premalignant oral epithelium called scattering attenuation microscopy (SAM). Using low-coherence interferometry, SAM projects measurements of epithelial optical attenuation onto an image of the tissue surface as a color map. The measured attenuation is dominated by optical scattering that provides a metric of the severity of oral epithelial dysplasia (OED). Scattering is sensitive to the changes in size and distribution of nuclear material that are characteristic of OED, a condition recognized by the occurrence of basal-cell-like features throughout the epithelial depth. SAM measures the axial intensity change of light backscattered from epithelial tissue. Scattering measurements are obtained from sequential axial scans of a 3-D tissue volume and displayed as a 2-D SAM image. A novel segmentation method is used to confine scattering measurement to epithelial tissue. This is applied to oral biopsy samples obtained from 19 patients. Our results show that imaging of tissue scattering can be used to discriminate between different dysplastic severities and furthermore presents a powerful tool for identifying the most representative tissue site for biopsy.

  8. Periapical cemento-osseous dysplasia: clinicopathological features.

    PubMed

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

    2014-05-01

    Periapical cemento-osseous dysplasia (PCOD) is a rare benign lesion, often asymptomatic, in which fibrous tissue replaces the normal bone tissue, with metaplasic bone and neo-formed cement. We present a rare case of mandibular PCOD in a woman of 55 years, who presented with moderate swelling and mobility of teeth 32-33-34. Endoral radiography showed that these teeth had been devitalized; they had deep periodontal pockets and marked radicular radiotransparency; the root apices exhibited mixed radiotransparency and radio-opacity. Clinical and radiographical findings led to a diagnosis of periapical rarefying osteitis, and the three teeth were thus extracted. Due to the persistence of swelling and slight pain post-extraction, a cone-beam computed tomographic scan was taken; this showed a mixed radiotransparent and radio-opaque lesion in the area of the extracted teeth. A bone biopsy of the affected area was taken for histopathological evaluation; a diagnosis of PCOD was rendered. This case demonstrates the importance of a full investigation when a patient presents after tooth extraction with non-healing socket, pain, and swelling. A multidisciplinary approach is required to manage these rare cases. PMID:24778071

  9. Periapical cemento-osseous dysplasia: clinicopathological features.

    PubMed

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

    2014-05-01

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

  10. 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

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

    PubMed

    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

    2015-09-15

    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.

  12. Colorectal dysplasia in inflammatory bowel disease: a clinicopathologic perspective.

    PubMed

    Rutter, Matthew D; Riddell, Robert H

    2014-03-01

    Surveillance for neoplasia in colitis is the most challenging diagnostic colonoscopic procedure. The detection and treatment of colorectal dysplasia in inflammatory bowel disease remain problematic to the point that unsuspected colorectal cancers (CRCs) are still identified. Excellent bowel preparation and use of high-resolution colonoscopes with chromoendoscopy facilitate the detection and characterization of subtle neoplasia. This approach is superior to taking random biopsy specimens and should be the standard of care for surveillance but requires adequate training. Suspicious lesions should be assessed carefully and described using objective terminology. The terms dysplasia-associated lesions/masses and flat dysplasia are best avoided because they may be open to misinterpretation. Most suspicious lesions detected during surveillance can be removed endoscopically, precluding the need for surgery. Nevertheless, endotherapy in colitis can be difficult as a result of underlying inflammation and scarring. Lesions that are not endoscopically resectable need to be removed surgically, although the possibility that some lesions might be amenable to local resection (including lymphadenectomy) rather than subtotal colectomy may need to be re-evaluated. Despite surveillance programs, patients still present clinically with CRC. This may occur because lesions are missed (possibly because of the failure to use optimal techniques), lesions are not adequately removed, patients fail to return for colonoscopy, or CRCs arise rapidly in mucosa that is minimally dysplastic and the CRCs are not recognized as being potentially invasive even on biopsy. Future advances in, for example, stool DNA assays, use of confocal endomicroscopy, or use of endoscopic ultrasound, may help in the identification of high-risk patients and the assessment of dysplastic lesions.

  13. Ectodermal Dysplasia with Amastia: A Case of One-Step Reconstruction

    PubMed Central

    Klinger, M.; Caviggioli, F.; Banzatti, B.; Fossati, C.; Villani, F.

    2009-01-01

    Background. Female patients presenting amastia associated with ectodermal dysplasia are not frequently encountered, but they are of great clinical interest and surgically demanding. Traditionally, skin alterations related to Ectodermal Dysplasia have addressed plastic surgeons to perform a two-stage approach in amastia associated with this congenital pathologic condition. This article describes an alternative method for correcting this deformity trough a mammary reconstruction in one surgical stage. Materials and Methods. We report a case of 26-year-old female patient with bilateral amastia associated with ectodermal dysplasia. Amastia in this patient was treated with implantation of subpectoral silicone gel prostheses, without previously breast tissue expansion. Results. At 18 months of follow-up after surgey, there were no complications and excellent cosmetic results were achieved. Patient and surgeon satisfaction was high and the patient underwent a bilateral areola-tattoo. Conclusions. One-stage mammary reconstruction have showed to be a reliable and effective technique also when amastia is associated with Ectodermal Dysplasia, suggesting a still satisfying biomechanical performance of the skin in this pathology. PMID:19710934

  14. Ectodermal dysplasia with amastia: a case of one-step reconstruction.

    PubMed

    Klinger, M; Caviggioli, F; Banzatti, B; Fossati, C; Villani, F

    2009-01-01

    Background. Female patients presenting amastia associated with ectodermal dysplasia are not frequently encountered, but they are of great clinical interest and surgically demanding. Traditionally, skin alterations related to Ectodermal Dysplasia have addressed plastic surgeons to perform a two-stage approach in amastia associated with this congenital pathologic condition. This article describes an alternative method for correcting this deformity trough a mammary reconstruction in one surgical stage. Materials and Methods. We report a case of 26-year-old female patient with bilateral amastia associated with ectodermal dysplasia. Amastia in this patient was treated with implantation of subpectoral silicone gel prostheses, without previously breast tissue expansion. Results. At 18 months of follow-up after surgey, there were no complications and excellent cosmetic results were achieved. Patient and surgeon satisfaction was high and the patient underwent a bilateral areola-tattoo. Conclusions. One-stage mammary reconstruction have showed to be a reliable and effective technique also when amastia is associated with Ectodermal Dysplasia, suggesting a still satisfying biomechanical performance of the skin in this pathology.

  15. Computer-aided diagnosis of dysplasia in Barrett"s esophagus using endoscopic optical coherence tomography

    NASA Astrophysics Data System (ADS)

    Qi, Xin; Sivak, Michael V., Jr.; Wilson, David L.; Rollins, Andrew M.

    2004-07-01

    Barrett's esophagus (BE) has become a major health care burden because of its association with adenocarcinoma of the esophagus. We have shown that endoscopic optical coherence tomography (EOCT) has a 70% accuracy in the diagnosis of dysplasia (Gastrointest Endosc 2003; 57:AB77). To demonstrate the feasiblity of computer aided diagnosis (CAD) of dysplasia in BE using EOCT digital images, to quantitate/standardize the diagnosis of dysplasia, and to develop algorithms suitable for EOCT surveillance of large areas of Barrett"s mucosa, 106 EOCT images were selected (13 patients from 28 cases) from the clinical study including 68 of non-dysplastic and 38 of dysplastic mucosa. From the digital image stream, the 3 frames immediately preceding impact of the forceps on the tissue were selected to insure close correlation between histology/EOCT image pairs. Computer aided diagnosis by center symmetric autocorrelation (CENS) and principal component analysis (PCA) were used for feature parameter extraction and analysis based on the segmented ROI. Leave-one-out cross-validation was used for classification and finally receiver operating characteristic (ROC) curve was used to evaluate the performance of CAD and the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy were calculated. The result shows that CAD is able to achieve a higher accuracy than humans for identification of dysplasia in EOCT images. CAD may be of assistance in the EOCT surveillance of large surface areas of Barrett"s mucosa for dysplasia.

  16. Endoscopic marsupialization of frontoethmoid mucocele with underlying craniofacial fibrous dysplasia.

    PubMed

    Wie, Chan-Eun; Hong, Sung-Lyong; Mun, Sue-Jean; Cho, Kyu-Sup

    2015-01-01

    Fibrous dysplasia (FD) is a benign progressive fibro-osseous lesion that is rarely associated with mucocele formation. This complication most probably results from the involvement and subsequent occlusion of the recesses of the sinuses by the dysplastic process. The frontoethmoid mucocele associated with FD represents a rare pathology, but it is important to consider this in the differential diagnosis of patients with proptosis, visual disturbance, and bony fronto-orbital swellings. Here, we describe the first case of frontoethmoid mucocele with underlying craniofacial FD, which was successfully treated by wide marsupialization via the transnasal endoscopic approach.

  17. Osteofibrous dysplasia of the tibia treated by bracing.

    PubMed

    Akamatsu, N; Hamada, Y; Kohno, H; Siddiqi, N A

    1992-01-01

    Osteofibrous dysplasia of the tibia in children will commonly recur after surgical resection. The use of a leg brace until puberty offers a useful method of conservative management. Seven female patients, age three months to nine years at the time of brace treatment, have been followed for 3.5 to 18 years, an average of nine years, with evidence of satisfactory healing of the lesions in all. Three of the cases had recurred after surgery, two with fibular grafts and one required leg lengthening. The use of a brace to control bowing of the tibia while awaiting spontaneous regression is advised until epiphyseal closure. PMID:1428320

  18. Progressive diaphyseal dysplasia (Engelmann disease): scintigraphic-radiographic-clinical correlations

    SciTech Connect

    Kumar, B.; Murphy, W.A.; Whyte, M.P.

    1981-07-01

    Four patients (2 males, 2 females; ages 15-47 yrs.) with variable clinical, radiographic, and scintigraphic manifestations of progressive diaphyseal dysplasia (PDD) or Engelmann disease were studied with 99mTc methylene diphosphonate bone imaging and radiographic skeletal surveys. Comparison of the results of the two imaging procedures showed that some affected bones were scintigraphically normal but radiographically abnormal and vice versa. These findings suggest that the lesions of PDD may mature, causing a significant decrease in disease activity, and that abnormally increased radiopharmaceutical accumulation during bone scintigraphy appears to be a sensitive indicator of disease activity.

  19. Oxidative Stress and Bronchopulmonary Dysplasia

    PubMed Central

    Perrone, Serafina; Tataranno, Maria Luisa; Buonocore, Giuseppe

    2012-01-01

    Bronchopulmonary dysplasia (BPD) is the major cause of pulmonary disease in infants. The pathophysiology and management of BPD changed with the improvement of neonatal intensive care unit (NICU) management and with the increase of survival rates. Despite the improvements made, BPD is still a public health concern, resulting in frequent hospitalizations with high rates of mortality, impaired weight and height growth, and neurodevelopmental disorders. Lung injury in the neonatal period has multiple etiologic factors – genetic, hemodynamic, metabolic, nutritional, mechanical, and infectious mechanisms – act in a cumulative and synergic way. Free radical (FR) generation is largely recognized as the major cause of lung damage. Oxidative stress (OS) is the final common endpoint for a complex convergence of events, some genetically determined and some triggered by in utero stressors. Inflammatory placental disorders and chorioamnionitis also play an important role due to the coexistence of inflammatory and oxidative lesions. In addition, the contribution of airway inflammation has been extensively studied. The link between inflammation and OS injury involves the direct activation of inflammatory cells, especially granulocytes, which potentiates the inflammatory reaction. Individualized interventions to support ventilation, minimize oxygen exposure, minimize apnea, and encourage growth should decrease both the frequency and severity of BPD. Future perspectives suggest supplementation with enzymatic and/or non-enzymatic antioxidants. The use of antioxidants in preterm newborns particularly exposed to OS and at risk for BPD represents a logical strategy to ameliorate FRs injury, but further studies are needed to support this hypothesis. PMID:24027702

  20. Developmental dysplasia of the hip

    PubMed Central

    Noordin, Shahryar; Umer, Masood; Hafeez, Kamran; Nawaz, Haq

    2010-01-01

    Developmental dysplasia of the hip (DDH) is a spectrum of anatomical abnormalities of the hip joint in which the femoral head has an abnormal relationship with the acetabulum. Most studies report an incidence of 1 to 34 cases per 1,000 live births and differences could be due to different diagnostic methods and timing of evaluation. Risk factors include first born status, female sex, positive family history, breech presentation and oligohydramnios. Clinical presentations of DDH depend on the age of the child. Newborns present with hip instability, infants have limited hip abduction on examination, and older children and adolescents present with limping, joint pain, and/or osteoarthritis. Repeated, careful examination of all infants from birth and throughout the first year of life until the child begins walking is important to prevent late cases. Provocative testing includes the Barlow and Ortolani maneuvers. Other signs, such as shorting of the femur with hips and knees flexed (Galeazzi sign), asymmetry of the thigh or gluteal folds, and discrepancy of leg lengths are potential clues. Treatment depends on age at presentation and outcomes are much better when the child is treated early, particularly during the first six months of life. PMID:21808709

  1. The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.

    PubMed

    Döneray, Hakan; Usui, Takeshi; Kaya, Avni; Dönmez, Ayşe Sena

    2015-06-01

    Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.

  2. Pyle metaphyseal dysplasia in an African child: Case report and review of the literature.

    PubMed

    Wonkam, A; Makubalo, N; Roberts, T; Chetty, M

    2016-06-01

    Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist fractures following minor trauma. The radiological findings revealed abnormally broad metaphyses of the tubular bones, known as Erlenmeyer-flask bone deformity, and mild cranial sclerosis, both hallmarks of the condition. We report the first case in a patient with African ancestry, which could help in the gene discovery of this rare autosomal recessive skeletal dysplasia with unknown mutations. PMID:27245543

  3. Patellar lateral closing-wedge osteotomy in habitual patellar dislocation with severe dysplasia.

    PubMed

    Choufani, C; Barbier, O; Versier, G

    2015-11-01

    The "à la carte" surgical strategy for treating patellar instability developed in Lyon, France, is well known. The corrective procedures are planned based on a preoperative analysis of the morphological abnormalities. Among factors responsible for patellofemoral incongruity, patellar dysplasia is among the most challenging to correct. We report a case of habitual patellar dislocation with severe patellar dysplasia that required a complex surgical strategy including patellar lateral closing-wedge osteotomy to improve patellofemoral congruity. This treatment was effective in ensuring stability and function. This complementary technical procedure can be useful in some patients with major patellofemoral instability. PMID:26456287

  4. Familial florid cemento-osseous dysplasia: a rare manifestation in an Indian family.

    PubMed

    Srivastava, Adit; Agarwal, Rahul; Soni, Romesh; Sachan, Avesh; Shivakumar, G C; Chaturvedi, T P

    2012-01-01

    Florid cemento-osseous dysplasia (FCOD) is one of the uncommon dysplasias affecting the maxillofacial region. The age group may vary from 19 to 76 years and typically presents in the 4th and 5th decades. In most cases patients do not have hereditary basis of disease, and only a few familial cases have been documented. As far as we know this is the 1st reported case of familial FCOD in an Indian family. The mother and son exhibited multiple sclerotic masses in both jaws. The mode of transmission appeared to be autosomal dominant with variable phenotypic expression.

  5. Cushing syndrome, sexual precocity, and polyostotic fibrous dysplasia (Albright syndrome) in infancy.

    PubMed

    Danon, M; Robboy, S J; Kim, S; Scully, R; Crawford, J D

    1975-12-01

    The sexual precocity of polyostotic fibrous dysplasia is occasionally accompanied by other endocrine disorders, but in only two previous instances has Cushing syndrome been reported. The history of a 6-month-old girl is presented, in whom this syndrome was complicated by congenital Cushings syndrome. Although endocrinopathies of polyostotic fibrous dysplasia have usually been ascribed to a central (hypothalamic) origin, the findings in this patient suggest autonomous hyperfunction of the peripheral endocrine glands, with the Cushing syndrome caused by hyperplastic nodules in the adrenal glands and the precocity by luteinized follicular cysts of the ovary.

  6. 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. PMID:27218252

  7. 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.

  8. [Thirty-eight cases of dysplasia of the superior mesenteric artery].

    PubMed

    Cormier, F; Cormier, J-M

    2005-07-01

    Dysplasia of the renal and cervical arteries are well known, but dysplasia of the superior mesenteric artery (SMA) is less frequent and has specific presentation. There have been few reports on the different types of presentations. We report a series of 38 cases and present the characteristic features together with a comparison with data in the literature. These non-atheromatous non-inflammatory lesions of the arterial wall occurred either in a context of fibromuscular disease which cause is unknown (30/38 patients) or in patients with genetic disease such as neurofibromatosis (3/38) or Ehlers-Danlos disease (5/38). The fibromuscular disease presented three aspects with specific characteristics. a) stenosing lesions found predominantly in women with a different morphology than in the other localization (usually associated): irregular diffuse stenosis discovered in patients with hypertension, or ischemic digestive symptoms (6/14 patients). b) Aneurysms, also found predominantly in women, but less frequently associated with other dysplasias. These aneurysms were generally sacciform. Unlike data in the literature, our series only included rupture in 1/8 cases. The aneurysm was discovered during the exploration of abdominal pain or hypertension. c) The third type of fibromuscular disease concerned dissections which were observed in the male population, (except one case of segmental dysplasia), and presented with signs of digestive ischemia in the other seven patients, four in an emergency context requiring immediate treatment. Two genetic diseases were observed. a) Neurofibromatosis led to dysplasia analogous to fibromuscular disease, but with abnormal nerve formations in the wall. For the three cases observed, one involved only the visceral arteries and the two others thoraco-abdominal coarctation. b) We had five patients with Ehlers-Danlos syndrome, with dysplasia of the superior mesenteric artery. For three there was a fusiform dilatation and in one small aneurysms

  9. Bilateral supplemental permanent maxillary lateral incisors in a non-syndromic patient

    PubMed Central

    Bhullar, Mandeep Kaur; Uppal, Amandeep Singh; Kochhar, Gulsheen Kaur; Singh, Ranjit

    2014-01-01

    A supernumerary tooth is an additional entity to the normal series and can be seen in all quadrants of the jaw. Occurrence may be single or multiple, unilateral or bilateral, erupted or impacted in one or in both jaws. Multiple supernumeraries are rare in individuals with no other associated disease or syndromes. The conditions commonly associated with an increased prevalence of supernumerary teeth include cleft lip and palate, cleidocranial dysplasia and Gardner syndrome. The supplemental supernumerary refers to a duplication of teeth in normal series and is found at the end of a tooth series. A supplemental tooth may closely resemble the teeth of the group to which it belongs or it may bear little resemblance in size or shape to the teeth with which it is associated. This report presents a case with bilateral supplemental upper permanent lateral incisors without any symptoms of associated disorders. PMID:25168674

  10. 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

  11. Olfactory dysfunction as first presenting symptom of cranial fibrous dysplasia

    PubMed Central

    Tsakiropoulou, Evangelia; Konstantinidis, Iordanis; Chatziavramidis, Angelos; Constantinidis, Jannis

    2013-01-01

    Fibrous dysplasia (FD) is a benign bone disorder presenting with a variety of clinical manifestations. This is the first reported case of anosmia as presenting symptom of FD. We present the case of a 72-year-old female patient with a progressive olfactory dysfunction. Clinical examination revealed evidence of chronic rhinosinusitis; therefore the patient was treated with a course of oral corticosteroids. The patient had no improvement in her olfactory ability and imaging studies were ordered. Bony lesions characteristic of craniofacial FD were found, causing obstruction of the central olfactory pathway. This case emphasises the need to conduct further investigations in patients with rhinosinusitis and olfactory dysfunction especially when they present no response to oral steroid treatment. PMID:23893286

  12. Fibrous dysplasia of the temporal bone.

    PubMed

    Mallina, S; Philip, R; Chong, A W; Gurdeep, S

    2007-06-01

    Fibrous dysplasia is a benign disease characterized by a progressive replacement of normal bone elements with fibrous tissue and the temporal bone involvement is uncommon. It has a male:female ratio of 2:1 and is seen more commonly in the first two decades of life. Diagnosis is made based on radiological findings and the modality of treatment is mainly conservative. However, surgery is reserved for preserving function and preventing complications. Fibrous dysplasia in the region of craniofacial bones is of particular interest to the otolaryngologist as it causes deformity and dysfunction that can be debilitating. We present a 49 year old Chinese gentleman with complaints of chronic dizziness over the last one year and had no obvious hearing impairment. Computed tomography of the mastoid revealed fibrous dysplasia of the right temporal bone. This case is of particular interest due to the late presentation as it is more commonly seen in the first two decades of life.

  13. Positive margins after cervical conization as an indicator of residual dysplasia.

    PubMed

    Huang; Anderson

    1998-07-01

    Objective: To determine the significance of positive margins of resection after cervical conization as an indicator of residual dysplasia.Materials and Methods: A retrospective analysis for patients who underwent cervical conization either by loop electrosurgical excision procedure or cold knife conization between 1986 and 1997 at Montefiore Medical Center and North Central Bronx Hospital. The factors evaluated included grade of dysplasia with respect to positive or negative margins and post-procedure follow-up. Differences among groups were evaluated using the chi(2) and Fisher's Exact test.Results: Of a total of 179 patients, 99 had positive margins of resection and 80 had negative margins of resection. Twenty-six patients had CIN I, of which 10 had positive margins of resection and 16 had negative margins of resection. There were 30 patients with CIN II, of which 13 had positive margins and 17 had negative margins. One hundred fourteen patients had CIN III/carcinoma in situ (CIS), of which 68 had positive margins of resection while 46 had negative margins of resection. Nine patients had microinvasive disease (MIC), of which 8 had positive margins of resection and 1 had negative margin of resection. The correlation between higher grades of dysplasia and the likelihood of having positive margins was noted to be statistically significant (P =.02). Patients were followed up from a period of 6 weeks to 5 years.Of the patients with CIN I and positive margins, 5 had a normal post-cone Papanicolaou smear while 2 had an abnormal post-cone Papanicolaou smear. Seven of 9 patients with CIN II and positive margins had normal initial post-procedure Papanicolaou smear while only 2 had abnormal initial post follow-up Papanicolaou smear. Twenty-five patients with CIN III/CIS and positive margins had normal Papanicolaou smears at their initial post-procedure follow-up while 36 patients had an abnormal initial follow-up. Six of 8 patients with MIC and positive margins had

  14. Denosumab Treatment for Fibrous Dysplasia

    PubMed Central

    Boyce, AM; Chong, WH; Yao, J; Gafni, RI; Kelly, MH; Chamberlain, CE; Bassim, C; Cherman, N; Ellsworth, M; Kasa-Vubu, JZ; Farley, FA; Molinolo, AA; Bhattacharyya, N; Collins, MT

    2012-01-01

    Fibrous dysplasia (FD) is a skeletal disease caused by somatic activating mutations of the cAMP-regulating protein, Gsα. 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. RANK 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 pre-treatment 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 three months. Over seven months of treatment he showed marked reduction in pain, bone turnover markers, 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. Bone turnover markers (BTM) showed rapid and sustained suppression. With discontinuation there was rapid and dramatic rebound of BTM) with CTX (reflecting osteoclast activity) exceeding pre-treatment levels, and 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 of FD warrants further study to confirm efficacy and determine potential morbidity, as well as

  15. Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.

    PubMed

    Scheps, Karen G; Francipane, Liliana; Nevado, Julián; Basack, Nora; Attie, Myriam; Bergonzi, María Fernanda; Cerrone, Gloria E; Lapunzina, Pablo; Varela, Viviana

    2016-04-01

    Two distinct syndromes that link α-thalassemia and intellectual disability (ID) have been described: ATR-X, due to mutations in the ATRX gene, and ATR-16, a contiguous gene deletion syndrome in the telomeric region of the short arm of chromosome 16. A critical region where the candidate genes for the ID map has been established. In a pediatric patient with Hemoglobin H disease, dysmorphic features and ID, 4 novel and clinically relevant Copy Number Variants were identified. PCR-GAP, MLPA and FISH analyses established the cause of the α-thalassemia. SNP-array analysis revealed the presence of 4 altered loci: 3 deletions (arr[hg19]Chr16(16p13.3; 88,165-1,507,988) x1; arr[hg19]Chr6(6p21.1; 44,798,701-45,334,537) x1 and arr[hg19]Chr17(17q25.3; 80,544,855-81,057,996) x1) and a terminal duplication (arr[hg19]Chr7(7p22.3-p22.2; 4,935-4,139,785) x3). The -α(3.7) mutation and the ∼1.51 Mb in 16p13.3 are involved in the alpha-thalassemic phenotype. However, the critical region for ATR-16 cannot be narrowed down. The deletion affecting 6p21.1 removes the first 2 exons and part of intron 2 of the RUNX2 gene. Although heterozygous loss of function mutations affecting this gene have been associated with cleidocranial dysplasia, the patient does not exhibit pathognomonic signs of this syndrome, possibly due to the fact that the isoform d of the transcription factor remains unaffected. This work highlights the importance of searching for cryptic deletions in patients with ID and reiterates the need of the molecular analysis when it is associated to microcytic hypochromic anemia with normal iron status. PMID:26753516

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

    PubMed

    Kolb, A; Windhager, R; Chiari, C

    2015-11-01

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

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

    PubMed

    Troelsen, Anders

    2012-06-01

    Hip dysplasia and hip joint deformities in general are recognized as possible precursors of osteoarthritic development. Early and correct identification of hip dysplasia is important in order to offer timely joint preserving treatment. In the contemporary literature, several controversies exist, and some of these were the focus of this doctoral thesis. Categorized into subjects, the major findings and their possible importance are listed below. DIAGNOSTIC ASSESSMENT OF HIP DYSPLASIA: A multi-observer study quantified the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis and resulted in general recommendations regarding diagnostic assessment of hip dysplasia. Pelvic tilt was shown to differ significantly between the supine and weight-bearing positions in patients with dysplastic hip joints. This is a finding that adds controversy to the application of neutral pelvic positioning during assessment of hip deformities because pelvic tilt affects the appearance of acetabular version. Weight-bearing assessment of acetabular version showed the presence of retroversion in 33% of dysplastic hips. The establishment of retroversion as a rather frequent entity in dysplastic hips is contradictory to the historical finding that hip dysplasia is characterized by insufficient anterior and lateral coverage. In general, the findings have important implications for orthopedic surgeons and radiologists dealing with diagnostic assessment of painful hips in young adults, and for surgeons planning and performing joint-preserving periacetabular osteotomies. ASSESSMENT OF ACETABULAR LABRAL TEARS IN HIP DYSPLASIA: The roles of ultrasound and clinical tests in acetabular labral tear diagnostics were established. After overcoming an initial learning curve, ultrasound investigation was highly reliable in diagnosing labral tears, whereas only a positive impingement or FABER test was reliable in identifying a labral tear. It seems that non-invasive and

  18. Barrett's oesophagus: frequency and prediction of dysplasia and cancer.

    PubMed

    Falk, Gary W

    2015-02-01

    The incidence of oesophageal adenocarcinoma is continuing to increase at an alarming rate in the Western world today. Barrett's oesophagus is a clearly recognized risk factor for the development of oesophageal adenocarcinoma, but the overwhelming majority of patients with Barrett's oesophagus will never develop oesophageal cancer. A number of endoscopic, histologic and epidemiologic risk factors identify Barrett's oesophagus patients at increased risk for progression to high-grade dysplasia and oesophageal adenocarcinoma. Endoscopic factors include segment length, mucosal abnormalities as seemingly trivial as oesophagitis and the 12 to 6 o'clock hemisphere of the oesophagus. Both intestinal metaplasia and low grade dysplasia, the latter only if confirmed by a pathologist with expertise in Barrett's oesophagus pathologic interpretation are the histologic risk factors for progression. Epidemiologic risk factors include ageing, male gender, obesity, and smoking. Factors that may protect against the development of adenocarcinoma include a diet rich in fruits and vegetables, and the use of proton pump inhibitors, aspirin/NSAIDs and statins. PMID:25743461

  19. Barrett's oesophagus: frequency and prediction of dysplasia and cancer.

    PubMed

    Falk, Gary W

    2015-02-01

    The incidence of oesophageal adenocarcinoma is continuing to increase at an alarming rate in the Western world today. Barrett's oesophagus is a clearly recognized risk factor for the development of oesophageal adenocarcinoma, but the overwhelming majority of patients with Barrett's oesophagus will never develop oesophageal cancer. A number of endoscopic, histologic and epidemiologic risk factors identify Barrett's oesophagus patients at increased risk for progression to high-grade dysplasia and oesophageal adenocarcinoma. Endoscopic factors include segment length, mucosal abnormalities as seemingly trivial as oesophagitis and the 12 to 6 o'clock hemisphere of the oesophagus. Both intestinal metaplasia and low grade dysplasia, the latter only if confirmed by a pathologist with expertise in Barrett's oesophagus pathologic interpretation are the histologic risk factors for progression. Epidemiologic risk factors include ageing, male gender, obesity, and smoking. Factors that may protect against the development of adenocarcinoma include a diet rich in fruits and vegetables, and the use of proton pump inhibitors, aspirin/NSAIDs and statins.

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

    PubMed

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

    2015-11-01

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

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

    PubMed

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

    2015-11-01

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

  2. Ultrasonic demonstration of fetal skeletal dysplasia. Case reports.

    PubMed

    Muller, L M; Cremin, B J

    1985-02-01

    Reports on prenatal diagnosis in cases of skeletal dysplasia have mostly been in high-risk mothers with a suspect genetic background where the fetal lesion could probably be predetermined. We deal with routine ultrasonographic appraisal of the fetal skeleton when dysplasia is not initially suspected, and relate our experience of the lethal forms of this condition. During the 4-year period 1981-1984, 6 cases of skeletal dysplasia, including thanatophoric dysplasia, achondrogenesis, the Ellis-van Creveld syndrome (chondro-ectodermal dysplasia) and osteogenesis imperfecta, were detected; the ultrasonographic findings are discussed. PMID:3885435

  3. Dysplasia discrimination in intestinal-type neoplasia of the esophagus and colon via digital image analysis.

    PubMed

    Martin, David R; Braxton, David R; Farris, Alton B

    2016-10-01

    Determining gastrointestinal tract dysplasia level is clinically important but can be difficult, and given this challenge, we investigated colonic and esophageal dysplastic progression using digital image analysis (IA). Whole slide images were obtained for colonic normal mucosa (NCM), hyperplastic polyps (HP), conventional tubular adenomas (TA), and adenomas with high-grade dysplasia (HGD), and esophageal intestinal metaplasia negative for dysplasia (IM), indefinite for dysplasia (IFD), low-grade dysplasia (LGD), and HGD. Characteristic nuclei were circumscribed, and parameters discriminating groups included nuclear circumference (μm), area (μm(2)), and 15 positive pixel count (PPC) algorithm IA measurements. In colon polyps and esophageal lesions, average nuclear area and circumference ranged 30-108.6 μm(2) and 27.5-48.9 μm, respectively. Differences for average nuclear area and circumference met statistical significance (p < 0.05) between diagnostic groups in the esophagus and colon, except for IM versus IFD nuclear area. Pixel intensity (brightness) separated lesions within both groups with statistical significance except for colonic TAs versus HPs and esophageal LGD versus IM. HGD nuclei in both groups demonstrated more pixel staining heterogeneity than other lesions. Hierarchical clustering and principal component analysis demonstrated that lesions with similar diagnoses tended to cluster together on a low- to high-grade spectrum. Our results confirm that quantitative IA is an effective adjunct reflecting dysplasia in colon polyps and Barrett esophagus lesions. Nuclear area, circumference, and PPC algorithm findings distinguished lesions in a statistically significant manner. This suggests utility for future studies on similar methods, which may provide an adjunctive ancillary technique for pathologists and enhance patient care. PMID:27492044

  4. Dysplasia discrimination in intestinal-type neoplasia of the esophagus and colon via digital image analysis.

    PubMed

    Martin, David R; Braxton, David R; Farris, Alton B

    2016-10-01

    Determining gastrointestinal tract dysplasia level is clinically important but can be difficult, and given this challenge, we investigated colonic and esophageal dysplastic progression using digital image analysis (IA). Whole slide images were obtained for colonic normal mucosa (NCM), hyperplastic polyps (HP), conventional tubular adenomas (TA), and adenomas with high-grade dysplasia (HGD), and esophageal intestinal metaplasia negative for dysplasia (IM), indefinite for dysplasia (IFD), low-grade dysplasia (LGD), and HGD. Characteristic nuclei were circumscribed, and parameters discriminating groups included nuclear circumference (μm), area (μm(2)), and 15 positive pixel count (PPC) algorithm IA measurements. In colon polyps and esophageal lesions, average nuclear area and circumference ranged 30-108.6 μm(2) and 27.5-48.9 μm, respectively. Differences for average nuclear area and circumference met statistical significance (p < 0.05) between diagnostic groups in the esophagus and colon, except for IM versus IFD nuclear area. Pixel intensity (brightness) separated lesions within both groups with statistical significance except for colonic TAs versus HPs and esophageal LGD versus IM. HGD nuclei in both groups demonstrated more pixel staining heterogeneity than other lesions. Hierarchical clustering and principal component analysis demonstrated that lesions with similar diagnoses tended to cluster together on a low- to high-grade spectrum. Our results confirm that quantitative IA is an effective adjunct reflecting dysplasia in colon polyps and Barrett esophagus lesions. Nuclear area, circumference, and PPC algorithm findings distinguished lesions in a statistically significant manner. This suggests utility for future studies on similar methods, which may provide an adjunctive ancillary technique for pathologists and enhance patient care.

  5. 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)

  6. Scintigraphic findings in progressive diaphyseal dysplasia

    SciTech Connect

    Lundy, M.M.; Billingsley, J.L.; Redwine, M.D.; Turnbull, G.L.; Brown, T.J.

    1982-04-01

    A 14-yr-old white male with a severe form of progressive diaphyseal dysplasia (Engelmann-Camurati disease) was referred to our institution for evaluation of splenomegaly, which is not usually associated with the disease. Our studies included bone-marrow, and liver-spleen scans. These scintigraphic findings, along with the probable cause for splenomegaly, are discussed.

  7. Scintigraphic findings in progressive diaphyseal dysplasia

    SciTech Connect

    Lundy, M.M.; Billingsley, M.L.; Redwine, M.D.; Turnbull, G.L.; Brown, T.J.

    1982-04-01

    A 14-yr-old white male with a severe form of progressive diaphyseal dysplasia (Engelmann-Camurati disease) was referred to our institution for evaluation of splenomegaly, which is not usually associated with the disease. Our studies included Tc-99m bone, bone-marrow, and liver-spleen scans. These scintigraphic findings, along with the probable cause for splenomegaly, are discussed.

  8. Specific skeletal dysplasias in utero: sonographic diagnosis.

    PubMed

    Pretorius, D H; Rumack, C M; Manco-Johnson, M L; Manchester, D; Meier, P; Bramble, J; Clewell, W

    1986-04-01

    A retrospective study was performed of 13 short-limbed fetuses with lethal skeletal dysplasias that were evaluated with ultrasound (US) from 1981 to 1984. The specific diagnoses were thanatophoric dwarfism, achondrogenesis, osteogenesis imperfecta, and campomelic dwarfism. Death occurred in utero or within 2 weeks after delivery in all cases. US examination showed other associated abnormalities, including polyhydramnios, hydrops, shortened femurs, and CNS abnormalities. Radiographs confirmed these findings and provided more information regarding the shape of the limbs and thorax and the appearance of the spine. The probable diagnosis of lethal short-limbed dwarfism was made antenatally using US in eleven of the fetuses. Spinal appearance, thoracic shape, and associated hydrops and polyhydramnios were most helpful in determining the specific type of dysplasia present. Lethal short-limbed skeletal dysplasia may be diagnosed confidently in utero using US examination; however, obstetric plain film radiography may be required to determine the definitive type of dysplasia. In certain cases, US may be sufficient to make a definitive diagnosis. PMID:3513248

  9. Antenatal diagnosis of lethal skeletal dysplasias.

    PubMed

    Tretter, A E; Saunders, R C; Meyers, C M; Dungan, J S; Grumbach, K; Sun, C C; Campbell, A B; Wulfsberg, E A

    1998-02-17

    Lethal skeletal dysplasias (LSD) are a heterogeneous group of rare but important genetic disorders characterized by abnormal growth and development of bone and cartilage. We describe the diagnosis and outcome of 29 cases of lethal skeletal dysplasias evaluated between January 1989 and December 1996 at the University of Maryland Medical Center and the Ultrasound Institute of Baltimore. Two cases presented at delivery with no prenatal care while the remaining 27 cases were identified by antenatal sonography. Final diagnoses included thanatophoric dysplasia (14), osteogenesis imperfecta, type II (6), achondrogenesis (2), short rib syndromes (3), campomelic syndrome (2), atelosteogenesis (1), and no evidence of a skeletal dysplasia (1). Twenty out of 27 pregnancies were terminated with an average at detection of 21.6 weeks. The other 7 pregnancies that went on to deliver had an average age at detection of 29.2 weeks. Fetal abnormalities in the terminated pregnancies were identified at a significantly earlier gestational age (P = 0.0016) than the pregnancies that continued. While the identification of LSD by sonography was excellent (26/27), only 13/27 (48%) were given an accurate specific antenatal diagnosis. In 8/14 (57%) cases with an inaccurate or nonspecific diagnosis there was a significant or crucial change in the genetic counseling. Thus, while antenatal sonography is an excellent method for discovering LSD, clinical examination, radiographs, and autopsy are mandatory for making a specific diagnosis. PMID:9489797

  10. Detection of intestinal dysplasia using angle-resolved low coherence interferometry

    NASA Astrophysics Data System (ADS)

    Terry, Neil; Zhu, Yizheng; Thacker, Julie K. M.; Migaly, John; Guy, Cynthia; Mantyh, Christopher R.; Wax, Adam

    2011-10-01

    Angle-resolved low coherence interferometry (a/LCI) is an optical biopsy technique that allows for depth-resolved, label-free measurement of the average size and optical density of cell nuclei in epithelial tissue to assess the tissue health. a/LCI has previously been used clinically to identify the presence of dysplasia in Barrett's Esophagus patients undergoing routine surveillance. We present the results of a pilot, ex vivo study of tissues from 27 patients undergoing partial colonic resection surgery, conducted to evaluate the ability of a/LCI to identify dysplasia. Performance was determined by comparing the nuclear morphology measurements with pathological assessment of co-located physical biopsies. A statistically significant correlation between increased average nuclear size, reduced nuclear density, and the presence of dysplasia was noted at the basal layer of the epithelium, at a depth of 200 to 300 μm beneath the tissue surface. Using a decision line determined from a receiver operating characteristic, a/LCI was able to separate dysplastic from healthy tissues with a sensitivity of 92.9% (13/14), a specificity of 83.6% (56/67), and an overall accuracy of 85.2% (69/81). The study illustrates the extension of the a/LCI technique to the detection of intestinal dysplasia, and demonstrates the need for future in vivo studies.

  11. Infusing Swanson's Theory of caring into an advanced practice nursing model for an infectious diseases anal dysplasia clinic.

    PubMed

    Ahern, Richard L; Corless, Inge B; Davis, Sheila M; Kwong, Jeffrey J

    2011-01-01

    The incidence of anal cancer is increasing among HIV-infected men and women. The process of screening for anal dysplasia and the management of abnormal findings are currently and most often based on a medical model. The needs of these patients, however, go well beyond medical care. A more comprehensive and holistic approach to health care is, therefore, required. Given the scope of practice of advanced practice nurses who are involved in the diagnosis and treatment of patients with anal dysplasia, it is appropriate for them to assume leadership roles in addressing the needs of these patients. This article describes the application of a theory of caring to create an advanced practice nursing model of care for HIV-infected men and women in infectious diseases anal dysplasia clinics. PMID:22035527

  12. Ellis-Van Creveld Dysplasia

    MedlinePlus

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  13. A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay

    PubMed Central

    Baratela, Wagner A.R.; Bober, Michael B.; Tiller, George E.; Okenfuss, Ericka; Ditro, Colleen; Duker, Angela; Krakow, Deborah; Stabley, Deborah L.; Sol-Church, Katia; Mackenzie, William; Lachman, Ralph; Scott, Charles I.

    2014-01-01

    We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral necks, shallow acetabular roofs, and platyspondyly. Facial features include: a flattened midface with broad nasal bridge, cleft palate or bifid uvula and synophrys. All of the patients demonstrated pre-school onset of a cognitive developmental delay with a shortened attention span. Some of the cognitive delay was masked by a warm and engaging personality. We posit that these individuals have a newly recognized syndrome characterized by the described features. There is some phenotypic overlap between these patients and Desbuquois dysplasia; however molecular testing demonstrated that this is a distinct disorder. Given the family information available for each patient, we are suspicious that the constellation of findings reported herein could be an X-linked recessive syndrome. PMID:22711505

  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. 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

  16. 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.

  17. Surgical treatment of developmental dysplasia of the hip.

    PubMed

    Wenger, Dennis R

    2014-01-01

    Ideally, developmental dysplasia of the hip is treated early in childhood by nonsurgical methods. If these methods are ineffective, surgical reduction in a nonambulating child is required. A young child (age 6 to 18 months) who requires surgical reduction can be treated by formal anterior open reduction or by the medial Ludloff approach to the hip. Additional bony procedures are usually not required in these young patients. Delayed diagnosis is still common, requiring surgical reduction for children of walking age. These older children usually require formal open reduction (anterior approach) plus an associated bony osteotomy (acetabular, proximal femoral, or, in some cases, both types of osteotomies) to better stabilize the hip. The addition of a proximal femoral derotational shortening osteotomy for open reduction in older children was first used in children older than 3 years, but now it is commonly used in children as young as 2 years. This osteotomy decreases the forces on the reduced hip and minimizes the chances for redislocation and osteonecrosis. In all surgical procedures for developmental dysplasia of the hip, the surgeon must avoid too great a focus on bony osteotomies because the management of soft-tissue abnormalities is critical in achieving a stable reduction. PMID:24720317

  18. 2008 International Conference on Ectodermal Dysplasias Classification Conference Report

    PubMed Central

    Salinas, Carlos F.; Jorgenson, Ronald J.; Wright, J. Timothy; DiGiovanna, John J.; Fete, Mary D.

    2009-01-01

    There are many ways to classify ectodermal dysplasia syndromes. Clinicians in practice use a list of syndromes from which to choose a potential diagnosis, paging through a volume, such as Freire-Maia and Pinheiro's corpus, matching their patient's findings to listed syndromes. Medical researchers may want a list of syndromes that share one (monothetic system) or several (polythetic system) traits in order to focus research on a narrowly defined group. Special interest groups may want a list from which they can choose constituencies, and insurance companies and government agencies may want a list to determine for whom to provide (or deny) health care coverage. Furthermore, various molecular biologists are now promoting classification systems based on gene mutation (e.g. TP63 associated syndromes) or common molecular pathways. The challenge will be to balance comprehensiveness within the classification with usability and accessibility so that the benefits truly serve the needs of researchers, health care providers and ultimately the individuals and families directly affected by ectodermal dysplasias. It is also recognized that a new classification approach is an ongoing process and will require periodical reviews or updates. Whatever scheme is developed, however, will have far-reaching application for other groups of disorders for which classification is complicated by the number of interested parties and advances in diagnostic acumen. Consensus among interested parties is necessary for optimizing communication among the diverse groups whether it be for equitable distribution of funds, correctness of diagnosis and treatment, or focusing research efforts. PMID:19681152

  19. Arrhythmogenic right ventricular dysplasia/cardiomyopathy in a Siberian husky.

    PubMed

    Fernández del Palacio, M J; Bernal, L J; Bayón, A; Bernabé, A; Montes de Oca, R; Seva, J

    2001-03-01

    A seven-month-old male Siberian husky was presented with a recent history of anorexia, hindlimb weakness and syncope. Physical examination revealed severe tachycardia, tachypnoea and dyspnoea. Mucous membranes were pale and femoral pulses were weak. An electrocardiogram showed sustained ventricular tachycardia with a left bundle branch block configuration. Thoracic radiographs revealed slight right ventricular enlargement and two-dimensional echocardiography revealed mild right ventricular dilation at the cardiac apex and some hyperechogenic areas on the right side of the interventricular septum. Administration of intravenous lignocaine converted the ventricular tachycardia to sinus rhythm. The maintenance antiarrhythmic therapy consisted of oral procainamide and propranolol. Three weeks later the dog died suddenly. On postmortem examination, the right ventricular free wall was very thin at the apex, infundibulum and caudal aspect of the right ventricular parietal wall, similar to the 'triangle of dysplasia' of human patients. Histopathological examination revealed replacement of several areas of right ventricular free wall myocardium with connective tissue and fat. The right atrium and left ventricle were less severely affected by the same lesions. The clinical and pathological findings are similar to those reported in young people with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

  20. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

    PubMed Central

    Superti-Furga, A.; Neumann, L.; Riebel, T.; Eich, G.; Steinmann, B.; Spranger, J.; Kunze, J.

    1999-01-01

    We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring.
  Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus.


Keywords: multiple epiphyseal dysplasia; DTDST; double layered patella PMID:10465113

  1. Fetal imaging in the skeletal dysplasias: overview and experience.

    PubMed

    Lachman, R S

    1994-01-01

    The skeletal dysplasias (osteochondrodysplasias) comprise a heterogeneous group of disorders that are characterized by generalized abnormalities of skeletal growth and development. Of approximately 125 well-described skeletal dysplasias, about 50 are clinically apparent and identifiable at birth. The prevalence of these dysplasias in the newborn is quite frequent and has been estimated to be between 3-4.5 per 10,000, and the overall frequency of skeletal dysplasias among perinatal deaths to be about 9 per 1,000. Over the past 23 years we have acquired an enormous experience in the International Skeletal Dysplasia Registry with skeletal dysplasias diagnosable at birth or earlier. More and more cases referred to the registry over the past 2 years have been diagnosed as abnormal by ultrasound during the second trimester. The results of our evaluation of almost 400 fetuses and stillborn babies with reference to detailed prenatal history and postmortem evaluation including radiographs, chondro-osseous morphology and even some biochemical and molecular studies are presented. The most common disorders diagnosed were osteogenesis imperfecta (OI), thanatophoric dysplasia, campomelic dysplasia and achondrogenesis type II. Twenty-two types of neonatally diagnosable skeletal dysplasias are discussed together with potential fetal (second trimester) ultrasound findings, the number of fetal ultrasound cases referred to this registry, the number of total cases of that disorder sent to our registry, and the inheritance pattern of that skeletal dysplasia. This information should prove helpful in the evaluation of future cases ascertained by ultrasonography in the second trimester. PMID:7700717

  2. Bilateral Staged Total Hip Replacement and the Natural Progress of an Untreated Case of Developmental Dysplasia (Dislocation) of the Hip: A Clinical Case Report by the Surgeon and the Patient

    PubMed Central

    Honarpisheh, Hamid; Ghazavi, Mohammad Taghi

    2015-01-01

    The natural history of an untreated case of a Developmental Dysplasia (Dislocation) of the Hip (DDH) associated with multiple congenital abnormalities is reported in a 55-years-old man. The patient’s complaints and the varieties of the typical manifestations emerged in other parts of the body throughout the life are reviewed and discussed as comorbidities of a dysplastic condition. Two-stage bilateral total hip replacement (THR) operations were performed at the age of 55. In addition, to relieve the pain, the walking disabilities were overcome, hence gaining normal walking in swing and stances. The leg length discrepancy was corrected by anatomically positioned prostheses, examined by the knee bending test and characterized and evidenced by radiological features and indices. PMID:26170527

  3. 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.

  4. Development of tissue-engineered models of oral dysplasia and early invasive oral squamous cell carcinoma

    PubMed Central

    Colley, H E; Hearnden, V; Jones, A V; Weinreb, P H; Violette, S M; MacNeil, S; Thornhill, M H; Murdoch, C

    2011-01-01

    Background: Current organotypic models of dysplasia and oral squamous cell carcinoma (OSCC) lack the complexity that mimics in vivo tissue. Here we describe a three-dimensional in vitro model of the oral epithelium that replicates tumour progression from dysplasia to an invasive phenotype. Methods: The OSCC cell lines were seeded as a cell suspension (D20, Cal27) or as multicellular tumour spheroids (FaDu) with oral fibroblasts on to a de-epidermised acellular dermis to generate tissue-engineered models and compared with patient biopsies. Results: The D20 and Cal27 cells generated a model of epithelial dysplasia. Overtime Cal27 cells traversed the basement membrane and invaded the connective tissue to reproduce features of early invasive OSCC. When seeded onto a model of the normal oral mucosa, FaDu spheroids produced a histological picture mimicking carcinoma in situ with severe cellular atypia juxtaposed to normal epithelium. Conclusion: It is possible to culture in vitro models with the morphological appearance and histological characteristics of dysplasia and tumour cell invasion seen in vivo using native dermis. Such models could facilitate study of the molecular processes involved in malignant transformation, invasion and tumour growth as well as in vitro testing of new treatments, diagnostic tests and drug delivery systems for OSCC. PMID:21989184

  5. 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

  6. 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.

  7. Prosthetic rehabilitation of a child affected from anhydrotic ectodermal dysplasia: a case report.

    PubMed

    Lo Muzio, Lorenzo; Bucci, Paolo; Carile, Francesco; Riccitiello, Francesco; Scotti, Claudio; Coccia, Erminia; Rappelli, Giorgio

    2005-08-15

    The aim of this clinical report is to describe the management of a young patient, affected by ectodermal dysplasia, during a nine-year period. Dental treatment can vary depending on the severity of the disease (tooth size, morphology, and amount of available alveolar bone). New technologies, such as adhesive dentistry, and new materials, such as composite resin, represent current options in the management of the dental rehabilitation of patients affected by ectodermal dysplasia. Removable partial dentures were used to replace congenitally missing teeth, and composite resin materials were used to restore conical-shaped maxillary teeth to achieve a favorable esthetic result. This option minimized the sacrifice of healthy dental tissue. Prosthodontic and restorative treatment was provided for the psychological and social comfort of the young patient.

  8. 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. PMID:26228491

  9. 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.

  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. Fluid and Electrolyte Balance During the First Week of Life and Risk of Bronchopulmonary Dysplasia in the Preterm Neonate

    PubMed Central

    Rocha, Gustavo; Ribeiro, Orquídea; Guimarães, Hercília

    2010-01-01

    BACKGROUND: Early fluid and electrolyte imbalances may be associated with an increased risk of bronchopulmonary dysplasia. OBJECTIVE: We sought to establish an association between fluid and electrolyte balance in the first week of life and the risk of bronchopulmonary dysplasia. METHODS: Clinical charts of 205 neonates <32 weeks gestational age and/or <1,250 g birth weight (admitted to our NICU between 1997 and 2008) were analyzed. Clinical features, fluid and electrolyte balance were analyzed for the first 7 days of life using multivariate models of generalized estimation equations. A p value <0.05 was considered significant in all of the hypothesis tests. RESULTS: The prevalence of bronchopulmonary dysplasia was 22%. Lower gestational age and birth weight, male gender, less frequent use of antenatal steroids, respiratory distress syndrome, use of surfactant, patent ductus arteriosus, duration of invasive ventilation and NICU stay were significantly associated with bronchopulmonary dysplasia. The variation in serum values of potassium, phosphorus and creatinine during the first week of life also revealed an association with bronchopulmonary dysplasia. Higher mean plasma calcium values were associated with spontaneous closure of the patent ductus arteriosus. The use of indomethacin to induce patent ductus arteriosus closure was significantly higher in bronchopulmonary dysplasia patients. CONCLUSIONS: Differences in renal function and tubular handling of potassium and phosphorus are present during the first week of life among preterm neonates who will develop bronchopulmonary dysplasia. The higher rate of patent ductus arteriosus and indomethacin use may influence these differences. Serum levels of calcium also appear to play a role in spontaneous ductus arteriosus closure. PMID:20668623

  12. Cardiac sarcoidosis mimicking right ventricular dysplasia.

    PubMed

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

    2003-02-01

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

  13. Thanatophoric dysplasia. A report of three cases.

    PubMed

    Sundkvist, L

    1983-09-01

    Thanatophoric dysplasia is an osteochondrodysplasia always lethal already in the neonatal period. Three cases, showing the characteristic X-ray picture of the disease, are described. Histopathologically, an abnormality in the endochondral ossification process was observed. In sections from tubular bones the growth zone was found to be irregular with deficient chondrocyte maturation, absence of orderly chondrocyte columns, and the development of coarse bone trabeculae. Moreover, prominent subperiostal bone formation could be demonstrated. A constant finding was also a fibrous band, continuous with the periosteum/perichondrium, and extending into the growth zone. From this fibrous tissue membranous bone formation, directed towards the metaphysis and appearing to add to bone length, was observed. It seems as if direct bone formation predominates in thanatophoric dysplasia.

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

    PubMed

    Macpherson, R I; Wood, B P

    1980-07-01

    Spondyloepiphyseal dysplasia congenita is a form of primary short dwarfism, that is manifest at birth generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. PMID:6773018

  15. [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.

  16. Newer Imaging Techniques for Bronchopulmonary Dysplasia.

    PubMed

    Walkup, Laura L; Woods, Jason C

    2015-12-01

    Imaging has played a vital role in the clinical assessment of bronchopulmonary dysplasia (BPD) since its first recognition. In this review, how chest radiograph, computerized tomography (CT), nuclear medicine, and MRI have contributed to the understanding of BPD pathology and how emerging advancements in these methods, including low-dose and quantitative CT, sophisticated proton and hyperpolarized-gas MRI, influence the future of BPD imaging are discussed. PMID:26593084

  17. New approach to the treatment of adolescent hip dysplasia.

    PubMed

    Huang, Shibo; Zhao, Dewei; Yang, Lei

    2013-07-01

    Hip dysplasia refers to the acetabular or femoral head shape and size and the relationships among their unusual growth; the most common types are acetabular hypogenesis and head mortar containing extraordinarily. The cause of disease is still not clear. There is a lack of unified classification standards and clinical diagnosis criteria. The main pathological change is the performance of the above of acetabular and the frontal defects. The acetabular bone is transferred to the hip center, which reduces femoral head acetabular tolerance and causes insufficient coverage. DDH (Developmental Dysplasia of Hip) may be associated with different degrees of hip subluxation, the acetabular bone becomes lighter and the hip joint capsule around the relaxation is the main cause of dislocation [1]. The patients with DDH and relationship have an involuted femoral articular surface, with abnormal relations. This can lead to articular cartilage degeneration, and cause osteoarthritis, which has a serious influence on patients' mental health and quality of life [2]. Therefore, the acetabular malformation must be corrected. This is performed by renewing the stability of articulation and decreasing the abnormal joint stress by the research and application. Nowadays, there is a simple operation based on the acetabular technique, the description of the three places: steel ilium osteotomies acetabular, joint capsule osteotomies around, Pemberton's description of the joint capsule around ilium osteotomies, etc. In particular, each has their respective advantages with regard to the operation method. However, complex, surgical trauma surgery methods also exist; nevertheless, pelvic change is heavy, the graft will not last as long, and may also be absorbed, among other shortcomings. In this report we use the lateral femoral screw with belt/vascular pedicle flap transfer of the ilium acetabular in the treatment of adolescent hip dysplasia, using a method that is different from other current

  18. Histopathology in Barrett Esophagus and Barrett Esophagus-Related Dysplasia

    PubMed Central

    Grin, Andrea

    2014-01-01

    Pathologic specimens, both biopsies and endoscopic mucosal resections, for Barrett esophagus and Barrett-associated dysplasia and malignancy are common for pathologists in North America, and the incidence in South Asian countries seems to be increasing. Dysplasia and malignancy arising in intestinalized gastric-type mucosa raises issues in the interpretation of dysplasia and the evaluation of the depth of invasion of malignancies that are not seen in squamous dysplasia and squamous cell carcinoma. We review the North American approach to these lesions. PMID:24570881

  19. 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

  20. Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.

    PubMed

    de La Dure-Molla, Muriel; Philippe Fournier, Benjamin; Berdal, Ariane

    2015-04-01

    Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered dentin structure. Dentin extra cellular matrix is composed of 90% of collagen type I and 10% of non-collagenous proteins among which dentin sialoprotein (DSP), dentin glycoprotein (DGP) and dentin phosphoprotein (DPP) are crucial in dentinogenesis. These proteins are encoded by a single gene: dentin sialophosphoprotein (DSPP) and undergo several post-translational modifications such as glycosylation and phosphorylation to contribute and to control mineralization. Human mutations of this DSPP gene are responsible for three isolated dentinal diseases classified by Shield in 1973: type II and III dentinogenesis imperfecta and type II dentin dysplasia. Shield classification was based on clinical phenotypes observed in patient. Genetics results show now that these three diseases are a severity variation of the same pathology. So this review aims to revise and to propose a new classification of the isolated forms of DI to simplify diagnosis for practitioners.

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

    PubMed Central

    Vaishya, Raju; Gupta, Nishint; Vijay, Vipul

    2016-01-01

    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. PMID:26918216

  2. 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

  3. Single-stage medial open reduction and Pemberton acetabuloplasty in developmental dysplasia of the hip

    PubMed Central

    Baki, Celal; Aydin, Hafiz; Ari, Bünyamin; Özcan, Murat

    2016-01-01

    In this study, we aimed to evaluate the long-term clinical and radiological results of single-stage open reduction through a medial approach and Pemberton acetabuloplasty in developmental dysplasia of the hip. We treated 32 hips (22 patients) with developmental dysplasia by a single-stage open reduction through Ferguson’s medial approach and Pemberton acetabuloplasty. The procedure was performed bilaterally in 10 patients. The mean age of the patients at the time of the operation was 19.8 months (16–24 months). The mean follow-up period was 10.9 years (7–19 years). Group I avascular necrosis according to the Kalamchi and MacEwen classification was observed in two hips and group II in one hip. Radiologically, 90.6% of the hips were classified as Severin class I and 9.4% of the hips were classified as Severin class II. At the latest follow-up, 30 hips were assessed clinically as excellent and two hips as good. No patient required subsequent surgery. We conclude that single-stage medial open reduction and Pemberton acetabuloplasty represent an effective method for developmental dysplasia of the hip in children older than 15 months of age. PMID:27379670

  4. 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

  5. Role of the vaginal microbiological ecosystem and cytokine profile in the promotion of cervical dysplasia: a case-control study.

    PubMed Central

    Behbakht, Kian; Friedman, Jennifer; Heimler, Ira; Aroutcheva, Alla; Simoes, Jose; Faro, Sebastian

    2002-01-01

    OBJECTIVE: To identify alterations in the cytokine profile and microbial ecosystem of the vagina in association with cervical dysplasia. METHODS: Demographics, lifestyle variables and Papanicolau (Pap) smear results of subjects presenting to the same site for gynecologic complaints, obstetric visits or colposcopy were prospectively recorded. Vaginal smear for Gram stain, aerobic and anaerobic culture, pH, and wet mount and KOH examination for Trichomonas vaginalis, Gardnerella vaginalis and yeast organisms were performed. Vaginal lavage specimens were centrifuged, and the pellets and supernatants were assayed for human papillomavirus (HPV) by polymerase chain reaction and for cytokines interleukin (IL)-1beta IL-6, IL-10 and IL-12 by enzyme-linked immunosorbent assay (ELISA) respectively. Subjects with abnormal Pap smears underwent colposcopy and biopsy as indicated. RESULTS: Of 51 patients, 32 were referred for colposcopy, 12 presented with gynecologic needs, and seven presented for obstetric visits. Median age was 24 years. Demographics did not differ significantly between the dysplasia and control groups except for a trend towards more sexual partners in the dysplasia group. Biopsies were performed in 81% (26/32) of patients presenting for colposcopy and 17 revealed cervical intraepithelial neoplasia. IL-1beta, IL-6, IL-10, and IL-12 levels were elevated in 63% (20/32), 38% (15/39), 4% (2/49), and 0% of samples respectively. Elevated vaginal lavage IL-1beta was associated with a 6.1 odds ratio (95% confidence interval 1.06-35) of cervical dysplasia. Alterations in other variables studied were not associated with cervical dysplasia. CONCLUSIONS: Elevated IL-1beta, possibly representing a complex host inflammatory response to multiple pathogens, was demonstrated in patients with cervical dysplasia. PMID:12648311

  6. 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

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

    PubMed

    Chen, Min; Shang, Xi-Fu

    2016-05-01

    Developmental dysplasia of the hip (DDH) is a spectrum of disorders that results in anatomic abnormalities leading to increased contact stress in the joint and, eventually, secondary osteoarthritis. However, many patients with DDH become symptomatic before the severe degenerative changes of the hip because of abnormal hip biomechanics, mild hip instability, impingement, or associated intra-articular pathology. Early diagnosis and appropriate treatment for DDH are of the utmost importance. With the modification of techniques like pelvic osteotomy and capsular arthroplasty, and the introduction of intracapsular procedures such as arthroscopy and femoral head-neck junction osteochondroplasty, many young patients with symptomatic hip dysplasia may benefit from joint preservation procedures. We review the current development of these concepts and the associated surgical techniques. PMID:26216530

  8. Maxillonasal dysplasia (Binder's syndrome) and its treatment with costal cartilage graft: A follow-up study

    PubMed Central

    Bhatt, Yogesh C.; Vyas, Kinnari A.; Tandale, Mangesh S.; Panse, Nikhil S.; Bakshi, Harpreet S.; Srivastava, Rajat K.

    2008-01-01

    Maxillonasal dysplasia or Binder's syndrome is an uncommon congenital condition characterized by a retruded mid-face with an extremely flat nose. We report here six patients with maxillonasal dysplasia whose noses were corrected with onlay costal cartilage grafts using a combined oral vestibular and external rhinoplasty approach for nasal dorsal augmentation, columellar lengthening, and premaxillary augmentation. The cartilage graft was dipped in a solution of 100 ml 0.9% NaCl and one vial (80mg) gentamicin for 30 min to prevent warping. L struts made for nasal augmentation, columellar lengthening, and premaxillary augmentation were fixed to one another by slots made in the graft. This technique has been used in children, adults, and for secondary cases with promising results. All patients were of class I dental occlusion. The nasal and premaxillary augmentation which was monitored by serial photography was found to be stable over a follow-up period of three years. PMID:19753255

  9. Cytopenia and Bone Marrow Dysplasia in a Case of Wilson's Disease.

    PubMed

    Rau, Aarathi R; Usha, M; Mallya, Pooja; Rau, A T K

    2014-09-01

    We describe a sixteen year old with Wilson's disease on copper chelation and subsequent high dose oral zinc who developed severe anemia and neutropenia. Bone marrow aspirate done to evaluate the cause of bicytopenia revealed trilineage dysplasia. Correlating the clinical context with bone marrow and biochemical parameters, copper deficiency was suspected and he was given a trial of therapy, following which the hematological parameters improved. This case highlights hypocupremia as a reversible cause of bone marrow dysplasia in patients with Wilson's disease on chelation, where serum copper levels are not useful in the diagnosis. We also believe that monitoring of the blood counts in patients on copper chelation may provide a clue to impending copper deficiency.

  10. 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.

  11. 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

  12. 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

  13. 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. |

  14. 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.

  15. Predictors of Progression to High-Grade Dysplasia or Adenocarcinoma in Barrett's Esophagus.

    PubMed

    Whitson, Matthew J; Falk, Gary W

    2015-06-01

    The prevalence of esophageal adenocarcinoma is increasing dramatically. Barrett's esophagus remains the most well-established risk factor for the development of esophageal adenocarcinoma. There are multiple clinical, endoscopic, and pathologic factors that increase the risk of neoplastic progression to high-grade dysplasia or esophageal adenocarcinoma in Barrett's esophagus. This article reviews both risk and protective factors for neoplastic progression in patients with Barrett's esophagus.

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

    PubMed

    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.

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

    PubMed

    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

  18. 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.

  19. 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

  20. Barrett's esophagus: management of high-grade dysplasia and cancer.

    PubMed

    Ruol, Alberto; Zaninotto, Giovanni; Costantini, Mario; Battaglia, Giorgio; Cagol, Matteo; Alfieri, Rita; Epifani, Magdalena; Ancona, Ermanno

    2004-03-01

    Esophagectomy remains the treatment of choice for the appropriate patient with Barrett's adenocarcinoma invading beyond the mucosa, without evidence of distant metastasis or invasion of adjacent organs. On the other hand, therapeutic management of patients with Barrett's high-grade dysplasia (HGD) or mucosal adenocarcinoma should be individualized, taking into account the patient's preferences, willingness to return for frequent endoscopic biopsies, and medical fitness to undergo esophagectomy. Surgery has to be considered the best treatment for HGD or superficial carcinoma, unless contraindicated by severe comorbidities, because it has proven to be the only treatment that is successful in curing the condition and preventing recurrent HGD or the development of invasive cancer. Nonsurgical treatment by photodynamic therapy or endoscopic mucosal resection may be a less invasive and organ-sparing option for elderly, poor-risk patients but it is still to be considered an investigational therapy that should only be conducted under a clinical trial protocol. Finally, intensive endoscopic biopsy surveillance of patients with HGD is another investigational option that may allow prompt treatment of cancer if it develops. However, few data document the safety of this observational approach. PMID:15013713

  1. Reduced DOCK4 expression leads to erythroid dysplasia in myelodysplastic syndromes

    PubMed Central

    Sundaravel, Sriram; Duggan, Ryan; Bhagat, Tushar; Ebenezer, David L.; Liu, Hui; Yu, Yiting; Bartenstein, Matthias; Unnikrishnan, Madhu; Karmakar, Subhradip; Liu, Ting-Chun; Torregroza, Ingrid; Quenon, Thomas; Anastasi, John; McGraw, Kathy L.; Pellagatti, Andrea; Boultwood, Jacqueline; Yajnik, Vijay; Artz, Andrew; Le Beau, Michelle M.; Steidl, Ulrich; List, Alan F.; Evans, Todd; Verma, Amit; Wickrema, Amittha

    2015-01-01

    Anemia is the predominant clinical manifestation of myelodysplastic syndromes (MDS). Loss or deletion of chromosome 7 is commonly seen in MDS and leads to a poor prognosis. However, the identity of functionally relevant, dysplasia-causing, genes on 7q remains unclear. Dedicator of cytokinesis 4 (DOCK4) is a GTPase exchange factor, and its gene maps to the commonly deleted 7q region. We demonstrate that DOCK4 is underexpressed in MDS bone marrow samples and that the reduced expression is associated with decreased overall survival in patients. We show that depletion of DOCK4 levels leads to erythroid cells with dysplastic morphology both in vivo and in vitro. We established a novel single-cell assay to quantify disrupted F-actin filament network in erythroblasts and demonstrate that reduced expression of DOCK4 leads to disruption of the actin filaments, resulting in erythroid dysplasia that phenocopies the red blood cell (RBC) defects seen in samples from MDS patients. Reexpression of DOCK4 in −7q MDS patient erythroblasts resulted in significant erythropoietic improvements. Mechanisms underlying F-actin disruption revealed that DOCK4 knockdown reduces ras-related C3 botulinum toxin substrate 1 (RAC1) GTPase activation, leading to increased phosphorylation of the actin-stabilizing protein ADDUCIN in MDS samples. These data identify DOCK4 as a putative 7q gene whose reduced expression can lead to erythroid dysplasia. PMID:26578796

  2. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

    PubMed

    Superti-Furga, A; Neumann, L; Riebel, T; Eich, G; Steinmann, B; Spranger, J; Kunze, J

    1999-08-01

    We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring. Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus. PMID:10465113

  3. Prevention of hip dysplasia in children and adults.

    PubMed

    Price, Charles T; Ramo, Brandon A

    2012-07-01

    Klisic and Pajic summarized the history of early diagnosis and treatment of hip dysplasia when they wrote, Devising the preventive approach to developmental dysplasia of the hip (DDH) required much time.... Despite the 2400-year-old suggestion made by Hippocrates that children's hip dislocations are curable if treatment is started very early, the preventive approach was proposed by Roser only in 1879 [who] described early diagnosis in newborns and performed reduction by abduction... He also advocated early treatment by fixing babies' hips in abduction. However, surgeons did not readily accept these proposals, despite the good results shown by Froelich in 1906 and Le Damany in 1911. In 1927, Putti succeeded in interesting some orthopedic surgeons in the procedure by showing the results of early treatment. But the practical problem remained: ie, how to detect the DDH in patients at an early age. The turning point came in 1935 when pediatrician Ortolani introduced early detection of DDH by “early clinical search” shortly after a child's birth, instructing obstetricians, pediatricians, and midwives to perform the search. Rediscovering the diagnostic “segno della scatto,” ie, reducible displacement, he popularized the prophylactic approach to DDH by early detection and treatment. Fifteen years later, another pediatrician, Palmen, organized systematic screening in nurseries by pediatricians. Since Klisic and Pajic wrote this in 1993, the use of ultrasound, albeit still controversial in some ways, has influenced the treatment and prevention of DDH. Klisic's attempts to universally prevent the disease may still be able to be incorporated into further efforts at disease prevention through education and the systematic trials of hip abduction pillows or braces similar to his wide-diaper diapering technique. The goal of prevention is to eradicate a disease so that it does not present to the physician. For DDH, this goal may be tenable. PMID:22819156

  4. 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. PMID:15669467

  5. [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.

  6. 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.

  7. Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.

    PubMed

    Duong, Hannah A; Le, Karen T; Soulema, Albert L; Yueh, Ronald H; Scheuner, Maren T; Holick, Michael F; Christensen, Russell; Tajima, Tracey L; Leung, Angela M; Mallya, Sanjay M

    2016-05-01

    Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia of the jaws, bone fragility, and diaphyseal cortical thickening and bowing of long bones. We present a family with previously undiagnosed GDD. The disorder was identified by the characteristic gnathic and skeletal manifestations in the father. Clinical and radiologic examination of the patient's son also revealed the characteristic features of GDD. Gene sequencing revealed a novel mutation (c. 1067 G>A, p. Cys356 Tyr) in the ANO5 gene, which is causative for GDD. This mutation was predicted to be detrimental by computational analyses and by structural modeling of the protein. The implications for recognition and management of this disease are discussed. PMID:27068316

  8. 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.

  9. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

    PubMed Central

    Ikegawa, S; Nishimura, G; Nagai, T; Hasegawa, T; Ohashi, H; Nakamura, Y

    1998-01-01

    Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. The genetic etiology of SMD is currently unknown; however, the type X collagen gene (COL10A1) is considered an excellent candidate, for two reasons: first, Schmid metaphyseal chondrodysplasia, a condition known to result from COL10A1 mutations, shows a significant phenotypic overlap with SMD; and, second, transgenic mice carrying deletions in type X collagen show SMD phenotypes. Hence, we examined the entire coding region of COL10A1 by direct sequencing of DNA from five unrelated patients with SMD and found a heterozygous missense mutation (Gly595Glu) cosegregating with the disease phenotype in one SMD family. This initial documented identification of a mutation in SMD expands our knowledge concerning the range of the pathological phenotypes that can be produced by aberrations of type X collagen (type X collagenopathy). PMID:9837818

  10. Florid cemento-osseous dysplasia mimicking apical periodontitis: A case report.

    PubMed

    Rekabi, Ali Reza; Ashouri, Rezvan; Torabi, Molok; Parirokh, Masoud; Abbott, Paul V

    2013-12-01

    Cemento-osseous dysplasia may present as a focal, periapical or florid lesion in the mandible or maxilla. The lesion may sometimes appear similar to peri-radicular lesions on a periapical radiograph. This report presents a case with irreversible pulpitis and root resorption as well as a mixed radiolucent/radiopaque lesion around a mandibular molar tooth root. Root canal treatment was performed and because of the radiographic signs of root resorption and the patient's fear of having a malignant disease, periapical surgery was also performed. The histopathology report confirmed the presence of florid cement-osseous dysplasia which was mimicking apical periodontitis. Follow-up radiography 12 months after the surgery illustrated complete healing of the radiolucent area. PMID:24279668

  11. 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

  12. Cemento-osseous dysplasia in an elderly Asian male: a case report.

    PubMed

    Komabayashi, Takashi; Zhu, Qiang

    2011-03-01

    Cemento-osseous dysplasia is a disorder typically found in middle-aged black women. However, the present report describes a case in a 61-year-old Vietnamese male. Without proper pulp testing and diagnosis, the radiographic presentation can easily be misdiagnosed as periapical periodontitis. On the basis of pulp vitality, lack of clinical symptoms and radiographic features, the diagnosis in this case was periapical cemento-osseous dysplasia at the mixed stage, which generally requires no treatment. At the 18-month follow-up, the patient was still asymptomatic and none of the clinical signs had changed. This case highlights the importance of careful clinical examination, including a pulp vitality test, and of having an unbiased view of age, gender, and ethnicity when diagnosing this condition.

  13. Florid cemento-osseous dysplasia mimicking apical periodontitis: A case report.

    PubMed

    Rekabi, Ali Reza; Ashouri, Rezvan; Torabi, Molok; Parirokh, Masoud; Abbott, Paul V

    2013-12-01

    Cemento-osseous dysplasia may present as a focal, periapical or florid lesion in the mandible or maxilla. The lesion may sometimes appear similar to peri-radicular lesions on a periapical radiograph. This report presents a case with irreversible pulpitis and root resorption as well as a mixed radiolucent/radiopaque lesion around a mandibular molar tooth root. Root canal treatment was performed and because of the radiographic signs of root resorption and the patient's fear of having a malignant disease, periapical surgery was also performed. The histopathology report confirmed the presence of florid cement-osseous dysplasia which was mimicking apical periodontitis. Follow-up radiography 12 months after the surgery illustrated complete healing of the radiolucent area.

  14. Fourier-domain angle-resolved low coherence interferometry for clinical detection of dysplasia

    NASA Astrophysics Data System (ADS)

    Terry, Neil G.; Zhu, Yizheng; Wax, Adam

    2010-02-01

    Improved methods for detecting dysplasia, or pre-cancerous growth are a current clinical need, particularly in the esophagus. The currently accepted method of random biopsy and histological analysis provides only a limited examination of tissue in question while being coupled with a long time delay for diagnosis. Light scattering spectroscopy, in contrast, allows for inspection of the cellular structure and organization of tissue in vivo. Fourier-domain angle-resolved low-coherence interferometry (a/LCI) is a novel light scattering spectroscopy technique that provides quantitative depth-resolved morphological measurements of the size and optical density of the examined cell nuclei, which are characteristic biomarkers of dysplasia. Previously, clinical viability of the a/LCI system was demonstrated through analysis of ex vivo human esophageal tissue in Barrett's esophagus patients using a portable a/LCI, as was the development of a clinical a/LCI system. Data indicating the feasibility of the technique in other organ sites (colon, oral cavity) will be presented. We present an adaptation of the a/LCI system that will be used to investigate the presence of dysplasia in vivo in Barrett's esophagus patients.

  15. A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.

    PubMed

    Karaer, Kadri; Rosti, Rasim Ozgür; Torun, Deniz; Sanal, Hatice Tuba; Bahçe, Muhterem; Güran, Sefik

    2011-01-01

    The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss. A 3.5-year-old girl born to consanguineous Turkish parents had characteristic facial features at birth: mid-face hypoplasia, mild hypertelorism, upslanting palpebral fissures, prominent supraorbital ridges, depressed nasal bridge, small upturned nasal tip, long philtrum, and micrognathia. Radiological examination at three years of age revealed large flaring metaphyses and wide flat epiphyses. The humerus and femur showed the characteristic dumbbell shape. She had bilateral hearing loss with no ophthalmologic findings. There is continuing debate over the clinical overlap and differential diagnosis of OSMED syndrome. The patient was examined considering Weissenbacher-Zweymuller, Stickler type 3, Marshall syndrome, and Kniest dysplasia as possible differential diagnoses. We believe that the presented patient clinically manifested features of OSMED syndrome. We would like to point out that the management of OSMED calls for a coordinated multidisciplinary approach. PMID:21980822

  16. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

    PubMed Central

    Nishiguchi, Koji M.; Fujita, Kosuke; Nakazawa, Toru; Alswaid, Abdulrahman; Albalwi, Mohammed A.; Kim, Ok-Hwa; Cho, Tae-Joon; Lim, Gye-Yeon; Isidor, Bertrand; David, Albert; Rustad, Cecilie F.; Merckoll, Else; Westvik, Jostein; Stattin, Eva-Lena; Grigelioniene, Giedre; Kou, Ikuyo; Nakajima, Masahiro; Ohashi, Hirohumi; Smithson, Sarah; Matsumoto, Naomichi; Nishimura, Gen; Ikegawa, Shiro

    2016-01-01

    Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations have been recently found to cause isolated retinal degeneration and Jeune syndrome. We found a total of five biallelic C21orf2 mutations in six families out of nine: three missense and two splicing mutations in patients with various ethnic backgrounds. The pathogenic effects of the splicing (splice-site and branch-point) mutations were confirmed on RNA level, which showed complex patterns of abnormal splicing. C21orf2 mutations presented with a wide range of skeletal phenotypes, including cupped and flared anterior ends of ribs, lacy ilia and metaphyseal dysplasia of proximal femora. Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation. C21orf2 protein was localized to the connecting cilium of the cone and rod photoreceptors, confirming its significance in retinal function. Our study indicates that axial SMD is a member of a unique group of ciliopathy affecting skeleton and retina. PMID:26974433

  17. Monostotic fibrous dysplasia involving occipital bone: a case report and review of literature

    PubMed Central

    Basaran, Recep; Kaksi, Mustafa; Gur, Erdal; Efendioglu, Mustafa; Balkuv, Ece; Sav, Aydin

    2014-01-01

    Fibrous dysplasia (FD) is a progressive systemic bone tumour of young and it can be seen on cranial bones. FD is divided into three types according to radiological features. The second most common subtype is polyostotic subtype. With this article, we aimed to review and present clinical features, radiological examination, differential diagnosis and treatment management of a case of solitary monostotic fibrous dysplasia of occipital bone. 15 years old female patient admitted to our hospital for a bump and in the back of his head that she noticed 1 month ago. Her physical and neurological examination was normal. On cranial CT examination we detected a bony defect. Her gadolinium enhanced cranial MRI revealed bony defect along with massive gadolinium enhancement in adjacent tissue. On histopathologic examination; PANCK, CD68, CD1a were found negative and CD45, S-100, Vimentine were found positive. Ki-67 was 4,8%. In conclusion, fibrous dysplasia is a progressive bone disease of the young patients. Despite its resemblance to a benign lesion by not being symptomatic it can progress and cause severe bony defects and skin lesions. Total surgical resection is necessary and sufficient for total treatment. PMID:25745531

  18. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

    PubMed

    Wang, Zheng; Iida, Aritoshi; Miyake, Noriko; Nishiguchi, Koji M; Fujita, Kosuke; Nakazawa, Toru; Alswaid, Abdulrahman; Albalwi, Mohammed A; Kim, Ok-Hwa; Cho, Tae-Joon; Lim, Gye-Yeon; Isidor, Bertrand; David, Albert; Rustad, Cecilie F; Merckoll, Else; Westvik, Jostein; Stattin, Eva-Lena; Grigelioniene, Giedre; Kou, Ikuyo; Nakajima, Masahiro; Ohashi, Hirohumi; Smithson, Sarah; Matsumoto, Naomichi; Nishimura, Gen; Ikegawa, Shiro

    2016-01-01

    Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations have been recently found to cause isolated retinal degeneration and Jeune syndrome. We found a total of five biallelic C21orf2 mutations in six families out of nine: three missense and two splicing mutations in patients with various ethnic backgrounds. The pathogenic effects of the splicing (splice-site and branch-point) mutations were confirmed on RNA level, which showed complex patterns of abnormal splicing. C21orf2 mutations presented with a wide range of skeletal phenotypes, including cupped and flared anterior ends of ribs, lacy ilia and metaphyseal dysplasia of proximal femora. Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation. C21orf2 protein was localized to the connecting cilium of the cone and rod photoreceptors, confirming its significance in retinal function. Our study indicates that axial SMD is a member of a unique group of ciliopathy affecting skeleton and retina. PMID:26974433

  19. Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

    PubMed

    Simon, Marleen; Campos-Xavier, Ana Belinda; Mittaz-Crettol, Lauréane; Valadares, Eugenia Ribeiro; Carvalho, Daniel; Speck-Martins, Carlos Eduardo; Nampoothiri, Sheela; Alanay, Yasemin; Mihci, Ercan; van Bever, Yolande; Garcia-Segarra, Nuria; Cavalcanti, Denise; Mortier, Geert; Bonafé, Luisa; Superti-Furga, Andrea

    2012-08-15

    Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD; OMIM 613330) is a dysostosis/dysplasia caused by recessive mutations in the homeobox-containing gene, NKX3-2 (formerly known as BAPX1). Because of the rarity of the condition, its diagnostic features and natural course are not well known. We describe clinical and radiographic findings in six patients (five of which with homozygous mutations in the NKX3-2 gene) and highlight the unusual and severe changes in the cervical spine and the neurologic complications. In individuals with SMMD, the trunk and the neck are short, while the limbs, fingers and toes are disproportionately long. Radiographs show a severe ossification delay of the vertebral bodies with sagittal and coronal clefts, missing ossification of the pubic bones, large round "balloon-like" epiphyses of the long bones, and presence of multiple pseudoepiphyses at all metacarpals and phalanges. Reduced or absent ossification of the cervical vertebrae leads to cervical instability with anterior or posterior kinking of the cervical spine (swan neck-like deformity, kyknodysostosis). As a result of the cervical spine instability or deformation, five of six patients in our series suffered cervical cord injury that manifested clinically as limb spasticity. Although the number of individuals observed is small, the high incidence of cervical spine deformation in SMMD is unique among skeletal dysplasias. Early diagnosis of SMMD by recognition of the radiographic pattern might prevent of the neurologic complications via prophylactic cervical spine stabilization. PMID:22791571

  20. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

    PubMed

    Wang, Zheng; Iida, Aritoshi; Miyake, Noriko; Nishiguchi, Koji M; Fujita, Kosuke; Nakazawa, Toru; Alswaid, Abdulrahman; Albalwi, Mohammed A; Kim, Ok-Hwa; Cho, Tae-Joon; Lim, Gye-Yeon; Isidor, Bertrand; David, Albert; Rustad, Cecilie F; Merckoll, Else; Westvik, Jostein; Stattin, Eva-Lena; Grigelioniene, Giedre; Kou, Ikuyo; Nakajima, Masahiro; Ohashi, Hirohumi; Smithson, Sarah; Matsumoto, Naomichi; Nishimura, Gen; Ikegawa, Shiro

    2016-01-01

    Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations have been recently found to cause isolated retinal degeneration and Jeune syndrome. We found a total of five biallelic C21orf2 mutations in six families out of nine: three missense and two splicing mutations in patients with various ethnic backgrounds. The pathogenic effects of the splicing (splice-site and branch-point) mutations were confirmed on RNA level, which showed complex patterns of abnormal splicing. C21orf2 mutations presented with a wide range of skeletal phenotypes, including cupped and flared anterior ends of ribs, lacy ilia and metaphyseal dysplasia of proximal femora. Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation. C21orf2 protein was localized to the connecting cilium of the cone and rod photoreceptors, confirming its significance in retinal function. Our study indicates that axial SMD is a member of a unique group of ciliopathy affecting skeleton and retina.

  1. 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

  2. Nucleic acid-sensing toll-like receptors 3, 7 and 8 in esophageal epithelium, barrett's esophagus, dysplasia and adenocarcinoma.

    PubMed

    Helminen, Olli; Huhta, Heikki; Lehenkari, Petri P; Saarnio, Juha; Karttunen, Tuomo J; Kauppila, Joonas H

    2016-05-01

    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

  3. Untreated acetabular dysplasia of the hip in the Navajo. A 34 year case series followup.

    PubMed

    Schwend, R M; Pratt, W B; Fultz, J

    1999-07-01

    Patients born in the Many Farms District of the Navajo Indian Reservation from 1955 to 1961 were studied. Five hundred forty-eight of the 628 infants born (87%) received clinical examinations and pelvic radiographs at some time during the first 4 years of their lives. Eighteen (3.3%) of the 548 infants examined had acetabular dysplasia. Because of traditional cultural beliefs, none of these children received medical treatment. Followup evaluations and radiographs were obtained in these 18 patients during early adolescence. In 10 of the original 18 patients followup evaluations and radiographs were obtained at an average age of 35 years. None of the dysplastic hips progressed to frank dislocation. The mean center edge angle improved from 7 degrees when the patients were 1 year of age, to 29 degrees when the patients were 12 years of age, to 30 degrees when the patients were 35 years of age. Despite overall improvement of hip measurements with maturity, eight hips in five of the 10 patients who were in their fourth decade of life and who were available for examination, had radiographic evidence of residual abnormalities. The hips in patients with subluxation during infancy were less likely to be normal as adults. The results of this 34-year followup study of untreated developmental hip dysplasia showed marked radiographic improvement in all patients during childhood; however, subtle abnormalities persisted in the radiographs of 40% of the hips. PMID:10416399

  4. Efficiency and Accuracy of Bernese Periacetabular Osteotomy for Adult Hip Dysplasia

    PubMed Central

    Luo, Dian‐zhong; Xiao, Kai; Cheng, Hui

    2015-01-01

    Bernese periacetabular osteotomy (PAO) has several advantages dealing with adolescents and adults acetabular dysplasia. The authors introduced the details and steps performing PAO, with attached video and schematic diagram which demonstrates a perfect PAO in efficiency and accuracy. The patient is an 18‐year‐old girl, complaining hip pain on the left side for 6 months. Physical examination shows normal gait and range of motion (ROM) of the left hip. Pelvic anteroposterior X‐ray shows acetabular dysplasia on the left, and post operation on the right. She is very satisfied with the PAO on the right one year before, so we recommend PAO for the left hip dysplasia again. The key point of PAO includes 4 cuts: ischial cut, pubic cut, acetabular roof cut, and quadrilateral bone cut, and the four cuts should be accomplished accurately. Then the acetabular fragment should be turned to ideal position with the lateral CE angle (LCE) > 25°, the Tönnis acetabular angle 0°, the anterior CE angle (ACE) > 20°, good congruence joint space, and with the hip center medialized slightly. At lastly the acetabular fragment is fixed with proper nails and instruments. The patient is very happy to the surgery with no hip pain, with normal gait, ROM, and Harris hip scores (HHS). In summary, PAO is a relative new and efficient procedure for adult hip dysplasia, requiring accurate techniques. Cadaveric practice and familiar with the local anatomy can help the surgeon overcome the learning curve quickly. PMID:26791326

  5. Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210

    PubMed Central

    Smits, Patrick; Bolton, Andrew D.; Funari, Vincent; Hong, Minh; Boyden, Eric D.; Lu, Lei; Manning, Danielle K.; Dwyer, Noelle D.; Moran, Jennifer L.; Prysak, Mary; Merriman, Barry; Nelson, Stanley F.; Bonafé, Luisa; Superti-Furga, Andrea; Ikegawa, Shiro; Krakow, Deborah; Cohn, Daniel H.; Kirchhausen, Tom; Warman, Matthew L.; Beier, David R.

    2011-01-01

    BACKGROUND Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into biologic processes and their role in human disease. METHODS We screened mutagenized mice and observed a neonatal lethal skeletal dysplasia with an autosomal recessive pattern of inheritance. Through genetic mapping and positional cloning, we identified the causative mutation. RESULTS Affected mice had a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210); the affected mice lacked this protein. Golgi architecture was disturbed in multiple tissues, including cartilage. Skeletal development was severely impaired, with chondrocytes showing swelling and stress in the endoplasmic reticulum, abnormal cellular differentiation, and increased cell death. Golgi-mediated glycosylation events were altered in fibroblasts and chondrocytes lacking GMAP-210, and these chondrocytes had intracellular accumulation of perlecan, an extracellular matrix protein, but not of type II collagen or aggrecan, two other extracellular matrix proteins. The similarities between the skeletal and cellular phenotypes in these mice and those in patients with achondrogenesis type 1A, a neonatal lethal form of skeletal dysplasia in humans, suggested that achondrogenesis type 1A may be caused by GMAP-210 deficiency. Sequence analysis revealed loss-of-function mutations in the 10 unrelated patients with achondrogenesis type 1A whom we studied. CONCLUSIONS GMAP-210 is required for the efficient glycosylation and cellular transport of multiple proteins. The identification of a mutation affecting GMAP-210 in mice, and then in humans, as the cause of a lethal skeletal dysplasia underscores the value of screening for abnormal phenotypes in model organisms and identifying the causative mutations. PMID:20089971

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

    PubMed

    Serra, Stefano; Chetty, Runjan

    2014-10-01

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

  7. 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

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

    PubMed

    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.

  9. Familial Fibrocystic Pulmonary Dysplasia: A Detailed Family Study

    PubMed Central

    Adelman, A. G.; Chertkow, G.; Hayton, R. C.

    1966-01-01

    Six cases of familial fibrocystic pulmonary dysplasia are described involving five siblings and their father. The clinical findings and radiological features were similar in all six patients although there was some variation in the period of survival following the onset of the disease. In three the diagnosis was confirmed pathologically; the two brothers, who did not have lung biopsies, had disturbances in respiratory function which are considered typical of the impaired diffusion produced by interstitial fibrosis. One hundred and five members of the family were surveyed for evidence of this disease, but no further cases were discovered. Four of the patients had some elevation of their gamma globulin. Immunoelectrophoretic analysis, which was performed on three of the patients, the two healthy siblings, and 16 of their offspring, showed elevated immunoglobulin patterns. This evidence suggests the possibility of an inherited aberration in the immune response in this family. ImagesFig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9Fig. 10Fig. 11 PMID:5912179

  10. Risk factors affecting the Barrett's metaplasia-dysplasia-neoplasia sequence

    PubMed Central

    Brown, Craig S; Ujiki, Michael B

    2015-01-01

    Esophageal adenocarcinoma has the fastest growing incidence rate of any cancer in the United States, and currently carries a very poor prognosis with 5 years relative survival rates of less than 15%. Current curative treatment options are limited to esophagectomy, a procedure that suffers from high complication rates and high mortality rates. Metaplasia of the esophageal epithelium, a condition known as Barrett’s esophagus (BE), is widely accepted as the precursor lesion for adenocarcinoma of the esophagus. Recently, radio-frequency ablation has been shown to be an effective method to treat BE, although there is disagreement as to whether radio-frequency ablation should be used to treat all patients with BE or whether treatment should be reserved for those at high risk for progressing to esophageal adenocarcinoma while continuing to endoscopically survey those with low risk. Recent research has been targeted towards identifying those at greater risk for progression to esophageal adenocarcinoma so that radio-frequency ablation therapy can be used in a more targeted manner, decreasing the total health care cost as well as improving patient outcomes. This review discusses the current state of the literature regarding risk factors for progression from BE through dysplasia to esophageal adenocarcinoma, as well as the current need for an integrated scoring tool or risk stratification system capable of differentiating those patients at highest risk of progression in order to target these endoluminal therapies. PMID:25992184

  11. Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.

    PubMed

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

    1997-09-15

    Mutations in the diastrophic dysplasia sulfate transporter gene cause a family of chondrodysplasias including, in order of increasing severity, diastrophic dysplasia, atelosteogenesis type 2 and achondrogenesis type 1B. McAlister dysplasia is a lethal chondrodysplasia considered on the basis of minor radiographic features to be a disorder different from atelosteogenesis type 2. Here, we demonstrate that McAlister dysplasia arises from mutations in the diastrophic dysplasia sulfate transporter gene and that this disorder essentially coincides on molecular and biochemical grounds with atelosteogenesis type 2. The fetus affected by McAlister dysplasia we have studied is a compound heterozygote for mutations leading to R279W and N425D substitutions in the diastrophic dysplasia sulfate transporter. Proteoglycan sulfation was studied in epiphyseal cartilage and in chondrocyte cultures of the patient by high performance liquid chromatography of chondrotinase digested proteoglycans; a high amount of non-sulfated disaccharide was observed as a consequence of the alteration of the transporter function caused by the mutations. However, sulfated disaccharides were detectable even if in low amounts, both in cultured cells and tissue. Functional impairment of the sulfate transporter was demonstrated in vitro by reduced incorporation of [35S]sulfate relative to [3H]glucosamine in proteoglycans synthesized by chondrocytes and by sulfate-uptake assays in fibroblasts. Parallel in vitro studies in a patient with achondrogenesis 1B indicated that the severity of the clinical phenotype seems to be correlated to the residual activity of the sulfate transporter. The capacity of fibroblasts to use cysteine as an alternative source of sulfate was evaluated by double-labeling experiments. Relative incorporation of [35S]cysteine-derived sulfate in the glycosaminoglycan chains was increased in the patient's cells, indicating that, in vitro, the catabolism of sulfur-containing amino acids can

  12. 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

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

    PubMed Central

    Fries, C L; Remedios, A M

    1995-01-01

    Hip dysplasia is a common developmental problem affecting the canine population. Despite extensive research into the condition, many questions remain unanswered and numerous misconceptions are present among the general public. The purpose of this paper is to review the current knowledge on the development of hip dysplasia, factors modifying its development, and current diagnostic techniques. A computerized literature search was conducted for the period of January 1983 to April 1985 using the MEDLINE and CAB databases, and the keywords hip dysplasia, hip, dog, and canine. Other articles, wherever possible original research articles, published before 1983 were also reviewed. Animals affected by hip dysplasia are born with normal hips, but quickly develop subluxation of the femoral head. Degenerative joint disease follows. Hip dysplasia is a complex, inherited, polygenic trait. Selective breeding of only normal dogs with normal littermates, parents, and grandparents is the recommended method of reducing the incidence in the general population. Gene expression in affected individuals may be modified by a number of environmental factors. These factors do not cause hip dysplasia, but they alter manifestations of the trait and its severity. Nutrition is a major environmental factor. Excess energy consumption increases the frequency and severity of hip dysplasia in genetically predisposed dogs. Food intake should be regulated to maintain a slender figure with the ribs and dorsal vertebral spines easily palpable, but not visible. Excess dietary calcium and vitamin D contribute to hip dysplasia in genetically predisposed individuals and should be avoided. High dose vitamin C supplementation in growing puppies does not prevent hip dysplasia, and this practice should be discontinued.(ABSTRACT TRUNCATED AT 250 WORDS) Images Figure 1. Figure 2. Figure 3. PMID:7585436

  14. Fetal biometry of skeletal dysplasias: a multicentric study.

    PubMed

    Goncalves, L; Jeanty, P

    1994-10-01

    Twenty-three diagnostic centers worldwide contributed 127 cases of 17 skeletal dysplasias. Discriminant analysis showed that the femur length was the best biometric parameter to distinguish among the five most common disorders in this series (thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, achondroplasia and hypochondroplasia). Fifty-four percent of fetuses with femur length below 30% of the mean for gestational age had achondrogenesis. Seventy-eight percent of measurements between 40 and 60% of the mean for gestational age represented either thanatophoric dysplasia or osteogenesis imperfecta type II. Fetuses who had over 80% of the mean for gestational age had predominantly hypochondroplasia, achondroplasia, and osteogenesis imperfecta type III. PMID:7880297

  15. Fetal biometry of skeletal dysplasias: a multicentric study.

    PubMed

    Goncalves, L; Jeanty, P

    1994-12-01

    Twenty-three diagnostic centers worldwide contributed 127 cases of 17 skeletal dysplasias. Discriminant analysis showed that the femur length was the best biometric parameter to distinguish among the five most common disorders in this series (thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, achondroplasia and hypochondroplasia). Fifty-four percent of fetuses with femur length below 30% of the mean for gestational age had achondrogenesis. Seventy-eight percent of measurements between 40 and 60% of the mean for gestational age represented either thanatophoric dysplasia or osteogenesis imperfecta type II. Fetuses who had over 80% of the mean for gestational age had predominantly hypochondroplasia, achondroplasia, and osteogenesis imperfecta type III. PMID:7877211

  16. 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. PMID:26908619

  17. 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

  18. 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

  19. Are consanguineous marriage and swaddling the risk factors of developmental dysplasia of the hip?

    PubMed

    Guner, Sukriye Ilkay; Guner, Savas; Peker, Erdal; Ceylan, Mehmet Fethi; Guler, Ayse; Turktas, Ugur; Kaki, Barıs

    2013-02-01

    The purpose of this study was to investigate prospectively the effects of swaddling and consanguineous marriage on developmental dysplasia of the hip and associated risk factors. We screened by ultrasound 265 infants using the Graf method. The Pediatrics Department referred all newborn infants with suspected instability or a recognized risk factor to the orthopedic clinic. Risk factors of developmental dysplasia of the hip were searched and noted in these patients. Swaddling and consanguineous marriage were also determined and noted. We observed 164 of 265 infants (61.9 %) who had been swaddled and that 64 of 265 infants' parents were in a consanguineous marriage (24.2 %). In the statistical analysis that was conducted for swaddling and consanguineous marriage, highly significant differences were found. Our study showed that the rate of developmental dysplasia of the hip is very high, 11.7 %, in our region, eastern Turkey. Also, we commonly see improper swaddling and consanguineous marriage in our region, which affects many infants.

  20. Clinical results of cementless total hip arthroplasty with shortening osteotomy for high dislocation with developmental dysplasia.

    PubMed

    Desteli, Engin Eren; Imren, Yunus; Tan, Erkan; Erdoğan, Murat; Özcan, Hüseyin

    2015-03-01

    Total hip arthroplasty for severe developmental dysplasia of the hip is a technically challenging procedure. Subtrochanteric femoral osteotomy enables reducing the femoral head and restoring abductor muscle strength without compromising proximal femoral bone stock in advanced dysplasia.We aimed to retrospectively evaluate Crowe type III or IV developmental dysplasia of the hip who underwent reconstruction with cementless total hip arthroplasty combined with a transverse subtrochanteric femoral osteotomy. Sixty hips of 52 patients (11 male, 49 female) with Crowe type III (n: 37) or IV (n: 23) developmental dysplasia of the hip were included. The average age was 51.4 years. Surgery was performed in lateral decubitis position with posterolateral approach. Subtrochanteric transverse femoral osteotomy were used with cementless components. 40 of the femoral components were Secur-Fit type, and 20 of them were secur-fit plus max type. Ceramic-ceramic coupling was used in 24 cases and metal-polyethylene coupling was used in 36 cases. Merle D'Aubigne and Harris Hip score were used to rate the clinical outcome at the final follow up. All femoral shortening osteotomies were united at a mean of 5.7 months. Mean Merle D'Aubigne pain score was increased from 3.1 to 5.4, and mean Harris Hip score improved from 39 to 92.8, postoperatively (p<0.01). There was no significant difference in time to union between different types of stems. 4 femoral stems had asymptomatic radiolucent lines. There was no significant difference in time to union between different types of stems. PMID:26280851

  1. Oblique wedge osteotomy for femoral diaphyseal deformity in fibrous dysplasia: a case report.

    PubMed

    Yamamoto, T; Hashimoto, Y; Mizuno, K

    2001-03-01

    A patient with fibrous dysplasia who had a three-dimensional diaphyseal deformity in the left femur was treated using an oblique wedge osteotomy. The patient was 26-year-old man with a history of two pathologic fractures in the midshaft of the femur. A 22 degrees angular deformity in the coronal plane and 15 degrees anterior bowing were corrected. The results at a followup 2 years after surgery were satisfactory in functional and radiologic terms. The technique and advantages of the oblique wedge osteotomy are discussed. PMID:11249172

  2. 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

  3. [Chylous reflux and chylous ascites in lymphatic dysplasia, with the lymphographic demonstration of mediastinal and retroperitoneal lymphatic cysts].

    PubMed

    Hermanutz, K D; Boldt, I; Frotscher, U

    1975-01-01

    Two patients with congenital dysplasia of the lymphatic system and with chylous ascites are described. In one 24-year old woman with this rare condition, it was possible to demonstrate for the first time numerous mediastinal lymphatic cysts during lymphangiography. Both patients showed an abnormality of the retroperitoneal lymphatics, consisting of lymphatic dilatation and cysts. In the investigation of chylous ascites, direct lymphangiography must be regarded as a valuable and necessary investigation.

  4. Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

    PubMed

    Krakow, Deborah; Cohn, Daniel H; Wilcox, William R; Noh, Grace J; Raffel, Leslie J; Sarukhanov, Anna; Ivanova, Margarita H; Danielpour, Moise; Grange, Dorothy K; Elliott, Alison M; Bernstein, Jonathan A; Rimoin, David L; Merrill, Amy E; Lachman, Ralph S

    2016-10-01

    Bent Bone Dysplasia-FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics. Here we report on 11 individuals, including the original four patients plus seven new individuals with three longer-term survivors. The prenatal phenotype included stillbirth, bending of the femora, and a high incidence of polyhydramnios, prematurity, and perinatal death in three of 11 patients in the series. The survivors presented with characteristic radiographic findings that were observed among those with lethality, including bent bones, distinctive (moustache-shaped) small clavicles, angel-shaped metacarpals and phalanges, poor mineralization of the calvarium, and craniosynostosis. Craniofacial abnormalities, hirsutism, hepatic abnormalities, and genitourinary abnormalities were noted as well. Longer-term survivors all needed ventilator support. Heterozygosity for mutations in the gene that encodes Fibroblast Growth Factor Receptor 2 (FGFR2) was identified in the nine individuals with available DNA. Description of these patients expands the prenatal and postnatal findings of Bent Bone Dysplasia-FGFR2 type and adds to the phenotypic spectrum among all FGFR2 disorders. © 2016 Wiley Periodicals, Inc. PMID:27240702

  5. Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes.

    PubMed

    Vinters, H V; Park, S H; Johnson, M W; Mischel, P S; Catania, M; Kerfoot, C

    1999-11-01

    Cortical dysplasia (CD) represents a common neuropathologic substrate of pediatric epilepsy, one frequently encountered in surgical resection specimens from infants and children with intractable seizure disorders, including infantile spasms. Severe CD shows similarities to structural features noted in tubers from individuals with tuberous sclerosis (TSC). The latter disorder, one with neurocutaneous and visceral manifestations, results from mutations in one of two recently cloned genes, TSC1 or TSC2, which encode (respectively) the proteins hamartin and tuberin. There is circumstantial evidence that both proteins may influence cell growth and differentiation, specifically that they may represent growth suppressors. Neither protein has a defined role in brain development. We discuss and illustrate neuropathologic features of both CD and TSC, and discuss the patterns and time course of hamartin/tuberin expression in normal brain, CD and TSC. Other recently cloned genes associated with cortical malformations encompassed by the term CD are briefly described. PMID:10575248

  6. Bronchopulmonary dysplasia - an overview about pathophysiologic concepts.

    PubMed

    Niedermaier, Sophie; Hilgendorff, Anne

    2015-12-01

    Neonatal chronic lung disease in the preterm infant, i.e. bronchopulmonary dysplasia (BPD) is characterized by impaired pulmonary development with its effects persisting into adulthood. Triggered in the immature lung by infectious complications, oxygen toxicity and the impact of mechanical ventilation, a sustained inflammatory response, extensive remodeling of the extracellular matrix, increased apoptosis as well as altered growth factor signaling characterize the disease. The current review focuses on selected pathophysiologic processes and their interplay in disease development. Furthermore, the potential of both, acute and long-term changes to the pulmonary scaffold and the cellular interface in concert with dysregulated growth factor signaling to affect aging and repair processes in the adult lung is discussed. PMID:26542292

  7. 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

  8. Coronary artery manifestations of fibromuscular dysplasia.

    PubMed

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

    2014-09-01

    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.

  9. Bronchopulmonary dysplasia – trends over three decades

    PubMed Central

    Zysman-Colman, Zofia; Tremblay, Genevieve M; Bandeali, Suhair; Landry, Jennifer S

    2013-01-01

    OBJECTIVES: To describe the characteristics of bronchopulmonary dysplasia (BPD) and respiratory distress syndrome subjects, along with the trends in severity and mortality associated with BPD over the past three decades. METHODS: Retrospective study of BPD and respiratory distress syndrome subjects born between 1980 and 2008, and admitted to Montreal Children’s Hospital (Montreal, Quebec). Data were abstracted from hospital records. RESULTS: Gestational age and birth weight were correlated with the occurrence of BPD with each additional week of gestation and 100 g in birth weight being associated with an OR of developing BPD of 0.77 and 0.89, respectively. BPD severity was associated with male sex, Apgar score and the occurrence of neonatal pneumonia. Significant trends were observed for lower mortality despite lower gestational age and birth weight, greater maternal age and multiple gestations. CONCLUSION: Mortality from BPD has improved over the past three decades despite significant trends toward more pronounced prematurity and lower birth weights. PMID:24421662

  10. Craniofrontonasal dysplasia in two male sibs.

    PubMed

    Natarajan, U; Baraitser, M; Nicolaides, K; Gosden, C

    1993-10-01

    Craniofrontonasal dysplasia (CFND) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and hypertelorism. The parents were normal and there was no family history suggestive of CFND. A small recurrence risk was counselled and prenatal ultrasound was recommended in the next pregnancy. At 23 weeks, the ultrasound scan detected a number of dysmorphic features and the pregnancy was terminated. Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles. This report highlights the occurrence of CFND in two male siblings born to normal parents, and therefore the need to perform prenatal ultrasound in a subsequent pregnancy, even if CFND is diagnosed in an isolated case.

  11. 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

  12. Genetics Home Reference: Schimke immuno-osseous dysplasia

    MedlinePlus

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

  13. A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

    PubMed

    Miyake, Atsushi; Nishimura, Gen; Futami, Toru; Ohashi, Hirofumi; Chiba, Kazuhiro; Toyama, Yoshiaki; Furuichi, Tatsuya; Ikegawa, Shiro

    2008-01-01

    Diastrophic dysplasia sulfate transporter (DTDST) is required for synthesis of sulfated proteoglycans in cartilage, and its loss-of-function mutations result in recessively inherited chondrodysplasias. The 40 or so DTDST mutations reported to date cause a group of disorders termed the diastrophic dysplasia (DTD) group. The group ranges from the mildest recessive form of multiple epiphyseal dysplasia (r-MED) through the most common DTD to perinatally lethal atelosteogenesis type II and achondrogenesis 1B. Furthermore, the relationship between DTDST mutations, their sulfate transport function, and disease phenotypes has been described. Here we report a girl with DTDST mutations: a compound heterozygote of a novel p.T266I mutation and a recurrent p.DeltaV340 mutation commonly found in severe phenotypes of the DTD group. In infancy, the girl presented with skeletal manifestations reminiscent of Desbuquois dysplasia, another recessively inherited chondrodysplasia, the mutations of which have never been identified. Her phenotype evolved with age into an intermediate phenotype between r-MED and DTD. Considering her clinical phenotypes and known phenotypes of p.DeltaV340, p.T266I was predicted to be responsible for mild phenotypes of the DTD group. Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group. PMID:18553123

  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. A probably distinct autosomal recessive thoraco-limb dysplasia.

    PubMed Central

    Rivera, H; Perez-Salas, J M; Nazara, Z; Ramirez, M L

    1988-01-01

    A Mexican mestizo family is reported in which two opposite sexed sibs, born to consanguineous parents, had a skeletal dysplasia. The salient features were a bell shaped thorax owing to short ribs, short limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulae, and improvement with age. It is concluded that the present observation probably represents a distinct autosomal recessive thoraco-limb dysplasia identifiable at birth. Images PMID:3184141

  16. 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

  17. 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

  18. 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.

  19. Biomarkers for Bronchopulmonary Dysplasia in the Preterm Infant.

    PubMed

    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

  20. 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

  1. 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

  2. S-Nitrosoglutathione Attenuates Airway Hyperresponsiveness in Murine Bronchopulmonary Dysplasia.

    PubMed

    Raffay, Thomas M; Dylag, Andrew M; Di Fiore, Juliann M; Smith, Laura A; Einisman, Helly J; Li, Yuejin; Lakner, Mitchell M; Khalil, Ahmad M; MacFarlane, Peter M; Martin, Richard J; Gaston, Benjamin

    2016-10-01

    Bronchopulmonary dysplasia (BPD) is characterized by lifelong obstructive lung disease and profound, refractory bronchospasm. It is observed among survivors of premature birth who have been treated with prolonged supplemental oxygen. Therapeutic options are limited. Using a neonatal mouse model of BPD, we show that hyperoxia increases activity and expression of a mediator of endogenous bronchoconstriction, S-nitrosoglutathione (GSNO) reductase. MicroRNA-342-3p, predicted in silico and shown in this study in vitro to suppress expression of GSNO reductase, was decreased in hyperoxia-exposed pups. Both pretreatment with aerosolized GSNO and inhibition of GSNO reductase attenuated airway hyperresponsiveness in vivo among juvenile and adult mice exposed to neonatal hyperoxia. Our data suggest that neonatal hyperoxia exposure causes detrimental effects on airway hyperreactivity through microRNA-342-3p-mediated upregulation of GSNO reductase expression. Furthermore, our data demonstrate that this adverse effect can be overcome by supplementing its substrate, GSNO, or by inhibiting the enzyme itself. Rates of BPD have not improved over the past two decades; nor have new therapies been developed. GSNO-based therapies are a novel treatment of the respiratory problems that patients with BPD experience. PMID:27484068

  3. 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.

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

    PubMed

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

    2001-07-01

    Approximately one in ten oral white patches (leukoplakia) are histologically classified as dysplasia, with a well-documented potential for developing into oral squamous cell carcinoma (OSCC). Histological grading in oral dysplasia has limited prognostic value, whereas large-scale genomic status (DNA ploidy, nuclear DNA content) is an early marker of malignant transformation in several tissues. Biopsies from 196 patients with oral leukoplakia histologically typed as dysplasia were investigated. Inter-observer agreement among four experienced pathologists performing a simplified grading was assessed by Cohen's kappa values. For 150 of the 196 cases, it was also possible to assess large-scale genomic status and compare its prognostic impact with that of histological grading. Disease-free survival was estimated by life-table methods, with a mean follow-up time of 103 months (range 4-165 months). The primary considered end-point was the subsequent occurrence of OSCC. For grading of the total of 196 cases, kappa values ranged from 0.17 to 0.33 when three grading groups (mild, moderate, and severe dysplasia) were considered, and from 0.21 to 0.32 when two groups (low grade and high grade) were considered (p=0.41). For the 150 cases in which large-scale genomic status was also assessed, kappa values for the histological grading ranged from 0.21 to 0.33 for three grading groups and from 0.27 to 0.34 for two grading groups (p=0.47). In survival analysis, histological grading was without significant prognostic value for any of the four observers (p 0.14-0.44), in contrast to DNA ploidy (p=0.001). It is concluded that DNA ploidy in oral dysplasia has a practical prognostic value, unlike histological grading of the same lesions. PMID:11439362

  5. Primary prevention of skin dysplasia in renal transplant recipients with photodynamic therapy: a randomized controlled trial.

    PubMed

    Togsverd-Bo, K; Omland, S H; Wulf, H C; Sørensen, S S; Haedersdal, M

    2015-11-01

    Organ transplant recipients (OTRs) are at high risk of developing cutaneous squamous cell carcinoma (SCC); prevention includes early treatment of premalignant actinic keratosis (AK). Photodynamic therapy (PDT) is a noninvasive field therapy that reduces new AKs in patients with existing AK and delays SCC development in mice. We investigated the effect of repeated PDT over 5 years for primary prophylaxis of skin dysplasia. These data represent an interim analysis of an on-going randomized controlled trial. During 2008-2011, 25 renal transplant recipients with clinically normal skin were randomized to split-side PDT of the face, forearm and hand, the contralateral side serving as untreated control. Patients received PDT on inclusion and at 6-monthly intervals for 5 years. Blinded evaluation was performed at each visit. We found that prophylactic PDT significantly delayed onset of AK compared with untreated skin, p = 0.020. At 3-year follow-up, we observed AK in 63% of patients in untreated skin areas compared with 28% of patients in PDT-treated skin, with a total number of cumulated AKs in untreated skin (n = 43) compared with PDT-treated skin (n = 8), p = 0.005. These preliminary data indicate a novel approach to early prevention of skin dysplasia that may reduce morbidity from multiple AKs and SCCs in OTR. PMID:26018207

  6. 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.

  7. 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

  8. An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations.

    PubMed

    Freire-Maia, N; Cat, I; Raponegaidzinski, R

    1977-01-01

    A girl is reported with a hitherto apparently undescribed ectodermal dysplasia syndrome. The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe hyperopia, EEG abnormalities, and retarded bone age. The patient also presents mongoloid palpebral slanting, narrow palpebral fissures, bilateral esotropia, photophobia and dermatoglyphics with extensive ridge dissociation. The etiology is unknown but presumed to be genetic, possibly due to the homozygous state of an autosomal recessive mutation.

  9. Rehabilitation of medically complex ectodermal dysplasia with novel surgical and prosthodontic protocols.

    PubMed

    Dhima, M; Salinas, T J; Cofer, S A; Rieck, K L

    2014-03-01

    The functional and aesthetic needs of a 17-year-old patient afflicted with ectodermal dysplasia, chronic long-term immunosuppression, cleft palate, velopharyngeal insufficiency, hypernasality, maxillary hypoplasia, and oligodontia were met with a multidisciplinary team approach. Predictable functional and aesthetic outcomes were obtained with a combination of injection augmentation of the soft palate and nasopharynx and rigid fixation maxillary external distraction with immediate placement and immediate load protocols. No biological or prosthetic complications were noted after definitive rehabilitation with a mandibular implant-retained fixed prosthesis and a maxillary implant-retained detachable prosthesis.

  10. 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

  11. Evaluation of the cartilaginous acetabulum by magnetic resonance imaging in developmental dysplasia of the hip.

    PubMed

    Takeuchi, Ryoko; Kamada, Hiroshi; Mishima, Hajime; Mukai, Naoki; Miyakawa, Shumpei; Ochiai, Naoyuki

    2014-05-01

    MRI findings for 51 hips in 45 pediatric patients (mean age 2.3 years; range, 1.1-4.1 years) with suspected acetabular dysplasia or residual subluxations were analyzed retrospectively. We attempted to predict the growth of osseous acetabulum and future acetabular coverage on MRI performed at 2 years of age. The cut-off value of the cartilaginous angle was 18° for the cartilage acetabular index and 13° for the cartilage center edge angle. However, follow-up assessments to monitor the progress of changes in the congruity between femoral head and acetabular development are important.

  12. Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis.

    PubMed

    Latrech, Hanane; Skiker, Imane; Bentata, Yassamine; Alami, Zayneb; Mouhib Lav, O; Lah, Oumnia Mouhib; Oulali, Nouredine; Benajiba, Nouffissa; Benmassoud, S; El Jabri, Mohammed; Gaouzi, Ahmed; Gharbi, M H; Gharbi, Mohammed El Hassan; Chradibi, Abdelmjid

    2013-12-01

    Dyggve-Melchiore-Clausen (DMC) syndrome is a are autosomal recessive spondyloepimetaphyseal dysplasia associated with mental retardation resulting from mutations in the Dymeclin (DYM) gene mapped in the 18q12-12.1 chromosomal region. We report a case of a consanguineous Moroccan boy with this disease confirmed by the presence of homozygous mutation at c.1878delA of DYM gene. Our patient additionally has a micropenis. We discuss the clinical severity, difficult management of this syndrome and its association with micropenis never described before in the literature.

  13. Evaluation of the cartilaginous acetabulum by magnetic resonance imaging in developmental dysplasia of the hip.

    PubMed

    Takeuchi, Ryoko; Kamada, Hiroshi; Mishima, Hajime; Mukai, Naoki; Miyakawa, Shumpei; Ochiai, Naoyuki

    2014-05-01

    MRI findings for 51 hips in 45 pediatric patients (mean age 2.3 years; range, 1.1-4.1 years) with suspected acetabular dysplasia or residual subluxations were analyzed retrospectively. We attempted to predict the growth of osseous acetabulum and future acetabular coverage on MRI performed at 2 years of age. The cut-off value of the cartilaginous angle was 18° for the cartilage acetabular index and 13° for the cartilage center edge angle. However, follow-up assessments to monitor the progress of changes in the congruity between femoral head and acetabular development are important. PMID:24394595

  14. Dento-osseous anomalies associated to familial adenomatous polyposis mimicking florid cemento-osseous dysplasia.

    PubMed

    Almeida, Fabiana Tolentino; Leite, André Ferreira; de Souza Figueiredo, Paulo Tadeu; Melo, Nilce Santos; Sousa, João Batista; Almeida, Rômulo; Acevedo, Ana Carolina; Silva Guerra, Eliete Neves

    2012-12-01

    Familial adenomatous polyposis (FAP) is a colorectal cancer syndrome characterized by the development of multiple polyps of the colon and rectum with high risk of malignant transformation. The extraintestinal manifestations such as dento-osseous changes are associated with FAP. This is a case report of a 36-year-old female patient who was referred for dental treatment with the initial diagnosis of florid cemento-osseous dysplasia (FCOD). However, the association of the imaging dento-osseous findings with the medical history confirmed the diagnosis of FAP. The paper illustrates the clinical characteristics and imaging findings associated with FAP, and also discusses misdiagnosis based exclusively on imaging features.

  15. 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

  16. 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.

  17. Genetic heterogeneity in multiple epiphyseal dysplasia

    SciTech Connect

    Deere, M.; Hecht, J.T.; Blanton, S.H.; Scott, C.I.; Langer, L.O.; Pauli, R.M.

    1995-03-01

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

  18. Pathogenesis and Treatment of Bronchopulmonary Dysplasia

    PubMed Central

    Gien, Jason; Kinsella, John P.

    2012-01-01

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

  19. The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia

    PubMed Central

    Mandelstam, Simone A.; Maixner, Wirginia J.; Leventer, Richard J.; Semmelroch, Mira; MacGregor, Duncan; Kalnins, Renate M.; Perchyonok, Yuliya; Fitt, Gregory J.; Barton, Sarah; Kean, Michael J.; Fabinyi, Gavin C.A.; Jackson, Graeme D.

    2015-01-01

    Objective: To determine clinical and EEG features that might help identify patients with epilepsy harboring small, intrinsically epileptogenic, surgically treatable, bottom-of-sulcus dysplasias (BOSDs). Methods: Retrospective review of clinical records, EEG, MRI, and histopathology in 32 patients with drug-resistant epilepsy and MRI-positive (72% 3.0 tesla), pathologically proven (type 2B cortical dysplasia) BOSDs operated at our centers during 2005–2013. Results: Localization of BOSDs was frontal in 19, insula in 5, parietal in 5, and temporal in 3, on the convexity or interhemispheric surfaces. BOSDs were missed on initial MRI at our centers in 22% of patients. Patients presented with focal seizures during infancy in 9, preschool years in 15, and school years in 8 (median age 5 years). Seizures were stereotyped, predominantly nocturnal, and typically nonconvulsive, with semiology referable to the fronto-central or perisylvian regions. Seizures occurred at high frequency during active periods, but often went into prolonged remission with carbamazepine or phenytoin. Intellect was normal or borderline, except in patients with seizure onset during infancy. Scalp EEG frequently revealed localized interictal epileptiform discharges and ictal rhythms. Patients underwent lesionectomy (median age 14 years) guided by electrocorticography and MRI, with prior intracranial EEG monitoring in only one patient. Twenty-eight patients (88%) became seizure-free, and 20 discontinued antiepileptic medication (median follow-up 4.1 years). Conclusions: In patients with cryptogenic focal epilepsy, this clinical presentation and course should prompt review of or repeat MRI, looking for a BOSD in the frontal, parietal, or insula cortex. If a BOSD is identified, the patient might be considered for single-stage lesionectomy. PMID:25888556

  20. Comparison of open reduction alone and open reduction plus Dega osteotomy in developmental dysplasia of the hip.

    PubMed

    Issin, Ahmet; Öner, Ali; Koçkara, Nizamettin; Çamurcu, Yalkin

    2016-01-01

    In the treatment of developmental dysplasia of the hip, concentric reduction of the femoral head into the acetabular cavity plays a key role in the natural development of the acetabulum. However, there is still debate on the need for additional acetabular osteotomies and their timing. In this study, we compared open reduction (OR) alone with OR plus Dega osteotomy for acetabular index (AI) development. Twenty patients, 10 in each group, who underwent either OR alone or OR plus Dega osteotomy were studied retrospectively. All patients were diagnosed with developmental dysplasia of the hip and none of them received treatment previously. Preoperative, early postoperative, and follow-up radiographs were gathered, radiological grading was performed according to Tönnis, and AI angles were measured. The OR group had a mean age of 24.5 months, whereas the Dega group had a mean age of 24.8 months. The mean follow-up period of the OR group and Dega group was 57.8 and 66.6 months, respectively. In the OR group, the initial mean AI was 37.5° whereas in the Dega group it was 46°. After the follow-up, despite the acetabular development in the OR group being twice as fast, the final mean AI was 25.5, whereas it was 15.9 in the Dega group. The difference was statistically significant (P<0.05). Using Tönnis' definition, the Dega group ended up with 70% normal hips, 20% mild dysplasia, and 10% severe dysplasia, whereas the OR group had 20% normal hips, 30% mild dysplasia, and 50% severe dysplasia at the final visit. There was no correlation between the initial radiological grading of dislocation and the final result. OR plus Dega osteotomy is a good option to regain acetabular coverage over the femoral head. It provides better radiographic results after a 5-year follow-up period in patients with a mean age of 25 months. OR alone should not be performed unless the child had mildly dysplastic acetabulum according to Tönnis' definition. PMID:26352104

  1. 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.

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

    PubMed

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

    2015-12-01

    Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia. PMID:26734141

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

    PubMed

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

    2015-12-01

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

  4. Observations of different patterns of dysplasia in barretts esophagus - a first step to harmonize grading.

    PubMed

    Vieth, Michael; Montgomery, Elizabeth A; Riddell, Robert H

    2016-01-01

    We reviewed a set of cases of early neoplasia (low grade / high grade dysplasia / IEN and mucosal carcinoma) to reach better defined criteria for subtypes of dysplasia/differentiation in the columnar lined (Barretts) esophagus. We discuss criteria that we categorized for recognizing low and high-grade dysplasia and mucosal carcinoma in patterns of neoplasia that we regarded as intestinal, gastric and mixed.

  5. The birth prevalence rates for the skeletal dysplasias.

    PubMed Central

    Orioli, I M; Castilla, E E; Barbosa-Neto, J G

    1986-01-01

    This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), for the years 1978 to 1983, on 349 470 births (live and stillbirths), a crude prevalence rate of 2.3/10 000 was observed. However, several indications of under-registration suggest that the real value is about twice that observed. The most frequent types of skeletal dysplasia were achondroplasia, with a prevalence rate between 0.5 and 1.5/10 000 births, the thanatophoric dysplasia/achondrogenesis group (0.2 and 0.5/10 000 births), and osteogenesis imperfecta (0.4/10 000 births). The mutation rate for autosomal dominant achondroplasia was estimated at between 1.72 and 5.57 X 10(-5) per gamete per generation. PMID:3746832

  6. Frontorbital Fibrous Dysplasia Resection and Reconstruction With Custom Polyetherlatone Alloplast.

    PubMed

    Nahumi, Nadav; Shohet, Michael R; Bederson, Joshua B; Elahi, Ebrahim

    2015-11-01

    Fibrous dysplasia (FD) is a benign, pathological development of bone. Craniofacial bones are the most commonly involved and can potentially cause visual disturbance, proptosis, orbital dystopia, and facial deformity. This case involves a 13-year-old girl with significant proptosis (20 mm left, 17.5 mm right) and downward displacement of the left globe (1.5 mm) due to fibrous dysplasia. Reconstruction was performed with computed tomography-derived and 3D printed custom polyetheretherketone (PEEK) implantation. PEEK is a nonabsorbable, nonporous thermoplastic polymer notable for its ability to be modified intraoperatively and ideal imaging properties postoperatively. Never, to our knowledge, has PEEK been used for primary reconstruction of the frontal orbital region in fibrous dysplasia in a child. The lesion was successfully repaired with excellent aesthetic and no apparent damage to neurovascular or ocular structures. PMID:26594985

  7. ULTRASONOGRAPHIC FINDINGS IN CAIRN TERRIERS WITH PRECLINICAL RENAL DYSPLASIA

    PubMed Central

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

    2011-01-01

    Renal dysplasia is a hereditary disease characterized by abnormal differentiation of renal tissue. The ultrasonographic appearance of dysplastic canine kidneys has been reported in the late stage of the disease where inflammatory and degenerative changes are already present and the dogs are in chronic renal failure. In this study, we describe the ultrasonographic appearance of the kidneys of five related Cairn Terriers affected with renal dysplasia before the onset of clinical or laboratory evidence of renal failure. Common findings included poor corticomedullary definition and multifocal hyperechoic speckles in the renal medulla, or a diffusely hyperechoic medulla. Severity of ultrasonographic changes was related to the severity of histopathologic findings. The ability to detect dysplastic changes before clinical signs develop makes ultrasound a potentially useful screening method for canine renal dysplasia. PMID:20806879

  8. The birth prevalence rates for the skeletal dysplasias.

    PubMed

    Orioli, I M; Castilla, E E; Barbosa-Neto, J G

    1986-08-01

    This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), for the years 1978 to 1983, on 349 470 births (live and stillbirths), a crude prevalence rate of 2.3/10 000 was observed. However, several indications of under-registration suggest that the real value is about twice that observed. The most frequent types of skeletal dysplasia were achondroplasia, with a prevalence rate between 0.5 and 1.5/10 000 births, the thanatophoric dysplasia/achondrogenesis group (0.2 and 0.5/10 000 births), and osteogenesis imperfecta (0.4/10 000 births). The mutation rate for autosomal dominant achondroplasia was estimated at between 1.72 and 5.57 X 10(-5) per gamete per generation. PMID:3746832

  9. Bilateral juvenile renal dysplasia in a Norwegian Forest Cat.

    PubMed

    Aresu, Luca; Zanatta, Renato; Pregel, Paola; Caliari, Diego; Tursi, Massimiliano; Valenza, Federico; Tarducci, Alberto

    2009-04-01

    Renal dysplasia is defined as a condition of disorganised development of renal parenchyma due to abnormal differentiation. The case of a 5-month-old intact male Norwegian Forest Cat with a history of polyuria and polydipsia is reported. Ultrasonographic examination showed a slight enlargement of kidneys. Biochemical parameters, haematological examinations and clinical signs were compatible with chronic renal failure (CRF). Histological examination was correlated with a primary tubular disorganisation and modification of glomerular compartment. The clinical history together with the histological lesions is consistent with bilateral juvenile renal dysplasia in this cat. To our knowledge, feline renal dysplasia has been reported in fetal infections with panleukopenia virus; no reports indicate the idiopathic origin in feline dysplastic lesions.

  10. [Interradicular course of the inferior alveolar nerve at the mandibular right third molar and monostotic fibrous dysplasia affecting the mandibular left third molar in the same patient. A case report].

    PubMed

    Wölner-Hanssen, Andrea B; Pozzi, Elena Ch Ferrazzini; Vajtai, Istvan; Bornstein, Michael M

    2009-01-01

    To minimize the risk of intraoperative complications, a comprehensive radiological diagnostic work-up should be a routine procedure in oral surgery. This is especially true concerning possible damage to the inferior alveolar nerve during surgical removal of the third molars. The course and location of the nerve are best assessed when evaluating panoramic view images or cone beam CTs. The following case report demonstrates and discusses the importance of a thorough radiological evaluation before surgery, the problems raised by an interradicular course of the inferior alveolar nerve, and the finding of a monostotic fibrous dyplasia in the same patient.

  11. Mechanisms of Lung Injury and Bronchopulmonary Dysplasia.

    PubMed

    Jobe, Alan H

    2016-09-01

    Although bronchopulmonary dysplasia (BPD) is the most frequent adverse outcome for infants born at < 30 weeks gestational age, there remain major gaps in understanding the pathophysiology, and thus there are few effective targeted therapies to prevent and treat BPD. This review will focus on the substantial problems and knowledge gaps for the clinician and investigator when considering lung injury and BPD. The epidemiology of BPD is clear: BPD is a lung injury syndrome predominantly in extremely low-birth-weight infants with an incidence that increases as gestation/birth weight decrease, with growth restriction, in males and with fetal exposures and with injury from postdelivery respiratory care. However, we do not have a good definition of BPD that identifies the infants that die of respiratory disease before 36 weeks or that predicts long-term outcomes as well. The injury resulting in BPD likely begins as altered lung development before delivery in many infants (small for gestational age, chorioamnionitis, tobacco exposure), can be initiated by resuscitating at birth, and then amplified by postnatal exposures (oxygen, mechanical ventilation, infection). Conceptually the events leading to BPD are the continued interplay of lung development that is altered progressively by injury and repair to result in poorly defined phenotypes of BPD. The injury pathways prominently cause inflammation, and as a proof of principle, corticosteroids can decrease the incidence and severity of BPD, as demonstrated by three recent trials of the early use of steroids. There are likely "adaptation" and "tolerance" responses that modulate the injury and repair to increase or decrease the damage, interactions that are not understood. BPD is a more complex disease. PMID:27603539

  12. Integrated Genomic Analyses in Bronchopulmonary Dysplasia

    PubMed Central

    Ambalavanan, Namasivayam; Cotten, C. Michael; Page, Grier P.; Carlo, Waldemar A.; Murray, Jeffrey C.; Bhattacharya, Soumyaroop; Mariani, Thomas J.; Cuna, Alain C.; Faye-Petersen, Ona M.; Kelly, David; Higgins, Rosemary D.

    2014-01-01

    Objective To identify single nucleotide polymorphisms (SNPs) and pathways associated with bronchopulmonary dysplasia (BPD) because O2 requirement at 36 weeks’ post-menstrual age risk is strongly influenced by heritable factors. Study design A genome-wide scan was conducted on 1.2 million genotyped SNPs, and an additional 7 million imputed SNPs, using a DNA repository of extremely low birth weight infants. Genome-wide association and gene set analysis was performed for BPD or death, severe BPD or death, and severe BPD in survivors. Specific targets were validated using gene expression in BPD lung tissue and in mouse models. Results Of 751 infants analyzed, 428 developed BPD or died. No SNPs achieved genome-wide significance (p<10−8) although multiple SNPs in adenosine deaminase (ADARB2), CD44, and other genes were just below p<10−6. Of approximately 8000 pathways, 75 were significant at False Discovery Rate (FDR) <0.1 and p<0.001 for BPD/death, 95 for severe BPD/death, and 90 for severe BPD in survivors. The pathway with lowest FDR was miR-219 targets (p=1.41E-08, FDR 9.5E-05) for BPD/death and Phosphorous Oxygen Lyase Activity (includes adenylate and guanylate cyclases) for both severe BPD/death (p=5.68E-08, FDR 0.00019) and severe BPD in survivors (p=3.91E-08, FDR 0.00013). Gene expression analysis confirmed significantly increased miR-219 and CD44 in BPD. Conclusions Pathway analyses confirmed involvement of known pathways of lung development and repair (CD44, Phosphorus Oxygen Lyase Activity) and indicated novel molecules and pathways (ADARB2, Targets of miR-219) involved in genetic predisposition to BPD. PMID:25449221

  13. [Fibrous dysplasia of bone in a 12-year old girl].

    PubMed

    Bieniasz, Jolanta; Maj, Anna; Noczyńska, Anna

    2006-01-01

    Fibrous dysplasia of bone is a rare congenital bone disease, usually coming out before the age of 30. It is 2.5% of all bone tumours and 7.5 % of benign tumours of bones. The authors present a case of a 12-years old girl with fibrous dysplasia of bone admitted to the Department with hyperparathyroidism suspicion. Pathological changes were localized in the orbital cavity and sinuses. The diagnosis was established on the basis of the clinical course, imaging and histopathological examinations. The therapy with pamidronian acid was applied.

  14. 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

  15. Dental management of oculodentodigital dysplasia: a case report.

    PubMed

    Aminabadi, Naser A; Pourkazemi, Maryam; Oskouei, Sina G; Jamali, Zahra

    2010-06-01

    Oculodentodigital dysplasia is an extremely rare autosomal dominant pleiotropic disorder. The syndrome is characterized by abnormal facial features, central nervous system involvement, syndactyly and clinodactyly of fourth and fifth fingers, dry and lusterless hair, generalized enamel hypoplasia and odontodysplasia. Combination of odontodysplasia, poor oral hygiene, and parental neglect can lead to extensive destruction of tooth structure and the treatment options become limited. Early diagnosis with a proper treatment plan and meticulous oral hygiene program helps eliminate the necessity of multiple tooth extractions. This case report describes the comprehensive dental treatment aimed at rehabilitation of function and aesthetics of the dentition in an 8-year-old boy with oculodentodigital dysplasia.

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

    PubMed

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

    2012-03-01

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

  17. Autosomal Recessive Anhidrotic Ectodermal Dysplasia: A Rare Entity

    PubMed Central

    Ghosh, Sangita; Ghosh, Epsita; Dayal, Surabhi

    2014-01-01

    We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED) can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED), which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic. PMID:25071285

  18. Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.

    PubMed

    Basit, S; Hannan, M A; Khoshhal, K I

    2016-07-01

    Developmental dysplasia of the hip (DDH) is one of the most common skeletal anomalies. DDH encompasses a spectrum of the disorder ranging from minor acetabular dysplasia to irreducible dislocation, which may lead to premature arthritis in later life. Involvement of genetic factors underlying DDH became evident when several studies reported chromosomal loci linked to DDH in families with multiple affected individuals. Moreover, using association studies, variants in genes involved in chondrogenesis and joint formation have been shown to be associated with DDH. At least, one study identified a pathogenic variant in the chemokine receptor gene in DDH. No genetic analysis has been reported or carried out in DDH patients from the Middle East. Here, we review the literature related to genetics of DDH and emphasized the usefulness of new generation technologies in identifying genetic variants underlying DDH in consanguineous families. PMID:26842108

  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. A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.

    PubMed

    Maeda, Koichi; Miyamoto, Yoshinari; Sawai, Hideaki; Karniski, Lawrence P; Nakashima, Eiji; Nishimura, Gen; Ikegawa, Shiro

    2006-06-01

    Diastrophic dysplasia sulfate transporter (DTDST) is a sulfate transporter required for the synthesis of sulfated proteoglycans in the cartilage. Over 30 mutations have been described in the DTDST gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO-II) and achondrogenesis 1B (ACG-1B). Correlation between disease severity and residual sulfate transport activity has been reported. Here we report a patient with DTDST mutations, whose manifestations fell in a range between AO-II and DTD. The patient was a compound heterozygote for the recurrent c.835C>T (p.R279W) and novel c.1987G>A (p.G663R) mutations. Immunocytochemical analysis in HEK293 cells showed that the p.G663R mutation was localized within the cytoplasm, and not to the cell membrane, suggesting p.G663R is a loss-of-function mutation. Our case supports the previously described correlation between the severity of the phenotype and the putative level of residual transport function. PMID:16642506