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Sample records for cleidocranial dysplasia patients

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

    PubMed Central

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

    2015-01-01

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

  2. Prosthetic rehabilitation of a cleidocranial dysplasia patient with vertical maxillofacial deficiency: a clinical report.

    PubMed

    Noh, Kwantae; Kwon, Kung-Rock; Ahn, Hyowon; Paek, Janghyun; Pae, Ahran

    2014-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder characterized by skeletal and dental anomalies. This clinical report describes the prosthodontic approach to treating a CCD patient who presented with decreased facial height and relative mandibular protrusion due to maxillary hypoplasia after orthodontic treatment. Functional and esthetic rehabilitation was achieved using telescopic detachable prostheses in the maxilla and osseointegrated implants and metal-ceramic fixed dental prostheses in the mandible. These treatment approaches precluded the need for orthognathic surgical correction and presented a favorable prognosis during the 5-year observation period. © 2013 American College of Prosthodontists.

  3. 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

  4. Cleidocranial dysplasia with hearing loss

    PubMed Central

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

    2013-01-01

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

  5. Cleidocranial dysplasia: A 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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2012-04-01

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

  8. 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

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

    PubMed

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

    2015-01-01

    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. 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. 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.

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

    PubMed

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

    2010-03-01

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

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  13. 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

  14. A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.

    PubMed

    Hsueh, Sung-Ju; Lee, Ni-Chung; Yang, Shu-Hua; Lin, Han-I; Lin, Chin-Hsien

    2017-01-06

    Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene. A 58 year-old man presented with progressive back pain and six months of weakness in the proximal parts of all four limbs. Physical examinations showed that he was short in stature (height, 164.4 cm; weight, 79.1 kg) with a dysmorphic face, including hypertelorism, midface hypoplasia, and chin protrusion. At a young age, he had received orthodontic surgery, due to dental abnormalities. Neurological examinations revealed sloping shoulders, weakness, and atrophy in the proximal areas of the arms, shoulder girdle muscles, and legs. The deep tendon reflex and sensory system were normal. Radiological examinations revealed mild scoliosis, shortened clavicles, and a depressed skull bone, which were consistent with a clinical diagnosis of CCD. Electromyography (EMG) studies showed myogenic polyphasic waves in the deltoid, biceps brachii, and rectus femoris muscles. Instead, the EMG findings were normal in the first dorsal interosseous, tibialis anterior and facial muscles. The EMG findings were compatible with a limb-girdle pattern with facial sparing. The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness. We sequenced the RUNX2 gene and discovered a heterozygous missense mutation (c.G674A, p.R225Q), which altered the C-terminal end of the RUNX2 protein. This mutation was predicted to inactivate the protein and might affect its interactions with other proteins. This mutation co

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

    PubMed

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

    2000-04-01

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

  16. Craniofacial changes and treatment of the stomatognathic system in subjects with Cleidocranial dysplasia.

    PubMed

    D'Alessandro, G; Tagariello, T; Piana, G

    2010-03-01

    Cleidocranial dysplasia (CCD) is a rare disorder that is inherited as an autosomal genetic trait. It is characterised by defective ossification, delayed bone and tooth development, stomatognathic and craniofacial abnormalities and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. CCD is a dental disease that needs complex rehabilitation and the assistance of several specialists. In most cases, this disease precipitates towards the end of childhood with the progressive morbidity of the deciduous dentition, thus leading to edentulism at a young age and giving patients an older appearance. Several therapeutic approaches have been proposed within literature. The aim of this paper is to revise the literature on the proposed therapeutic approaches for the functional and aesthetical rehabilitation of the typical defects caused by CCD in the cephalic region, and to identify the most effective therapy currently available. The most effective therapeutic approach for the early treatment of the orthodontic and orthopaedic diseases in CCD patients would start with an orthopaedic treatment of the upper jaw followed by orthodontic and surgical treatments. When growth is completed a reintervention for maxillofacial surgery and the orthodontic treatment may be required. Finally, if some teeth are missing. function and aesthetics can be achieved replacing them with prosthesis.

  17. A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia.

    PubMed

    Fang, C Y; Xue, J J; Tan, L; Jiang, C H; Gao, Q P; Liang, D S; Wu, L Q

    2011-12-14

    We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with DNA from two patients and three unaffected family members. The RUNX2 mutation was investigated in 50 normal controls by denaturing high pressure liquid chromatography. A heterozygous single-base deletion (c.549delC) of RUNX2, which predicts a termination site at the 185th codon and leads to a stop in the runt domain of RUNX2 protein, was detected in both patients but not in the three unaffected members of the family. This mutation was also not found in 50 controls and has not been reported previously. We demonstrated that a novel mutation (c.549delC) of RUNX2 is associated with CCD in a Chinese family, adding to the repertoire of RUNX2 mutations related to CCD.

  18. 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.

  19. 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.

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

    PubMed Central

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

    2017-01-01

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

  1. 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.

  2. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

    PubMed Central

    Tang, Shaohua; Xu, Qiyu; Xu, Xueqin; Du, Jicheng; Yang, Xuemei; Jiang, Yusheng; Wang, Xiaoqin; Speck, Nancy; Huang, Taosheng

    2007-01-01

    Background Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the genetic basis of Chinese family with CCD. Methods Here, a large Chinese family with CCD and hyperplastic nails was recruited. The clinical features displayed a significant intrafamilial variation. We sequenced the coding region of the RUNX2 gene for the mutation and phenotype analysis. Results The family carries a c.T407C (p.L136P) mutation in the DNA- and CBFβ-binding Runt domain of RUNX2. Based on the crystal structure, we predict this novel missense mutation is likely to disrupt DNA binding by RUNX2, and at least locally affect the Runt domain structure. Conclusion A novel missense mutation was identified in a large Chinese family with CCD with hyperplastic nails. This report further extends the mutation spectrum and clinical features of CCD. The identification of this mutation will facilitate prenatal diagnosis and preimplantation genetic diagnosis. PMID:18166138

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

    PubMed

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

    1993-01-01

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

  4. Patient Symptomatology in Anal Dysplasia.

    PubMed

    Hicks, Caitlin W; Wick, Elizabeth C; Leeds, Ira L; Efron, Jonathan E; Gearhart, Susan L; Safar, Bashar; Fang, Sandy H

    2015-06-01

    High-resolution anoscopy (HRA) is becoming increasingly advocated as a method of screening for anal dysplasia in high-risk patients. To describe, through HRA findings, the association between patient symptomatology and anal dysplasia among patients at high risk for anal dysplasia. Univariable and multivariable analyses were conducted of data from a prospectively maintained HRA database on all patients undergoing HRA with biopsy from November 1, 2011, to March 13, 2014, at a tertiary care HRA clinic. Data included demographics, medical history and comorbidities, HIV status and related measures (CD4 cell counts, HIV viral load, and use of highly active antiretroviral therapy), sexual orientation (when available), patient symptoms at initial presentation, physical examination findings, anal Papanicolaou (Pap) smear findings. High-resolution anoscopy diagnosis of high- vs low-grade dysplasia or no dysplasia. One hundred sixty-one HRA biopsy specimens (mean [SEM], 1.77 [0.11] biopsy specimens per patient) were obtained from 91 patients (mean [SEM] age, 45.7 [1.2] years; 61 men [67%]; 47 black patients [52%]; and 70 human immunodeficiency virus-positive patients [77%]). Twenty-seven patients (30%) had high-grade dysplasia, 26 had low-grade dysplasia (29%), and 38 had no dysplasia (42%). The majority of patients (63 [69%]) were asymptomatic (anal pain, 11 [12%]; bleeding, 14 [15%]; and pruritus, 10 [11%]). Forty-one patients (45%) presented with anal pain (odds ratio, 5.25; 95% CI, 1.44-21.82; P = .02), and patients with either high- or low-grade dysplasia were more likely to present with anal lesions on physical examination compared with patients without dysplasia (odds ratio, 4.34; 95% CI, 1.78-11.20; P = .002). Multivariable analysis suggested that anal pain was independently associated with high-grade dysplasia (odds ratio, 6.42; 95% CI, 1.18-43.3; P = .03). Anal dysplasia is a silent disease that is frequently asymptomatic. However, patients with anal

  5. Genetics Home Reference: cleidocranial dysplasia

    MedlinePlus

    ... cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific ... Westendorf JJ. Runx2: a master organizer of gene transcription in developing and maturing osteoblasts. Birth Defects Res ...

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

    PubMed

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

    2013-01-01

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

  7. DNA Fingerprinting Abnormalities Can Distinguish Ulcerative Colitis Patients with Dysplasia and Cancer from Those Who Are Dysplasia/Cancer-Free

    PubMed Central

    Chen, Ru; Rabinovitch, Peter S.; Crispin, David A.; Emond, Mary J.; Koprowicz, Kent M.; Bronner, Mary P.; Brentnall, Teresa A.

    2003-01-01

    Patients with extensive ulcerative colitis (UC) of longer than 8 years duration are at high risk for the development of colorectal cancer. The cancers in these patients appear to develop in a stepwise manner with progressive histological changes from negative for dysplasia → indefinite for dysplasiadysplasia → cancer. The aim of this study was to determine the timing and extent of genomic instability in the progression of UC dysplasia and cancer. Using two polymerase chain reaction (PCR)-based DNA fingerprinting methods, arbitrarily primed PCR and intersimple sequence repeat PCR, we assessed DNA sequence variation in biopsies across the spectrum of cancerous, dysplastic, and nondysplastic mucosa. UC patients with dysplasia/cancer had substantial genomic instability in both their dysplastic and nondysplastic colonic mucosa, whereas instability was not present in the majority of UC patients without dysplasia/cancer. The degree of instability in nondysplastic tissue was similar to that of dysplastic/cancerous mucosa from the same patient, suggesting that this instability was widespread and reached the maximum level early in neoplastic progression. These results suggest that UC patients who develop dysplasia or cancer have an underlying process of genomic instability in their colonic mucosa whereas UC patients who are dysplasia-free do not. PMID:12547724

  8. Orthopedics management of acromicric dysplasia: follow up of nine patients.

    PubMed

    Klein, Céline; Le Goff, Carine; Topouchian, Vicken; Odent, Sylvie; Violas, Philippe; Glorion, Christophe; Cormier-Daire, Valérie

    2014-02-01

    Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and skeleton features including brachymetacarpia, cone-shaped epiphyses, internal notch of the femoral head, and delayed bone age. Recently, we identified fibrillin 1 (FBN1) as the disease gene of AD. The aim of our study was to further describe the long-term follow up of AD patients with an emphasis on orthopedic management. Nine patients with FBN1 mutations were included in the study ranging in age from 5.5 to 64 years. For all, detailed clinical and radiological data were available. Birth parameters were always normal and patients progressively developed short stature <-3 SD. Carpal tunnel syndrome was observed in four patients. We found discrepancy between the carpal bone age and the radius and ulna epiphysis bone ages, a variable severity of hip dysplasia with acetabular dysplasia, epiphyseal and metaphyseal femoral dysplasia resembling Legg-Perthes-Calvé disease and variable pelvic anteversion and hyperlordosis. Orthopedic surgery was required in two patients for hip dysplasia, in one for limb lengthening and in three for carpal tunnel syndrome. Our observations expand the AD phenotype and emphasize the importance of regular orthopedic survey. © 2013 Wiley Periodicals, Inc.

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

    PubMed

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

    2007-11-01

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

  10. Labral morphologic characteristics in patients with symptomatic acetabular dysplasia.

    PubMed

    Sankar, Wudbhav N; Beaulé, Paul E; Clohisy, John C; Kim, Young-jo; Millis, Michael B; Peters, Christopher L; Podeszwa, David A; Schoenecker, Perry L; Sierra, Rafael J; Sink, Ernest L; Sucato, Daniel J; Zaltz, Ira

    2015-09-01

    The morphologic characteristics of the labrum in patients with symptomatic acetabular dysplasia have been described to some extent in smaller retrospective series, but the need remains to further define these disease characteristics and their importance as a diagnostic feature of hip instability. To (1) characterize the morphologic characteristics of the labrum in patients with symptomatic acetabular dysplasia and (2) test the relationships between specific labral variants, severity of dysplasia, and duration of symptoms. Cross-sectional study; Level of evidence, 3. Thirteen surgeons from 10 centers enrolled patients undergoing periacetabular osteotomy (PAO) for symptomatic acetabular dysplasia from 2008 to 2014. Patient demographics, presenting characteristics, preoperative radiographic data, operative data, and intraoperative findings were prospectively collected and retrospectively reviewed. A total of 942 patients (972 hips) met the initial inclusion criteria, with a mean age of 25.2 years (range, 9-51 years; 84% female, 16% male). In addition to having PAO, 52.6% of hips had an anterior arthrotomy and 19.8% had a hip arthroscopy either to perform an osteochondroplasty of the femoral head-neck junction or to address labral pathologic changes. Of these 553 hips in which the labrum was visualized, labral morphologic status was graded as hypertrophic in 50%, normal in 45%, hypoplastic in 4%, and ossified in less than 1%. Decreased lateral center-edge angle and anterior center-edge angle and increased acetabular inclination were associated with labral hypertrophy, but chronicity of symptoms was not. Of the 553 hips, 64% had tears of the labrum, with the majority being degenerative-type tears. Labral pathologic changes are common in patients with symptomatic acetabular dysplasia. Labral hypertrophy, however, is not a universal finding, particularly in hips with mild dysplasia, and therefore should not be considered a reliable diagnostic criterion for instability.

  11. Atypical focal cortical dysplasia in a patient with Cowden syndrome.

    PubMed

    Cheung, K M; Lam, C W; Chan, Y K; Siu, W K; Yong, L

    2014-04-01

    A macrocephalic girl presented with generalised epilepsy due to focal cortical dysplasia. She later developed multiple hamartomatous lesions and was diagnosed to have Cowden syndrome. The diagnosis was confirmed by identification of a novel frameshift mutation in the PTEN gene of the patient.

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

    PubMed

    Rebouças Moreira, Tiago Amaral; Demange, Marco Kawamura; Gobbi, Riccardo Gomes; Mustacchi, Zan; Pécora, José Ricardo; Passarelli Tírico, Luis Eduardo; Camanho, Gilberto Luis

    2015-01-01

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

  13. Schimke immuno-osseous dysplasia: case report and review of 25 patients

    PubMed Central

    Saraiva, J.; Dinis, A.; Resende, C.; Faria, E.; Gomes, C.; Correia, A; Gil, J.; da Fonseca, N.

    1999-01-01

    Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown.


Keywords: osteochondrodysplasia; immuno-osseous dysplasia; spondyloepiphyseal dysplasia; defective cellular immunity PMID:10528861

  14. Genetics Home Reference: boomerang dysplasia

    MedlinePlus

    ... Dysplasia MalaCards: boomerang dysplasia Orphanet: Boomerang dysplasia Patient Support and Advocacy Resources (3 links) International Skeletal Dysplasia Registry, UCLA March of Dimes: Loss and Grief The Compassionate Friends GeneReviews (1 link) FLNB-Related ...

  15. 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

  16. 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

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

    PubMed

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

    2014-05-01

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

  18. Determinants of impaired quality of life in patients with fibrous dysplasia.

    PubMed

    Majoor, Bas C J; Andela, Cornelie D; Bruggemann, Jens; van de Sande, Michiel A J; Kaptein, Ad A; Hamdy, Neveen A T; Dijkstra, P D Sander; Appelman-Dijkstra, Natasha M

    2017-04-27

    Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with fibrous dysplasia using the Short Form-36 and the Brief Pain Inventory questionnaires. Data were compared with those of the general Dutch population. Out of 138 patients from a cohort of 255 patients with fibrous dysplasia that were sent questionnaires assessing quality of life and pain, the response rate was 70.3%, with 97 patients, predominantly female (65%), completing the questionnaires. Monostotic fibrous dysplasia was predominant (n = 62, 64%). Fibrous dysplasia patients had significantly lower quality of life outcome scores than the general Dutch population for all tested domains of the Short Form-36 except for the "Mental health" and the "Role emotional" domains. More severe forms of fibrous dysplasia, had the more severe Short-Form-36 quality of life outcomes, but there was no significant difference in Brief Pain Inventory domains between different subtypes of fibrous dysplasia. Quality of life was lower in patients with higher disease burden, as reflected by high skeletal burden scores (p = 0.003) and high levels of P1NP (p = 0.002). We demonstrate impairments in all domains of quality of life, except for 'Mental health' and 'Role emotional' domains, across the wide spectrum of fibrous dysplasia including its milder forms. We identified high skeletal burden scores, reflecting disease severity, as the most consistent predictor of impaired quality of life. Our findings hold significant clinical implications as they draw attention to the clinically unmet need to address quality of life issues in the management of patients with all subtypes of fibrous dysplasia, including its milder forms.

  19. Fibromuscular Dysplasia

    MedlinePlus

    ... for this author on this site Article Figures & Tables Info & Metrics eLetters Jump to Article What Is ... Are Available for Patients With FMD? Disclosures Figures & Tables Info & Metrics eLetters fibromuscular dysplasia patient education peripheral ...

  20. PITX1 is a reliable biomarker for predicting prognosis in patients with oral epithelial dysplasia

    PubMed Central

    NAKABAYASHI, MOTOKI; OSAKI, MITSUHIKO; KODANI, ISAMU; OKADA, FUTOSHI; RYOKE, KAZUO; OSHIMURA, MITSUO; ITO, HISAO; KUGOH, HIROYUKI

    2014-01-01

    Paired-like homeodomain 1 (PITX1) genes are essential in human development. In the present study, PITX1 protein expression was evaluated in human normal oral mucosa, oral epithelial dysplasia and oral squamous cell carcinoma (OSCC), with the aim of examining the expression patterns of these critical genes during the multi-stage transformation of oral epithelial dysplasia to OSCC. PITX1 and Ki-67 expression were assessed by immunohistochemistry in 26 individuals with normal oral mucosa, 106 patients with oral epithelial dysplasia and 97 OSCC patients. The labeling indices (LIs) of PITX1 and Ki-67 were calculated and their correlation with the incidence of malignancy was evaluated. The PITX1 LI of the dysplasia specimens was significantly lower than that of the normal oral mucosa samples, but significantly higher than that of the OSCC samples. The oral epithelial dysplasia patients that exhibited low PITX1 expression showed a significantly higher incidence of malignant transformation than those exhibiting high PITX1 expression, regardless of the histological grades of their oral epithelial dysplasias. On the other hand, no correlation was observed between the Ki-67 LI and the incidence of malignancy. These results suggested that PITX1 suppression is associated with malignant transformation in the oral epithelium and that PITX1 expression may serve as a novel biomarker for predicting prognosis in oral epithelial dysplasia. PMID:24527083

  1. PITX1 is a reliable biomarker for predicting prognosis in patients with oral epithelial dysplasia.

    PubMed

    Nakabayashi, Motoki; Osaki, Mitsuhiko; Kodani, Isamu; Okada, Futoshi; Ryoke, Kazuo; Oshimura, Mitsuo; Ito, Hisao; Kugoh, Hiroyuki

    2014-03-01

    Paired-like homeodomain 1 (PITX1) genes are essential in human development. In the present study, PITX1 protein expression was evaluated in human normal oral mucosa, oral epithelial dysplasia and oral squamous cell carcinoma (OSCC), with the aim of examining the expression patterns of these critical genes during the multi-stage transformation of oral epithelial dysplasia to OSCC. PITX1 and Ki-67 expression were assessed by immunohistochemistry in 26 individuals with normal oral mucosa, 106 patients with oral epithelial dysplasia and 97 OSCC patients. The labeling indices (LIs) of PITX1 and Ki-67 were calculated and their correlation with the incidence of malignancy was evaluated. The PITX1 LI of the dysplasia specimens was significantly lower than that of the normal oral mucosa samples, but significantly higher than that of the OSCC samples. The oral epithelial dysplasia patients that exhibited low PITX1 expression showed a significantly higher incidence of malignant transformation than those exhibiting high PITX1 expression, regardless of the histological grades of their oral epithelial dysplasias. On the other hand, no correlation was observed between the Ki-67 LI and the incidence of malignancy. These results suggested that PITX1 suppression is associated with malignant transformation in the oral epithelium and that PITX1 expression may serve as a novel biomarker for predicting prognosis in oral epithelial dysplasia.

  2. [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.

  3. Analysis of serum cytokine levels in larynx squamous cell carcinoma and dysplasia patients.

    PubMed

    Eyigor, Mete; Eyigor, Hulya; Osma, Ustun; Yilmaz, Mustafa Deniz; Erin, Nuray; Selcuk, Omer Tarik; Sezer, Cem; Gultekin, Meral; Koksoy, Sadi

    2014-12-01

    Although the imbalance of cytokines in Head and Neck Squamous Cell Carcinoma (HNSCC) is well known, there is scarce data regarding its occurrence during dysplasia, before the malignant transformation. To determine whether laryngeal dysplasia patients show a different cytokine profile than patients with cancer and healthy controls. Seventeen newly diagnosed, untreated larynx squamous cell carcinoma (SCC) and six laryngeal dysplasia patients as well as 22 healthy controls were analyzed for circulating cytokines. A flowcytometry Th1/Th2 cytokine array kit was used to quantitatively measure Interleukin-2 (IL-2), IL-4, IL-6, IL-10, Tumor Necrosis Factor-α (TNF-α) and Interferon-γ (IFN-γ) levels. Additionally, IL-8 levels were determined through ELISA. IL-6, IL-8 and IL-10 were determined to be statistically increased in SCC patients (p<0.05). IL-8 and IL-10 levels were also higher in SCC patients than dysplasia patients (p<0.05). Additionally, IL-6 and IL-10 were all found to be markedly increased in dysplasia patients compared with controls (p<0.05). Our results demonstrate an imbalance of IL-6 and IL-10 not only in HNSCC but also in laryngeal dysplasia.

  4. Copy number loss in the region of the ASPN gene in patients with acetabular dysplasia: ASPN CNV in acetabular dysplasia.

    PubMed

    Sekimoto, T; Ishii, M; Emi, M; Kurogi, S; Funamoto, T; Yonezawa, Y; Tajima, T; Sakamoto, T; Hamada, H; Chosa, E

    2017-07-01

    We have previously investigated an association between the genome copy number variation (CNV) and acetabular dysplasia (AD). Hip osteoarthritis is associated with a genetic polymorphism in the aspartic acid repeat in the N-terminal region of the asporin (ASPN) gene; therefore, the present study aimed to investigate whether the CNV of ASPN is involved in the pathogenesis of AD. Acetabular coverage of all subjects was evaluated using radiological findings (Sharp angle, centre-edge (CE) angle, acetabular roof obliquity (ARO) angle, and minimum joint space width). Genomic DNA was extracted from peripheral blood leukocytes. Agilent's region-targeted high-density oligonucleotide tiling microarray was used to analyse 64 female AD patients and 32 female control subjects. All statistical analyses were performed using EZR software (Fisher's exact probability test, Pearson's correlation test, and Student's t-test). CNV analysis of the ASPN gene revealed a copy number loss in significantly more AD patients (9/64) than control subjects (0/32; p = 0.0212). This loss occurred within a 60 kb region on 9q22.31, which harbours the gene for ASPN. The mean radiological parameters of these AD patients were significantly worse than those of the other subjects (Sharp angle, p = 0.0056; CE angle, p = 0.0076; ARO angle, p = 0.0065), and all nine patients required operative therapy such as total hip arthroplasty or pelvic osteotomy. Moreover, six of these nine patients had a history of operative or conservative therapy for developmental dysplasia of the hip. Copy number loss within the region harbouring the ASPN gene on 9q22.31 is associated with severe AD. A copy number loss in the ASPN gene region may play a role in the aetiology of severe AD.Cite this article: T. Sekimoto, M. Ishii, M. Emi, S. Kurogi, T. Funamoto, Y. Yonezawa, T. Tajima, T. Sakamoto, H. Hamada, E. Chosa. Copy number loss in the region of the ASPN gene in patients with acetabular dysplasia: ASPN CNV in acetabular

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

    PubMed

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

    2013-07-01

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

  6. Kidney Dysplasia

    MedlinePlus

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2017-01-01

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

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

    PubMed Central

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

    2017-01-01

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

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

    PubMed Central

    Haldar, Rudrashish; Gyanesh, Prakhar; Samanta, Sukhen

    2013-01-01

    Acromesomelic dysplasias are autosomal recessive osteochondrodysplasias. Acromesomelic dysplasia Maroteaux-type (AMDM), also known as St Helena dysplasia, is of two types: The classical and the mild variety. About 50 cases of AMDM have been reported till date, most of them being the classical variety. There is scarcity of literature on anesthesia for such patients. We are reporting a case of general anesthetic management of AMDM, associated with hydrocephalus, Arnold Chiari malformation type-1 and syringomyelia. The patient was a 10-year-old short-statured boy who presented with symptomatic thoracic kyphoscoliosis, gibbus deformity and back pain. On examination, there was no neurological deficit. Radiology revealed thoracic kyphoscoliosis, mild ventriculomegaly and upper cervical syringomyelia. The patient underwent posterior fossa decompression in the prone position under general anesthesia. We will discuss the anesthetic considerations for such patients and review the pertinent literature. PMID:24249999

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

    PubMed

    Haldar, Rudrashish; Gyanesh, Prakhar; Samanta, Sukhen

    2013-10-01

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

  12. High frequency oscillations mirror disease activity in patients with focal cortical dysplasia.

    PubMed

    Kerber, Karolin; LeVan, Pierre; Dümpelmann, Matthias; Fauser, Susanne; Korinthenberg, Rudolf; Schulze-Bonhage, Andreas; Jacobs, Julia

    2013-08-01

    The study analyzes the occurrence of high frequency oscillations in different types of focal cortical dysplasia in 22 patients with refractory epilepsy. High frequency oscillations are biomarkers for epileptic tissue, but it is unknown whether they can reflect increasingly dysplastic tissue changes as well as epileptic disease activity. High frequency oscillations (80-450 Hz) were visually marked by two independent reviewers in all channels of intracranial implanted grid, strips, and depth electrodes in patients with focal cortical dysplasia and refractory epilepsy. Rates of high frequency oscillations in patients with pathologically confirmed focal cortical dysplasia of Palmini type 1a and b were compared with those in type 2a and b. Patients with focal cortical dysplasia type 2 had significantly more seizures than those with type 1 (p < 0.001). Rates of high frequency oscillations were significantly higher in patients with focal cortical dysplasia type 2 versus type 1 (p < 0.001). In addition, it could be confirmed that rates of high frequency oscillations were significantly higher in presumed epileptogenic areas than outside (p < 0.001). Activity of high frequency oscillations mirrors the higher epileptogenicity of focal cortical dysplasia type 2 lesions compared to type 1 lesions. Therefore, rates of high frequency oscillations can reflect disease activity of a lesion. This has implications for the use of high frequency oscillations as biomarkers for epileptogenic areas, because a detailed analysis of their rates may be necessary to use high frequency oscillations as a predictive tool in epilepsy surgery. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

  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. Copyright © 2013 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.

  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. Copyright © 2013 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  15. Internal carotid artery surgical revascularization in a pediatric patient with Schimke immuno-osseous dysplasia.

    PubMed

    Westbroek, Erick M; Mukerji, Nitin; Kalanithi, Paul; Steinberg, Gary K

    2015-02-01

    Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, episodic lymphopenia, renal failure, and cerebrovascular disease secondary to arteriosclerosis and myointimal hyperplasia. In this paper the authors report the first known application of internal carotid artery (ICA) surgical revascularization to relieve a high-grade focal stenosis of the ICA in a pediatric patient, a 6-year-old boy with SIOD. The clinical presentation, imaging features, operative technique, and postoperative course are described and the molecular genetics, pathophysiology, and treatment considerations in SIOD are discussed.

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

    PubMed

    Velayos, Fernando; Kathpalia, Priya; Finlayson, Emily

    2017-02-01

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

  17. Three Patterns of Acetabular Deficiency Are Common in Young Adult Patients With Acetabular Dysplasia.

    PubMed

    Nepple, Jeffrey J; Wells, Joel; Ross, James R; Bedi, Asheesh; Schoenecker, Perry L; Clohisy, John C

    2017-04-01

    Detailed recognition of the three-dimensional (3-D) deformity in acetabular dysplasia is important to help guide correction at the time of reorientation during periacetabular osteotomy (PAO). Common plain radiographic parameters of acetabular dysplasia are limited in their ability to characterize acetabular deficiency precisely. The 3-D characterization of such deficiencies with low-dose CT may allow for more precise characterization. The purposes of this study were (1) to determine the variability in 3-D acetabular deficiency in acetabular dysplasia; (2) to define subtypes of acetabular dysplasia based on 3-D morphology; (3) to determine the correlation of plain radiographic parameters with 3-D morphology; and (4) to determine the association of acetabular dysplasia subtype with patient clinical characteristics including sex, range of motion, and femoral version. Using our hip preservation database, we identified 153 hips (148 patients) that underwent PAO from October 2013 to July 2015. Among those, we noted 103 hips in 100 patients with acetabular dysplasia (lateral center-edge angle < 20°) and who had a Tönnis grade of 0 or 1. Eighty-six patients (86%) underwent preoperative low-dose pelvic CT scans at our institution as part of the preoperative planning for PAO. It is currently our standard to obtain preoperative low-dose pelvic CT scans (0.75-1.25 mSv, equivalent to three to five AP pelvis radiographs) on all patients before undergoing PAO unless a prior CT scan was performed at an outside institution. Hips with a history of a neuromuscular disorder, prior trauma, prior surgery, radiographic evidence of joint degeneration, ischemic necrosis, or Perthes-like deformities were excluded. Fifty hips in 50 patients met inclusion criteria and had CT scans available for review. These low-dose CT scans of 50 patients with symptomatic acetabular dysplasia undergoing evaluation for surgical planning of PAO were then retrospectively studied. CT scans were analyzed

  18. [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.

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

    PubMed

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

    2013-10-01

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

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

    PubMed

    Anuroopa, A; Abdulla, Jafar; Lovely, M

    2012-04-01

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

  1. Surgery Navigation in Treating Congenital Midfacial Dysplasia of Patients With Facial Cleft.

    PubMed

    Li, Dong; Bai, Shanshan; Yu, Zheyuan; Xu, Liang; Yuan, Jie; Xu, Haisong; Wei, Min

    2017-09-01

    To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients. After 6 to 12 months of follow-up, the authors analyzed the differences between preoperative planning and postoperative results through computed tomography data. Patients were satisfied with surgery, and computed tomography data showed that there was little difference between preoperative planning and postoperative results with the navigation-assisted surgery. Using expanded frontal flap with navigation-assisted surgery for peri-pyriform advancement, the authors could treat congenital nasal deformity and midfacial dysplasia effectively, accurately, and safely in craniofacial cleft patients.

  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. 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.

  4. Assessment of DNA Damage in Leukoplakia Patients with Different Degrees of Dysplasia.

    PubMed

    Vellappally, Sajith; Binmgren, Mohammed A; Huraib, Sahar Bin; Hashem, Mohamed I; Patil, Sh'ankargouudda; Anil, Sukumaran

    2015-12-01

    Single cell gel electrophoresis (SCGE) assay also known as comet assay is a rapid and highly sensitive fluorescent molecular technique for detecting various forms of deoxyribonucleic acid (DNA) damage at individual cellular level. The present study was done to detect the extent of DNA damage in oral leukoplakia (OL) and compare with normal individuals. The sample population was obtained from an outpatient clinic of a tertiary teaching dental institute. A total of 36 consecutive patients with leukoplakia and 10 healthy normal volunteers were recruited for the study and assessed for the extent of DNA damage using SCGE following clinical diagnosis and histological grading. Peripheral blood was obtained by venipuncture and SCGE assay was performed. Mean comet tail length was recorded and analyzed statistically to compare the extent of damage in each group. The mean comet tail length seen in leukoplakia patients with moderate to severe dysplasia was 1.25 ± 0.14 mm while for the control subjects, it was 0.31 ± 0.10 mm. The difference was statistically significant (p = 0.000). On comparing within the grades of leukoplakia, a progressive trend of increasing tail length was observed with increasing grades of dysplasia. Deoxyribonucleic acid damage as measured by SCGE is seen in leukoplakia. A stepwise increase in DNA damage levels from healthy controls, through patients with non-dysplastic epithelium to varying grades of dysplasia has been observed indicating the extent of DNA damage in this high risk group.

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

    PubMed Central

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

    1987-01-01

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

  6. 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. © 2014 International Society for Diseases of the Esophagus.

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

    PubMed

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

    2015-01-01

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

  8. Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report.

    PubMed

    Quintanilha, Luís Eduardo Lavigne Paranhos; Carneiro-Campos, Luís Eduardo; Antunes, Lívia Azeredo Alves; Antunes, Leonardo Santos; Fernandes, Claudio Pinheiro; Abreu, Fernanda Volpe

    2017-01-01

    Hypohidrotic ectodermal dysplasia (HED) is a rare ectodermal disease with a systemic expression. Oral abnormalities are common and may include hypodontia and shape irregularities in the primary and permanent dentitions. Rehabilitation of the dental arches in pediatric patients with HED is a challenge because HED is a multifactorial disease that demands a complicated treatment approach and most dentists have limited experience or training in the necessary treatment. In addition, pediatric patients often lack the patience or ability to cooperate with complex prosthetic treatment. This case report describes a simplified technique used to fabricate complete dentures for a 4-year-old HED patient in 4 sessions.

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

    PubMed

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

    2016-06-01

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

  10. Retinal dysplasia of holoprosencephaly.

    PubMed

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

    2014-03-04

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

  11. 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

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

    PubMed

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

    2015-01-01

    Focal cortical dysplasia (FCD) is the most common cause of intractable epilepsy in children and adolescent. To evaluate the application value of magnetic source imaging (MSI) in treatment of magnetic resonance imaging (MRI)-negative FCD patients with epilepsy. MSI characteristics of 17 cases of MRI-negative focal cortical dysplasia patients with epilepsy were retrospectively analyzed. All patients were treated by surgery. 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%. MSI is a new prospective noninvasive functional neuroimaging technique for identifying and delineating epileptogenic foci in MRI-negative FCD patients.

  13. [Clinical value of cardiovascular magnetic resonance imaging in the diagnostic work-up of patients with suspected arrhythmogenic right ventricular dysplasia].

    PubMed

    Sánchez-Rubio, Juan; Carreras, Francesc; Pujadas, Sandra; Leta, Rubén; Guillaumet, Eva; Grande, Carlos; Viñolas, Xavier; Pons-Lladó, Guillem

    2005-09-01

    To analyze retrospectively the usefulness of cardiovascular magnetic resonance imaging in the assessment of patients with clinically suspected arrhythmogenic right ventricular dysplasia. We reviewed retrospectively findings from 46 consecutive patients (mean age, 42+/-19 years; 25 male) who were referred for investigation to rule out right ventricular dysplasia. Abnormal findings were classified according to the general diagnostic criteria established by the European Society of Cardiology. Evaluable images were available for all patients. Abnormal right ventricular findings were reported in 24 patients (52%), but only 5 were given a definite diagnosis of right ventricular dysplasia. Fatty infiltration was observed in 9 patients; it was an isolated finding in 6 but was associated with right ventricular contractile dysfunction in 3. These latter patients belonged to the group with confirmed dysplasia. None of the 22 patients (48%) with normal findings on magnetic resonance imaging was given a diagnosis of dysplasia. Cardiovascular magnetic resonance imaging enabled the right ventricle to be assessed in all patients. In those with clinically suspected dysplasia, normal findings ruled out the diagnosis. However, only 21% of those with abnormal findings on magnetic resonance imaging were finally given a confirmed diagnosis of dysplasia. Fatty infiltration of the right ventricular wall does not imply dysplasia unless it is associated with other abnormalities in right ventricular morphology or contractility. Cardiovascular magnetic resonance imaging is useful in the work-up of patients with clinically suspected arrhythmogenic right ventricular dysplasia.

  14. Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review.

    PubMed

    Wang, Y; He, J; Decker, A M; Hu, J C; Zou, D

    2016-08-01

    The purpose of this review was to determine the outcome of oral function reconstruction in ectodermal dysplasia (ED) patients who have received dental implant therapy. A search was made of the PubMed and Web of Science databases; key words used were "(ectodermal dysplasia) AND (implant OR implants)", with supplementary retrieval key words "dental implant", "zygomatic implant", "anodontia", and "edentulous". Patient age, use of bone graft, implant site, type of implant, and survival rate of the implants were included in the subsequent data analysis. Forty-five articles published between 1988 and October 2015 were included in this analysis. The cases of a total of 96 patients were retrieved (22 children and 74 adults); these patients received a total of 701 implants. Fourteen implants were removed during a median follow-up time of 24 months. The 24-month implant survival rate was 97.9% in adult subjects and 98.6% in children. Sixty-eight percent of adult patients underwent bone augmentation prior to implant placement. Based on this review, dental implants are commonly used in the oral reconstruction of ED patients. However, long-term data on bone augmentation and implant success are needed, as well as additional clinical evidence on bone resorption, the esthetic outcomes of implant therapy, and physiological considerations in ED patients. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  15. Total Hip Arthroplasty in Patients with Skeletal Dysplasia.

    PubMed

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

    2015-09-01

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

  16. Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.

    PubMed

    Al Kaissi, Ali; Ganger, Rudolf; Roetzer, Katharina M; Schwarzbraun, Thomas; Klaushofer, Klaus; Grill, Franz

    2013-02-01

    Disruption to endochondral ossification leads to delayed and irregular bone formation and can result in a heterogeneous group of genetic disorders known as osteochondrodysplasias. These genetic disorders arise through disturbances in the complex processes of skeletal growth causing development of unsightly skeletal deformities. METHODS : Each syndrome was diagnosed on the basis of detailed clinical and radiographic assessment. Lower limb deformities were the prime presenting feature. Here are presented three patients with diverse genetic syndromes, namely Wolcott-Rallison syndrome (WRS), Kniest dysplasia (KD) and Desbuquois dysplasia (DS). Genetic testing was performed in the patients with WRS and DS. The diagnosis of KD was made purely on a clinical and radiographic basis. Variable orthopaedic interventions to realign these patients' lower limbs were implemented with the aim of improving their balance and gait. The aim of this paper is twofold. The first part is to outline the importance of diagnosing the causes of various skeletal abnormalities in patients with osteochondrodysplasias by phenotypic and genotypic characterization. The second part is to demonstrate our techniques for surgical corrections in patients with joint laxity and malalignment and show how far techniques for growth modulation, re-alignment and ligament reconstruction have advanced. © 2013 Chinese Orthopaedic Association and Wiley Publishing Asia Pty Ltd.

  17. Walking patterns and hip contact forces in patients with hip dysplasia.

    PubMed

    Skalshøi, Ole; Iversen, Christian Hauskov; Nielsen, Dennis Brandborg; Jacobsen, Julie; Mechlenburg, Inger; Søballe, Kjeld; Sørensen, Henrik

    2015-10-01

    Several studies have investigated walking characteristics in hip dysplasia patients, but so far none have described all hip rotational degrees of freedom during the whole gait cycle. This descriptive study reports 3D joint angles and torques, and furthermore extends previous studies with muscle and joint contact forces in 32 hip dysplasia patients and 32 matching controls. 3D motion capture data from walking and standing trials were analysed. Hip, knee, ankle and pelvis angles were calculated with inverse kinematics for both standing and walking trials. Hip, knee and ankle torques were calculated with inverse dynamics, while hip muscle and joint contact forces were calculated with static optimisation for the walking trials. No differences were found between the two groups while standing. While walking, patients showed decreased hip extension, increased ankle pronation and increased hip abduction and external rotation torques. Furthermore, hip muscle forces were generally lower and shifted to more posteriorly situated muscles, while the hip joint contact force was lower and directed more superiorly. During walking, patients showed lower and more superiorly directed hip joint contact force, which might alleviate pain from an antero-superiorly degenerated joint. Copyright © 2015 Elsevier B.V. All rights reserved.

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

    PubMed

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

    2014-02-01

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

  19. 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.

  20. Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients.

    PubMed

    Remes, Ville M; Marttinen, Eino J; Poussa, Mikko S; Helenius, Ilkka J; Peltonen, Jari I

    2002-09-01

    In previous studies, typical radiological findings in the cervical spine of patients with diastrophic dysplasia (DD) have been kyphosis, displacement of the vertebrae, spina bifida occulta (SBO), anterior hypoplasia of vertebrae C3-5, and hyperplasia and dysmorphism of the odontoid process. To make a radiological analysis of the cervical spine in patients with DD. The study comprised 122 patients (50 males, 72 females), with an average age of 19 years (range newborn-63 years). Follow-up was available on 62 patients (51%), for an average duration of 11 years. Cervical spine alignment was measured according to Cobb's method. The height (H) and depth (D) of the vertebral body and sagittal diameter (S) of the spinal canal were measured. H/D and S/D ratios were then calculated from the measurements. The shape of the vertebrae was assessed. Displacement and movement of cervical vertebrae in neutral and bending radiographs were measured. RESULTS. The average lordosis in the last radiograph was 17(degrees) (range 4 degrees -55(degrees)). Five (4%) patients had a cervical kyphosis with an average of 92(degrees) (range 10-165(degrees)) on their last radiograph. The H/D ratio increased slowly during growth and showed significant correlation with age. There was no growth spurt at puberty. The S/D ratio was fairly stable until 7-8 years of age, when it started to decline slowly. The percentage of vertebrae with a flat vertebral body and narrow spinal canal value tended to increase with age. Vertebral hypoplasia and displacement between vertebrae were most common in the mid-cervical region and resolved spontaneously with age. Degenerative changes seemed to increase with age and were already visible during the second decade of life. SBO was noted in 79% of patients. The most common alignment in the cervical spine is lordosis in adulthood. The vertebral bodies are flattened and the spinal canal is narrowed. Vertebral body hypoplasia and displacement usually resolve spontaneously

  1. Arthroplasty in patients with congenital hip dysplasia--early evaluation of a treatment method.

    PubMed

    Bożek, Marek; Bielecki, Tomasz; Nowak, Roman; Żelawski, Maciej

    2013-01-01

    Developmental hip dysplasia (DHD) is the most common cause of secondary hip osteoarthritis (OA). It often leads to OA in young, active and working adults. The aim of our study is to evaluate the results of THA in patients with DHD. Total hip arthroplasty was performed in 15 patients with DHD - 13 women (average age - 39) and 2 men (average age - 44) between June 2010 to June 2011. Patient's hips were estimated by Crowe classification to evaluate the severity of degenerative arthritis. Patients we reassessed with Harris Hip Score before and after the surgery. The mean preoperative score was 44.6 points, directly after surgery 62.4 pts., 6 months after 78.6 points. After artrhroplasty, improvement was noted in walking stairs without railing, walking without support, sitting on chair for more than 1 hour. Before the surgery average difference in limbs" length was 4 cm After the treatment it was reduced to 0.5 cm. Mean hip flexion was 40 ° before, 90 ° after the surgery, mean abduction was respectively 0° and 25°. Our study proves that total hip arthroplasty in patients with developmental dysplasia of hip helps to improve stability and mobility of joint and to reduce the pain. 1. In the type 1 and 2 according to Crow's classification, good clinical results may be achieved using standard prosthesis stem sizes and press-fit acebutalar component with possibly the smallest diameter providing stable placing. 2. In the case of ty pe III good results are observed using acetabular press-fit method for fixing, after reconstruction of bone defects with osteogenous bone graft. 3. The usage of big head dimensions gives beneficial effects on the osseointegration of the acetabular component and reduces the risk of dislocation. 4. A short follow-up period of the group of patients presented requires further prospective study to evaluate the long-term results.

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

    PubMed Central

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

    2014-01-01

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

  3. 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

  4. 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."

  5. 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.

  6. 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

  7. 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

    2015-09-21

    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.

  8. Use of the translabyrinthine approach to repair congenital spontaneous cerebrospinal fluid leakage in five Chinese patients with Mondini dysplasia.

    PubMed

    Yi, H J; Guo, H; Ch, W; Yang, S M; Liu, P N

    2013-12-01

    To introduce a more effective surgical technique for the repair of spontaneous incurable cerebrospinal fluid (CSF) leakage (CSF otorrhea). The cases of five Chinese patients with Mondini dysplasia and CSF leakage were reviewed. All patients presented with rhinorrhea or otorrhea from childhood and recurrent meningitis attacks. CSF leakage was repaired surgically using the translabyrinthine approach. Facial paralysis occurred in the first two patients, but was cured 2 months later. The other three patients recovered well and had no facial paralysis or complication. CSF leakage did not recur in any patient after follow-up periods of 0.5-3 years. Mondini dysplasia with CSF leakage is rare. Adequate diagnosis and treatment are required to avoid life-threatening complications, such as meningitis. We recommend the translabyrinthine approach as an alternative surgical technique that reduces recurrence. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  9. Knee joint changes in patients with neglected developmental hip dysplasia: a prospective case-control study.

    PubMed

    Li, Qiwei; Kadhim, Muayad; Zhang, Lijun; Cheng, Xiangjun; Zhao, Qun; Li, Lianyong

    2014-12-01

    Few reports are available describing knee changes in neglected developmental dysplasia of the hip (DDH). The purpose of this study was to assess the radiographic morphology of knee joints in adults with neglected DDH. Thirty-seven patients (35 females and two males) with neglected DDH were prospectively recruited with an average age of 32.6 years. Twenty-three patients had unilateral and 14 patients had bilateral neglected DDH. Thirty-seven healthy individuals were recruited to form a matched control group. Three groups of knee joints were examined: affected knees (on the same side of the neglected DDH), unaffected knees (contralateral to the neglected DDH in patients with unilateral involvement), and control knees. A series of radiographic parameters of the knee joint were measured in the coronal and sagittal plane, and they were compared between patients and normal controls. In the coronal plane, the affected knees had increased valgus angulation related to increased height of the medial femoral condyle, decreased height of the lateral femoral condyle and decreased lateral distal femoral angle compared to control knees. In the sagittal plane, both distal femoral and proximal tibial joints of the affected knees developed a decrease in posterior angles. Additionally, the unaffected knees also developed radiographic changes compared to control knees. Patients with neglected DDH may develop changes in both knee joints. These changes should be considered during surgery to the hip, femur and knee to prevent potential complications. Level 2. Copyright © 2014 Elsevier B.V. All rights reserved.

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

    PubMed Central

    2011-01-01

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

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

    PubMed

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

    2011-06-08

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

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

    PubMed Central

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

    2015-01-01

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

  13. Full-mouth rehabilitation of a patient with ectodermal dysplasia with dental implants.

    PubMed

    Koyuncuoglu, Cenker Zeki; Metin, Suleyman; Saylan, Isil; Calısir, Kerem; Tuncer, Ozen; Kantarci, Alpdogan

    2014-12-01

    Oral findings in patients with ectodermal dysplasia (ED) include complete or partial hypodontia, anodontia, loss of vertical dimension of occlusion, protuberant lips, malformed and widely spaced conical-shaped teeth, and underdeveloped alveolar ridges. These patients present a substantial challenge in dental treatment. This case report presents oral rehabilitation of a 22-year-old male patient diagnosed with ED using an implant tooth-supported telescopic partial denture at the mandible and a tooth-supported telescopic partial denture at the maxilla. Implants in the mandible were placed at the sites of the right and left lateral incisor teeth. Following implant placement, the remaining buccal bone dehiscence was filled with deproteinized bovine bone graft and covered with resorbable membrane. To manage the vestibular insufficiency and to increase the keratinized mucosa in maxilla, bilateral acellular dermal matrix allograft was used on the right and left buccal aspects. The treatment described here improved the patient's functional and esthetic status while significantly restoring his oral health and self-esteem.

  14. Carotid-bulb atypical fibromuscular dysplasia in young Afro-Caribbean patients with stroke.

    PubMed

    Joux, Julien; Chausson, Nicolas; Jeannin, Séverine; Saint-Vil, Martine; Mejdoubi, Mehdi; Hennequin, Jean-Luc; Deschamps, Lydia; Smadja, Didier; Olindo, Stéphane

    2014-12-01

    An atypical form of fibromuscular dysplasia located in the internal carotid-bulb (CaFMD) is thought to be uncommon and is poorly described as a cause of ischemic stroke in the young. This study aimed to obtain a better description of CaFMD in Afro-Caribbean population, who could be particularly affected by it. This study included consecutive patients <55 years consulting at Fort-de-France University Hospital Stroke Center (Martinique, FWI) found to have CaFMD as the only cause after a comprehensive work-up. CaFMD was diagnosed when computed tomographic angiography showed a bulbar spur without calcification. Twenty-five patients with stroke and CaFMD were identified. Computed tomographic angiography showed 2 CaFMD patterns: a thin (n=15) or thick (n=10) spur. Three patients initial computed tomographic angiography images showed a mural thrombus overlying the CaFMD. CaFMD was surgically removed from 7 of 25 and 20 of 25 patients who received antiplatelet therapy; after mean follow-up of 25.3±19.5 months, their respective recurrence rates were 0% and 30%. CaFMD could be a common condition in young Afro-Caribbeans with carotid-territory ischemic stroke. Recurrences were frequent under antiplatelet treatment, while surgical CaFMD removal seemed more effective. © 2014 American Heart Association, Inc.

  15. Long-term seizure outcome in 211 patients with focal cortical dysplasia.

    PubMed

    Fauser, Susanne; Essang, Charles; Altenmüller, Dirk-Matthias; Staack, Anke Maren; Steinhoff, Bernhard J; Strobl, Karl; Bast, Thomas; Schubert-Bast, Susanne; Stephani, Ulrich; Wiegand, Gert; Prinz, Marco; Brandt, Armin; Zentner, Josef; Schulze-Bonhage, Andreas

    2015-01-01

    Focal cortical dysplasia (FCD) is currently recognized as the most common cause of neocortical pharmacoresistant epilepsy. Epilepsy surgery has become an increasingly successful treatment option. Herein, the largest patient cohort reported to date is analyzed regarding long-term outcome and factors relevant for long-term seizure control. Two hundred eleven children and adults undergoing epilepsy surgery for histologically proven FCD and a follow-up period of 2-12 years were analyzed regarding the longitudinal course of seizure control, effects of FCD type, localization, magnetic resonance imaging (MRI), timing of surgery, and postoperative antiepileptic treatment. After 1 year, Engel class I outcome was achieved in 65% of patients and the percentage of seizure-free patients remained stable over the following (up to 12) years. Complete resection of the assumed epileptogenic area, lower age at surgery, and unilobar localization were positive prognostic indicators of long-term seizure freedom. Seizure recurrence was 12% after the first year, whereas 8% achieved late seizure freedom either following additional introduction of antiepileptic drugs (AEDs) (4%), a reoperation (2%), or a running down phenomenon (2%). Thirty-nine percent of patients had a reduction of AED from polytherapy to monotherapy or a complete cessation of AED treatment. Late seizure relapse was seen in nine patients during reduction of AEDs (i.e., in 12% of all patients with AED tapering); in four of them seizures persisted after reestablishment of antiepileptic medication. Postoperative long-term seizure outcome was favorable in patients with FCD and remained stable in 80% of patients after the first postoperative year. Several preoperative factors revealed to be predictive for the postoperative outcome and may help in the preoperative counseling of patients with FCD and in the selection of ideal candidates for epilepsy surgery. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

  16. Fragmented QRS complex predicts the arrhythmic events in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.

    PubMed

    Canpolat, Uğur; Kabakçi, Giray; Aytemir, Kudret; Dural, Muhammet; Sahiner, Levent; Yorgun, Hikmet; Sunman, Hamza; Bariş Kaya, Ergün; Tokgözoğlu, Lale; Oto, Ali

    2013-11-01

    Fragmented QRS (frQRS) complex, with various morphology, has been recently described as a diagnostic criterion of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). However, there are little data regarding the prognostic role of frQRS in these patients. Therefore, we aimed to investigate the association of frQRS with arrhythmic events in patients with ARVC/D. Seventy-eight patients (51 men, 65.4%; mean age: 31.25 ± 11.5 years) with the diagnosis of ARVC/D according to 2010 modified Task Force Criteria were analyzed retrospectively. Baseline ECG evaluation revealed frQRS complex in 46 patients (59%). Eleven patients with complete/incomplete right bundle branch block were excluded from the study. The phenomenon of frQRS was defined as deflections at the beginning of the QRS complex, on top of the R-wave, or in the nadir of the S-wave similar to the definition in CAD in either one right precordial lead or in more than one lead including all standard ECG leads. During 38 ± 14 months follow-up period, 3 patients (3.8%) died suddenly, 36 patients (46.1%) experienced arrhythmic events (32 ventricular tachycardias [VTs] and 4 ventricular fibrillation [VF], 30 in the ICD group). The frQRS was significantly associated with arrhythmic events (P < 0.001). Also, the number of ECG leads with frQRS complex was higher in patients with arrhythmic events (5.08 ± 2.5 vs 1.14 ± 1.7, P < 0.001, respectively). The frQRS complex on standard 12-lead ECG predicts fatal and nonfatal arrhythmic events in patients with ARVC/D. Therefore, large scale and prospective studies are needed to confirm those findings. © 2013 Wiley Periodicals, Inc.

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

    PubMed

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

    2014-02-01

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

  18. 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

  19. Severe cartilage degeneration in patients with developmental dysplasia of the hip.

    PubMed

    Feng, Wei-Jia; Wang, Hui; Shen, Chao; Zhu, Jun-Feng; Chen, Xiao-Dong

    2017-03-01

    Developmental dysplasia of the hip (DDH) is a developmental disorder that has long-term chronic pain and limited hip joint mobility as major pathological characteristics. This study aims to access the association between the development of DDH and cartilage metabolic disorders. Cartilage tissue samples were acquired from patients with DDH, osteoarthritis (OA) and femoral neck fracture. The proteoglycan level was evaluated by safranin O-fast green, toluidine blue and hematoxylin-eosin (HE) staining. The levels of collagen-II (Col-II), collagen-X (Col-X) and metal matrix proteinase-13 (MMP-13) were evaluated by immunohistochemistry (IHC) and Western blotting analysis. The morphologic evaluation of cartilage was conducted by transmission electron microscopy (TEM). Quantitative real-time polymerase chain reaction (qRT-PCR) was performed to detect the mRNA level of aggrecan, Col-II, Col-X and MMP-13. The aggrecan level in the cartilage matrix was significantly decreased in DDH patients by safranin O-fast green and toluidine blue staining in comparison with that in the OA and control groups. In contrast with the OA group, the Col-II expression was reduced while the MMP-13 expression increased in DDH patients, as shown by IHC and Western blotting analysis. The collagenous fibrils in cartilage of DDH patients appeared significantly sparse and disordered in the TEM analysis. In DDH patients, the mRNA expression levels of Col-II and aggrecan were markedly reduced, while the mRNA expression of Col-X was markedly increased, compared with the OA patients. There is severe articular cartilage degeneration in DDH patients. This observation provides us with new insight into cartilage metabolic regulation in DDH. © 2017 IUBMB Life, 69(3):179-187, 2017. © 2017 International Union of Biochemistry and Molecular Biology.

  20. 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. © 2013 by the American College of Prosthodontists.

  1. [Risk of developmental dysplasia of the hip in patients subjected to the external cephalic version].

    PubMed

    Sarmiento Carrera, Nerea; González Colmenero, Eva; Vázquez Castelo, José Luis; Concheiro Guisán, Ana; Couceiro Naveira, Emilio; Fernández Lorenzo, José Ramón

    2017-05-03

    Developmental dysplasia of the hip (DDH) refers to the spectrum of abnormalities of maturation and development of the hip. Breech presentation is associated with DDH. This risk factor can be modified by external cephalic version (ECV). The aim of this study is to evaluate the incidence of DDH in patients who successfully underwent ECV, as well as to evaluate need for these children (breech for a period during gestation) to be included in the DDH screening protocol. A prospective cohort study was conducted in the Hospital Universitario de Vigo from January 1, 2015 to December 31, 2015. It included children born in cephalic presentation after a successful ECV, as well as children born in breech presentation. They all were screened for DDH by ultrasound examination of the hip. Out of a total of 122 newborns included in the study, ECV was attempted on 67 (54.9%), of which 35 (52.2%) were successful. Out of the 14 children diagnosed with DDH, 3 of those born in cephalic presentation after a successful ECV were found to be normal on physical examination. Successful ECV is associated with a lower incidence of DDH as regards breech presentation. However, these patients should be included in the DDH screening protocol for the early detection of this disorder. Copyright © 2017. Publicado por Elsevier España, S.L.U.

  2. 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. © 2015 Wiley Periodicals, Inc.

  3. [MRI and arrhythmogenic right ventricular dysplasia (ARVD). Retrospective evaluation of 50 patients].

    PubMed

    Dumousset, E; Alfidja, A; Lamaison, D; Ponsonnaille, J; Ravel, A; Garcier, J M; Boyer, L

    2004-03-01

    To retrospectively evaluate the contribution of MRI to the diagnosis of arrhythmogenic right ventricular dysplasia (ARVD). Thirty two men and 18 women (mean age: 48.7 years) were imaged using gated spin echo scans and short axis cine MR. References were McKenna criteria (gold standard), and also what we called "strong presumption" which may correspond to early or localized patterns, but correspond to negative McKenna scores. One patient was claustrophobic; another one was lost to follow-up. In reference to McKenna score, diagnosis of ARVD was established in 12 patients (2 of whom had familial dilated biventricular cardiomyopathy with rhythmic expression). Sensitivity, specificity, positive predictive value, negative predictive value and prevalence were respectively: 75%, 75%, 50%, 90% and 25%. Using "strong presumption" criteria, we observed 14 true positives (with sensitivity of 82%, specificity of 87%, PPV of 78%, NPV of 90% and prevalence of 35%). In our group, MRI was always performed before angiography. In our series, right ventricular wall T1W hyperintensity was the most frequent finding.

  4. Ectodermal dysplasias.

    PubMed

    Itin, Peter H; Fistarol, Susanna K

    2004-11-15

    Ectodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic). The ectodermal dysplasias, as a rule, are not pure "one-layer diseases." Mesodermal and, rarely, endodermal dysplasias coexist. Embryogenesis exhibits distinct tissue organizational fields and specific interactions among the germ layers that may lead to a wide range of ectodermal dysplasias when genes important for development are mutated or otherwise altered in expression. Of the approximately 200 different ectodermal dysplasias, about 30 have been studied at the molecular level with identification of the causative gene. Freire-Maia and Pinheiro used the clinical aspects for their classification, and Priolo integrated molecular genetic and clinical aspects for her scheme. Those two more historical classification schemes have the difficulty that, when applied strictly, several additional groups of diseases should be integrated within the term "ectodermal dysplasias," e.g. keratodermas with skin or hair alterations or the ichthyoses with associated features. Such consequent classification would lead to an endless list of diseases and would be useless for the practical work. Recent evidence implicates a genetic defect in different pathways orchestrating ectodermal organogenesis. Modern molecular genetics will increasingly elucidate the basic defects of the different syndromes and yield more insight into the regulatory mechanisms of embryology. In this way, a reclassification of ectodermal dysplasias will be possible according to the function of their involved mutated genes. Lamartine recently proposed a helpful classification according to the functions of the genes discovered in different types of ectodermal dysplasias

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

    PubMed Central

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

    2016-01-01

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

  6. Corpora amylacea in the neocortex in patients with temporal lobe epilepsy and focal cortical dysplasia.

    PubMed

    Estupiñán-Díaz, B O; Morales-Chacón, L M; García-Maeso, I; Lorigados-Pedre, L; Báez-Martín, M; García-Navarro, M E; Trápaga-Quincoses, O; Quintanal-Cordero, N; Prince-López, J; Bender-del Busto, J E

    2015-03-01

    Corpora amylacea (CoA) are present in about 60% of atrophic hippocampi resected from patients with drug resistant temporal lobe epilepsy (DRTLE). They have also been described in the lateral temporal neocortex, although less frequently. The objective is to measure the presence, distribution and density of CoA in the lateral temporal lobes of patients with DRTLE and focal cortical dysplasia (FCD), also examining how CoA density may be linked to demographic and clinical traits. Resected tissue from 35 patients was analysed. CoA density was assessed with a semi-quantitative scale according to the criteria established by Cherian et al. Presence of CoA in the neocortex of 9 patients was associated with hippocampal sclerosis (FCD type iiia, 7 cases), disembryoplastic neuroepithelial tumour (FCD type iiib, 1 case), and cavernous angioma (FCD type iiic, 1 case). The meningeal surface (MS) was involved in all cases, and 8 cases displayed CoA in the cerebral parenchyma (white matter) and around blood vessels. CoA density on the MS showed a negative correlation with age at seizure onset (r = -0.828, P<.05) and a positive correlation with disease duration (r = 0.678, P<.05) but not with postoperative clinical outcome. Patients with DRTLE and a primary lesion (hippocampal sclerosis, tumour, vascular malformation) associated with mild FCD were shown to have CoA deposits in the neocortex. No association was found between presence of CoA and clinical outcome one year after surgery. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  7. Incidence, Risk Factors, and Outcomes of Colorectal Cancer in Patients With Ulcerative Colitis With Low-Grade Dysplasia: A Systematic Review and Meta-analysis.

    PubMed

    Fumery, Mathurin; Dulai, Parambir S; Gupta, Samir; Prokop, Larry J; Ramamoorthy, Sonia; Sandborn, William J; Singh, Siddharth

    2017-05-01

    Little is known about outcomes of patients with ulcerative colitis with low-grade dysplasia (UC-LGD). We estimated the incidence of and risk factors for progression to colorectal cancer (CRC) in cohorts of patients with UC-LGD who underwent surveillance (surveillance cohort), and the prevalence of dysplasia-related findings among patients who underwent colectomy for UC-LGD (surgical cohort). We performed a systematic literature review through June 1, 2016, to identify cohort studies of adults with UC-LGD. We estimated pooled incidence rates of CRC and risk factors associated with dysplasia progression in surveillance cohorts, and prevalence of synchronous advanced neoplasia (CRC and/or high-grade dysplasia) in surgical cohorts. In 14 surveillance cohort studies of 671 patients with UC-LGD (52 developed CRC), the pooled annual incidence of CRC was 0.8% (95% confidence interval [CI], 0.4-1.3); the pooled annual incidence of advanced neoplasia was 1.8% (95% CI, 0.9-2.7). Risk of CRC was higher when LGD was diagnosed by expert gastrointestinal pathologist (1.5%) than by community pathologists (0.2%). Factors significantly associated with dysplasia progression were concomitant primary sclerosing cholangitis (odds ratio [OR], 3.4; 95% CI, 1.5-7.8), invisible dysplasia (vs visible dysplasia; OR, 1.9; 95% CI, 1.0-3.4), distal location (vs proximal location; OR, 2.0; 95% CI, 1.1-3.7), and multifocal dysplasia (vs unifocal dysplasia; OR, 3.5; 95% CI, 1.5-8.5). In 12 surgical cohort studies of 450 patients who underwent colectomy for UC-LGD, 34 patients had synchronous CRC (pooled prevalence, 17%; 95% CI, 8-33). In a systematic review of the literature, we found that among patients with UC-LGD under surveillance, the annual incidence of progression to CRC was 0.8%; differences in rates of LGD diagnosis varied with pathologists' level of expertise. Concomitant primary sclerosing cholangitis, invisible dysplasia, distal location, and multifocal LGD are high-risk features

  8. Patient factors associated with delayed diagnosis of developmental dysplasia of the hip.

    PubMed

    Lindberg, A W; Bompadre, V; Satchell, E K; Larson, A C R; White, K K

    2017-06-01

    Early detection and intervention for developmental dysplasia of the hip (DDH) is important for normal hip development. Previous studies have shown disparities in access to paediatric specialty care among different racial and socioeconomic backgrounds. This study aims to identify whether these factors are related to timely referral for infants with DDH. A retrospective cohort study of patients seen and treated for DDH between July 2006 and June 2011 at a single institution were reviewed. The patients were divided into early-presenting (seen before six months of age) and late-presenting patients (seen at six months of age or later). A total of 457 patients met the eligibility criteria. There were 378 early and 79 late presentations. Late presentations were significantly more likely to be vertex at birth (85% vs 41%, p < 0.001). Bivariate analysis also demonstrated that late presentations were more likely to be non-white (65% vs 45%, p = 0.004), non-English speaking (20% vs 8%, p = 0.003), from lower income areas ($70 769 vs $61 591, p < 0.001) and hold public insurance (25%, p = 0.001). However, a logistic multiple regression analysis showed that only vertex birth presentation (p = 0.000), absent family history of DDH (p = 0.047) and affected right side (p = 0.001) were significantly associated with late presentation. Despite screening algorithms to facilitate early diagnosis of infants with DDH, better research is needed to understand how different demographic and socioeconomic factors play into the delayed access to paediatric orthopaedic care for DDH so that we may ultimately improve rates of early treatment.

  9. Induced pluripotent stem cells from patients with focal cortical dysplasia and refractory epilepsy.

    PubMed

    Marinowic, Daniel Rodrigo; Majolo, Fernanda; Sebben, Alessandra Deise; da Silva, Vinicius Duval; Lopes, Tiago Giuliani; Paglioli, Eliseu; Palmini, André; Machado, Denise Cantarelli; da Costa, Jaderson Costa

    2017-04-01

    Focal cortical dysplasia (FCD) is caused by numerous alterations, which can be divided into abnormalities of the cortical architecture and cytological variations; however, the exact etiology of FCD remains unknown. The generation of induced pluripotent stem cells (iPSCs) from the cells of patients with neurological diseases, and their subsequent tissue‑specific differentiation, serves as an invaluable source for testing and studying the initial development and subsequent progression of diseases associated with the central nervous system. A total of 2 patients demonstrating seizures refractory to drug treatment, characterized as FCD Type IIb, were enrolled in the present study. Fibroblasts were isolated from residual skin fragments obtained from surgical treatment and from brain samples obtained during surgical resection. iPSCs were generated following exposure of fibroblasts to viral vectors containing POU class 5 homeobox 1 (OCT4), sex determining region Y‑box 2 (SOX2), Kruppel‑like factor 4 and c‑MYC genes, and were characterized by immunohistochemical staining for the pluripotent markers homeobox protein NANOG, SOX2, OCT4, TRA1‑60 and TRA1‑81. The brain samples were tested with antibodies against protein kinase B (AKT), phosphorylated‑AKT, mechanistic target of rapamycin (mTOR) and phosphorylated‑mTOR. Analysis of the AKT/mTOR pathway revealed a statistically significant difference between the cerebral tissues of the two patients, which were of different ages (45 and 12 years old). Clones with the morphological features of embryonic cells were detected on the 13th day and were characterized following three subcultures. The positive staining characteristics of the embryonic cells confirmed the successful generation of iPSCs derived from the patients' fibroblasts. Therefore, the present study presents a method to obtain a useful cellular source that may help to understand embryonic brain development associated with FCD.

  10. Osteoarthritis of the hip joint in elderly patients is most commonly atrophic, with low parameters of acetabular dysplasia and possible involvement of osteoporosis.

    PubMed

    Ishidou, Yasuhiro; Matsuyama, Kanehiro; Sakuma, Daisuke; Setoguchi, Takao; Nagano, Satoshi; Kawamura, Ichiro; Maeda, Shingo; Komiya, Setsuro

    2017-12-01

    As elderly patients with hip osteoarthritis aged, acetabular dysplasia parameters decreased (Sharp's angle, acetabular roof obliquity angle, and acetabular head index) and the incidence of the atrophic type increased. Vertebral body fracture was more frequent in the atrophic type, suggesting the involvement of osteoporosis at the onset of hip osteoarthritis. Osteoarthritis (OA) is associated with increased bone formation at a local site. However, excessive bone resorption has also been found to occur in the early stages of OA. Osteoporosis may be involved in the onset of OA in elderly patients. We conducted a cross-sectional radiographic study of patients with hip OA and examined the association between age and factors of acetabular dysplasia (Sharp's angle, acetabular roof obliquity angle, and acetabular head index) as well as the osteoblastic response to determine the potential involvement of osteoporosis. This study included 366 patients (58 men, 308 women) who had undergone total hip arthroplasty for the diagnosis of hip OA. We measured the parameters of acetabular dysplasia using preoperative frontal X-ray images and evaluated each patient according to Bombelli classification of OA (hypertrophic, normotrophic, or atrophic type). As the patients aged, the parameters of acetabular dysplasia decreased. The incidence of the atrophic type of OA was significantly higher in older patients. Vertebral body fractures were more frequent in the atrophic type than in the other types. Additionally, the index of acetabular dysplasia was lower in the atrophic type. By contrast, the hypertrophic type was present in relatively younger patients and was associated with an increased index of acetabular dysplasia. In elderly patients with hip OA, the parameters of acetabular dysplasia decreased and the incidence of the atrophic type increased as the patients aged. The frequency of vertebral body fracture was high in patients with the atrophic type, suggesting the involvement of

  11. Prosthodontic Management of Hypohidrotic Ectodermal Dysplasia with Anodontia: A Case Report in Pediatric Patient and Review of Literature

    PubMed Central

    Ladda, R; Gangadhar, SA; Kasat, VO; Bhandari, AJ

    2013-01-01

    Ectodermal dysplasias are rare hereditary disorders characterized by abnormal development of certain tissues and structures of ectodermal origin. The condition is important for dentists as it affects teeth resulting in hypodontia or anodontia and dentist plays an important role in rehabilitation of the patient. Affected young children with anodontia not only have difficulties in eating and speaking but can also feel that they look different from their contemporaries. Well-fitting and functioning prosthesis could be a great help during their schooling years as it will improve appearance and thus boost their self confidence. We report a case of hypohidrotic ectodermal dysplasia in an 8-year-old boy who exhibited anodontia and was successfully rehabilitated with conventional complete dentures in both maxillary and mandibular arches. The aim of the treatment was to improve psychological development apart from promoting better functioning of the stomatognathic system. PMID:23919206

  12. Random biopsies during surveillance colonoscopy increase dysplasia detection in patients with primary sclerosing cholangitis and ulcerative colitis.

    PubMed

    Navaneethan, Udayakumar; Kochhar, Gursimran; Venkatesh, Preethi G K; Bennett, Ana E; Rizk, Maged; Shen, Bo; Kiran, Ravi P

    2013-12-01

    Patients with primary sclerosing cholangitis (PSC) and ulcerative colitis (UC) are at increased risk of colon dysplasia. The role of random vs. target biopsies in these patients has not been investigated. Our aim was to evaluate the yield and clinical impact of random biopsies during surveillance colonoscopies in patients with PSC-UC. Data from 71 patients (267 colonoscopies) with PSC and UC, who underwent surveillance colonoscopies and followed-up from 2001 to 2011 was obtained. Colonoscopy and pathology reports were reviewed to assess the yield of random biopsies. A total of 3975 (median 12) random biopsies were taken during surveillance colonoscopies. Overall, neoplasia was detected in 22 colonoscopies (16 patients): in 8 colonoscopies (36.4%) by targeted biopsies only and in 4 (18.2%) by both targeted and random biopsies. Neoplasia was detected in random biopsies only in 10 (45.5%) colonoscopies in 8 patients. On multivariate analysis, duration of UC (Odds ratio [OR]=1.40; 95% confidence interval [CI], 1.08-1.81; P=0.01), number of random biopsies (per increase by 8) (OR=1.64; 95% CI, 1.18-2.28; P=0.003) and target biopsies during colonoscopy (OR=9.08; 95% CI, 3.18-26.0; P<0.001) independently predicted the presence of dysplasia; endoscopic features of prior inflammation did not. Random biopsies significantly increase the yield of dysplasia in patients with PSC and UC even in the absence of endoscopic features of prior inflammation and significantly impact clinical outcomes. Copyright © 2013 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.

  13. 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.

  14. Nearly a Third of High-Grade Dysplasia and Colorectal Cancer Is Undetected in Patients with Inflammatory Bowel Disease.

    PubMed

    Eluri, Swathi; Parian, Alyssa M; Limketkai, Berkeley N; Ha, Christina Y; Brant, Steven R; Dudley-Brown, Sharon; Efron, Jonathan E; Fang, Sandy G; Gearhart, Susan L; Marohn, Michael R; Meltzer, Stephen J; Bashar, Safar; Truta, Brindusa; Montgomery, Elizabeth A; Lazarev, Mark G

    2017-06-19

    It is unclear whether intensive surveillance protocols have resulted in a decreased incidence of colorectal cancer (CRC) in inflammatory bowel disease (IBD). To determine the prevalence and characteristics of IBD associated high-grade dysplasia (HGD) or CRC that was undetected on prior colonoscopy. This is a single-center, retrospective study from 1994 to 2013. All participants had a confirmed IBD diagnosis and underwent a colectomy with either HGD or CRC found in the colectomy specimen.The undetected group had no HGD or CRC on prior colonoscopies. The detected group had HGD or CRC identified on previous biopsies. Of 70 participants, with ulcerative colitis (UC) (n = 47), Crohn's disease (CD) (n = 21), and indeterminate colitis (n = 2), 29% (n = 20) had undetected HGD/CRC at colectomy (15 HGD and 5 CRC). In the undetected group, 75% had prior LGD, 15% had indefinite dysplasia, and 10% had no dysplasia (HGD was found in colonic strictures). Patients in the undetected group were more likely to have pancolitis (55 vs. 20%) and multifocal dysplasia (35 vs. 8%). The undetected group was less likely to have CRC at colectomy (25 vs. 62%). There was a trend toward right-sided HGD/CRC at colectomy (40 vs. 20%; p = 0.08). In addition, 84% of the lesions found in the rectum at colectomy were not seen on prior colonoscopy in the undetected group. The prevalence of previously undetected HGD/CRC in IBD found at colectomy was 29%. The high proportion of undetected rectal and right-sided HGD/CRC suggests that these areas may need greater attention during surveillance.

  15. Clinical outcomes in patients with a diagnosis of "indefinite for dysplasia" in Barrett's esophagus: a multicenter cohort study.

    PubMed

    Sinh, Preetika; Anaparthy, Rajeswari; Young, Patrick E; Gaddam, Srinivas; Thota, Prashanthi; Balasubramanian, Gokulakrishnan; Singh, Mandeep; Higbee, April D; Wani, Sachin; Gupta, Neil; Rastogi, Amit; Mathur, Sharad C; Bansal, Ajay; Horwhat, John D; Cash, Brooks D; Falk, Gary W; Lieberman, David A; Vargo, John J; Sampliner, Richard E; Sharma, Prateek

    2015-08-01

    Data are limited on the natural history of patients with Barrett's esophagus with a diagnosis of "indefinite for dysplasia" (IND). The aims of this study were to: (i) determine rates of progression to high grade dysplasia (HGD) or esophageal adenocarcinoma, and compare these with rates for low grade dysplasia (LGD); and (ii) determine the proportion of patients whose histological IND diagnosis changed on follow-up endoscopy. Demographic, endoscopic, and histologic information of patients with diagnoses of IND and LGD and at least 12 months of follow-up were extracted from the database of a multicenter Barrett's esophagus study. Rates and times for progression to HGD and esophageal adenocarcinoma and regression to nondysplastic epithelium were calculated. Proportions of diagnoses upgraded to HGD/esophageal adenocarcinoma or downgraded to nondysplastic epithelium at first follow-up endoscopy were evaluated. Amongst 2264 patients, 83 with a diagnosis of IND (mean age 60 years, 95 % men, 95 % white; mean follow-up 5.6 years) and 79 with diagnosis of LGD were identified. In the IND group, annual incidences of esophageal adenocarcinoma and HGD were 0.21 % and 0.64 %, respectively, representing a combined incidence of 0.8 %. Mean time to progression was 4.72 years. Within the IND group 55 % patients showed regression to nondysplastic epithelium at first follow-up endoscopy and the overall regression rate was 80 %. Corresponding rates in LGD patients were similar. Lesions diagnosed as IND and LGD show similar biological behavior and can be treated as a single category with respect to surveillance and follow-up. © Georg Thieme Verlag KG Stuttgart · New York.

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

    PubMed

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

    2008-01-01

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

  17. 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.

  18. Preoperative halo-gravity traction with and without thoracoscopic anterior release for skeletal dysplasia patients with severe kyphoscoliosis.

    PubMed

    Pourtaheri, Sina; Shah, Suken A; Ditro, Colleen P; Holmes, Laurens; Mackenzie, William G

    2016-04-01

    Recent work has shown the safety and efficacy of halo-gravity traction as an operative adjunct. However, there are no reports specifically looking at halo-gravity traction in patients with skeletal dysplasia. Our purpose was to assess the safety and efficacy of traction in children with skeletal dysplasia who present with severe kyphoscoliosis. We retrospectively reviewed eight consecutive children with skeletal dysplasia who were treated with halo-gravity traction preoperatively. Six of the patients had a thoracoscopic anterior release prior to the halo-gravity traction. All patients were ambulatory and presented with severe, rigid kyphoscoliosis. The mean duration of traction was 32 days. There were no neurologic complications with traction or after posterior spinal instrumentation. The majority of kyphoscoliosis correction was with the halo-gravity traction alone: major curve (MC) Cobb angle improved 41 %; C7-center sacral vertical line, 75 %; C7-MC apex, 21 %; and T2-T12 kyphosis, 35 %. Trunk height increased 37 % and thoracic height 44 %. An additional amount of correction was obtained with posterior spinal instrumentation (±fusion), decreasing MC Cobb angle an additional 23 %; C7-apex, 16 %; and T2-T12 kyphosis, 10 %. There was no additional correction of thoracic height. Two years after posterior spinal instrumentation (±fusion), a mild-to-moderate amount of correction was lost: MC Cobb angle decreased 23 %; compensatory Cobb angle, 28 %; C7-CSVL, 24 %; C7-S1, 22 %; regional kyphosis, 31 %; thoracic kyphosis, 29 %; and trunk height, 27 %. Among children with skeletal dysplasia and severe kyphosis, halo-gravity traction is well tolerated and safe. Most of the corrections in radiographic parameters were achieved with traction alone. Traction improves coronal balance, apical translation, thoracic height, and kyphosis. In this specific population, the potential for neurologic injury during corrective surgery is high. However, preoperative halo

  19. 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. ©2014 The British Editorial Society of Bone & Joint Surgery.

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

    PubMed

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

    2016-09-19

    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.

  1. Full Mouth Implant-supported Rehabilitation of a Patient with Ectodermal Dysplasia: Clinical Report and Literature Review.

    PubMed

    Kutkut, Ahmad; Abu-Eid, Rasha; Sharab, Lina; Abadi, Behruz; Van Sickels, Joseph

    2015-04-01

    The purpose of this case report is to present the clinical course of full mouth rehabilitation in an 1 8-year-old female patient with ectodermal dysplasia who was treated with implant-supported fixed partial dentures for the mandible and the maxilla. Fourteen dental implants (8 in the maxilla and 6 in the mandible) were placed simultaneously after full mouth extraction and alveoloplasty surgery. After 6 months of healing, prosthetic rehabilitation was started for screw-retained fixed partial dentures. The patient was followed for one year and a peri-implant maintenance regime established for six-month recalls. The patient was satisfied with the prosthesis both esthetically and functionally. Furthermore, the patient reported significant improvements in oral function and psychosocial activities. The use of dental implants to support full mouth prosthetic rehabilitation for adolescents with ectodermal dysplasia may provide a considerable improvement in function and esthetic compared to conventional removable prosthetic options. This has the potential to enhance the quality of life for these patients.

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

    PubMed Central

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

    2016-01-01

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

  3. 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. Copyright © 2012 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

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

    PubMed

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

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

  5. [Usefulness of systematic chromoendoscopy with a double dye staining technique for the detection of dysplasia in patients with premalignant gastric lesions].

    PubMed

    Yep-Gamarra, Víctor; Díaz-Vélez, Cristian; Araujo, Isis; Ginès, Àngels; Fernández-Esparrach, Gloria

    2016-02-01

    Premalignant gastric lesions have an increased risk to develop gastric cancer. To evaluate the usefulness of systematic endoscopy that includes chromoendoscopy with a double dye staining technique for the detection of dysplasia in patients with premalignant gastric lesions. This longitudinal, prospective study was performed in patients with gastric atrophy, intestinal metaplasia or dysplasia who were referred for endoscopy less than 6 months after the initial diagnosis. The second endoscopy was performed in three phases: phase 1, exhaustive and systematic review of the mucosa with photographic documentation and biopsies of suspicious areas; phase 2, chromoendoscopy with a double dye staining technique using acetic acid 1.2% and indigo carmine 0.5%; phase 3, topographic mapping and random biopsies. A total of 50 patients were included. Nine (18%) had atrophic gastritis, 38 (76%) had intestinal metaplasia, and 3 (6%) had low-grade dysplasia. Systematic endoscopy with chromoendoscopy using a double dye staining technique detected more patients with dysplasia (9 versus 3, p<.05), and a larger number of biopsies with the diagnosis of dysplasia were obtained. This occurred for visible (6 vs. 0, p<.05) and non-visible lesions (6 vs. 3, p=NS). In one patient, initial low-grade dysplasia was not detected again in the systematic endoscopy, giving a global endoscopic performance for the detection of lesions of 92%. Patients with premalignant gastric lesions have synchronous lesions with greater histological severity, which are detected when systematic endoscopy is conducted with indigo carmine dye added to acetic acid. Copyright © 2015 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.

  6. 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

  7. 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.

  8. Mutant TP53 in Duodenal Samples of Pancreatic Juice from Patients with Pancreatic Cancer or High-Grade Dysplasia

    PubMed Central

    Kanda, Mitsuro; Sadakari, Yoshihiko; Borges, Michael; Topazian, Mark; Farrell, James; Syngal, Sapna; Lee, Jeffrey; Kamel, Ihab; Lennon, Anne Marie; Knight, Spencer; Fujiwara, Sho; Hruban, Ralph H.; Canto, Marcia Irene; Goggins, Michael

    2012-01-01

    Background & Aims Imaging tests can identify patients with pancreatic neoplastic cysts but not microscopic dysplasia. We investigated wither mutant TP53 can be detected in duodenal samples of secretin-stimulated pancreatic juice, and whether this assay can be used to screen for high-grade dysplasia and invasive pancreatic cancer. Methods We determined the prevalence of mutant TP53 in microdissected pancreatic intraepithelial neoplasias (PanINs), intraductal papillary mucinous neoplasms (IPMNs), and invasive adenocarcinomas. TP53 mutations were quantified by digital high-resolution melt-curve analysis and sequencing of secretin-stimulated pancreatic juice samples, collected from duodena of 180 subjects enrolled in Cancer of the Pancreas Screening trials; patients were enrolled because of familial and/or inherited predisposition to pancreatic cancer, or as controls. Results TP53 mutations were identified in 9.1% of intermediate-grade IPMNs (2/22), 17.8% of PanIN-2 (8/45), 38.1% of high-grade IPMNs (8/21), 47.6% of PanIN-3(10/21), and 75% of invasive pancreatic adenocarcinomas (15/20); no TP53 mutations were found in PanIN-1 lesions or low-grade IPMNs. TP53 mutations were detected in duodenal samples of pancreatic juice from 29/43 patients with pancreatic ductal adenocarcinoma (67.4% sensitivity; 95% confidence interval, 0.52−0.80) and 4/8 patients with high-grade lesions (PanIN-3 and high-grade IPMN). No TP53 mutations were identified in samples from 58 controls or 55 screened individuals without evidence of advanced lesions. Conclusion We detected mutant TP53 in secretin-stimulated pancreatic juice samples collected from duodena of patients with high-grade dysplasia or invasive pancreatic cancer. Tests for mutant TP53 might be developed to improve the diagnosis of and screening for pancreatic cancer and high-grade dyplasia. clinicaltrials.gov (NCT00438906, NCT00714701) PMID:23200980

  9. Detection of colonic dysplasia in patients with ulcerative colitis using a targeted fluorescent peptide and confocal laser endomicroscopy: A pilot study.

    PubMed

    De Palma, Giovanni Domenico; Colavita, Irene; Zambrano, Gerardo; Giglio, Mariano Cesare; Maione, Francesco; Luglio, Gaetano; Sarnelli, Giovanni; Rispo, Antonio; Schettino, Pietro; D'Armiento, Francesco Paolo; De Palma, Fatima Domenica Elisa; D'Argenio, Valeria; Salvatore, Francesco

    2017-01-01

    Targeted molecular probes have been used to detect sporadic colonic dysplasia during confocal laser endomicroscopy (CLE) with promising results. This is a feasibility pilot study aiming to assess the potential role of CLE combined with a fluorescent-labeled peptide to stain and detect dysplasia associated with Ulcerative Colitis. A phage-derived heptapeptide with predicted high binding affinity for dysplastic tissue, was synthesized and labeled with fluorescein. Eleven lesions with suspected dysplasia at endoscopy were excised from nine patients with long-standing ulcerative colitis. Specimens were sprayed with the peptide and examined by CLE. The CLE images were then compared to the corresponding histological sections. At definitive histology, 4 lesions were diagnosed as inflammatory polyps, 6 as dysplastic lesions and one as invasive cancer. In inflammatory polyps, the fluorescence signal came from peri-cryptal spaces and crypt lumen due to passive accumulation of the peptide in these areas. Dysplasia was associated with active binding of the peptide to dysplastic colonocytes. Ex vivo staining of ulcerative colitis-associated dysplasia using a fluorescent labeled molecular probe and CLE is feasible. In vivo studies on larger populations are required to evaluate the safety and the effective contribution of molecular probes in cancer surveillance of ulcerative colitis.

  10. Proton pump inhibitor use may not prevent high-grade dysplasia and oesophageal adenocarcinoma in Barrett's oesophagus: a nationwide study of 9883 patients.

    PubMed

    Hvid-Jensen, F; Pedersen, L; Funch-Jensen, P; Drewes, A M

    2014-05-01

    Proton pump inhibitors (PPI) may potentially modify and decrease the risk for development of oesophageal adenocarcinoma in Barrett's oesophagus (BO). To investigate if the intensity and adherence of PPI use among all patients with BO in Denmark affected the risk of oesophageal adenocarcinoma. We performed a nationwide case-control study in Denmark among 9883 patients with a new diagnosis of BO. All incident oesophageal adenocarcinomas and high-grade dysplasias were identified, and risk ratios were estimated on the basis of prior use of PPIs. Sex- and age-matched BO patients without dysplasia or malignancies in a 10:1 ratio were used for comparison. Conditional logistic regression was used for analysis, adjusting for low-grade dysplasia, gender and medication. We identified 140 cases with incident oesophageal adenocarcinomas and/or high-grade dysplasia, with a median follow-up time of 10.2 years. The relative risk of oesophageal adenocarcinoma or high-grade dysplasia was 2.2 (0.7-6.7) and 3.4 (95% CI: 1.1-10.5) in long-term low- and high-adherence PPI users respectively. No cancer-protective effects from PPI's were seen. In fact, high-adherence and long-term use of PPI were associated with a significantly increased risk of adenocarcinoma or high-grade dysplasia. This could partly be due to confounding by indication or a true negative effect from PPIs. Until the results from future studies hopefully can elucidate the association further, continuous PPI therapy should be directed at symptom control and additional modalities considered as aid or replacement. © 2014 John Wiley & Sons Ltd.

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

    PubMed

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

    2015-10-01

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

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

    USDA-ARS?s Scientific Manuscript database

    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...

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

    PubMed

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

    2007-06-01

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

  14. Ectodermal dysplasia with true anodontia

    PubMed Central

    Bala, Madhu; Pathak, Anuradha

    2011-01-01

    The hereditary condition known as ectodermal dysplasia is characterized by the absence or defect of two or more ectodermally derived structures. The most commonly observed forms of ectodermal dysplasia are the hidrotic and hypohidrotic types; discrimination is based on the absence or presence of sweat glands. A case of 8-year-old male child with hypohidrotic ectodermal dysplasia with complete anodontia of primary as well as secondary dentitions is presented. The child had a short stature, low intelligent quotient (I.Q.,), and was underweight. The patient experienced episodes of high fever, was intolerant to heat, and did not sweat. He exhibited smooth and dry skin, sparse light-colored eyebrows. Dental clinicians can be the first to diagnose ectodermal dysplasia due to the absence of teeth. PMID:22529591

  15. 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

  16. Hip arthroscopy in patients with recurrent pain following Bernese periacetabular osteotomy for acetabular dysplasia: operative findings and clinical outcomes.

    PubMed

    Cvetanovich, Gregory L; Heyworth, Benton E; Murray, Kerri; Yen, Yi-Meng; Kocher, Mininder S; Millis, Michael B

    2015-10-01

    To report the operative findings and outcomes of hip arthroscopy for recurrent pain following periacetabular osteotomy (PAO) for acetabular dysplasia. A departmental database was used to identify patients who underwent hip arthroscopy following PAO between 2000 and 2009. Demographic data, arthroscopic findings, functional outcome scores and patient satisfaction were analysed. Of 556 PAO patients, 17 hips in 16 patients (3.1%) underwent post-PAO hip arthroscopy. Mean age at PAO was 23.8 years, and mean age at arthroscopy was 27.0 years. Common hip arthroscopy findings included labral tears (13 hips, 81.3%), significant (≥grade 2) chondral changes (12 hips, 75%), cam impingement (7 hips, 43.8%) and pincer impingement (6 hips, 37.5%). At mean follow-up 2.8 years after arthroscopy, additional procedures had been performed in six hips (37.5%), including total hip arthroplasty in one hip. Post-PAO arthroscopy questionnaire revealed 85.7% of patients with improved hip pain, 57.1% improved hip stiffness and 57.1% improved hip function. There was no significant difference in functional outcome measures. Common post-PAO hip arthroscopy findings include labral tears, chondral changes and femoroacetabular impingement. Many patients reported subjective hip improvement from post-PAO arthroscopy, but hip outcome scores were unchanged and one-third of patients had further surgery.

  17. Biological apexogenesis of undeveloped tooth in a patient with spondyloepiphyseal dysplasia: a case report.

    PubMed

    Ashraf, Hengameh; Eskandarinezhad, Mahsa

    2010-01-01

    This case report describes treatment of a necrotic immature permanent mandibular first molar with pulpal necrosis in 9-year old female with spondyloepiphyseal dysplasia. The coronal half of the root canal was debrided with a file #30 to remove necrotic tissue, and irrigated with chlorhexidine 0.12%. Bleeding was evoked to form an intracanal blood clot; the wound was then dressed with calcium hydroxide medication and provisionally restored with GIC. This was repeated at intervals of 1, 3 and 6 months. After six months, radiographic evidence revealed thickening of dentinal walls and apical closure. The progressive increase in dentinal wall thickness and apical development suggests that desirable biologic responses can occur with this form of treatment for the necrotic open apex of immature permanent teeth.

  18. [Arrhythmogenic right ventricular dysplasia].

    PubMed

    Maia, I G; Sá, R; Bassan, R; Alves, P; Ribeiros, J C; Loyola, L H; Cruz Filho, F E; Valverde, A; Belém, L

    1991-08-01

    To evaluate the clinical findings and complementary investigation to support the diagnosis of arrhythmogenic right ventricular dysplasia. Six males with a mean age of 40 years old with episodes of sustained ventricular tachycardia with left bundle branch block pattern. All patients were submitted to a clinical investigation, EKG X rays and echocardiograms. In five patients an electrophysiologic study was performed. All patients were treated with anti-arrhythmic drugs. Palpitation was the most common complaint. T-wave inversion in leads V1-V3 was present in 4 patients. An epsilon wave was noted in 2 patients. The chest X ray was abnormal in only 1 patient. All patients had an abnormal echocardiogram, with consisted in the dilatation of the outflow tract of the RV and hypocontractility. In 2 patients aneurysm of the basal RV free wall below tricuspid valve were detected. Ventricular post-excitation waves were present in 4 patients. After a mean follow-up of 37 months, 5 patients were asymptomatic with anti-arrhythmic drugs and one in therapeutic adjustment. In patients with ventricular tachycardia with left bundle branch block pattern, the diagnosis of arrhythmogenic right ventricular dysplasia was substantiated by echocardiographic data and electrocardiographic findings such a T-wave inversion during sinus rhythm and ventricular post-excitation waves. The results obtained with anti-arrhythmic drugs in our study group, suggest that drug therapy should be the first and best approach to treat patients with this type of pathology.

  19. Mid-term results of Bernese periacetabular osteotomy for developmental dysplasia of hip in middle aged patients.

    PubMed

    Zhu, Junfeng; Chen, Xiaodong; Cui, Yiming; Shen, Chao; Cai, Guiquan

    2013-04-01

    To address the question, compared to having hip replacement with latent revision, does Bernese periacetabular osteotomy (PAO) before primary hip replacement occupy a preferable treatment strategy for middle aged (aged 35-54 years) hip dysplasia patients? We assessed the mid-term functional outcome and survivorship of PAO in those patients. Forty-one hips in 36 patients at middle age at the time of surgery (mean age, 39.5 years; range, 35-47 years) were retrospectively identified out of a total PAO cohort of 315 patients. Eleven of the 41 PAO hips also underwent osteochondroplasty at the femoral head-neck junction. Radiographic parameters of lateral centre edge angle, anterior centre edge angle and hip joint medialisation were investigated using the Harris Hip Score (HHS). The average follow-up was 5.1 years (range, two to ten years). Radiographic parameters postoperatively improved into the normal range, whereas no progression was found from preoperative Tonnis osteoarthritis score. Forty hips survived at the last follow-up, with HHS Score improved from 63.7 to 88.4. Compared to the sole PAO group, both postoperative alpha angle and range of joint motion improved in the PAO combined with osteochondroplasty group. However, no difference in HHS score was found. Good survivorship and improved joint function were identified in middle-aged Chinese patients following PAO with or without osteochondroplasty. We prudently suggest PAO as an alternative strategy for treating DDH in those patients.

  20. Dissection and Aneurysm in Patients With Fibromuscular Dysplasia: Findings From the U.S. Registry for FMD.

    PubMed

    Kadian-Dodov, Daniella; Gornik, Heather L; Gu, Xiaokui; Froehlich, James; Bacharach, J Michael; Chi, Yung-Wei; Gray, Bruce H; Jaff, Michael R; Kim, Esther S H; Mace, Pamela; Sharma, Aditya; Kline-Rogers, Eva; White, Christopher; Olin, Jeffrey W

    2016-07-12

    Fibromuscular dysplasia (FMD) is a noninflammatory arterial disease that predominantly affects women. The arterial manifestations may include beading, stenosis, aneurysm, dissection, or tortuosity. This study compared the frequency, location, and outcomes of FMD patients with aneurysm and/or dissection to those of patients without. The U.S. Registry for FMD involves 12 clinical centers. This analysis included clinical history, diagnostic, and therapeutic procedure results for 921 FMD patients enrolled in the registry as of October 17, 2014. Aneurysm occurred in 200 patients (21.7%) and dissection in 237 patients (25.7%); in total, 384 patients (41.7%) had an aneurysm and/or a dissection by the time of FMD diagnosis. The extracranial carotid, renal, and intracranial arteries were the most common sites of aneurysm; dissection most often occurred in the extracranial carotid, vertebral, renal, and coronary arteries. FMD patients with dissection were younger at presentation (48.4 vs. 53.5 years of age, respectively; p < 0.0001) and experienced more neurological symptoms and other end-organ ischemic events than those without dissection. One-third of aneurysm patients (63 of 200) underwent therapeutic intervention for aneurysm repair. Patients with FMD have a high prevalence of aneurysm and/or dissection prior to or at the time of FMD diagnosis. Patients with dissection were more likely to experience ischemic events, and a significant number of patients with dissection or aneurysm underwent therapeutic procedures for these vascular events. Because of the high prevalence and associated morbidity in patients with FMD who have an aneurysm and/or dissection, it is recommended that every patient with FMD undergo one-time cross-sectional imaging from head to pelvis with computed tomographic angiography or magnetic resonance angiography. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  1. [Fibrous dysplasia].

    PubMed

    Rödl, R; Götze, C

    2008-01-01

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

  2. ‘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

  3. 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.

  4. A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

    PubMed

    Nanba, Kazutaka; Usui, Takeshi; Nakamura, Michikazu; Toyota, Yuko; Hirota, Keisho; Tamanaha, Tamiko; Kawashima, Sachiko-Tsukamoto; Nakao, Kanako; Yuno, Akiko; Tagami, Tetsuya; Naruse, Mitsuhide; Shimatsu, Akira

    2013-01-01

    Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification. A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed. Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome. We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.

  5. [Craniofacial fibrous dysplasia].

    PubMed

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

    2016-12-01

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

  6. [Hip dysplasia in adolescence].

    PubMed

    Barthès, X; Seringe, R

    1995-01-01

    Hip growth continues on till adolescence with the fusion of the different ossification centers. Does this growth exist in hip dysplasia? What is the role of surgery at adolescence? Is an additional varus osteotomy indicated with a pelvic osteotomy? Clinical and radiological criteria of adolescent hip dysplasia were studied in a series of 18 patients (mean age 12 years). The 28 hips were divided into 4 groups depending on the treatment: non operated hips (group 1, N = 8), hips operated on only by pelvic osteotomy (group 2, N = 8), hips operated on by combined pelvic and femoral osteotomies (group 3, N = 9), and hips operated on only by femoral osteotomy (group 4, N = 3). Tonnis's clinical criteria were used. The acetabular index of the weight bearing zone, the center-edge angle of Wiberg, the acetabular angle of Idelberger and Frank, the neck-shaft angle, the head coverage index were measured and compared between the 4 groups (average follow-up was 46 months). We noted continuation of growth of the acetabulum at adolescence with a correction of moderate hip dysplasia when the head was covered (group 1), the acetabular index of the weight-bearing zone decreased from 20.1 degrees to 11.1 degrees; the center-edge angle of Wiberg increased from 15.25 degrees to 23 degrees. The comparison of groups 2 and 3 showed that an additional femoral osteotomy does not change significantly the radiologic results. Does surgery benefit at adolescence from the growth which exists during this period? The clinical results and the evolution of arthrosis following a Chiari pelvic osteotomy are better when the operation is performed early. A pelvic osteotomy is indicated in symptomatic hips, when the congruity is abnormal, with deficient head coverage, as well as moderate dysplasia when the evolution of the acetabular parameters are not satisfactory. A femoral osteotomy in addition to a pelvic osteotomy does not seem justified.

  7. Focal congenital hyperinsulinism in a patient with septo-optic dysplasia.

    PubMed

    Padidela, Raja; Kapoor, Ritika R; Moyo, Yuva; Gilbert, Clare; Flanagan, Sarah E; Ellard, Sian; Hussain, Khalid

    2010-11-01

    An infant diagnosed as having hypopituitarism and on adequate hydrocortisone replacement therapy was referred to a tertiary endocrine unit at 5 weeks of age with persistent hypoglycemia that required a high rate of intravenous glucose infusion (up to 18 mg/kg•min⁻¹) to maintain euglycemia. A controlled hypoglycemia screen was performed to measure levels of plasma glucose, insulin, C-peptide and 3-β-hydroxybutyrate concentrations. The pancreas was analyzed by fluorine-18-L-3,4-dihydroxyphenylalanine ((18)F-DOPA) PET scan. Genetic analyses were performed on the peripheral blood leukocytes, and loss of heterozygosity within the resected focal lesion of the pancreas was investigated by microsatellite analysis. A glucagon stimulation test helped determine pituitary function, and an MRI of the brain and pituitary gland was performed to define the anatomy of the intracranial structures and the pituitary gland. Focal form of congenital hyperinsulinism localized to the head of the pancreas, septo-optic dysplasia and pituitary hormone deficiencies. Resection of the focal lesion from the head of the pancreas and hormonal replacement therapy for hypopituitarism.

  8. The John Charnley Award: Redefining the Natural History of Osteoarthritis in Patients With Hip Dysplasia and Impingement.

    PubMed

    Wyles, Cody C; Heidenreich, Mark J; Jeng, Jack; Larson, Dirk R; Trousdale, Robert T; Sierra, Rafael J

    2017-02-01

    Structural hip deformities including developmental dysplasia of the hip (DDH) and femoroacetabular impingement (FAI) are thought to predispose patients to degenerative joint changes. However, the natural history of these malformations is not clearly delineated. (1) Among patients undergoing unilateral THA who have a contralateral hip without any radiographic evidence of hip disease, what is the natural history and progression of osteoarthritis in the native hip based on morphological characteristics? (2) Among patients undergoing unilateral THA who have a contralateral hip without any radiographic evidence of hip disease, what are the radiographic parameters that predict differential rates of degenerative change? We identified every patient 55 years of age or younger at our institution who received unilateral primary THA from 1980 to 1989 (n = 722 patients). Preoperative radiographs were reviewed on the contralateral hip and only hips with Tönnis Grade 0 degenerative change that had minimum 10-year radiographic followup were included. A total of 172 patients met all eligibility criteria with the following structural diagnoses: 48 DDH, 74 FAI, and 40 normal morphology, and an additional 6% (10 of the 172 patients) met all eligibility criteria but were lost to followup before the 10-year minimum. Mean age at the time of study inclusion was 47 years (range, 18-55 years), and 56% (91 of 162) of the patients in this study were female. Mean followup was 20 years (range, 10-35 years). Radiographic metrics, in conjunction with the review of two experienced arthroplasty surgeons, determined the structural hip diagnosis as DDH, FAI, or normal morphology. Every available followup AP radiograph was reviewed to determine progression from Tönnis Grade 0 to 3 until the time of last followup or operative intervention with THA. Survivorship was analyzed by Kaplan-Meier methodology, hazard ratios, and multistate modeling. Thirty-five patients eventually underwent THA: 16 (33%) DDH

  9. 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

  10. Congenital hip dysplasia treated by total hip arthroplasty using cementless tapered stem in patients younger than 50 years old: results after 12-years follow-up.

    PubMed

    Faldini, Cesare; Miscione, Maria Teresa; Chehrassan, Mohammadreza; Acri, Francesco; Pungetti, Camilla; d'Amato, Michele; Luciani, Deianira; Giannini, Sandro

    2011-12-01

    Congenital hip dysplasia may lead to severe acetabular and femoral abnormalities that can make total hip arthroplasty a challenging procedure. We assessed a series of patients affected by developmental hip dysplasia treated with total hip arthroplasty using cementless tapered stem and here we report the outcomes at long-term follow-up. Twenty-eight patients (24 women and 4 men) aged between 44 and 50 years (mean 47 years) were observed. Clinical evaluation was rated with the Harris Hip Score. Radiographic evaluation consisted in standard anteroposterior and axial view radiographs of the hip. According to Crowe's classification, 16 hips presented dysplasia grade 1, 14 grade 2, and 4 grade 3. All patients were treated with total hip arthroplasty using a cementless tapered stem (Wagner Cone Prosthesis). Six patients were operated bilaterally, with a totally of 34 hips operated. After surgery, the patients were clinically and radiographically checked at 3, 6, and 12 months and yearly thereafter until an average follow-up of 12 years (range 10-14 years). Average Harris Hip Score was 56 ± 9 (range 45-69) preoperatively, 90 ± 9 (range 81-100) 12 months after surgery, and 91 ± 8 (range 83-100) at last follow-up. Radiographic evaluation demonstrated excellent osteointegration of the implants. Signs of bone resorption were present in 6 hips, nevertheless no evidence of loosening was observed and none of the implants has been revised. Even in dysplasic femur, the tapered stem allowed adequate stability and orientation of the implant. We consider tapered stem a suitable option for total hip arthroplasty in developmental hip dysplasia, also in case of young patients, thanks to the favourable long-term results.

  11. Satisfying Results of Primary Hip Arthroplasty in Patients With Hip Dysplasia at a Mean Followup of 20 Years.

    PubMed

    Colo, Ena; Rijnen, Wim H C; Gardeniers, Jean W M; van Kampen, Albert; Schreurs, B Willem

    2016-11-01

    Developmental dysplasia of the hip (DDH) is a common cause of secondary osteoarthritis (OA) in younger patients, and when end-stage OA develops, a THA can provide a solution. Different options have been developed to reconstruct these defects, one of which is impaction bone grafting combined with a cemented cup. To determine the true value of a specific technique, it is important to evaluate patients at a long-term followup. As there are no long-term studies, to our knowledge, on THA in patients with DDH using impaction bone grafting with a cemented cup, we present the results of this technique at a mean of 15 years in patients with previous DDH. We wished to determine (1) the long-term probability of cup revision at a minimum followup of 15 years for cemented acetabular impaction bone grafting in patients with DDH; (2) the radiographic appearance of the bone graft and radiographic signs of implant loosening; and (3) the complications and pre- and postoperative Harris hip scores with cemented THA combined with impaction bone grafting in patients with previous DDH. Between January 1984 and December 1995 we performed 28 acetabular impaction bone grafting procedures for secondary OA believed to be caused by DDH in 22 patients; four patients died before 15 years, leaving 24 hips in 18 patients for retrospective analysis at a minimum of 15 years (mean, 20 years; range, 16-29 years). The diagnosis of DDH was made according to preoperative radiographs and intraoperative findings. All grades of dysplasia were included; five patients had Crowe Group I, eight had Group II, nine had Group III, and two had Group IV DDH. No patients were lost to followup. In all cases the acetabular defects were combined cavitary and segmental. Owing to the high number of deaths, we performed a competing-risk analysis to determine the probability of cup revision surgery. The competing-risk analysis showed cumulative incidences at 15 and 20 years, with endpoint revision for any reason of 7% (95

  12. Do Patients With Borderline Dysplasia Have Inferior Outcomes After Hip Arthroscopic Surgery for Femoroacetabular Impingement Compared With Patients With Normal Acetabular Coverage?

    PubMed

    Cvetanovich, Gregory L; Levy, David M; Weber, Alexander E; Kuhns, Benjamin D; Mather, Richard C; Salata, Michael J; Nho, Shane J

    2017-07-01

    The literature contains conflicting reports regarding whether outcomes of hip arthroscopic surgery for patients with borderline dysplasia are inferior to outcomes in patients with normal acetabular coverage. To assess differences in the outcomes of hip arthroscopic surgery for femoroacetabular impingement (FAI) in groups of patients with borderline dysplasia and normal coverage. Cohort study; Level of evidence, 3. A registry of consecutive patients who had undergone primary hip arthroscopic surgery with capsular plication for FAI between January 2012 and January 2014 were divided based on the preoperative lateral center-edge angle (LCEA) into 2 distinct groups: (1) borderline dysplasia (LCEA 18°-25°) and (2) normal acetabular coverage (LCEA 25.1°-40°). There were 36 patients in the borderline dysplastic group and 312 patients in the normal coverage group. The primary outcome measure was the Hip Outcome Score-Activities of Daily Living (HOS-ADL) at a minimum of 2 years postoperatively. Secondary outcome measures included the HOS-Sports and modified Harris Hip Score (mHHS). The mean preoperative LCEA differed significantly between groups (23.4° ± 1.5° for borderline dysplastic, 32.5° ± 3.8° for normal coverage; P < .001). The borderline dysplastic group had a higher percentage of female patients than the normal coverage group (27/36 [75%] vs 177/312 [57%], respectively; P = .048). There were no differences in other preoperative demographics and radiographic parameters. At a minimum 2 years after hip arthroscopic surgery (mean follow-up, 2.6 ± 0.6 years), both groups demonstrated significant improvements in all patient-reported outcome scores ( P < .001 in all cases). There were no significant differences between the borderline dysplastic and normal coverage groups in final outcome scores, score improvements, or percentage of patients experiencing clinically significant improvements. One patient in the borderline dysplastic group (3%) underwent revision hip

  13. Chondroectodermal Dysplasia: A Rare Syndrome

    PubMed Central

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

    2014-01-01

    Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities. PMID:25628672

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

    PubMed

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

    2013-06-01

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

  15. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

    PubMed

    Wohlfart, Sigrun; Hammersen, Johanna; Schneider, Holm

    2016-10-01

    Hypohidrotic ectodermal dysplasia (HED), a rare and heterogeneous hereditary disorder, is characterized by deficient development of multiple ectodermal structures including hair, sweat glands and teeth. If caused by mutations in the genes EDA, EDA1R or EDARADD, phenotypes are often very similar as the result of a common signaling pathway. Single-nucleotide polymorphisms (SNPs) affecting any gene product in this pathway may cause inter- and intrafamilial variability. In a cohort of 124 HED patients, genotyping was attempted by Sanger sequencing of EDA, EDA1R, EDARADD, TRAF6 and EDA2R and by multiplex ligation-dependent probe amplification (MLPA). Pathogenic mutations were detected in 101 subjects with HED, affecting EDA, EDA1R and EDARADD in 88%, 9% and 3% of the cases, respectively, and including 23 novel mutations. MLPA revealed exon copy-number variations in five unrelated HED families (two deletions and three duplications). In four of them, the genomic breakpoints could be localized. The EDA1R variant rs3827760 (p.Val370Ala), known to lessen HED-related symptoms, was found only in a single individual of Asian origin, but in none of the 123 European patients. Another SNP, rs1385699 (p.Arg57Lys) in EDA2R, however, appeared to have some impact on the hair phenotype of European subjects with EDA mutations.

  16. A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients

    PubMed Central

    SÁNCHEZ-MEJÍAS, AVENCIA; FERNÁNDEZ, RAQUEL M.; ANTIÑOLO, GUILLERMO; BORREGO, SALUD

    2010-01-01

    Intestinal neuronal dysplasia type B (INDB) is characterized by the malformation of the parasympathetic submucous plexus of the gut. It is generally accepted that INDB has a genetic basis, and several genes produce an INDB-like phenotype in mice when disrupted, such as EDNRB. However, no mutations associated with this disease have been identified in several series analysed. In the present studu, we sought to determine whether the EDNRB/EDN3 signalling pathway plays a role in the pathogenesis of INDB in humans. Denaturing high performance liquid chromatography (dHPLC) techniques were employed to screen the EDNRB and EDN3 coding regions in 23 INDB patients. In addition, association studies were performed on these genes with single nucleotide polymorphisms strategically selected and genotyped by TaqMan technology. Although several novel variants were detected in both genes, none of these variants appeared to play a functional role in protein function or expression. Our results indicate that additional screening of other candidate genes in larger patient series is required to elucidate the molecular basis of INDB. Additionally, the systematic lack of positive results in the screening of candidate genes for INDB reported in the literature, together with our results, leads us to propose that INDB may alternatively arise as a consequence of gain of function mutations in genes related to enteric nervous system development. Therefore, the use of different molecular approaches, such as screening for genetic duplication or enhancer mutations, is recommended for future studies on the genetic basis of INDB. PMID:22993632

  17. 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

  18. White matter abnormalities in patients with focal cortical dysplasia revealed by diffusion tensor imaging analysis in a voxelwise approach.

    PubMed

    Fonseca, Viviane de Carvalho; Yasuda, Clarissa Lin; Tedeschi, Guilherme Garlipp; Betting, Luiz Eduardo; Cendes, Fernando

    2012-01-01

    Diffusion tensor imaging (DTI) allows the analysis of changes in microstructure, through the quantification of the spread and direction of water molecules in tissues. We used fractional anisotropy (FA) maps to compare the integrity of WM between patients and controls. The objective of the present study was to investigate WM abnormalities in patients with frontal lobe epilepsy secondary to focal cortical dysplasia (FCD). We included 31 controls (12 women, 33.1 ± 9.6 years, mean ± SD) and 22 patients (11 women, 30.4 ± 10.0 years), recruited from our outpatient clinic. They had clinical and EEG diagnosis of frontal lobe epilepsy, secondary to FCD detected on MRI. Patients and controls underwent 3T MRI, including the DTI sequence, obtained in 32 directions and b value of 1000 s/mm(2). To process the DTI we used the following softwares: MRIcroN and FSL/TBSS (tract-based spatial statistics). We used a threshold-free cluster enhancement with significance at p < 0.05, fully corrected for multiple comparisons across space. Areas with FA reduction in patients were identified in both hemispheres, mainly in the frontal lobes, cingulum, and forceps minor (p = 0.014), caudate e anterior thalamic radiation (p = 0.034), superior longitudinal fasciculus (p = 0.044), uncinate fasciculus, and inferior fronto-occipital fasciculus (p = 0.042). Our results showed a widespread pattern of WM microstructural abnormalities extending beyond the main lesion seen on MRI (frontal lobe), which may be related to frequent seizures or to the extent of MRI-invisible portion of FCD.

  19. Clinical characteristics and epilepsy outcomes following surgery caused by focal cortical dysplasia (type IIa) in 110 adult epileptic patients.

    PubMed

    Sun, Yuqiang; Wang, Xiaofeng; Che, Ningwei; Qin, Huamin; Liu, Shuping; Wu, Xinling; Wei, Minghai; Cheng, Huakun; Yin, Jian

    2017-05-01

    The aim of the present study was to investigate the effects of surgical intervention of focal cortical dysplasia (FCD) IIa on the outcome of epilepsy, and to evaluate the prognostic factors of seizure freedom. Patient data from epilepsy surgeries were retrospectively reviewed at the Second Affiliated Hospital of Dalian Medical University between 2007 and 2015. A total of 110 patients with a definite pathological diagnosis of FCD IIa were included. Moreover, the clinical characteristics, seizure outcome and quality of life in adults with FCD IIa were evaluated. The Engel seizure outcome achievements were class I in 72, class II in 20, class III in 11 and class IV in 7 patients. In addition, the Engel seizure outcome was relevant with the resection range of the lesions (P=0.028). The assessments of electrocorticography (ECoG) patterns and magnetic resonance imaging (MRI) are relevant to determining the extent of the resection, which may influence the surgery outcome (P=0.001 and P=0.023). Using multivariate regression analyses, the extent of resection, seizure frequency, preoperative ECoG and location of resection were the most important risk factors for seizure recurrence. The results of quality of life in epilepsy-10 scoring revealed that the quality of life improved significantly following surgery (P<0.01). Moreover, surgical intervention, EcoG, MRI positioning and complete resection helped to have improved seizure control, relief of anxiety and quality of life. All these observations strongly recommend an early consideration of epilepsy surgery in FCD IIa patients.

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

    PubMed Central

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

    2017-01-01

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

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

    PubMed

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

    2004-03-15

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

  2. 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.

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

    PubMed

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

    2013-06-01

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

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

    PubMed

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

    2015-01-01

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

  5. Pseudoachondroplastic Dysplasia

    PubMed Central

    Stevens, Jeff W

    1999-01-01

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

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

    PubMed Central

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

    2003-01-01

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

  7. Epithelial Dysplasia and Cancer in IBD Strictures.

    PubMed

    Sonnenberg, Amnon; Genta, Robert M

    2015-09-01

    Colonic strictures and epithelial dysplasia are both known risk factors for the occurrence of colorectal cancer in inflammatory bowel disease (IBD) patients. The aim of the present work was to study colonic stricture as a risk factor for the occurrence of epithelial dysplasia and colonic adenocarcinoma. In a case-control study among 53568 IBD patients undergoing colonoscopy, we compared the prevalence of strictures among cases with dysplasia or adenocarcinoma and controls without such complications by calculating odds ratios (ORs) and their 95% confidence intervals (CIs). Multivariate logistic regressions were used to assess the joint influence of multiple predictor variables (age, sex, IBD type and stricture) on the occurrence of colonic dysplasia or adenocarcinoma. The prevalence of strictures was 1.06% in ulcerative colitis (UC) and 8.71% in Crohn's disease (CD, OR 11.09, 95% CI 9.72-12.70). The prevalence of dysplasia was 3.22% in UC and 2.08% in CD (OR 0.75, 95% CI 0.65-0.86). The prevalence of dysplasia was similar in IBD patients with and without stricture: 2.82 and 2.41%, respectively. The prevalence of cancer was higher in IBD patients with than without stricture: 0.78 and 0.11%, respectively (OR 6.87, 95% CI 3.30-12.89). In the multivariate analysis, old age, male sex and UC, but not stricture, were all significantly and independently associated with dysplasia. Old age, dysplasia and stricture were significantly and independently associated with cancer. The prevalence of epithelial dysplasia is not generally increased in IBD patients with strictures. Published by Oxford University Press on behalf of European Crohn’s and Colitis Organisation (ECCO) 2015. This work is written by US Government employee and is in the public domain in the US.

  8. Comparison of mechanoreceptor quantities in hip joints of developmental dysplasia of the hip patients with normal hips.

    PubMed

    Desteli, Engin Eren; Gülman, Ali Birol; Imren, Yunus; Kaymaz, Figen

    2014-01-01

    Joint mechanoreceptors are afferent neural elements involved in pain sensation and tactile sense. We aimed to detect the free nerve endings (FNE) and other types of mechanoreceptors and to compare their quantities in human hip joint capsule (HJC) and ligamentum capitis femoris (LCF) of babies with developmantal dysplasia of hip (DDH) and intrauterine ex foetuses (control group) to find out whether there is an increase in the amount of mechanoreceptors in hip joint due to the occured anatomical chages. We took 15 LCF and HJC biopsies from 15 patients undergoing hip surgery for DDH, and 15 HJC and LCFs from intrauterine ex fetuses. Total of 60 specimens were investigated. The mean age of the babies was 10.3 months (6-18 months) at the time of surgery. Full thickness 1 × 1 cm HJC and LCF portions were taken as biopsy specimens. An immunohistochemical technique was performed for neurogenic protein S-100 and examined under light microscopy. FNEs were detected in all four different tissues (type IVa). Other types of mechanoreceptors (Type I-II and III) were not detected in any of the specimens. The positive rates of FNE staining in the control group were % 2.60 ± 1.24 for the LCF and % 2.67 ± 1.11 for the HJC respectively and FNE staining in the DDH group were found to be % 2.67 ± 1.11 for the LCF and % 2.73 ± 1.16 for the HJC. We did not find a statistically significant difference in number of FNEs between the specimens of the DDH group and the control group (p>0.05), also there was no statistically significant difference in number of FNEs between the HJC and LCF within each group (p>0.05). Our results suggest that the number of FNEs does not increase in HJC and LCF of DDH patients even though LCF hypertrophy and capsular elongation occurs.

  9. Treatment of hypertension in patients with renal artery stenosis due to fibromuscular dysplasia of the renal arteries

    PubMed Central

    Chrysant, George S.

    2014-01-01

    Renal artery stenosis (RAS) from fibromuscular dysplasia (FMD) is an uncommon cause of hypertension that affects mostly women. FMD is a noninflammatory vascular disease that predominantly affects mainly the renal arteries, but can also affect arteries in other vascular territories. The most common type of FMD is the media fibroplasia with the characteristic “string of beads” appearance (80-90%), whereas the two other types, the “intimal” and “adventitial” FMD are much less common accounting for 10% and <5% of cases, respectively. The prevalence of FMD in the general population is not well known. Estimates are derived from screening kidney donors, with a prevalence of about 2.6%. Among patients with renovascular hypertension (RVH), its incidence is about 10%, whereas 80-90% of RVH is due to atherosclerotic renal artery stenosis (ARAS). The treatment of choice of hypertension due to FMD is percutaneous renal angioplasty (PTRA). In contrast, hypertension due to ARAS is not frequently responsive to PTRA. In order to achieve successful control of hypertension in patients with FMD, a combination of PTRA with drugs that block the renin-angiotensin-aldosterone system (RAAS) is often necessary. The purpose of this review was to search the literature for newer diagnostic methods and treatment of FMD. Therefore, a Medline search of the English literature of published papers between 2008 and December 2013 was performed. Of 58 papers reviewed, 19 pertinent papers were selected including, studies, reviews, registries and case reports. The information from these studies together with collateral literature will be discussed in this concise review. PMID:24649423

  10. Treatment of hypertension in patients with renal artery stenosis due to fibromuscular dysplasia of the renal arteries.

    PubMed

    Chrysant, Steven G; Chrysant, George S

    2014-02-01

    Renal artery stenosis (RAS) from fibromuscular dysplasia (FMD) is an uncommon cause of hypertension that affects mostly women. FMD is a noninflammatory vascular disease that predominantly affects mainly the renal arteries, but can also affect arteries in other vascular territories. The most common type of FMD is the media fibroplasia with the characteristic "string of beads" appearance (80-90%), whereas the two other types, the "intimal" and "adventitial" FMD are much less common accounting for 10% and <5% of cases, respectively. The prevalence of FMD in the general population is not well known. Estimates are derived from screening kidney donors, with a prevalence of about 2.6%. Among patients with renovascular hypertension (RVH), its incidence is about 10%, whereas 80-90% of RVH is due to atherosclerotic renal artery stenosis (ARAS). The treatment of choice of hypertension due to FMD is percutaneous renal angioplasty (PTRA). In contrast, hypertension due to ARAS is not frequently responsive to PTRA. In order to achieve successful control of hypertension in patients with FMD, a combination of PTRA with drugs that block the renin-angiotensin-aldosterone system (RAAS) is often necessary. The purpose of this review was to search the literature for newer diagnostic methods and treatment of FMD. Therefore, a Medline search of the English literature of published papers between 2008 and December 2013 was performed. Of 58 papers reviewed, 19 pertinent papers were selected including, studies, reviews, registries and case reports. The information from these studies together with collateral literature will be discussed in this concise review.

  11. 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. ©2014 The British Editorial Society of Bone & Joint Surgery.

  12. 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.

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

    PubMed

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

    2012-08-01

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

  14. [Chlamydia trachomatis and cervix dysplasia].

    PubMed

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

    1995-09-01

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

  15. Cutting Balloon Angioplasty (CBA) for the Treatment of Renal Artery Fibromuscular Dysplasia (FMD) in Six Patients: 5-Year Long-Term Results.

    PubMed

    Cotroneo, Antonio Raffaele; Amoroso, Luigi; Giammarino, Alberto; Galasso, Daniele; Taglialatela, Francesco; Timpani, Carmine; Gabrielli, Daniela

    2017-04-01

    To evaluate long-term outcomes in terms of hypertension control, recurrent stenosis, and reinterventions from patients who underwent cutting balloon angioplasty (CBA) for symptomatic renal artery fibromuscular dysplasia (FMD). From 2011, six consecutive renal artery FMD women underwent CBA for poorly controlled hypertension, despite antihypertensive therapy. Follow-up consisted of blood pressure monitoring and duplex ultrasonography at 1, 6, and 12 months and thereafter annually for 5 years. All treatments were technically successful. Recurrence of hypertension was found in two patients within 12 months, and reinterventions were performed using CBA. Results show the efficacy of CBA for renal artery FMD.

  16. Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene.

    PubMed

    Kamezaki, Michitsugu; Kusaba, Tetsuro; Adachi, Takaomi; Yamashita, Noriyuki; Nakata, Mayumi; Ota, Noriyoshi; Shiotsu, Yayoi; Ishida, Mami; Usui, Takeshi; Tamagaki, Keiichi

    2017-01-01

    Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disease caused by GATA3 mutations. Although several cases with variable renal features have been reported, the presence of histological changes within the glomeruli in adult patients is unclear. We herein report an adult case of HDR syndrome with a novel p.C288W (TGC>TGG) missense mutation in GATA3. His renal histology showed a membranoproliferative glomerulonephritis-like glomerular lesion. Additional renal histological analyses of HDR syndrome patients will be needed to clarify the role of GATA3 in both the developing and adult kidney.

  17. Cleidocranial dysostosis

    MedlinePlus

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

  18. Risk factors associated with Barrett's epithelial dysplasia.

    PubMed

    Fujita, Mikiko; Nakamura, Yuri; Kasashima, Saeko; Furukawa, Maiko; Misaka, Ryoichi; Nagahara, Hikaru

    2014-04-21

    To elucidate risk factors associated with dysplasia of short-segment Barrett's esophagus (BE). A total of 151 BE patients who underwent endoscopic examination from 2004 to 2008 in Aoyama Hospital, Tokyo Women's Medical University, Japan and whose diagnosis was confirmed from biopsy specimens were enrolled in the study. BE was diagnosed based on endoscopic findings of gastric-appearing mucosa or apparent columnar-lined esophagus proximal to the esophagogastric junction. Dysplasia was classified into three grades - mild, moderate and severe - according to the guidelines of the Vienna Classification System for gastrointestinal epithelial neoplasia. Anthropometric and biochemical data were analyzed to identify risk factors for BE dysplasia. The prevalence of Helicobacter pylori (H. pylori) infection and the expression of p53 by immunohistological staining were also investigated. Histological examination classified patients into three types: specialized columnar epithelium (SCE) (n = 65); junctional (n = 38); and gastric fundic (n = 48). The incidence of dysplasia or adenocarcinoma from BE of the SCE type was significantly higher than that of the other two types (P < 0.01). The univariate analysis revealed that sex, H. pylori infection, body weight, p53 overexpression, and low diastolic blood pressure (BP) were associated with BE dysplasia. In contrast, body mass index, waist circumference, metabolic syndrome complications, and variables related to glucose or lipid metabolism were not associated with dysplasia. Multivariate logistic analysis showed that overexpression of p53 [odds ratio (OR) = 13.1, P = 0.004], H. pylori infection (OR = 0.19, P = 0.066), and diastolic BP (OR = 0.87, P = 0.021) were independent risk factors for epithelial dysplasia in BE patients with the SCE type. Overexpression of p53 is a risk factor for dysplasia of BE, however, H. pylori infection and diastolic BP inversely associated with BE dysplasia might be protective.

  19. The "pirate sign" in fibrous dysplasia.

    PubMed

    Singnurkar, Amit; Rush, Chris

    2006-11-01

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

  20. 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

  1. [Spondyloepiphyseal and metaphyseal dysplasia].

    PubMed

    Wirth, T

    2008-01-01

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

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

    PubMed

    Groza, Tudor; Hunter, Jane; Zankl, Andreas

    2012-03-26

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

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

    PubMed

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

    2006-06-01

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

  4. 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

  5. Foveal dysplasia evident by optical coherence tomography in patients with a history of retinopathy of prematurity.

    PubMed

    Recchia, Franco M; Recchia, Cynthia C

    2007-01-01

    To describe the optical coherence tomography (OCT) findings for patients with a history of retinopathy of prematurity (ROP). Clinical records, fundus photographs, and OCT findings for consecutive patients aged 8 years and older who had a history of ROP were reviewed. The main outcome measures were best-corrected visual acuity, central foveal thickness (CFT), macular anatomy, and foveal contour by OCT. Twenty eyes of 12 patients (median age, 15 years) were studied. Median gestational age at birth was 25 weeks. Six eyes had received peripheral retinal ablation for threshold ROP. Median best-corrected visual acuity was 20/40 (range, 20/20 to counting fingers). CFT was >220 microm in 70% of eyes and >240 microm in 35% of eyes. In all eyes, foveal contour was abnormal, with foveal depression either absent (n = 7 [35%]) or shallow (n = 13 [65%]). Preservation of multiple inner retinal layers within the fovea was seen in 14 eyes (70%). Vitreomacular traction or subretinal fluid was not seen in any eye. Anomalies in foveal anatomy by OCT may be a vestige of prematurity, appear to be independent of prior retinopexy, and can still be associated with excellent visual acuity.

  6. Genetics Home Reference: Czech dysplasia

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Czech dysplasia Czech dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Czech dysplasia is an inherited condition that affects joint ...

  7. 18F-FDG PET/CT of Secondary Epithelioid Angiosarcoma of the Proximal Femur in a Patient With Polyostotic Fibrous Dysplasia.

    PubMed

    Hakozaki, Michiyuki; Yamada, Hitoshi; Hasegawa, Osamu; Watanabe, Kazuo; Konno, Shinichi

    2017-10-01

    Fibrous dysplasia rarely transforms into a secondary malignancy. We present the PET/CT findings at pretreatment and posttreatment in an exceedingly rare case of epithelioid angiosarcoma of the bone secondary to polyostotic fibrous dysplasia.

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

    PubMed

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

    2010-05-01

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

  9. Fibrous Dysplasia

    MedlinePlus

    ... as patches of pigmented skin (light brown or “café-au-lait” spots) and endocrine problems such as ... Bone Disease Patient Network Website: http://usbjd.org/projects/RBDPN_op.cfm The National Institutes of Health ...

  10. Morphological characteristics of the bony birth canal in patients with developmental dysplasia of the hip (DDH): investigation by three-dimensional CT.

    PubMed

    Kojima, S; Kobayashi, S; Saito, N; Nawata, M; Horiuchi, H; Takaoka, K

    2001-01-01

    We investigated the three-dimensional morphological characteristics of the pelvis in adult female patients with developmental dysplasia of the hip (DDH), using computerized tomography (CT) images. Forty-two subjects with normal hips and 40 DDH patients were recruited for the study. In the DDH group, the average transverse diameter of the pelvic inlet was significantly less and the average transverse diameter of the pelvic outlet was significantly greater than the measurements in the normal group. Further, the bony birth canal in DDH patients exhibited a higher incidence of anthropoid-type geometry, as defined by a longer sagittal diameter relative to the transverse diameter of the pelvic inlet. These findings indicate a characteristic pelvic geometry and suggest different development of the pelvis in the transverse direction in DDH patients. In addition, the obstetric conjugate length/transverse diameter of the pelvic inlet ratio was correlated to the degree of severity of acetabular dysplasia. This finding suggests that DDH is a manifestation of a developmental characteristic of the pelvis.

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

    PubMed Central

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

    2017-01-01

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

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

    PubMed

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

    2014-03-01

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

  13. 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.

  14. Skeletal Dysplasias: Growing Therapy for Growing Bones

    PubMed Central

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

    2017-01-01

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

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

    PubMed

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

    2012-07-01

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

  16. Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET.

    PubMed

    Shalom-Feuerstein, Ruby; Serror, Laura; Aberdam, Edith; Müller, Franz-Josef; van Bokhoven, Hans; Wiman, Klas G; Zhou, Huiqing; Aberdam, Daniel; Petit, Isabelle

    2013-02-05

    Ectodermal dysplasia is a group of congenital syndromes affecting a variety of ectodermal derivatives. Among them, ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome is caused by single point mutations in the p63 gene, which controls epidermal development and homeostasis. Phenotypic defects of the EEC syndrome include skin defects and limbal stem-cell deficiency. In this study, we designed a unique cellular model that recapitulated major embryonic defects related to EEC. Fibroblasts from healthy donors and EEC patients carrying two different point mutations in the DNA binding domain of p63 were reprogrammed into induced pluripotent stem cell (iPSC) lines. EEC-iPSC from both patients showed early ectodermal commitment into K18(+) cells but failed to further differentiate into K14(+) cells (epidermis/limbus) or K3/K12(+) cells (corneal epithelium). APR-246 (PRIMA-1(MET)), a small compound that restores functionality of mutant p53 in human tumor cells, could revert corneal epithelial lineage commitment and reinstate a normal p63-related signaling pathway. This study illustrates the relevance of iPSC for p63 related disorders and paves the way for future therapy of EEC.

  17. 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

  18. Expression of p53 predicts risk of prevalent and incident advanced neoplasia in patients with Barrett's esophagus and epithelial changes indefinite for dysplasia.

    PubMed

    Horvath, Bela; Singh, Prabhdeep; Xie, Hao; Thota, Prashanthi N; Sun, Xingwen; Liu, Xiuli

    2016-11-01

    Patients with Barrett's esophagus (BE) are at an increased risk for developing esophageal adenocarcinoma (EAC); thus they may undergo regular endoscopic surveillance. If epithelial changes cannot be unequivocally classified as negative or positive for dysplasia, a diagnosis of indefinite for dysplasia (IND) is recommended. Several biomarkers have been proposed as markers or predictors of neoplasia in the general BE population; however, their significance is not clear in patients with BE-IND. We therefore performed a retrospective study to determine whether expression of these biomarkers was associated with the development of neoplasia in BE-IND patients. We searched our archives to identify all cases of BE-IND diagnosed between January 1992 and December 2007. Immunohistochemical analyses were used to semi-quantify the expression of p53, α-methylacyl-CoA racemase (AMACR), and cyclin D1. A univariate analysis was used to identify predictors for prevalent and incident neoplasia and advanced neoplasia. Among the 103 patients with an index diagnosis of BE-IND who were included in this study, 81 (78.6%) underwent a follow-up biopsy within 12 months of diagnosis; 10 (12.3%) had neoplasia, including four (4.9%) with advanced neoplasia. Among 79 patients without prevalent neoplasia who underwent more than 1 year of follow-up, 18 (22.8%) had developed neoplasia, including four (5.1%) with advanced neoplasia. AMACR and cyclin D1 expression levels were not correlated with prevalent or incident neoplasia; however, high p53 expression (>5%) was associated with prevalent advanced neoplasia on surveillance biopsy (P = 0.04) and with an increased risk of progression to advanced neoplasia (HR = 12; P = 0.03). In this study, p53 expression was found to be predictive of prevalent advanced neoplasia and progression to advanced neoplasia in patients with BE-IND. © The Author(s) 2015. Published by Oxford University Press and the Digestive Science Publishing Co. Limited.

  19. [Fibrous dysplasia of bone].

    PubMed

    Orcel, Philippe; Chapurlat, Roland

    2007-10-31

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

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

    PubMed Central

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

    2014-01-01

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

  1. COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

    PubMed Central

    Kennedy, Jason; Jackson, Gail; Ramsden, Simon; Taylor, Jacky; Newman, William; Wright, Michael J; Donnai, Dian; Elles, Rob; Briggs, Michael D

    2009-01-01

    The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which result in varying degrees of short stature, joint pain and stiffness and often resulting in early onset osteoarthritis. PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein (COMP) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED, we developed an efficient and accurate molecular diagnostic service for the COMP gene. In a 36-month period, 100 families were screened for a mutation in COMP and we identified disease-causing mutations in 78% of PSACH families and 36% of MED families. Furthermore, in several of these families, the identification of a disease-causing mutation provided information that was immediately used to direct reproductive decision-making. PMID:15756302

  2. Neuroimaging of focal cortical dysplasia: neuropathological correlations.

    PubMed

    Colombo, Nadia; Citterio, Alberto; Galli, Carlo; Tassi, Laura; Lo Russo, Giorgio; Scialfa, G; Spreafico, Roberto

    2003-09-01

    Focal cortical dysplasia is a well-known cause of intractable epilepsy with early onset of seizures, and is potentially amenable to surgical therapy. It was first described by Taylor in 1971 as a peculiar malformative disorganisation of the neocortex characterised at histology by loss of cortical lamination and accompanied by giant, dysmorphic neurones and, most frequently, by "balloon cells" littered throughout the cortex and sub-cortical white matter. While in the past decades the term "cortical dysplasia" has referred to various malformations of cortical development, such as agyria, pachygyria, polymicrogyria, heterotopia and hemimegalencephaly, it is now widely accepted that the entity identified by Taylor should be considered separately, from both histological and neuroimaging standpoints. More recently, the recognition of various histological subtypes of focal cortical dysplasia characterised by different degrees of cortical disruption with or without cytological abnormalities has generated several classifications that are still unsatisfactory. With better magnetic resonance capability, subtle and very small focal cortical dysplasias may now be visualised and the differential magnetic resonance aspects of the histological subgroups can be established. We will discuss the problem of histopathological classification and magnetic resonance imaging differentiation of the various subtypes of focal cortical dysplasia in the light of personal data collected from a large series of epileptic patients who underwent surgery and had a histological diagnosis of focal cortical dysplasia. Copyright John Libbey Eurotext 2003.

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

    PubMed

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

    2011-12-01

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

  4. 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.

  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. Conservative Management of Hip Dysplasia.

    PubMed

    Harper, Tisha A M

    2017-07-01

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

  7. Ghosal Type Hematodiaphyseal Dysplasia.

    PubMed

    Jeevan, Amrit; Doyard, Mathilde; Kabra, Madhulika; Daire, Valerie Cormier; Gupta, Neerja

    2016-04-01

    Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder characterized by refractory anemia and diaphyseal bone dysplasia. A 3 y 9 mo-old male child presented with progressive anemia and bowing of thighs. Child was found to have a previously reported homozygous point mutation c.1238G>A, (p.Arg413Glu) in Exon 16 of TBXAS1 gene. Low dose steroid therapy resulted in normalization of hemoglobin and prevented further progression of bony changes. Refractory anemia in association with bony deformities should prompt pediatricians to investigate for inherited bony dysplasia.

  8. Living with Bronchopulmonary Dysplasia

    MedlinePlus

    ... Living With Bronchopulmonary Dysplasia Caring for a premature infant can be challenging. You may have: Emotional pain, ... tiredness). Frustration that you can't breastfeed your infant right away. (You can pump and store your ...

  9. Cervical dysplasia - series (image)

    MedlinePlus

    Conization is a procedure in which a "cone" of tissue is removed. This procedure is performed for more advanced cervical dysplasia, which remains limited to the cervix (cervical intraepithelial neoplasia, high ...

  10. Surgical Treatment of Congenital Mitral Valve Dysplasia.

    PubMed

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

    2016-05-01

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

  11. Dysplasia can be a pain in the gut.

    PubMed

    McKenna, Barbara J; Appelman, Henry D

    2002-12-01

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

  12. 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

  13. Expansive focal cemento-osseous dysplasia.

    PubMed

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

    2012-01-01

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

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

    PubMed

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

    2009-12-01

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

  15. Does the optimal position of the acetabular fragment should be within the radiological normal range for all developmental dysplasia of the hip? A patient-specific finite element analysis.

    PubMed

    Wang, Xuyi; Peng, Jianping; Li, De; Zhang, Linlin; Wang, Hui; Jiang, Leisheng; Chen, Xiaodong

    2016-10-04

    The success of Bernese periacetabular osteotomy depends significantly on how extent the acetabular fragment can be corrected to its optimal position. This study was undertaken to investigate whether correcting the acetabular fragment into the so-called radiological "normal" range is the best choice for all developmental dysplasia of the hip with different severities of dysplasia from the biomechanical view? If not, is there any correlation between the biomechanically optimal position of the acetabular fragment and the severity of dysplasia? Four finite element models with different severities of dysplasia were developed. The virtual periacetabular osteotomy was performed with the acetabular fragment rotated anterolaterally to incremental center-edge angles; then, the contact area and pressure and von Mises stress in the cartilage were calculated at different correction angles. The optimal position of the acetabular fragment for patients 1, 2, and 3 was when the acetabular fragment rotated 17° laterally (with the lateral center-edge angle of 36° and anterior center-edge angle of 58°; both were slightly larger than the "normal" range), 25° laterally following further 5° anterior rotation (with the lateral center-edge angle of 31° and anterior center-edge angle of 51°; both were within the "normal" range), and 30° laterally following further 10° anterior rotation (with the lateral center-edge angle of 25° and anterior center-edge angle of 40°; both were less than the "normal" range), respectively. The optimal corrective position of the acetabular fragment is severity dependent rather than within the radiological "normal" range for developmental dysplasia of the hip. We prudently proposed that the optimal correction center-edge angle of mild, moderate, and severe developmental dysplasia of the hip is slightly larger than the "normal" range, within the "normal" range, and less than the lower limit of the "normal" range, respectively.

  16. Ectodermal dysplasia and abnormal thumbs.

    PubMed

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

    1980-05-01

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

  17. 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.

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

    PubMed

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

    2016-02-01

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

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

    PubMed

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

    1998-01-01

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

  20. 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

  1. A patient with a 44-year history of epilepsia partialis continua caused by a perirolandic cortical dysplasia.

    PubMed

    Nakken, Karl O; Server, Andrés; Kostov, Hrisimir; Haakonsen, Monika

    2005-02-01

    Epilepsia partialis continua (EPC), or Kojevnikov's syndrome, is a rare epileptic syndrome arising from a variety of lesions in the perirolandic area. We report herein a 46-year-old woman with drug-resistant EPC due to a cortical dysplasia in the left frontoparietal region. For 44 years she has suffered continuous right-sided jerks, particularly in the right arm and hand, with an average frequency of 10-20 jerks per minute. During EEG recordings her jerks were associated with spikes and sharp waves over the left frontocentroparietal region, sometimes also with bursts of high-voltage generalized spike-wave complexes with a maximum bicentrally, followed by an electrodecrement. Despite the continuous jerks she is independent in daily life activities, and she considers the jerks not severe enough to justify surgery, i.e., multiple subpial transections.

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

    PubMed

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

    2014-12-01

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

  3. Peripheral vestibular pathology in Mondini dysplasia.

    PubMed

    Kaya, Serdar; Hızlı, Ömer; Kaya, Fatıma Kübra; Monsanto, Rafael DaCosta; Paparella, Michael M; Cureoglu, Sebahattin

    2017-01-01

    In this study, our objective was to histopathologically analyze the peripheral vestibular system in patients with Mondini dysplasia. Comparative human temporal bone study. We assessed the sensory epithelium of the human vestibular system with a focus on the number of type I and type II hair cells, as well as the total number of hair cells. We compared those numbers in our Mondini dysplasia group versus our control group. The loss of type I and type II hair cells in the cristae of the superior, lateral, and posterior semicircular canals, as well as in the saccular and utricular macula, was significantly higher in our Mondini dysplasia group than in our control group. The total number of hair cells significantly decreased in the cristae of the superior, lateral, and posterior semicircular canals, as well as in the saccular and utricular macula, in our Mondini dysplasia group. Loss of vestibular hair cells can lead to vestibular dysfunction in patients with Mondini dysplasia. NA Laryngoscope, 127:206-209, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  4. Gastric dysplasias. A clinicopathological study of 35 cases.

    PubMed

    Chlumská, Alena; Mukenšnabl, Petr; Waloschek, Tomáš; Zámečník, Michal

    2013-01-01

    Gastric epithelial dysplasia (GED) represents a recognized precursor lesion of gastric adenocarcinoma. GED types can be classified according to its morphology and patterns of mucin expression into adenomatous (intestinal), foveolar (gastric) and hybrid (mixed) types. We examined gastroscopic specimens with GED in 35 patients (21 men and 14 women, mean age 69.6 years). Adenomatous dysplasia was present in 17 patients (49 %), and was of low grade in 14 cases and high grade in 3 cases. Foveolar type dysplasia was found in 16 patients (46 %), and almost in one half of the cases it was high grade (in 7 cases, i.e. 46 %). In one woman, low grade foveolar dysplasia was found in polypoid mucosal prolapse of the gastric antrum. Hybrid dysplasia was found in only 2 cases (0.6 %), and in both of them this dysplasia was predominantly of foveolar type. One case was of low-grade and the second case was of a high-grade type. In our series GED was found mostly in the antrum. The findings in the adjacent mucosa usually included HP negative inactive chronic gastritis with intestinal metaplasia of both complete and incomplete types. In our series, foveolar type dysplasia was more frequent in comparison with previous studies. Our findings show that high grade dysplasia is more frequent in foveolar GD than in adenomatous GD, and this is in keeping with previous published findings.

  5. Osteofibrous dysplasia and adamantinoma.

    PubMed

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

    2010-06-01

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

  6. Tobacco smoking and alcohol consumption as risk factors for site-specific intraoral epithelial dysplasia.

    PubMed

    Jaber, Mohamed Abdullah

    2010-11-01

    The aim of the present study was to evaluate the role of tobacco and alcohol as possible risk factors for oral epithelial dysplasia in the various oral subsites. Data were gathered from 630 patients with oral epithelial dysplasia in the United Arab Emirates between 1997 and 2007. Odds ratios for oral epithelial dysplasia at various oral subsites were estimated using multiple logistic regression for each level of exposure of interest. The results showed that in males, oral epithelial dysplasia of the labial mucosa and floor of the mouth were strongly associated with tobacco smoking. In females, oral epithelial dysplasia of the floor of the mouth and tongue were the sites associated with tobacco smoking. Alcohol was not a significant determinant of the sites of oral epithelial dysplasia in either sex. Tobacco smoking has a significant role in determining the oral epithelial dysplasia subsites, but alcohol consumption is not a risk factor for oral epithelial dysplasia sites. © 2010 Blackwell Publishing Asia Pty Ltd.

  7. Radiographic signs for detection of femoroacetabular impingement and hip dysplasia should be carefully used in patients with osteoarthritis of the hip.

    PubMed

    Ipach, Ingmar; Rondak, Ina-Christine; Sachsenmaier, Saskia; Buck, Elisabeth; Syha, Roland; Mittag, Falk

    2014-05-08

    During the last years, terms like acetabular retroversion, excessive overcoverage, and abnormal head-neck-junction with the so called "pistol-grip-deformity" has been added to the classical description of hip dysplasia. These anatomical changes could lead to a femoroacetabular impingement (FAI). Both kinds of FAI has been indentified as a main reason for hip pain and progressive degenerative changes leading to early osteoarthritis of the hip. A lot of radiographic criteria on pelvic views have been established to detect classical dysplasia and FAI. The present study was initiated to assess the hypothesis that age and severity of osteoarthritis affect measurements of different radiographic parameters. The pelvic radiographs of 1614 patients were measured for head-ratio, CE-angle, roof obliquity, extrusion-index, depth-to-width ratio, CCD-angle, sharp's angle. To evaluate the severity of osteoarthritis of the hip the classification by Kellgren and Lawrence was used. Associations between age and radiographic parameters or severity of osteoarthritis were assessed by Spearman's (ρ) or Kendall's (r) rank correlation coefficient, respectively. 366 (22.7%) patients presented no sign of osteoarthritis, 367 (22.7%) patients presented I° osteoarthritis, 460 (28.5%) patients presented II° osteoarthritis, 307 (19%) III° osteoarthritis and 114 (7.1%) IV° osteoarthritis of the hip. The mean head-ratio of all patients was 1.13 ± 0.26 (0.76 - 2.40), the mean CE-angle 40.05° ± 10.13° (0° - 70°), the mean roof obliquity was 35.27° ± 4.96° (10° - 55°), the mean extrusion-index was 12.99 ± 9.21 (6.20 - 95.2), the mean depth-to-width ratio was 59.30 ± 8.90 (6.30 - 100), the mean CCD-angle was 127.68° ± 7.22° (123° - 162°) and the mean sharp's angle was 9.75° ± 5.40° (1° - 34°) There was a weak association between age and the severity of osteoarthritis of the hips (left: r= 0.291; right: r=0.275; both P<0.001) with higher osteoarthritis levels observable for

  8. Surgery for drug resistant partial epilepsy in children with focal cortical dysplasia: anatomical-clinical correlations and neurophysiological data in 10 patients.

    PubMed

    Francione, S; Vigliano, P; Tassi, L; Cardinale, F; Mai, R; Lo Russo, G; Munari, C

    2003-11-01

    To analyse a population of children with focal cortical dysplasia operated on for drug resistant partial epilepsy, with emphasis on clinical features, seizure semiology, interictal and ictal EEG and stereo EEG findings, histological and topographical characteristics of the lesions, extension and localisation of cerebral excision, and its postoperative effect on seizure frequency. 10 patients were studied, aged between 26 months and 11 years (median 6 years). Magnetic resonance imaging (MRI) abnormalities were unilobar (temporal 3, frontal 2), bilobar (2), or multilobar (1); the two patients with negative MRI suffered from frontal seizures. Presurgical diagnostic steps varied in complexity and invasiveness depending on the anatomical/electrical/clinical features of each patient. In four patients they included only scalp video EEG monitoring, and in six, also invasive recordings using stereotactically implanted intracerebral electrodes. Surgery consisted of corticectomy plus lesionectomy in all cases. 70% of the patients were seizure-free after a minimum postoperative follow up of 25 months. These included three patients with temporal lesions and four of seven patients with other lobar or multilobar extratemporal localisation. One patient had improvement in seizure control. Outcome was poor in multilobar patients, but a class Ia outcome was obtained in one case after partial lesionectomy associated with bilobar corticectomy. All patients showed developmental improvement. Analysis of the data in these patients allowed the production of an "anatomical-clinical concordance" list, which appeared to be correlated with the diagnostic steps performed. Carrying out a stereo EEG exploration in the most complex cases proved useful in defining the epileptogenic zone in extratemporal and multilobar epilepsies. Stereo EEG recordings facilitated a tailored resection of extralesional cortex.

  9. Surgery for drug resistant partial epilepsy in children with focal cortical dysplasia: anatomical–clinical correlations and neurophysiological data in 10 patients

    PubMed Central

    Francione, S; Vigliano, P; Tassi, L; Cardinale, F; Mai, R; Lo, R; Munari, C

    2003-01-01

    Objective:To analyse a population of children with focal cortical dysplasia operated on for drug resistant partial epilepsy, with emphasis on clinical features, seizure semiology, interictal and ictal EEG and stereo EEG findings, histological and topographical characteristics of the lesions, extension and localisation of cerebral excision, and its postoperative effect on seizure frequency. Methods:10 patients were studied, aged between 26 months and 11 years (median 6 years). Magnetic resonance imaging (MRI) abnormalities were unilobar (temporal 3, frontal 2), bilobar (2), or multilobar (1); the two patients with negative MRI suffered from frontal seizures. Presurgical diagnostic steps varied in complexity and invasiveness depending on the anatomical/electrical/clinical features of each patient. In four patients they included only scalp video EEG monitoring, and in six, also invasive recordings using stereotactically implanted intracerebral electrodes. Surgery consisted of corticectomy plus lesionectomy in all cases. Results:70% of the patients were seizure-free after a minimum postoperative follow up of 25 months. These included three patients with temporal lesions and four of seven patients with other lobar or multilobar extratemporal localisation. One patient had improvement in seizure control. Outcome was poor in multilobar patients, but a class Ia outcome was obtained in one case after partial lesionectomy associated with bilobar corticectomy. All patients showed developmental improvement. Conclusions:Analysis of the data in these patients allowed the production of an "anatomical-clinical concordance" list, which appeared to be correlated with the diagnostic steps performed. Carrying out a stereo EEG exploration in the most complex cases proved useful in defining the epileptogenic zone in extratemporal and multilobar epilepsies. Stereo EEG recordings facilitated a tailored resection of extralesional cortex. PMID:14617703

  10. Cervical Dysplasia: Is It Cancer?

    MedlinePlus

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

  11. Genetics Home Reference: craniometaphyseal dysplasia

    MedlinePlus

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

  12. Genetics Home Reference: oculodentodigital dysplasia

    MedlinePlus

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

  13. Ectodermal dysplasia in identical twins

    PubMed Central

    Puttaraju, Gurkar Haraswarupa; Visveswariah, Paranjyothi Magadi

    2013-01-01

    Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facial esthetics and psychology of patients affected by this disease. PMID:23956595

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

    PubMed

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

    2017-09-01

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

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

    PubMed

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

    2001-02-01

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

  16. Developmental Dysplasia of the Hip

    MedlinePlus

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

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

    PubMed

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

    1993-04-01

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

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

    PubMed Central

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

    2017-01-01

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

  19. Ovarian epithelial dysplasia after ovulation induction: time and dose effects.

    PubMed

    Chene, G; Penault-Llorca, F; Le Bouëdec, G; Mishellany, F; Dauplat, M M; Jaffeux, P; Aublet-Cuvelier, B; Pouly, J L; Dechelotte, P; Dauplat, J

    2009-01-01

    Ovarian epithelial dysplasia was first described after prophylactic oophorectomies for genetic risk. Ovarian stimulation has been considered as a risk factor of ovarian cancer by Fathalla's incessant ovulation theory. In this study, we have investigated the risk of ovarian dysplasia after ovulation induction. We reviewed 99 oophorectomies or cystectomies between 1990 and 2005 divided them into two groups: previous in vitro fertilization (n = 37) and a panel of fertile controls (n = 62). Eleven epithelial cytological and architectural features were defined and an ovarian epithelial dysplasia score was calculated to quantify the degree of ovarian epithelial abnormalities. All the ovaries were macroscopically non-cancerous except in two patients (one endometrioid cancer and one borderline tumour). The mean ovarian dysplasia score was significantly higher in the ovulation induction group than in the control group (7.64 versus 3.62, P = 0.0002). We also found a relationship between the number of ovulation-inducted cycles and the severity of ovarian dysplasia ('dose-effect') and a relationship between time after the end of ovulation induction (over 7 years) and the severity of ovarian dysplasia ('time-effect'). There is probably a relationship between ovarian epithelial dysplasia and either ovulation inducing drugs or infertility. By Fathalla's incessant ovulation theory, 'the dose effect and the time effect' of ovarian stimulation may explain ovarian dysplasia formation.

  20. [Ovarian epithelial dysplasia: Description of a dysplasia scoring scheme].

    PubMed

    Chene, Gautier; Dauplat, Jacques; Raoelfils, Ines; Bignon, Yves-Jean; Cayre, Anne; Jaffeux, Patricia; Aublet-Cuvelier, Bruno; Pomel, Christophe; Penault-Llorca, Frédérique

    2011-02-01

    Precancerous ovarian epithelial dysplasia was first described after prophylactic oophorectomy (OP) for genetic risk (BRCA mutation) or because of a strong family history of ovarian and/or breast cancer. The objective of this study was to describe histopathological features of ovarian dysplasia and to propose a dysplasia scoring sheme with a cut-off. One hundred and twenty-five bilateral oophorectomies (genetic predisposition: n=35 and control group: n=90) were reviewed by two pathologists blinded to clinical data. Eleven epithelial cytological and architectural features were studied and an ovarian dysplasia score was defined to compare the degree of ovarian epithelial abnormalities between the two groups. Mean ovarian dysplasia score was significantly higher in prophylactic oophorectomy group than in control group (9.0 versus 3.5, P<0.001). Dysplasia was more severe in OP with BRCA mutation than in OP without (11.6 in BRCA 1; 7.6 in BCRA 2; 7.1 in family history). The cut off for dysplasia was 8 with a sensitivity of 60% and a specificity of 93.3%. The increased dysplasia score in OP and the gradation in dysplastic severity in OP with proven BRCA mutations may suggest that ovarian dysplasia could be a pre-malignant non invasive histopathological lesion. The 11 cytological and architectural features in the dysplasia scoring sheme could be a useful tool to study ovarian dysplasia. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  1. Seasonal variation in the frequency of sudden cardiac death and ventricular tachyarrhythmia in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy: the effect of meteorological factors.

    PubMed

    Chung, Fa-Po; Li, Hsin-Ru; Chong, Eric; Pan, Chih-Hsin; Lin, Yenn-Jiang; Chang, Shih-Lin; Lo, Li-Wei; Hu, Yu-Feng; Tuan, Ta-Chuan; Chao, Tze-Fan; Liao, Jo-nan; Lin, Wen-Yu; Shaw, Kai-Ping; Chen, Shih-Ann

    2013-12-01

    Sudden cardiac death (SCD) is the most catastrophic presentation in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). To investigate the seasonal variations in the frequency of SCD and ventricular tachyarrhythmia in patients with AVRD/C and to elucidate the meteorological factors that trigger these events. From 1998 to 2012, we enrolled 88 consecutive patients with ARVD/C from Taipei City. The cohort included 20 living patients who received implantable cardioverter-defibrillator (ICD) and 68 autopsied patients with SCD from the Taiwan National Forensic Institute registry. The baseline clinical characteristics, seasonal distribution, and associated meteorological factors were explored to predict the occurrences of events, which include appropriate ICD interventions and SCD. There were 106 events, including 38 (35.8%, 1.9 episodes per patient) appropriate ICD interventions in living patients with ARVD/C and 68 (64.2%) SCD events. The seasonal peak occurred predominantly in summer (P < .05) in both groups. For meteorological factors, the onset of event was associated with higher average daily temperature and longer sunshine duration. The variation in humidity within 3 days of events was significantly increased. After multivariate logistic regression analysis, higher average daily temperature and larger variation in humidity were associated with increase in events (odds ratio 1.23, 95% confidence interval 1.16-1.31, P < .001, and odds ratio 1.19, 95% confidence interval 1.15-1.23, P < .001, respectively). There was seasonal variation with a summer peak in the occurrence of ventricular arrhythmias and SCD in patients with ARVD/C. Meteorological factors including higher temperature and larger variation in humidity within 3 days of events were independently associated with the development of events. © 2013 Heart Rhythm Society Published by Heart Rhythm Society All rights reserved.

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

    PubMed

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

    1992-05-01

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

  3. Prophylactic intramedullary nailing in monostotic fibrous dysplasia.

    PubMed

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

    2008-06-01

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

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

    PubMed

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

    2015-01-01

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

  5. 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.

  6. Progressive Pseudorheumatoid Dysplasia or JIA?

    PubMed Central

    2017-01-01

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

  7. Low Risk of High-Grade Dysplasia or Esophageal Adenocarcinoma Among Patients With Barrett's Esophagus Less Than 1 cm (Irregular Z Line) Within 5 Years of Index Endoscopy.

    PubMed

    Thota, Prashanthi N; Vennalaganti, Prashanth; Vennelaganti, Sreekar; Young, Patrick; Gaddam, Srinivas; Gupta, Neil; Lieberman, David; Sampliner, Richard; Falk, Gary W; Mathur, Sharad; Kennedy, Kevin; Cash, Brooks D; Moawad, Fouad; Bansal, Ajay; Spaander, Manon C; Bruno, Marco J; Vargo, John; Sharma, Prateek

    2017-04-01

    Many patients with a < 1 cm segment of columnar metaplasia in the distal esophagus, also called an irregular Z line, are encountered. These patients, often referred to as patients with Barrett's esophagus (BE), are enrolled in surveillance programs. However, little is known about their risk of high-grade dysplasia (HGD) or esophageal adenocarcinoma (EAC). We aimed to determine the incidence of HGD and EAC in patients with irregular Z line with intestinal metaplasia. We performed a prospective, multicenter cohort study of patients who underwent endoscopic examination for BE at tertiary care referral centers in the United States and Europe. We analyzed data from 1791 patients (mean age, 56 ± 17 years) found to have non-dysplastic BE at the index endoscopy and after 1 year or more of follow-up. Patients were followed for a median of 5.9 years (interquartile range, 3.1-8.3 years). We calculated rates of progression to HGD or EAC between groups of patients with irregular Z line (n = 167) and those with BE of ≥ 1 cm (n = 1624). A higher proportion of patients in the irregular Z-line group were female (26.3%) than in the BE group (14.8% female BE) (P <.001). A lower proportion of patients in the irregular Z-line group were smokers (33.5%) than in the BE group (52.6% smokers). None of the patients with irregular Z line developed HGD or EAC during a median follow-up period of 4.8 years (interquartile range, 3.2-8.3 years). All 71 incident cases of HGD or EAC developed in patients with BE of ≥1 cm in length. On multivariate analysis, patients with irregular Z line and patients with BE of ≥ 1 cm did not differ significantly in age, race, or duration of follow-up. In a prospective, multicenter cohort study, we found that patients with irregular Z line do not develop HGD or esophageal cancer within 5 years after index endoscopy. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

  8. 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.

  9. 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.

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

    PubMed

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

    2017-03-01

    The fibrous sheath is a unique cytoskeletal structure surrounding the axoneme and outer dense fibres of the sperm flagellum. Dysplasia of the fibrous sheath (DFS) is a defect of spermatozoa observed in severe asthenozoospermic patients and characterised by morphologically abnormal flagella with distorted fibrous sheaths. Sperm-specific glyceraldehyde-3-phosphate dehydrogenase (GAPDS) is a glycolytic enzyme that is tightly associated with the fibrous sheath of the sperm flagellum. The enzymatic activity of GAPDS was investigated in sperm samples of seven patients with DFS and compared to that of normal spermatozoa (n = 10). The difference in GAPDS activity in DFS and normal spermatozoa was statistically significant (0.19 ± 0.11 and 0.75 ± 0.11 μmol NADH per min per mg protein respectively). Immunochemical staining revealed irregular distribution of GAPDS in the flagellum of DFS spermatozoa. Other five samples with typical alterations in the fibrous sheath were assayed for mutations within human GAPDS gene. In all five cases, a replacement of guanine by adenine was revealed in the intron region between the sixth and the seventh exons of GAPDS. It is assumed that the deficiency in GAPDS observed in most DFS sperm samples is ascribable to a disorder in the regulation of GAPDS expression caused by the mutation in the intron region of GAPDS gene. © 2016 Blackwell Verlag GmbH.

  11. Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.

    PubMed

    Kraoua, Lilia; Chaabouni, Myriam; Ewers, Elisabeth; Chelly, Imen; Ouertani, Ines; Ben Jemaa, Lamia; Maazoul, Faouzi; Liehr, Thomas; Chaabouni, Habiba

    2011-01-01

    Derivatives of chromosome 15, often referred to as inv dup(15), represent the most common supernumerary marker chromosome (SMC). SMC(15)s can be classified into two major groups according to their length: small SMC(15) and large ones. Depending on the amount of euchromatin, the carriers may either present with a normal phenotype or with a recognizable syndrome. Here we describe a patient with severe mental retardation, epilepsy, dysmorphic features and pigmentary dysplasia. His karyotype was 47,XY,+mar[41]/46,XY[9]. Chromosomal fluorescence in situ hybridization (FISH) showed the SMC to be originating from chromosome 15, dicentric and containing four copies of the Prader-Willi/Angelman Syndrome Critical Region (PWACR), including the OCA2 gene. Molecular studies indicated that it is maternally derived. This report supports the previous observations assuming that severity of phenotype in patients with SMC(15) depends on the dosage of the PWACR and that skin pigmentation is correlated to OCA2 gene copy number. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

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

    SciTech Connect

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

    2010-04-15

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

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

    PubMed

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

    2000-01-01

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

  14. Oral Rehabilitation of a Patient With Ectodermal Dysplasia Treated With Fresh-Frozen Bone Allografts and Computer-Guided Implant Placement: A Clinical Case Report.

    PubMed

    Maiorana, Carlo; Poli, Pier Paolo; Poggio, Carlo; Barbieri, Paola; Beretta, Mario

    2017-05-01

    Ectodermal dysplasia (ED) is an inherited disorder characterized by abnormality of ectodermally derived structures. A recurrent oral finding is oligodontia, which in turn leads to a severely hypotrophic alveolar process with typical knife-edge morphology and adverse ridge contours. This unfavorable anatomy can seriously hamper proper implant placement. Fresh-frozen bone (FFB) allografts recently have been proposed to augment the residual bone volume for implant placement purposes; however, scientific evidence concerning the use of FFB to treat ED patients is absent. Similarly, data reporting computer-aided template-guided implant placement in medically compromised patients are limited. Thus the purpose of this report is to illustrate the oral rehabilitation of a female patient affected by ED and treated with appositional FFB block grafts and consecutive computer-guided flapless implant placement in a 2-stage procedure. Fixed implant-supported dental prostheses were finally delivered to the patient, which improved her self-esteem and quality of life. During the follow-up recall 1 year after the prosthetic loading, the clinical examination showed healthy peri-implant soft tissues with no signs of bleeding on probing or pathologic probing depths. The panoramic radiograph confirmed the clinical stability of the result. Peri-implant marginal bone levels were radiographically stable with neither pathologic bone loss at the mesial and distal aspects of each implant nor peri-implant radiolucency. Within the limitations of this report, the use of FFB allografts in association with computer-aided flapless implant surgery might be considered a useful technique in patients affected by ED. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  15. 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

  16. The patellofemoral joint: from dysplasia to dislocation.

    PubMed

    Zaffagnini, Stefano; Grassi, Alberto; Zocco, Gianluca; Rosa, Michele Attilo; Signorelli, Cecilia; Muccioli, Giulio Maria Marcheggiani

    2017-05-01

    Patellofemoral dysplasia is a major predisposing factor for instability of the patellofemoral joint. However, there is no consensus as to whether patellofemoral dysplasia is genetic in origin, caused by imbalanced forces producing maltracking and remodelling of the trochlea during infancy and growth, or due to other unknown and unexplored factors.The biomechanical effects of patellofemoral dysplasia on patellar stability and on surgical procedures have not been fully investigated. Also, different anatomical and demographic risk factors have been suggested, in an attempt to identify the recurrent dislocators. Therefore, a comprehensive evaluation of all the radiographic, MRI and CT parameters can help the clinician to assess patients with primary and recurrent patellar dislocation and guide management.Patellofemoral dysplasia still represents an extremely challenging condition to manage. Its controversial aetiology and its complex biomechanical behaviour continue to pose more questions than answers to the research community, which reflects the lack of universally accepted guidelines for the correct treatment. However, due to the complexity of this condition, an extremely personalised approach should be reserved for each patient, in considering and addressing the anatomical abnormalities responsible for the symptoms. Cite this article: EFORT Open Rev 2017;2. DOI: 10.1302/2058-5241.2.160081. Originally published online at www.efortopenreviews.org.

  17. Risk factors associated with Barrett’s epithelial dysplasia

    PubMed Central

    Fujita, Mikiko; Nakamura, Yuri; Kasashima, Saeko; Furukawa, Maiko; Misaka, Ryoichi; Nagahara, Hikaru

    2014-01-01

    AIM: To elucidate risk factors associated with dysplasia of short-segment Barrett’s esophagus (BE). METHODS: A total of 151 BE patients who underwent endoscopic examination from 2004 to 2008 in Aoyama Hospital, Tokyo Women’s Medical University, Japan and whose diagnosis was confirmed from biopsy specimens were enrolled in the study. BE was diagnosed based on endoscopic findings of gastric-appearing mucosa or apparent columnar-lined esophagus proximal to the esophagogastric junction. Dysplasia was classified into three grades - mild, moderate and severe - according to the guidelines of the Vienna Classification System for gastrointestinal epithelial neoplasia. Anthropometric and biochemical data were analyzed to identify risk factors for BE dysplasia. The prevalence of Helicobacter pylori (H. pylori) infection and the expression of p53 by immunohistological staining were also investigated. RESULTS: Histological examination classified patients into three types: specialized columnar epithelium (SCE) (n = 65); junctional (n = 38); and gastric fundic (n = 48). The incidence of dysplasia or adenocarcinoma from BE of the SCE type was significantly higher than that of the other two types (P < 0.01). The univariate analysis revealed that sex, H. pylori infection, body weight, p53 overexpression, and low diastolic blood pressure (BP) were associated with BE dysplasia. In contrast, body mass index, waist circumference, metabolic syndrome complications, and variables related to glucose or lipid metabolism were not associated with dysplasia. Multivariate logistic analysis showed that overexpression of p53 [odds ratio (OR) = 13.1, P = 0.004], H. pylori infection (OR = 0.19, P = 0.066), and diastolic BP (OR = 0.87, P = 0.021) were independent risk factors for epithelial dysplasia in BE patients with the SCE type. CONCLUSION: Overexpression of p53 is a risk factor for dysplasia of BE, however, H. pylori infection and diastolic BP inversely associated with BE dysplasia might be

  18. 6D.03: FLOW-MEDIATED DILATATION (FMD) AND ENDOTHELIUM-INDEPENDENT DILATATION (EID) IN PATIENTS WITH MULTIFOCAL FIBROMUSCULAR DYSPLASIA: A CROSS-SECTIONAL STUDY.

    PubMed

    Khettab, H; Lorthior, A; Niarra, R; Chambon, Y; Jeunemaitre, X; Plouin, P F; Laurent, S; Boutouyrie, P; Azizi, M

    2015-06-01

    Fibromuscular dysplasia (FD) is a rare idiopathic, segmental, non-atherosclerotic non-inflammatory vascular disease. We previously showed that FD is a general arterial disease with focal exacerbation of the trait. However, whether endothelial dysfunction may be involved in the pathophysiology of FD is unclear. In a cross sectional study, we compared the endothelial function between 50 patients with multifocal FD of renal/carotid arteries confirmed by CT-angiography, 50 essential hypertensive (EH) patients matched for age, sex, ethnicity and BP and 50 healthy subjects (HS) matched for age, sex and ethnicity. Exclusion criteria were: tobacco consumption, hypercholesterolemia, diabetes, aspirin or statin treatment. Brachial artery (BA) FMD after release of hand ischemia and glyceryl trinitrate (GTN)-induced EID was measured using a high-resolution radiofrequency-based echotracking system blind to the diagnosis. FD, EH and HS were well matched (52yrs, 85% women, 80% caucasian). SBP was higher in FD (125 ± 15mmHg) and EH (121 ± 12mmHg) than EH (113 ± 10mmHg) despite antihypertensive treatments. BA external diameter was significantly lower in FD than in both HS and EH before, during and after hand ischemia and after GTN. BA intima media thickness (IMT), internal diameter did not differ between the 3 groups. FMD (%) or EID (%) did not significantly differ between the 3 groups. BA flow velocity did not significantly differ in any experimental condition.(Figure is included in full-text article.) : In conclusion, despite showing similar acute vasodilatory responses to flow and GTN, FD patients differed from EH and HS in terms of arterial morphology with smaller BA diameter associated with similar IMT. This paradoxical remodeling may suggest a chronic defect in the endothelium-dependent pathways involved in arterial remodeling in FD patients.

  19. Bronchopulmonary dysplasia: incidence and risk factors.

    PubMed

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

    2017-10-01

    Bronchopulmonary dysplasia is the most common chronic pulmonary sequela among very low birth weight infants. The objective of this study was to estimate its incidence in our Neonatal Unit over the past 5 years and analyze associated risk factors. An observational and analytical study was conducted in a retrospective cohort, using data obtained from a prospective database of infants born at Hospital Italiano de Buenos Aires with a birth weight of less than 1500 grams between January 2010 and December 2014. The incidence of bronchopulmonary dysplasia and its association with several secondary outcome measures were studied. Two hundred and forty-five patients were included. The incidence of moderate/severe bronchopulmonary dysplasia was 22%, and it was associated with a younger gestational age and lower birth weight. A significant association was observed with surfactant use, mechanical ventilation requirement, and length of mechanical ventilation. Patients with moderate/severe bronchopulmonary dysplasia had a higher incidence of patent ductus arteriosus and late-onset sepsis. A lower birth weight (adjusted odds ratio |-#91;aOR|-#93;: 0.99, 95% confidence interval |-#91;CI|-#93;: 0.991-0.997, p< 0.001) and the length of mechanical ventilation (aOR: 1.08, 95% CI: 1.01-1.15, p < 0.01) remained associated following adjustment for other outcome measures. In addition, an association was observed among patients with intrauterine growth restriction born at less than 32 weeks of gestational age (OR: 4.71, 95% CI: 1.68-13.2). The incidence ofbronchopulmonary dysplasia in our unit was associated with a lower birth weight and the length of mechanical ventilation. Among infants born at less than 32 weeks of gestation, intrauterine growth restriction accounted for an additional risk.

  20. Application of three-dimensional computerised tomography reconstruction and image processing technology in individual operation design of developmental dysplasia of the hip patients.

    PubMed

    Xuyi, Wang; Jianping, Peng; Junfeng, Zhu; Chao, Shen; Yimin, Cui; Xiaodong, Chen

    2016-02-01

    Acetabular coverage deficiency displays individual difference among patients with developmental dysplasia of the hip (DDH). Therefore, the correct direction and degree of the acetabular fragment is patient-specific during Bernese periacetabular osteotomy (PAO). This paper introduces a feasible method using 3D computed tomography (CT) and computer image processing technology for customised surgical planning. CT data of 96 hips in 60 DDH patients (male 15, female 45; average age/range 30 ± 8/14-49 years) and 53 normal hips (male 13, female 37; average age/range 52 ± 13/16-69 years) were reconstructed using commercially available software Mimics and Imageware. Geometric parameters of each hip were measured in relation to the anterior pelvic plane after correcting for pelvic tilt and rotation. Deficiency types and degrees of acetabular dysplasia in patients with DDH were determined by comparison with normal hips, and improvement in femoral-head coverage was analysed again after virtual PAO. A customised surgery programme for each DDH patient was designed and provided the reference for the actual operation. We produced a 3D pelvic model using image processing software, doing precise measurement and with close approximation to the actual PAO. Lateral centre-edge angle (LCEA), anterior centre-edge angle (ACEA), acetabular anteversion angle (AAVA), anterior acetabular sector angle (AASA) and posterior acetabular sector angle (PASA) of normal hips in the control group were 35.128 ± 6.337, 57.052 ± 6.853, 19.215 ± 5.504, 61.537 ± 7.291 and 99.434 ± 8.372°, respectively. Angles of hips with DDH before surgery were 11.46 ± 11.19, 35.79 ± 13.75, 22.77 ± 6.13, 43.58 ± 9.15 and 88.46 ± 8.24, which were corrected to 33.81 ± 2.36, 55.38 ± 2.09, 20.16 ± 2.18, 58.29 ± 7.60, and 4.71 ± 7.75°, respectively, after surgery. After virtual Bernese PAO, LCEA, ACEA, AAVA, AASA and PASA were corrected

  1. 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.

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

    PubMed Central

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

    2012-01-01

    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. PMID:22629069

  3. Association between serrated epithelial changes and colorectal dysplasia in inflammatory bowel disease.

    PubMed

    Parian, Alyssa; Koh, Joyce; Limketkai, Berkeley N; Eluri, Swathi; Rubin, David T; Brant, Steven R; Ha, Christina Y; Bayless, Theodore M; Giardiello, Francis; Hart, John; Montgomery, Elizabeth; Lazarev, Mark G

    2016-07-01

    Serrated epithelial change (SEC) is a histologic finding in longstanding colitis that may be associated with dysplasia. Our primary aim was to determine the incidence of dysplasia and colorectal cancer (CRC) in inflammatory bowel disease (IBD) patients with SEC. Secondary aims were to determine the rate of location concordance between SEC and dysplasia/CRC and to identify other risk factors associated with dysplasia in IBD patients with SEC. A retrospective, descriptive, observational study was performed by searching the Pathology Data System at a single tertiary referral center for a histologic finding of "serrated epithelial change." The patient's first pathology specimen with SEC was designated the index SEC. All subsequent pathology reports were evaluated for the occurrence and location of dysplasia or CRC. Univariable and multivariable logistic regression were performed to identify predictors of dysplasia. There were 187 patients with confirmed IBD and 1 or more histologic findings of SEC without prior dysplasia. Mean IBD duration was 16 years, and median follow-up time was 28 months. The rate of high-grade dysplasia or CRC was 17 per 1000 patient-years. Thirty-nine of 187 patients (21%) had synchronous or metachronous dysplasia or CRC. Location concordance was 68%. Multivariable analysis found SEC on follow-up examinations, older age at IBD diagnosis, male gender, and a first-degree relative with CRC were associated with dysplasia in IBD patients with SEC. This uncontrolled study describes a high frequency of dysplasia in patients with a histologic finding of SEC. SEC seen on successive endoscopic examinations further increased the risk of dysplasia. Further controlled studies are needed to determine if SEC is a precancerous lesion in IBD patients and if SEC can be endoscopically identified. Copyright © 2016 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.

  4. Congenital Ocular Dystopia from Orbitofrontal Bone Dysplasia.

    PubMed

    Swanson, Jordan W; Bartlett, Scott P

    2016-01-01

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

  5. Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.

    PubMed

    Kochhar, Aaina; Kirmani, Salman; Cetta, Frank; Younge, Brian; Hyland, James C; Michels, Virginia

    2013-12-01

    The acromelic dysplasias comprise short stature, hands and feet, and stiff joints. Three disorders are ascribed to this group, namely Weill-Marchesani syndrome, geleophysic dysplasia, and acromicric dysplasia, although similar in phenotype, can be distinguished clinically. Weill-Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac valvular thickening, tracheal stenosis, and/or bronchopulmonary insufficiency, often leading to early death. Microspherophakia has not been reported previously in geleophysic dysplasia. Mutations in FBN1, ADAMTS10, or ADAMTS17 cause Weill-Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF-β signaling mediated through mutations in FBN1 or ADAMTSL2. We studied a 35-year-old woman with geleophysic dysplasia, with short stature, small hands and feet, limitation of joint mobility, mild skin thickening, cardiac valvular disease, restrictive pulmonary disease, and microspherophakia. Sequencing of ADAMTSL2 demonstrated two changes: IVS8-2A>G consistent with a disease-causing mutation, and IVS14-7G>A with potential to generate a new splice acceptor site and result in aberrant mRNA processing. The unaffected mother carries only the IVS8-2A>G transition providing evidence that the two changes are in trans-configuration in our patient. © 2013 Wiley Periodicals, Inc.

  6. Compatibility of MRI and FDG-PET findings with histopathological results in patients with focal cortical dysplasia.

    PubMed

    Halac, Gulistan; Delil, Sakir; Zafer, Dila; Isler, Cihan; Uzan, Mustafa; Comunoglu, Nil; Oz, Buge; Yeni, S Naz; Vatankulu, Betul; Halac, Metin; Ozkara, Cıgdem

    2017-02-01

    The present study aimed to determine if the specific characteristics of fluorodeoxyglucose-positron emission tomography (FDG-PET) analyses of the FCD subgroups were compatible with the magnetic resonance imaging (MRI) and clinical findings of the patients in these subgroups. This study included 71 patients who had a presurgical evaluation workup performed due to drug-resistant seizures, who underwent epilepsy surgery, and who were histopathologically diagnosed with FCD. Relationships involving MRI and FDG-PET findings and clinical data from pathological subgroups and patients were assessed. According to the International League Against Epilepsy (ILAE) classifications of FCD, 28 of the patients were type I and 43 were type II. FCD was visible on the MRI scans of 53 patients, and a majority of this group was classified as type II FCD (n=34). Of these 53 patients, FCD was located in the temporal area of 21 patients, the extratemporal area of 29 patients. Of the patients who exhibited FDG-PET hypometabolism (PET-positive), 23 were classified as temporal, 17 as frontal, 11 showed involvement of the posterior cortex. The age of seizure onset was younger in PET-positive patients (p=0.032), and histopathological analyses revealed that 23 patients had type I FCD and 30 patients had type II FCD. PET scans reveal a lesion by showing hypometabolism in patients who have refractory epilepsy and an early age of onset with FCD. The lesions of MRI-negative/PET-positive FCD patients tend to be localized in the temporal lobe and that FCD may be localized in the frontal lobe of MRI-negative/PET-negative patients. However, the histopathological examinations of MRI-positive/PET-positive, MRI-negative/PET-positive, and MRI-negative/PET-negative patients did not exhibit a particular histopathological subtype. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  7. Association between serrated epithelial changes and colorectal dysplasia in inflammatory bowel disease

    PubMed Central

    Parian, Alyssa; Koh, Joyce; Limketkai, Berkeley N.; Eluri, Swathi; Rubin, David T.; Brant, Steven R.; Ha, Christina Y.; Bayless, Theodore M.; Giardiello, Francis; Hart, John; Montgomery, Elizabeth; Lazarev, Mark G.

    2017-01-01

    Background and Aims Serrated epithelial change (SEC) is a histologic finding in longstanding colitis that may be associated with dysplasia. Our primary aim was to determine the incidence of dysplasia and colorectal cancer (CRC) in inflammatory bowel disease (IBD) patients with SEC. Secondary aims were to determine the rate of location concordance between SEC and dysplasia/CRC and to identify other risk factors associated with dysplasia in IBD patients with SEC. Methods A retrospective, descriptive, observational study was performed by searching the Pathology Data System at a single tertiary referral center for a histologic finding of “serrated epithelial change.” The patient’s first pathology specimen with SEC was designated the index SEC. All subsequent pathology reports were evaluated for the occurrence and location of dysplasia or CRC. Univariable and multivariable logistic regression were performed to identify predictors of dysplasia. Results There were 187 patients with confirmed IBD and 1 or more histologic findings of SEC without prior dysplasia. Mean IBD duration was 16 years, and median follow-up time was 28 months. The rate of high-grade dysplasia or CRC was 17 per 1000 patient-years. Thirty-nine of 187 patients (21%) had synchronous or metachronous dysplasia or CRC. Location concordance was 68%. Multivariable analysis found SEC on follow-up examinations, older age at IBD diagnosis, male gender, and a first-degree relative with CRC were associated with dysplasia in IBD patients with SEC. Conclusions This uncontrolled study describes a high frequency of dysplasia in patients with a histologic finding of SEC. SEC seen on successive endoscopic examinations further increased the risk of dysplasia. Further controlled studies are needed to determine if SEC is a precancerous lesion in IBD patients and if SEC can be endoscopically identified. (Gastrointest Endosc 2016;84:87-95.) PMID:26709112

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-04-20

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

  10. Imaging of craniofacial fibrous dysplasia.

    PubMed

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

    2008-08-01

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

  11. Familial ectodermal dysplasia: a peers’ agony

    PubMed Central

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

    2013-01-01

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

  12. Severity grading in radial dysplasia.

    PubMed

    Vilkki, S K

    2014-11-01

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

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

    PubMed

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

    2017-12-01

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

  14. Current Management of Low-Grade Dysplasia in Barrett Esophagus

    PubMed Central

    2017-01-01

    Low-grade dysplasia in Barrett esophagus remains an ongoing challenge in clinical management. Recent studies suggest an increased risk in progression of low-grade dysplasia to high-grade dysplasia and/or adenocarcinoma. This is especially seen when 1 or more expert gastrointestinal pathologist confirms the diagnosis and in the setting of low-grade dysplasia that persists on more than 1 endoscopy. In the setting of confirmed and persistent low-grade dysplasia, level 1 evidence supports endoscopic ablation as a treatment option for these patients, although continued surveillance remains a viable option. Current management of these patients emphasizes the importance of the following principles: (1) biopsies should not be obtained in the setting of erosive esophagitis; (2) any diagnosis of low-grade dysplasia should be confirmed by a second pathologist with extensive expertise in Barrett esophagus; (3) surveillance endoscopy should be repeated within 3 to 6 months of the initial diagnosis with rigorous visual inspection to exclude higher-level lesions; and (4) the advantages and disadvantages of both endoscopic ablation and continued surveillance should be reviewed with the patient. PMID:28546793

  15. Bone-Grafting in Polyostotic Fibrous Dysplasia

    PubMed Central

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

    2016-01-01

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

  16. Dedifferentiated adamantinoma associated with fibrous dysplasia.

    PubMed

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

    2011-11-01

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

  17. Increasing substance P levels in serum and synovial tissues from patients with developmental dysplasia of the hip (DDH).

    PubMed

    Wang, Hui; Zheng, Xin-Feng; Zhang, Xiang; Li, Zheng; Shen, Chao; Zhu, Jun-Feng; Cui, Yi-Min; Chen, Xiao-Dong

    2014-03-19

    The tachykininergic neurotransmitters have been proved to be involved in the inflammatory progress and chronic pain in series of disease. The present study was undertaken to evaluate the levels of substance P (SP) and its receptors NK-1 receptor (NK-1R) in both serum and synovial tissues of hip joint from patients with different stages of DDH, and to detect the possible correlation of serum SP levels with pain sensation and dysfunction of the hip joint. SP levels in serum and synovial tissues from patients with DDH and DDH combined with osteoarthritis (DDH&OA) group were compared through immunohistochemistry (IHC), ELISA, and 2-step acetic acid extraction method respectively. Expression of NK-1R in synovial tissues was compared through IHC, quantitive Real-Time PCR (QRT-PCR) and Western-Blot. The severities of pain sensation and the functional activities of hip joint were assessed by Visual analogue scale (VAS) and Harris hip score (HHS). Correlations of serum SP levels with VAS, HHS and erythrocyte sedimentation rate (ESR) were evaluated respectively in these groups. Significantly elevated serum SP levels were detected in group of DDH and DDH&OA compared to that in normal group. IHC, QRT-PCR as well as tissue Elisa showed that SP levels in synovial tissue of DDH&OA group is stronger than that in DDH group. Serum SP levels in each group have no gender differences. The enhanced SP levels in synovial tissue mainly came from the segregation of peripheral nerve endings. Serum SP correlated with VAS and HHS in patients with DDH&OA (Male + Female). Serum SP correlated with HHS in patients with DDH (Male). Serum SP levels also correlated with erythrocyte sedimentation rate (ESR) in patients with DDH&OA (Male + Female). Up-regulated expression of NK-1R was also observed in synovial tissue of patients with DDH&OA compared to patients with DDH, through western-blot, IHC, and QRT-PCR. These findings indicated that the increasing SP levels in serum and synovial tissues

  18. Increasing substance P levels in serum and synovial tissues from patients with developmental dysplasia of the hip (DDH)

    PubMed Central

    2014-01-01

    Background The tachykininergic neurotransmitters have been proved to be involved in the inflammatory progress and chronic pain in series of disease. The present study was undertaken to evaluate the levels of substance P (SP) and its receptors NK-1 receptor (NK-1R) in both serum and synovial tissues of hip joint from patients with different stages of DDH, and to detect the possible correlation of serum SP levels with pain sensation and dysfunction of the hip joint. Methods SP levels in serum and synovial tissues from patients with DDH and DDH combined with osteoarthritis (DDH&OA) group were compared through immunohistochemistry (IHC), ELISA, and 2-step acetic acid extraction method respectively. Expression of NK-1R in synovial tissues was compared through IHC, quantitive Real-Time PCR (QRT-PCR) and Western-Blot. The severities of pain sensation and the functional activities of hip joint were assessed by Visual analogue scale (VAS) and Harris hip score (HHS). Correlations of serum SP levels with VAS, HHS and erythrocyte sedimentation rate (ESR) were evaluated respectively in these groups. Results Significantly elevated serum SP levels were detected in group of DDH and DDH&OA compared to that in normal group. IHC, QRT-PCR as well as tissue Elisa showed that SP levels in synovial tissue of DDH&OA group is stronger than that in DDH group. Serum SP levels in each group have no gender differences. The enhanced SP levels in synovial tissue mainly came from the segregation of peripheral nerve endings. Serum SP correlated with VAS and HHS in patients with DDH&OA (Male + Female). Serum SP correlated with HHS in patients with DDH (Male). Serum SP levels also correlated with erythrocyte sedimentation rate (ESR) in patients with DDH&OA (Male + Female). Up-regulated expression of NK-1R was also observed in synovial tissue of patients with DDH&OA compared to patients with DDH, through western-blot, IHC, and QRT-PCR. Conclusions These findings indicated that the increasing SP

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

    PubMed

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

    2013-05-01

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

  20. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management

    PubMed Central

    Singh, Ronauk; Singh, Gurendra Pal; Singh, Jitender pal

    2013-01-01

    ABSTRACT Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structure and other accessory appendages. The oral manifestations are anodontia and poor bony foundation which impairs both esthetic as well as the masticatory function. The prosthodontic management of patients with such dysplastic condition necessitates a multidisciplinary approach. This case report describes the prosthodontic oral rehabilitation of a 16 years old female pediatric patient with ectodermal dysplasia. How to cite this article: Singh T, Singh R, Singh GP, Singh JP. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management. Int J Clin Pediatr Dent 2013;6(2):140-145. PMID:25206210

  1. 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.

  2. Monostotic fibrous dysplasia with Raynaud's phenomenon

    PubMed Central

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

    2015-01-01

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

  3. Fibromuscular Dysplasia and Intravenous Thrombolytic Treatment

    PubMed Central

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

    2014-01-01

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

  4. 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.

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

    PubMed

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

    2014-11-01

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

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

    PubMed

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

    2012-01-01

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

  7. Methylation of p16 CpG island associated with malignant progression of oral epithelial dysplasia: a prospective cohort study.

    PubMed

    Cao, Jie; Zhou, Jing; Gao, Yan; Gu, Liankun; Meng, Huanxin; Liu, Hongwei; Deng, Dajun

    2009-08-15

    Inactivation of p16 gene by CpG methylation is a frequent event in oral epithelial dysplasia. To investigate the predictive value of p16 methylation on malignant potential in oral epithelial dysplasia, we carried out the prospective cohort study. One hundred one patients with histologically confirmed mild or moderate oral epithelial dysplasia were included in the present cohort study. p16 Methylation status of the oral epithelial dysplasia lesions from 93 cases was obtained by methylation-specific PCR. Progression of the oral epithelial dysplasia lesions was examined in 78 cases histologically during a 45.8 months follow-up period. The association between p16 methylation and progression of oral epithelial dysplasia was analyzed. Of the 93 enrolled cases, 15 cases were lost during the follow-up because of changes of contact information, with a compliance of 83.9%. p16 Methylation was detectable in oral epithelial dysplasia lesions from 32 (41.0%) of 78 enrolled patients. Oral epithelial dysplasia-related squamous cell carcinomas were observed in 22 patients (28.2%) during the follow-up. Rate of progression to oral cancer in patients with the p16-methylated oral epithelial dysplasia was significantly higher than that with the p16-unmethylated oral epithelial dysplasia (43.8% versus 17.4%; adjusted odds ratio, 3.7; P = 0.013), especially for patients at the baseline age of > or = 60 years (adjusted odds ratio, 12.0; P = 0.003) and patients with moderate oral epithelial dysplasia (adjusted odds ratio, 15.6; P = 0.022). The overall sensitivity and specificity of prediction of malignant transformation of oral epithelial dysplasia by p16 methylation were 63.6% and 67.9%, respectively. p16 Methylation was correlated with malignant transformation of oral epithelial dysplasia and is a potential biomarker for prediction of prognosis of mild or moderate oral epithelial dysplasia.

  8. Skeletal Dysplasias: An Overview.

    PubMed

    Offiah, Amaka C

    2015-01-01

    Constitutional disorders of bone, commonly termed skeletal dysplasias (SDs), are inherited disorders of cartilage and/or bone that affect their growth, morphometry and integrity. Associated skeletal abnormalities are usually but not invariably symmetrical. They may be classified as osteochondrodysplasias, which are conditions associated with abnormalities of the growth (dysplasias) or texture (osteodystrophy) of bone and/or cartilage, or dysostoses, which are conditions secondary to abnormal blastogenesis (occurring at or around the 6th week of in utero life). Skeletal involvement may also occur in other multisystem hereditary and acquired syndromes. The 2010 Nosology and Classification of Genetic Skeletal Disorders listed 456 conditions, of which approximately 50 are perinatally lethal, and 316 are associated with one or more of 226 genes. When an SD is suspected, a standard series of radiographs, collectively known as a skeletal survey, should be performed. The diagnosis of individual conditions is highly dependent on radiographic pattern recognition, which is achieved through a systematic review of the images and enhanced by discussion with colleagues and through the use of available tools, such as atlases and digital databases. This article summarises a systematic approach to the diagnosis of SDs, demonstrated using examples of some of the more common lethal and non-lethal conditions. © 2015 S. Karger AG, Basel.

  9. 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.

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

    PubMed

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

    2015-01-01

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

  11. Oral lichen planus versus epithelial dysplasia: difficulties in diagnosis.

    PubMed

    Sousa, Fernando Augusto Cervantes Garcia de; Paradella, Thaís Cachuté; Brandão, Adriana Aigotti Haberbeck; Rosa, Luiz Eduardo Blumer

    2009-01-01

    Histopathological diagnosis of oral lichen planus is not easy since some cases of epithelial dysplasia may present traits which are very similar to those from lichen planus. to compare cell alterations which suggest malignancy present in oral lichen planus with those from epithelial dysplasia. histological cross-sections of oral lichen planus and dysplasia, dyed by hematoxylin-eosin, were analyzed by means of light microscopy. variance analysis (alpha=5%) revealed a statistically significant difference between the average number of cell alterations in the lichen planus (5.83 + or - 1.61) and epithelial dysplasia (4.46 + or - 1.26). The chi-squared test did not show statistically significant differences between oral lichen planus and epithelial dysplasia in relation to the following cell alterations: increase in nucleus/cytoplasm ratio, nuclear hyperchromatism, irregular chromatin distribution and enlarged nuclei (p>0.05). Some cell alterations which suggest malignancy present in the oral lichen planus may also be found in epithelial dysplasia, impairing its diagnosis and, consequently, stressing the importance of following these patients in the long run.

  12. Myometrial dysplasia (atypical myometrial hyperplasia).

    PubMed

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

    2007-04-01

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

  13. 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

  14. 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

    2016-03-11

    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.

  15. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

    PubMed

    Savoldi, Gianfranco; Izzi, Claudia; Signorelli, Marino; Bondioni, Maria Pia; Romani, Chiara; Lanzi, Gaetana; Moratto, Daniele; Verdoni, Lucio; Pinotti, Moira; Prefumo, Federico; Superti-Furga, Andrea; Pilotta, Alba

    2013-10-01

    Wave-shaped ribs were detected at prenatal ultrasound in a 20(+1) week female fetus. At birth, skeletal radiographs showed marked hypomineralization and suggested hypophosphatasia. However, elevated blood calcium and alkaline phosphatase excluded hypophosphatasia and raised the possibility of Jansen metaphyseal dysplasia. Molecular analysis of the PTH/PTHrP receptor gene (PTH1R) showed heterozygosity for a previously undescribed transversion variant (c.1373T>A), which predicts p.Ile458Lys. In vitro evaluation of wild type and mutant PTH/PTHrP receptors supported the pathogenic role of the p.Ile458Lys substitution, and confirmed the diagnosis of Jansen metaphyseal dysplasia. This disorder may present prenatally with wavy ribs and in the newborn with hypomineralization, and may therefore be confused with hypophosphatasia. The mottled metaphyseal lesions typically associated with this disease appear only in childhood. Copyright © 2013 Wiley Periodicals, Inc.

  16. 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 ...

  17. 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 ...

  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. Genetics Home Reference: Kniest dysplasia

    MedlinePlus

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

  20. Genetics Home Reference: frontometaphyseal dysplasia

    MedlinePlus

    ... of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1 , ... Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called ...

  1. Guide to Understanding Frontonasal Dysplasia

    MedlinePlus

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

  2. Genetics Home Reference: gnathodiaphyseal dysplasia

    MedlinePlus

    ... be a variation of another bone disorder called osteogenesis imperfecta , which is also characterized by frequent bone fractures. ... considered to be a separate condition. Unlike in osteogenesis imperfecta , the fractures in gnathodiaphyseal dysplasia heal normally without ...

  3. Retinal manifestations in fibromuscular dysplasia.

    PubMed

    Meire, F M; De Laey, J J; Van Thienen, M N; Schuddinck, L

    1991-01-01

    Fibromuscular dysplasia of the arteries (FMD) is a segmental angiopathy which may produce obstruction of the carotid, cerebral, renal, mesenteric, coronary or iliac arteries. Except for lesions related to arterial hypertension, retinal manifestations have not yet been reported. This paper describes the case of a 10-year-old boy with progressive deafness, a history of an unexplained stroke and progressive occlusions of the retinal arterioles in the fundus periphery. This resulted in retinal neovascularization and recurrent retinal and vitreous hemorrhages. Despite repeated photo- and cryocoagulation the eyes progressed to a tractional retinal detachment which was successfully treated by vitrectomy and scleral buckling. The diagnosis of FMD was made on the basis of a histopathological examination of a temporal artery biopsy. The child also presented an asymptomatic but severe aneurysmal dilatation of the aorta and CT scan and MRI showed dilated cerebral arteries. The father of our patient had died at the age of 27 years either from myocardial infarction or rupture of a dissecting aortic aneurysm. He was highly myopic and had lost one eye from retinal detachment. The younger brother of our patient also presents aneurysmal dilatation of the aorta and tortuous cerebral vessels. Ocular examination is still normal. The findings in this family are compatible with an autosomal dominant inheritance with variable expression.

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

    PubMed

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

    1979-05-01

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

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

    PubMed

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

    2011-02-01

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

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

    PubMed

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

    2014-04-01

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

  7. 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. Copyright © 2014 Elsevier Ltd. All rights reserved.

  8. Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report.

    PubMed

    Nakaya, Takeo; Hyuga, Taiju; Tanaka, Yukichi; Kawai, Shina; Nakai, Hideo; Niki, Toshiro; Tanaka, Akira

    2017-04-01

    Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dysplasia is observed in renal dysplasia-associated syndromes, which are combinations of multiple developmental malformations and include VACTERL association. We observed the following multiple developmental malformations in a 108-day-old male infant during a nephrectomy: a nonfunctioning right kidney with VUR, hemidiaphragmatic eventration, a ventricular septal defect (VSD) with tetralogy of Fallot in the heart, cryptorchidism, and hyperdactylia. These developmental anomalies satisfied the diagnostic criteria for VACTERL association. A surgical specimen of the right nonfunctioning kidney revealed prominent cartilaginous metaplasia in the renal dysplasia with VUR. The densities of the ectopic cartilaginous lesions in this nonfunctioning kidney were extraordinarily high compared with other renal dysplasia cases. Giemsa banding of his genome produced normal results. The patient has not undergone further detailed genomic investigation. This case might be a novel type of VACTERL association, that is, renal dysplasia combined with prominent cartilaginous metaplasia, tetralogy of Fallot and VSD of the heart, hemidiaphragmatic eventration, and hyperdactylia.

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

    PubMed

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

    2009-10-01

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

  10. 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.

  11. Malignant transformation of oral epithelial dysplasia: clinicopathological risk factors and outcome analysis in a retrospective cohort of 138 cases.

    PubMed

    Liu, Wei; Bao, Zhe-Xuan; Shi, Lin-Jun; Tang, Guo-Yao; Zhou, Zeng-Tong

    2011-10-01

    To explore the usefulness of a new binary system of grading dysplasia proposed by the World Health Organization and to identify significant risk factors for malignant transformation in a long-term follow-up cohort of patients with oral epithelial dysplasia. A total of 138 patients with histologically confirmed oral dysplasia between 1978 and 2008 were reviewed retrospectively in our department. The mean follow-up period was 5.1 years. Of these dysplasias, 37 (26.8%) developed into cancer, with a mean duration of 4.6 years. Cox regression analysis revealed that high-grade dysplasia was an independent risk factor for transition, but age, gender, lesion site, diet habit, smoking and alcohol intake were not risk factors. High-grade dysplasia was associated with a 2.78-fold (95% confidence interval 1.44-5.38; P = 0.002) increased risk of transition, as compared with low-grade dysplasia. Consistently, high-grade dysplasia had a significantly higher incidence of malignancy than low-grade dysplasia by Kaplan-Meier analysis (log-rank test, P = 0.001). The utilization of high-grade dysplasia as a significant indicator for evaluating malignant transformation risk in patients with potentially malignant lesions is suggested; this may be helpful to guide treatment selection in clinical practice. 2011 Blackwell Publishing Limited.

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    Kamath, Atul F

    2016-05-18

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

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

    PubMed

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

    2013-12-01

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

  15. Upper cervical spine fusion in children with skeletal dysplasia.

    PubMed

    Pakkasjärvi, N; Mattila, M; Remes, V; Helenius, I

    2013-01-01

    Skeletal dysplasias have been associated with upper cervical instability. Many patients are initially asymptomatic, but the instability may progress to subluxation and dislocation and complications thereof, including death. Surgery is hampered by petite osseous structures and low bone formation rate. To review the outcomes of surgical fusion of upper cervical instability in children with rare skeletal dysplasias. A retrospective study of eight children with five different rare skeletal dysplasias needing upper cervical instrumented stabilization. Cases were evaluated for clinical, radiologic, and quality-of-life outcomes, with median follow-up time of 5 years. Six patients underwent posterior, segmental cervical spine instrumentation and fusion (three C1/C2 fusions, three occipitocervical fusions), one anterior cervical instrumented spinal fusion, and one anteroposterior fusion. Autogenous bone grafting was used in all patients, and seven were immobilized using a halo body jacket. Nonunion in occipitocervical fusions was common in these patients (3/8 patients). Rib autograft from occiput to cervical spine with recombinant human BMP-2 was used to salvage nonunions. Surgical fixation in the pediatric cervical spine is hampered by fragile posterior structures. A postoperative immobilization by halo vest for 4 months is customary. Selective anterior corpectomy and plate fixation is not recommended in pediatric patients with skeletal dysplasias. Level 4, Case Series.

  16. 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

  17. Fetal Skeletal Lethal Dysplasia: Case Report.

    PubMed

    Savoldi, Alexandre Mello; Villar, Maria Auxiliadora Monteiro; Machado, Heloisa Novaes; Llerena Júnior, Juan C

    2017-08-07

    The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of organizing clinical and laboratory investigations aiming toward the clinical management, prognosis, and etiological diagnosis of these malformations, as well as genetic counselling to patients who wish to become pregnant. Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil.

  18. Frontonasal dysplasia (Median cleft face syndrome)

    PubMed Central

    Sharma, Seema; Sharma, Vipin; Bothra, Meenakshi

    2012-01-01

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

  19. Osteosclerotic bone dysplasia (melorheostosis) of the mandible.

    PubMed

    Kuttenberger, J J; Hardt, N; Gebbers, J-O; Hofer, B

    2006-12-01

    Melorheostosis is a linear bone dysplasia of unknown origin that may be associated with soft-tissue alterations. Although any part of the skeleton can be affected, this condition is rarely observed in the craniofacial region. Only seven cases of melorheostosis with craniofacial involvement have been reported and cranial manifestation only is even rarer. To the authors' knowledge, manifestation in the mandible only has not yet been documented. A patient with isolated melorheostosis of the mandible with characteristic symptomatic bone pain is presented. The clinical, radiological and histological findings are described and possible therapeutic options are discussed.

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

    PubMed Central

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

    2012-01-01

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

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

    PubMed

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

    2002-12-02

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

  2. Do Ligamentum Teres Tears Portend Inferior Outcomes in Patients With Borderline Dysplasia Undergoing Hip Arthroscopic Surgery? A Match-Controlled Study With a Minimum 2-Year Follow-up.

    PubMed

    Chaharbakhshi, Edwin O; Perets, Itay; Ashberg, Lyall; Mu, Brian; Lenkeit, Christopher; Domb, Benjamin G

    2017-09-01

    Arthroscopic surgery in borderline dysplastic hips remains controversial, but the role of the ligamentum teres (LT) has not been studied in this setting. Borderline dysplastic patients with LT tears have worse short-term outcomes than those without LT tears. Cohort study; Level of evidence, 3. Data were prospectively collected on patients who underwent arthroscopic surgery between February 2008 and April 2014. The inclusion criteria were borderline dysplasia (lateral center-edge angle [LCEA], 18°-25°) and labral tears; arthroscopic treatments including labral preservation and capsular plication; and preoperative patient-reported outcome scores including the modified Harris Hip Score (mHHS), Non-Arthritic Hip Score (NAHS), Hip Outcome Score-Sport-Specific Subscale, and visual analog scale for pain. Patients were excluded for preoperative Tönnis osteoarthritis grade >0, workers' compensation claims, previous ipsilateral hip surgery and conditions, or frank dysplasia (LCEA <18°). Patients with LT tears were pair-matched to patients without tears for sex, age at surgery ±10 years, body mass index (<30 kg/m(2) vs ≥30 kg/m(2)), labral treatment type, and microfracture. Of 68 eligible patients, 63 (93%) had a minimum 2-year follow-up, and 30 (48%) had LT tears. Twenty patients in each group were pair-matched. The mean follow-up time was 54.3 months (range, 24.2-83.8 months) for the LT tear group and 38.6 months (range, 24.6-70.6 months) for the control group ( P = .002). Ninety percent were female. There were no significant differences regarding demographics or intra-operative procedures. The LT tear group trended toward lower postoperative mHHS ( P = .09) and NAHS ( P = .09) values. Mean satisfaction was 8.1 for the LT tear group and 7.9 for the control group. Preoperative and follow-up scores were not significantly different between the groups. The LT tear group had 5 revisions, with 1 revision in the control group. Three patients (15%) in the LT tear group

  3. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

    PubMed Central

    Krakow, Deborah; Lachman, Ralph S.; Rimoin, David L.

    2010-01-01

    The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomic for a specific disorder. However, differentiating known lethal disorders from nonlethal disorders, providing differential diagnoses before delivery, determining postdelivery management plans and ultimately determining accurate recurrences risks to the at-risk couples improves patient care. These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia. PMID:19265753

  4. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.

    PubMed

    Krakow, Deborah; Lachman, Ralph S; Rimoin, David L

    2009-02-01

    The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomic for a specific disorder. However, differentiating known lethal disorders from nonlethal disorders, providing differential diagnoses before delivery, determining postdelivery management plans and ultimately determining accurate recurrences risks to the at-risk couples improves patient care. These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia.

  5. [Radiofrequency ablation reduces the risk in Barrett's oesophagus with dysplasia].

    PubMed

    Achiam, Michael; Holm, Jakob; Svendsen, Lars Bo

    2014-01-06

    Barrett's esophagus (BE) with dysplasia is generally accepted as the precursor to oesophageal cancer. Thus, methods to eradicate BE and dysplasia have been evaluated. Recently, radiofrequency ablation (RFA) has shown promising results with few adverse effects. The studies concerning RFA are, however, small and heterogeneous. Only six studies have included more than 100 patients and only one is a prospective randomized trial. The purpose of this article is to describe the treatment of BE and especially the indications and challenges of RFA, including complications, buried glands and recurrence.

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

    PubMed

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

    2009-10-01

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

  7. Ectodermal Dysplasia with Anodontia: A Report of Two Cases

    PubMed Central

    Bani, Mehmet; Tezkirecioglu, Ali Melih; Akal, Nese; Tuzuner, Tamer

    2010-01-01

    Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Two case reports illustrating the prosthetic rehabilitation of 2 young boys with anhidrotic ectodermal dysplasia associated with severe anodontia are presented. Since the oral rehabilitation of these cases is often difficult; particularly in pediatric patients, treatment should be administered by a multidisciplinary team involving pediatric dentistry, orthodontics, prosthodontics and oral-maxillofacial surgery. PMID:20396456

  8. Dental Management of Ectodermal Dysplasia: Two Clinical Case Reports

    PubMed Central

    Hekmatfar, Somayeh; Jafari, Karim; Meshki, Raziyeh; Badakhsh, Samaneh

    2012-01-01

    Ectodermal dysplasia is a hereditary disorder associated with abnormal development of embryonic ectodermally-derived organs including teeth, nails, hair and sweat glands. Hypodontia of the primary and permanent dentition is the most com-mon oral finding. Therefore, affected patients need dental prosthetic treatments during their developmental years. This re-port presents two cases of children affected by ectodermal dysplasia with anodontia. Oral rehabilitation was accomplished with removable acrylic prostheses. Treatment had major impacts on self-esteem, masticatory function, speech and facial esthetic. PMID:22991648

  9. Metaphyseal dysplasia associated with chronic facial nerve palsy.

    PubMed

    Christodoulou, Loucas; Pavlidou, Efterpi; Spyridou, Cristina; Eccles, Simon; Calder, Alistair; Mankad, Kshitij; Kinali, Maria

    2016-07-01

    Metaphyseal dysplasia (Pyle disease) is a rare autosomal recessive disease with impressive and characteristic radiological findings but relatively mild clinical features. It is usually incidentally diagnosed, despite the impressive radiological findings of gross metaphyseal widening and thinning of cortical bone. Herein, we report an exceptionally unusual case of metaphyseal dysplasia in association with chronic facial nerve palsy. Chronic facial nerve palsy due to compression of the facial nerve in a patient with Pyle disease represents an unusual novelty. Furthermore, this case delineates the clinical spectrum and phenotype of such a rare clinical entity. To the best of our knowledge, this is the first time that such an association is being described.

  10. Advances in Skeletal Dysplasia Genetics.

    PubMed

    Geister, Krista A; Camper, Sally A

    2015-01-01

    Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorders, genetic causes of 56 skeletal disorders have been uncovered. This remarkable rate of discovery is largely due to the expanded use of high-throughput genomic technologies. In this review, we discuss these recent discoveries and our understanding of the molecular mechanisms behind these skeletal dysplasia phenotypes. We also cover potential therapies, unusual genetic mechanisms, and novel skeletal syndromes both with and without known genetic causes. The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design.

  11. Advances in Skeletal Dysplasia Genetics

    PubMed Central

    Geister, Krista A.; Camper, Sally A.

    2017-01-01

    Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorders, genetic causes of 56 skeletal disorders have been uncovered. This remarkable rate of discovery is largely due to the expanded use of high-throughput genomic technologies. In this review, we discuss these recent discoveries and our understanding of the molecular mechanisms behind these skeletal dysplasia phenotypes. We also cover potential therapies, unusual genetic mechanisms, and novel skeletal syndromes both with and without known genetic causes. The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design. PMID:25939055

  12. Epithelial dysplasia in oral cavity.

    PubMed

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

    2014-09-01

    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.

  13. Quantitative histopathological evaluation of vocal cord dysplasia with particular emphasis on nuclear orientation.

    PubMed

    Stenersen, T C; Boysen, M; Juhng, S W; Reith, A

    1992-06-01

    We have applied morphometry on formaldehyde-fixed, H & E-stained diagnostic laryngeal biopsies from 7 patients with mild dysplasia and 7 with severe dysplasia/carcinoma in situ, in search of objective parameters required for reproducible histopathological grading of epithelial dysplasias. Special emphasis has been put upon the individual nuclear polarity as a spatial variable. Also included were 4 specimens with normal epithelium. By means of a semiautomatic digitizing tablet, the nuclear and epithelial area, formfactor and the polarity variation between the longitudinal axes of adjacent nuclei were measured in the basal, parabasal, middle and luminal layers of the epithelium. N:C-ratio, mean values of nuclear area, formfactor or their coefficient of variation could not distinguish between mild and severe dysplasia. The variations in neighboring nuclear polarity, however, revealed a highly significant distinction between mild and severe dysplasia (p less than 0.001). This parameter may therefore have diagnostic potential.

  14. Elucidating drivers of oral epithelial dysplasia formation and malignant transformation to cancer using RNAseq

    PubMed Central

    Conway, Caroline; Graham, Jennifer L.; Chengot, Preetha; Daly, Catherine; Chalkley, Rebecca; Ross, Lisa; Droop, Alastair; Rabbitts, Pamela; Stead, Lucy F.

    2015-01-01

    Oral squamous cell carcinoma (OSCC) is a prevalent cancer with poor prognosis. Most OSCC progresses via a non-malignant stage called dysplasia. Effective treatment of dysplasia prior to potential malignant transformation is an unmet clinical need. To identify markers of early disease, we performed RNA sequencing of 19 matched HPV negative patient trios: normal oral mucosa, dysplasia and associated OSCC. We performed differential gene expression, principal component and correlated gene network analysis using these data. We found differences in the immune cell signatures present at different disease stages and were able to distinguish early events in pathogenesis, such as upregulation of many HOX genes, from later events, such as down-regulation of adherens junctions. We herein highlight novel coding and non-coding candidates for involvement in oral dysplasia development and malignant transformation, and speculate on how our findings may guide further translational research into the treatment of oral dysplasia. PMID:26515596

  15. Elucidating drivers of oral epithelial dysplasia formation and malignant transformation to cancer using RNAseq.

    PubMed

    Conway, Caroline; Graham, Jennifer L; Chengot, Preetha; Daly, Catherine; Chalkley, Rebecca; Ross, Lisa; Droop, Alastair; Rabbitts, Pamela; Stead, Lucy F

    2015-11-24

    Oral squamous cell carcinoma (OSCC) is a prevalent cancer with poor prognosis. Most OSCC progresses via a non-malignant stage called dysplasia. Effective treatment of dysplasia prior to potential malignant transformation is an unmet clinical need. To identify markers of early disease, we performed RNA sequencing of 19 matched HPV negative patient trios: normal oral mucosa, dysplasia and associated OSCC. We performed differential gene expression, principal component and correlated gene network analysis using these data. We found differences in the immune cell signatures present at different disease stages and were able to distinguish early events in pathogenesis, such as upregulation of many HOX genes, from later events, such as down-regulation of adherens junctions. We herein highlight novel coding and non-coding candidates for involvement in oral dysplasia development and malignant transformation, and speculate on how our findings may guide further translational research into the treatment of oral dysplasia.

  16. [Bronchopulmonary dysplasia: definitions and classifications].

    PubMed

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

    2013-10-01

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

  17. 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

  18. Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia

    PubMed Central

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

    2016-01-01

    We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD) with severe and chronic pain who was successfully treated with zoledronic acid (ZOL): a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population. PMID:27747122

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

    PubMed

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

    1971-06-01

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

  20. 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.

  1. 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.

  2. Activation of Wnt signalling promotes development of dysplasia in Barrett's oesophagus.

    PubMed

    Moyes, Lisa H; McEwan, Hamish; Radulescu, Sorina; Pawlikowski, Jeff; Lamm, Catherine G; Nixon, Colin; Sansom, Owen J; Going, James J; Fullarton, Grant M; Adams, Peter D

    2012-09-01

    Barrett's oesophagus is a precursor of oesophageal adenocarcinoma, via intestinal metaplasia and dysplasia. Risk of cancer increases substantially with dysplasia, particularly high-grade dysplasia. Thus, there is a clinical need to identify and treat patients with early-stage disease (metaplasia and low-grade dysplasia) that are at high risk of cancer. Activated Wnt signalling is critical for normal intestinal development and homeostasis, but less so for oesophageal development. Therefore, we asked whether abnormally increased Wnt signalling contributes to the development of Barrett's oesophagus (intestinal metaplasia) and/or dysplasia. Forty patients with Barrett's metaplasia, dysplasia or adenocarcinoma underwent endoscopy and biopsy. Mice with tamoxifen- and β-naphthoflavone-induced expression of activated β-catenin were used to up-regulate Wnt signalling in mouse oesophagus. Immunohistochemistry of β-catenin, Ki67, a panel of Wnt target genes, and markers of intestinal metaplasia was performed on human and mouse tissues. In human tissues, expression of nuclear activated β-catenin was found in dysplasia, particularly high grade. Barrett's metaplasia did not show high levels of activated β-catenin. Up-regulation of Ki67 and Wnt target genes was also mostly associated with high-grade dysplasia. Aberrant activation of Wnt signalling in mouse oesophagus caused marked tissue disorganization with features of dysplasia, but only selected molecular indicators of metaplasia. Based on these results in human tissues and a mouse model, we conclude that abnormal activation of Wnt signalling likely plays only a minor role in initiation of Barrett's metaplasia but a more critical role in progression to dysplasia. Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  3. Abduction bracing for residual acetabular dysplasia in infantile DDH.

    PubMed

    Gans, Itai; Flynn, John M; Sankar, Wudbhav N

    2013-01-01

    Abduction bracing is often used to treat residual acetabular dysplasia in infants whose acetabular indices (AI) exceed 30 degrees after 6 months of age. However, little data exist to support this practice. The purpose of this study was to determine the efficacy of part-time abduction bracing in treating residual acetabular dysplasia by comparing a cohort of braced infants with a cohort of unbraced infants. We performed a retrospective review of a consecutive series of patients with developmental dysplasia of the hip (DDH) treated at our institution over 4 years. Children with stable, treated DDH but residual acetabular dysplasia at 6 months of age were identified; those with available anteroposterior pelvic radiographs at 6 months and 1 year of age were included. Patients who required open surgical reduction and those with syndromic or neuromuscular diagnoses were excluded. On the basis of practice variations at our institution, some orthopaedists start bracing when the 6-month radiograph demonstrates an AI≥30 degrees, whereas others do not; we compared these 2 cohorts. Braced patients were instructed to wear an abduction orthosis during nights and naps until follow-up at 1 year of age. The AI at 6 months and 1 year of age for both cohorts were then measured by a single observer and the differences compared. Seventy-six hips in 52 patients were identified with residual dysplasia on the 6-month radiograph. Thirty-nine hips (27 patients) were unbraced, 31 hips (21 patients) were braced, and 6 hips (4 patients) were excluded for cross-over. Over a 6-month period, the braced cohort had significantly better improvement in the AI of 5.3 degrees (95% confidence interval, 4.3 to 6.3 degrees) compared to the unbraced cohort which had an improvement in the AI of only 1.1 degrees (95% confidence interval 0.6 to 1.6 degrees) (P<0.001). In this comparative analysis of infants with residual acetabular dysplasia treated with abduction bracing or observation, part-time bracing

  4. Outcome of epilepsy surgery in focal cortical dysplasia

    PubMed Central

    Kral, T; Clusmann, H; Blumcke, I; Fimmers, R; Ostertun, B; Kurthen, M; Schramm, J

    2003-01-01

    Objective: To describe the outcome of surgery in patients with drug resistant epilepsy and a histopathological diagnosis of focal cortical dysplasia. Methods and subjects: Analysis of histories and presurgical and follow up data was carried out in 53 patients with a histological diagnosis of focal cortical dysplasia. Their mean age was 24.0 years (range 5 to 46), and they included 14 children and adolescents. Mean age at seizure onset was 12.4 years (0.4 to 36) and mean seizure duration was 11.6 years (1 to 45). Results: The presurgical detection rate of focal cortical dysplasia with magnetic resonance imaging (MRI) was 96%. There were 24 temporal and 29 extratemporal resections; additional multiple subpial transections were done in 12 cases to prevent spread of seizure discharges. There was a 6% rate of complications with permanent neurological deficit, but no deaths. All resected specimens were classified by neuropathological criteria as focal cortical dysplasia. Balloon cells were seen in most cases of extratemporal focal cortical dysplasia. After a mean follow up of 50 months, 38 patients (72%) were seizure-free, two (4%) had less than two seizures a year, nine (17%) had a reduction of seizure frequency of more than 75%, and four (8%) had no improvement. Seizure outcome was similar after temporal and extratemporal surgery. The patients in need of multilobar surgery had the poorest outcome. Conclusions: Circumscribed lesionectomy of focal dysplastic lesions provides seizure relief in patients with chronic drug resistant temporal and extratemporal epilepsy. There was a trend for the best seizure outcome to be in patients with early presurgical evaluation and early surgery, and in whom lesions were identified on the preoperative MRI studies. PMID:12531945

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

    PubMed

    Carsi, M Belen; Clarke, Nicholas M P

    2016-05-01

    Avascular necrosis (AVN) and residual acetabular dysplasia are the two main complications of developmental dysplasia of the hip (DDH) treatment. Although early reduction of the hip may decrease the incidence of residual dysplasia, it may increase the incidence of AVN and vice versa. However, we do not know if changes in surgical technique may lead to a modification in these outcomes. Does an incomplete periacetabular acetabuloplasty, as an added step to delayed open reduction, (1) diminish the risk of developing acetabular dysplasia; or (2) increase the rate of AVN compared with patients treated with open reduction alone? We conducted a retrospective matched case-control study comparing 22 patients (27 hips) with early isolated DDH who underwent intentionally delayed open reduction and acetabuloplasty from 2004 to 2010 and followed up > 4 years (88% of the cohort) with early historic controls treated with delayed open reduction alone. Of 53 patients available for matching, 45 (85%) had enough followup (> 10 years) to be considered. They were matched one to one for age at presentation and bilaterality (fuzz 45, 0). This generated a control group of 25 patients (27 hips). The mean followup was different between the groups (p < 0.001). Residual dysplasia considered when center-edge angle < 15° (6-13 years old) or < 20° (≥ 14 years old) or as a nonevolving acetabular index > 30° and pelvic osteotomies were used as our primary outcomes. The proportion of patients with AVN was also compared. Patients treated with open reduction and an incomplete periacetabular acetabuloplasty were less likely to develop acetabular dysplasia and undergo pelvic osteotomies than were patients in the control group (0% [zero of 27] versus 37% [10 of 27]; odds ratio [OR], 11; 95% confidence interval [CI], 2-80; p = 0.02 and 0% [zero of 27] versus 26% [seven of 27]; OR, 8; 95% CI, 1-60; p = 0.025, respectively). With the available numbers, there was no difference in terms of the proportion

  6. 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.

  7. Should severe epithelial dysplasia be treated?

    PubMed

    Zhang, Lewei; Lubpairee, Tarinee; Laronde, Denise M; Rosin, Miriam P

    2016-09-01

    To identify clinical features associated with progression of primary severe epithelial dysplasia into invasive squamous cell carcinoma (SCC). Longitudinal population-based study. Oral dysplasia clinics. This study involved 118 patients with 118 severe dysplasia who were prospectively enrolled between 1996 and 2014, and the lesions were either completely removed surgically (treated) or actively followed (untreated). Demographics, habits, clinical information and outcome were compared between the treated and untreated groups. Of the 118 lesions, 77 were treated and 41 were not. The treated lesions showed significantly less progression when compared to the untreated: 5/77 (6%) treated lesions progressed into invasive SCC versus 12/41 (29%) untreated (P=0.004). The 5-year probability (confidence interval) of progression into SCC for the treated was 7.6 (1-14) as compared to 38.6 (16-55) for the untreated. Interestingly the clinical changes at the site of the disease also had strong predictive value for cancer progression. If the site showed no lesion after treatment or after incisional biopsy (40 cases), only 1 (3%) progressed into cancer. If the site showed ever disappearance of the lesion or marked decrease in the size of the lesion to ⩽10mm (29 cases), 4 (15%) progressed. If the site showed lesions with fluctuation in size or persistent in size or marked increase in size (25 cases), 18 (58%) progressed (P<0.001). Treatment significantly reduced cancer progression, and phenotypic changes at the site of the disease had significant predictive value for cancer progression. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Melorheostosis: a Rare Sclerosing Bone Dysplasia.

    PubMed

    Kotwal, Anupam; Clarke, Bart L

    2017-08-01

    Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series. Melorheostosis affects the appendicular skeleton more commonly than the axial skeleton and usually presents with lower limb deformity. Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing bone dysplasias. LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. The exact etiology of classic sporadically occurring melorheostosis remains unknown, with possible causes being somatic LEMD3 mutations, somatic mutations in the bone morphogenetic protein/transforming growth factor-beta pathway, mutations in multiple genes, or other non-genetic causes. Management in recent years has involved nitrogen-containing bisphosphonates in addition to traditional orthopedic surgical approaches and physical therapy. Melorheostosis may present as mixed or atypical osseous involvement in addition to the classically described "dripping candle wax" appearance of hyperostosis. Some patients may have overlap with osteopoikilosis or Buschke-Ollendorff syndrome. In the future, better characterization of genetic and developmental factors predisposing to melorheostosis may lead to the development of targeted therapy for this condition, as well as for more commonly encountered skeletal abnormalities.

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

    PubMed Central

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

    2017-01-01

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

  10. Intra-lesional stereo-EEG activity in Taylor 's focal cortical dysplasia.

    PubMed

    Francione, Stefano; Nobili, Lino; Cardinale, Francesco; Citterio, Alberto; Galli, Carlo; Tassi, Laura

    2003-09-01

    Focal cortical dysplasia are a frequent histological finding in epilepsy surgery series. Among the different types of focal cortical dysplasia, distinctive anatomical, electrical and clinical details have been identified for Taylor's focal cortical dysplasia, and in a recent article we reported a better post-surgical outcome in Taylor's focal cortical dysplasia than in other histological subtypes of cortical dysplasias. In the present study, we analysed the intra-lesional electrical activity directly recorded inside Taylor's focal cortical dysplasia during a stereo-EEG diagnostic procedure in 21 patients selected from among the 27 cases in which post-operative neuropathological examination demonstrated this kind of lesion. Our data show the existence of a peculiar interictal pattern characterised by the presence of repetitive and rhythmic spike and poly-spike and wave, frequently associated with short bursts of fusiform micro poly-spikes. Moreover, an almost pathognomonic ictal pattern (mid-amplitude 14-18 Hz rhythmic activity followed by a low voltage recruiting fast activity) is present in 12 of these 21 patients. These electrical peculiarities suggest a high level of epileptogenicity of Taylor's focal cortical dysplasia and could possibly explain the high percentage of post-surgical success among patients with this kind of lesion. Copyright John Libbey Eurotext 2003.

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

    PubMed Central

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

    2012-01-01

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

  12. Dysplasia epiphysealis hemimelica of the lower limb.

    PubMed

    Celıkyay, Ruken Yuksekkaya; Celikyay, Fatih; Bilgic, Erkal; Ascı, Murat; Koseoglu, Dogan

    2017-01-01

    Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder characterized by osteocartilaginous overgrowth in one or more epiphyses. The disease usually involves a single limb or is hemimelic (lateral or medial compartment), and lower extremities are more frequently affected than upper extremities. Here we present clinical and radiological findings for a male DEH patient at 1.5 and 3.5 years of age. The radiographs obtained at first presentation showed minimal osseous overgrowth and irregularity at the epiphyses around the left knee and ankle joints, respectively. Radiographs obtained at the second presentation showed osteocartilaginous masses at most epiphyses of the left lower extremity. Two months after diagnosis (at 3.7 years old), the patient had surgery on his left knee to relieve increased joint restriction. The histopathological diagnosis was consistent with an osteocartilaginous lesion. This case report presents imaging features and age-related progression of DEH in this patient.

  13. The clinical determinants of malignant transformation in oral epithelial dysplasia.

    PubMed

    Ho, M W; Risk, J M; Woolgar, J A; Field, E A; Field, J K; Steele, J C; Rajlawat, B P; Triantafyllou, A; Rogers, S N; Lowe, D; Shaw, R J

    2012-10-01

    While the size and clinical appearance are known risk factors for malignant transformation of potentially malignant oral the importance of site, grade of dysplasia and exposure to environmental carcinogens remains controversial. We aim to report the clinical determinants of malignant progression in a series of patients with histopathologically graded oral epithelial dysplasia (OED). We recruited patients with a histopathological diagnosis of OED to a longitudinal observational study in a tertiary oral dysplasia clinic. Clinical, histopathological and risk factor data were recorded at baseline. One of three clinical endpoints were determined: malignant transformation, progression of dysplasia grade, remission/stable dysplasia grade. Ninety-one patients meeting the criteria gave consent for inclusion to the cohort, with outcomes reported after a median follow up of 48 months. An estimated 22% (SE 6%) of patients underwent malignant transformation within 5 years, with significant predictors being: non-smoking status (χ(2)=15.1, p=0.001), site (χ(2)=15.3, p=0.002), non-homogeneous appearance (χ(2)=8.2, p=0.004), size of lesion >200 mm(2) (χ(2)=4.7, p=0.03) and, of borderline significance, high grade (χ(2)=5.8, p=0.06). Gender, age, number of lesions and alcohol history did not predict for malignant transformation. Although a number of these clinical determinants have previously been associated with higher malignant transformation in OED, the high-risk nature of lesions in non-smokers is of particular note and requires a greater emphasis and recognition amongst clinicians dealing with OED. It suggests that those non-smokers with OED, have an inherited or acquired predisposition and should be treated more aggressively; these should form the focus for further investigation. Copyright © 2012 Elsevier Ltd. All rights reserved.

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

    PubMed

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

    2012-01-01

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

  15. An extremely rare case: osteosclerotic metaphyseal dysplasia.

    PubMed

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

    2013-01-01

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

  16. Hemispheric dysplasia and hemimegalencephaly: imaging definitions.

    PubMed

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

    2014-11-01

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

  17. 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.

  18. 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.

  19. Apical involvement with fibrous dysplasia: implications for vision.

    PubMed

    Cruz, Antonio Augusto V; Constanzi, Marcio; de Castro, Flavia A Attié; dos Santos, Antonio Carlos

    2007-01-01

    To describe the ophthalmic findings of fibrous dysplasia of the orbit. Prospective case series. Twenty-one patients with fibrous dysplasia with orbital involvement underwent a complete ophthalmic examination and orbital imaging by CT. Four of the 21 patients had McCune-Albright syndrome and 1 had tuberous sclerosis. In 17 patients (81%), the disease was restricted to the craniofacial region. Facial distortion, proptosis, and eye dystopia were detected in 62% of the patients. Nasolacrimal duct obstruction and strabismus were detected in only 1 and 2 patients, respectively. Of the 34 orbits affected, the roof was affected in 67.6%. The floor was the least affected wall. For most orbits, the disease was seen in more than 1 wall, and in 9 orbits (26.5%) all 4 walls were involved. Twelve orbits (35.2%) showed cysts on CT within the affected bones. In 19 orbits (55.9%), the optic canal was circumferentially narrowed. Blindness was detected in only 1 patient who had undergone optic canal decompression. The main consequences of orbital involvement in fibrous dysplasia are eye dystopia and proptosis. Apical involvement is a common feature. Optic canal narrowing does not necessarily induce vision loss. We believe that patients with apical involvement should be carefully followed and have their apices decompressed only when their vision is clearly deteriorating. Our data do not support prophylactic optic canal decompression as a therapeutic measure.

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

    PubMed Central

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

    2014-01-01

    Developmental dysplasia of the hip (DDH) or congenital hip dysplasia (CDH) is the most prevalent developmental childhood hip disorder. It includes a wide spectrum of hip abnormalities ranging from dysplasia to subluxation and complete dislocation of the hip joint. The natural history of neglected DDH in adults is highly variable. The mean age of onset of symptoms is 34.5 years for dysplastic DDH, 32.5 years for low dislocation, 31.2 years for high dislocation with a false acetabulum, and 46.4 years for high dislocation without a false acetabulum. Thorough understanding of the bony and soft tissue deformities induced by dysplasia is crucial for the success of total hip arthroplasty. It is important to evaluate the existing acetabular deformity three-dimensionally, and customize the correction in accordance with the quantity and location of ace tabular deficiencies. Acetabular reconstruction in patients with DDH is challenging. Interpretation of published data is difficult and should be done with caution because most series include patients with different types of hip disease. In general, the complication rate associated with THA is higher in patients with hip dysplasia than it is in patients with osteoarthritis. Overall, clinical and functional outcomes following THA in patients hip dysplasia (DDH) differ from those treated for primary hip osteoarthritis, possibly due to the lower age and level of activity. Although function scores decline with age, the scores for pain and range of motion presented with a statistically significant improvement in the long-term. PMID:25386570

  1. Tooth Abnormalities and Occlusal Disorders in Individuals With Frontonasal Dysplasia.

    PubMed

    Dainezi, Vanessa Benetello; Neves, Lucimara Teixeira das; da Silva Dalben, Gisele; Gomide, Marcia Ribeiro

    2017-05-01

      Frontonasal dysplasia is a rare developmental defect of the midface, and little is known about the dental involvement in individuals with this condition. This study investigated tooth abnormalities and occlusal disorders in individuals with frontonasal dysplasia.   Cross-sectional.   Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.   Clinical oral examination, analysis of patient records, and panoramic radiographs.   A total of 20 individuals with frontonasal dysplasia aged 7 to 17 years.   Prevalence of the several tooth abnormalities and occlusal disorders analyzed.   A total of 19 individuals presented at least one tooth abnormality, with highly variable findings. In radiographs, 20% of individuals (all presenting oral clefts) presented agenesis of lateral incisors and second premolars. No supernumerary teeth were observed; 65% of individuals exhibited occlusal alterations, especially anterior open bite in the two individuals with median cleft lip.   Variable clinical and radiographic alterations were observed, probably due to the large variety of phenotypic characteristics. No specific dental alteration could be related with frontonasal dysplasia.

  2. 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

  3. Detection of colorectal dysplasia using fluorescently labelled lectins.

    PubMed

    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

    2016-04-13

    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 Apc(min) 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.

  4. Liver cell dysplasia and early liver transplantation in hereditary tyrosinemia.

    PubMed

    Manowski, Z; Silver, M M; Roberts, E A; Superina, R A; Phillips, M J

    1990-11-01

    Two cases of hereditary tyrosinemia presented with ascites and coagulopathy in infancy. Both patients underwent liver transplantation at the age of 25 and 36 mo, respectively. Both cases had normal liver function 37 and 24 mo later. The native liver in each case showed mixed micro- and macronodular cirrhosis with hepatocellular dysplasia, including both the large and small cell varieties. One of the subjects had also shown dysplasia in a prior liver biopsy. We compared the hepatic morphology with that from two other cases from our autopsy files. One of these (a female, 9 mo old) showed dysplasia, and the other (her male sibling, 4 yr old) had a liver cell carcinoma with lung metastases. These observations confirm prior reports that neoplastic transformation occurs early in the natural history of hereditary tyrosinemia despite meticulous dietary management and other supportive treatment. With the detection of liver cell dysplasia, efforts should be intensified to find an appropriate donor. Liver transplantation cures the hepatic disease and should be performed before malignancy develops.

  5. 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.

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

    PubMed

    Ratra, Atul; Wooldridge, Adam; Brindley, George

    2015-10-01

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

  7. 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

    2016-08-06

    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.

  8. 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

  9. Genetics Home Reference: CHST3-related skeletal dysplasia

    MedlinePlus

    ... Health Conditions CHST3-related skeletal dysplasia CHST3-related skeletal dysplasia Enable Javascript to view the expand/collapse ... PDF Open All Close All Description CHST3 -related skeletal dysplasia is a genetic condition characterized by bone ...

  10. 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

  11. Genetics Home Reference: multiple epiphyseal dysplasia

    MedlinePlus

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

  12. Renal dysplasia in Beagle dogs: four cases.

    PubMed

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

    2010-12-01

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

  13. Pelvic radiograph in skeletal dysplasias: An approach

    PubMed Central

    Jana, Manisha; Nair, Nikhil; Gupta, Arun K; Kabra, Madhulika; Gupta, Neerja

    2017-01-01

    The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed. PMID:28744080

  14. The surgical management of fibrous dysplasia of bone

    PubMed Central

    2012-01-01

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

  15. 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

  16. 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.

  17. Focal cemento-osseous dysplasia of mandible

    PubMed Central

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

    2012-01-01

    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. PMID:22948991

  18. Optic disc dysplasia in poland syndrome.

    PubMed

    Maxfield, Steven D; Strominger, Mitchell B

    2014-06-01

    To report optic disc dysplasia in a case of Poland syndrome. Non-interventional case report. A 2-year-old boy with Poland syndrome was referred for ophthalmic evaluation after abnormal optic discs were found on exam. Physical exam at birth revealed right-sided aplasia of the pectoralis major muscle, symbrachydactyly, hypoplastic scapula, and an abnormal third rib. On dilated examination the optic nerve heads were dysplastic. The findings included multiple cilioretinal vessels, situs inversus, inferotemporal excavation, and surrounding pigmentary disturbances. Only one case of optic disc anomaly has been reported in Poland syndrome and was described as morning glory syndrome. The optic discs in our patient do not fit well with other optic disc excavation syndromes but are most reminiscent of those in papillorenal syndrome. As both Poland syndrome and papillorenal syndrome share vascular dysfunction as a possible etiology, this case adds to the literature of vascular dysgenesis in Poland syndrome.

  19. 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

  20. 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

  1. Co-occurence of florid cemento-osseous dysplasia and simple bone cyst: a case report.

    PubMed

    Rao, Kumuda Arvind; Shetty, Shishir Ram; Babu, Subhas G; Castelino, Renita Lorina

    2011-01-01

    The purpose of this report is to present a rare case of co-occurrence of florid cemento-osseous dysplasia with simple bone cyst in a middle aged Asian woman. Most of the reported cases are isolated cases of simple bone cyst or florid cemento-osseous dysplasia, but co-occurrence of these two entities is extremely rare. The authors report a 41 year old female patient with co-occurrence of mandibular florid cemento-osseous dysplasia with simple bone cyst. A thorough clinical and radiological examination was carried out. It was diagnosed mandibular cyst with possible co-occurrence of florid cemento-osseous dysplasia. Surgical exploration of the multilocular lesion was applied. Since, the patient was symptomatic at the time of presentation utmost caution was taken during the surgical procedure as florid cemento-osseous dysplasia is associated with hypo-vascularity of the affected bone. Based on histopathological, as well as supporting clinico-radiological findings a confirmative diagnosis of florid cemento-osseous dysplasia co-occurring with simple bone cyst was made. Patient was followed-up for a period of six months and was reported to be asymptomatic. Timely diagnosis and well planned treatment is important to obtain a good prognosis when a rare co-occurrence of two or more bone lesions affects the jaws.

  2. Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management.

    PubMed

    Aurégan, Jean-Charles; Odent, Thierry; Coyle, Ryan M; Miladi, Lotfi; Wicart, Philippe; Dubousset, Jean; Le Merrer, Martine; Padovani, Jean-Paul; Glorion, Christophe

    2014-04-20

    A review of clinical publications, current knowledge, and recent developments regarding the etiology of ischiovertebral dysplasia was combined with a clinical review of the condition. To acquaint orthopedic spine surgeons with identification patterns of ischiovertebral dysplasia in order to provide them with guidelines about spine management and which complications to expect. Ischiovertebral dysplasia is a rare skeletal dysplasia that may appear in a sporadic fashion or be inherited with an autosomal dominant inheritance pattern. It is defined by the association of an ischiopubic ramus hypoplasia and a vertebral dysplasia. It leads to a specific spine deformity whose management and complications should be clarified. Thirty consecutive patients from 0 to 31 years of age with ischiovertebral dysplasia were included from 5 centers specialized in congenital spinal deformities. Frontal and sagittal Cobb angles before treatment, natural history of the curves, therapeutic options, and their complications were systematically analyzed. All the patients had a vertebral dysplasia and 28 of them developed a spinal deformity. This deformity was an extremely severe thoracic kyphoscoliosis in 25 cases. The other deformities were a thoracolumbar scoliosis in 1 case and a thoracolumbar kyphosis in 2 cases. The management of the thoracic kyphoscoliosis was always challenging and complications included death by respiratory failure (3 cases) and neurological impairment (9 cases). Recognizing the occurrence of ischioverterbral dysplasia is very important to allow for dedicated treatment. The authors advocate preoperative distraction and circumferential fusion to prevent progression of the curve and to avoid the potentially fatal sequelae associated with this disorder. 4.

  3. Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia.

    PubMed

    Nakahashi, Masumi; Sato, Noriko; Yagishita, Akira; Ota, Miho; Saito, Yoshiaki; Sugai, Kenji; Sasaki, Masayuki; Natsume, Jun; Tsushima, Yoshito; Amanuma, Makoto; Endo, Keigo

    2009-12-01

    Hemimegalencephaly is a well-known congenital malformation. However, localized megalencephaly, which may be one of the subtypes of hemimegalencephaly, has not been separately investigated. In the present study, we attempted to characterize the clinical and magnetic resonance (MR) imaging features of localized megalencephaly in comparison with ordinary diffuse hemimegalencephaly and multilobar cortical dysplasia. MR findings for 43 patients with hemimegalencephaly and ten with multilobar cortical dysplasia, which is the differential diagnosis of localized megalencephaly, were retrospectively reviewed. Clinical findings such as the onset and severity of seizures and imaging findings including the affected area of the brain, structures outside of the hemisphere, and interval morphological changes were examined. Of the 43 patients, 11 showed signs of localized megalencephaly (25.6%). Localized megalencephaly was predominantly seen on the left side (72.7%) and had a tendency toward severe-grade seizures compared to multilobar cortical dysplasia. The frequencies of the extracerebral abnormalities in the diffuse hemimegalencephaly, localized megalencephaly, and multilobar cortical dysplasia groups were 84.4%, 36.4%, and 0.0%, respectively. There were three localized megalencephaly patients whose affected areas shrank and whose images were similar to those of multilobar cortical dysplasia. Localized megalencephaly accounts for one quarter of all hemimegalencephaly cases in this study. The incidence of extracerebral abnormalities in patients with localized hemimegalencephaly was almost half that of patients with diffuse hemimegalencephaly. Extracerebral abnormalities were absent in patients with multilobar cortical dysplasia. Associated extracerebral abnormalities may be a clue to differentiating localized megalencephaly from multilobar cortical dysplasia.

  4. FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease.

    PubMed

    Laux, Daniela; Malan, Valérie; Bajolle, Fanny; Boudjemline, Younes; Amiel, Jeanne; Bonnet, Damien

    2013-10-01

    The objective was to report two new patients with the diagnosis of alveolar capillary dysplasia and congenital heart disease, to describe the associated cardiac defects seen in these cases and in the literature, and to consider recent genetic advances concerning the FOX transcription factor gene cluster in chromosome 16q24.1q24.2. We retrospectively analysed the records of all patients with congenital heart disease and alveolar capillary dysplasia seen in the Pediatric Cardiology Department between 2005 and 2010. We reviewed all literature published in the English language relating to cases of alveolar capillary dysplasia and congenital heart disease. Two infants with alveolar capillary dysplasia and cardiac malformation were identified: one had an atrioventricular septal defect and a de novo balanced reciprocal translocation t(1;16)(q32;q24), the second infant had a ventricular septal defect. Analysis of 31 cases of the literature including these new cases showed a predominant association of alveolar capillary dysplasia with obstructive left heart disease (35%), as well as an atrioventricular septal defect (29%). FOX gene cluster defects were identified in eight of these patients. Genetic background of alveolar capillary dysplasia is discussed in the light of the balanced reciprocal translocation t(1;16)(q32;q24) identified in the first child of this report. Alveolar capillary dysplasia should be suspected in neonates with congenital heart disease and unexpectedly elevated pulmonary vascular resistances, especially in cases of obstructive left heart disease or atrioventricular septal defect. Detecting FOX gene cluster defects should be considered in infants with alveolar capillary dysplasia with or without congenital heart disease.

  5. Monostotic fibrous dysplasia of the ribs.

    PubMed

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

    2012-01-01

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

  6. Spondyloepiphyseal dysplasia tarda in Turner syndrome.

    PubMed

    Massa, G; Vanderschueren-Lodeweyckx, M

    1989-11-01

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

  7. The Electrocardiographic Manifestations of Arrhythmogenic Right Ventricular Dysplasia

    PubMed Central

    Zhang, Li; Liu, Liwen; Kowey, Peter R; Fontaine, Guy H

    2014-01-01

    The ECG is abnormal in most patients with arrhythmogenic right ventricular dysplasia (ARVD). Right ventricular parietal block, reduced QRS amplitude, epsilon wave, T wave inversion in V1-3 and ventricular tachycardia in the morphology of left bundle branch block are the characteristic changes that reflect the underlying genetic predetermined pathology and pathoelectrophysiology. Recognizing the characteristic ECG changes in ARVD will be of help in making a correct diagnosis of this rare disease. PMID:24827798

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

    PubMed

    Slavkin, Harold C

    2009-09-01

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

  9. Prevalence of developmental dysplasia of the hip in children with clubfoot.

    PubMed

    Chou, Daud Ts; Ramachandran, Manoj

    2013-10-01

    The relationship between congenital talipes equinovarus (CTEV) and developmental dysplasia of the hip (DDH) remains uncertain. The role of routine hip screening in children with CTEV is debated. A recent study has found a high incidence of DDH in patients with CTEV. The aim of our study was to determine the true prevalence of radiographic hip dysplasia and identify the need for routine hip screening in patients treated for CTEV. From a single centre database of 165 children consisting of 260 CTEV, a prospective radiological prevalence study of 101 children was performed over a period of 3 months. A single anterior-posterior pelvic radiograph was performed at a minimum age of 5 months. The DDH was determined by a single senior investigator based on the age-adjusted acetabular index (AI) as described by Tonnis. There were no dislocations or subluxations. According to the age-adjusted AI, 16 children had 'light' dysplasia and one child had 'severe' dysplasia. The child with severe dysplasia was known to have DDH and had already undergone treatment. The 16 children with light dysplasia did not require any form of treatment. Out of one hundred and one children with CTEV, only one had DDH requiring treatment. This is consistent with the majority of the literature supporting the premise that there is no true association between CTEV and DDH. We, therefore, feel that routine hip screening for children with CTEV is not supported by current evidence and cannot be recommended.

  10. Focal cortical dysplasias in autism spectrum disorders

    PubMed Central

    2013-01-01

    Background Previous reports indicate the presence of histological abnormalities in the brains of individuals with autism spectrum disorders (ASD) suggestive of a dysplastic process. In this study we identified areas of abnormal cortical thinning within the cerebral cortex of ASD individuals and examined the same for neuronal morphometric abnormalities by using computerized image analysis. Results The study analyzed celloidin-embedded and Nissl-stained serial full coronal brain sections of 7 autistic (ADI-R diagnosed) and 7 age/sex-matched neurotypicals. Sections were scanned and manually segmented before implementing an algorithm using Laplace’s equation to measure cortical width. Identified areas were then subjected to analysis for neuronal morphometry. Results of our study indicate the presence within our ASD population of circumscribed foci of diminished cortical width that varied among affected individuals both in terms of location and overall size with the frontal lobes being particularly involved. Spatial statistic indicated a reduction in size of neurons within affected areas. Granulometry confirmed the presence of smaller pyramidal cells and suggested a concomitant reduction in the total number of interneurons. Conclusions The neuropathology is consistent with a diagnosis of focal cortical dysplasia (FCD). Results from the medical literature (e.g., heterotopias) and our own study suggest that the genesis of this cortical malformation seemingly resides in the heterochronic divisions of periventricular germinal cells. The end result is that during corticogenesis radially migrating neuroblasts (future pyramidal cells) are desynchronized in their development from those that follow a tangential route (interneurons). The possible presence of a pathological mechanism in common among different conditions expressing an autism-like phenotype argue in favor of considering ASD a “sequence” rather than a syndrome. Focal cortical dysplasias in ASD may serve to

  11. Tobacco smoke in infants with bronchopulmonary dysplasia.

    PubMed

    Martinez, Stéphanie; Garcia-Meric, Patricia; Millet, Véronique; Aymeric-Ponsonnet, Mellie; Alagha, Khuder; Dubus, Jean-Christophe

    2015-07-01

    Exposure to tobacco smoke has been not evaluated in children with bronchopulmonary dysplasia (BPD). We evaluate the association of in utero smoking (IUS) and environmental tobacco smoke (ETS) with the respiratory events of BPD and non-BPD children. Two hundred sixty-two children born before 35 weeks of gestational age (GA) and regularly followed up in our regional network for preterms were enrolled. They were paired according to their BPD status, their gestational age and birth weight (131 children with BPD and 131 without BPD, 28 mean weeks GA; mean weight 1000 g). Respiratory data were obtained prospectively during their first 2 years of life. A complementary questionnaire was completed by the parents about their child's respiratory health at the age of 2, their home environment, and tobacco status. IUS concerned 12.6 %; ETS, 48.8 % (67 % in BPD children treated with oxygen at home). No further influence on respiratory outcome could be found by exposure to intrauterine smoke or extrauterine tobacco smoke in this patient sample. IUS and ETS exposures are as high in preterm children as in a general pediatric population. The highest exposure occurs among BPD infants treated with oxygen at home. • Environmental tobacco smoke (ETS) and in utero smoking (IUS) are responsible for many morphological, functional, and clinical changes in children. • Children with bronchopulmonary dysplasia (BPD) have more respiratory events in their first years of life than preterm children without BPB, maybe triggered by ETS and IUS. What is New: • The exposition to ETS and IUS is high in preterm children with and without BDP, as high as in a general. • Pedaitric population, particularly in children with BPD and treated with oxygen at home. • No further influence on respiratory outcome could be found by exposure to ETS or IUS in our studied population.

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

    PubMed

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

    2007-01-01

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

  13. Intraoperative Arthrogram Predicts Residual Dysplasia after Successful Closed Reduction of DDH.

    PubMed

    Zhang, Zhong-Li; Fu, Zhe; Yang, Jian-Ping; Wang, Kan; Xie, Li-Wei; Deng, Shu-Zhen; Chen, Zhao-Qiang

    2016-08-01

    To determine the incidence of residual dysplasia after closed reduction (CR) of developmental dysplasia of the hip (DDH) and assess correlations between quality of arthrogram-guided CR and residual dysplasia using a new intraoperative radiographic criterion. Data of a consecutive series of 126 patients with DDH in 139 hips treated at our institution by arthrogram-guided CR from March 2006 to June 2013 were reviewed in this retrospective study. There were 23 boys and 103 girls with 88 affected left hips and 51 right hips. The average age at closed reduction was 14 months (range, 7-19 months) and average duration of follow-up 36 months (range, 24-100 months). Femoral head coverage (FHC) and arthrography type (A/B/C) on best reduced arthrographic images, acetabular index (AI) and Wiberg Center-Edge (CE) angle on anteroposterior (AP) pelvis radiograph at latest follow-up were measured. Residual hip dysplasia was determined according to the Harcke acetabular dysplasia radiographic standard. Patients were divided into non-late acetabular dysplasia (non-LACD) and late acetabular dysplasia (LACD) groups according to final results and age at reduction, sex and side compared between these two groups. Correlations between FHC and arthrography type and residual hip dysplasia were analyzed. Multiple logistic regression analysis was used to analyze sex, AI at CR, arthrography type and FHC with LACD. Receiver operating characteristic (ROC) curve analysis was used to determine the cutoff value for FHC. Forty-five of 139 hips (32.4%) had residual hip dysplasia. Avascular necrosis of the femoral head occurred in 11 hips (7.9%), nine of which had acetabular dysplasia. There were no significant differences between the two groups in age at reduction, sex or side. FHC differed significantly between the two groups (51.2% ± 15.3% vs . 28.5% ± 15.9%, t = 4.718, P = 0.000). A significantly greater percentage of the arthrography Type C group than Type A and B groups had LACD (χ(2) = 17

  14. Immunohistochemical staining patterns of cytokeratins 13, 14, and 17 in oral epithelial dysplasia including orthokeratotic dysplasia.

    PubMed

    Nobusawa, Aiko; Sano, Takaaki; Negishi, Akihide; Yokoo, Satoshi; Oyama, Tetsunari

    2014-01-01

    Diagnosis of the exact grade of oral epithelial dysplasia is difficult, and interobserver variations in grading are common. The aim of this study was to investigate the expression patterns of cytokeratins (CKs) in dysplastic oral epithelia, to identify useful double immunostaining diagnostic markers. Immunoexpression of CK13, CK14, CK17, and Ki-67 were investigated in 21 normal epithelial specimens and 146 epithelial dysplasia specimens. In epithelial dysplasia specimens, orthokeratotic dysplasia (OKD) was identified using CK10 immunostaining. Most mild dysplasia specimens were CK13+ and CK17-. In moderate dysplasia, CK13 expression tended to be lower and CK17 expression tended to be higher than in mild dysplasia. All carcinoma in situ (CIS) specimens were CK17+. In differentiated type CIS specimens, CK13 expression was weakly positive. Most epithelial dysplasia specimens were CK14+. There were no significant differences in the expression patterns of CKs between OKD and non-OKD specimens in any of the grades of dysplasia. These results indicate that CK14 expression can be used to detect early epithelial dysplasia, and that CK13 and CK17 expression are useful for detecting neoplastic changes. © 2014 The Authors. Pathology International © 2014 Japanese Society of Pathology and Wiley Publishing Asia Pty Ltd.

  15. 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

  16. Metatropic Dysplasia with a Novel Mutation in TRPV4.

    PubMed

    Narayanan, Dhanya Lakshmi; Bhavani, Gandham SriLakshmi; Girisha, Katta Mohan; Phadke, Shubha R

    2016-08-08

    Metatropic dysplasia is a skeletal dysplasia characterized by rhizomelia, severe kyphoscoliosis and a coccygeal tail. A 12 day-old male neonate had facial dysmorphism, short limbs and coccygeal tail and showed radiological features of metatropic dysplasia. A novel heterozygous variant was observed in TRPV4 gene. We report a novel mutation in an Indian neonate with metatropic dysplasia.

  17. Fibrous Dysplasia in the Epiphysis of the Distal Femur

    PubMed Central

    Noh, Jung Ho; Lee, Jae Woo

    2017-01-01

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

  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. Dental Anomalies Associated with Craniometaphyseal Dysplasia

    PubMed Central

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

    2014-01-01

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

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

    PubMed

    Koçak, H; Ceylaner, G

    2009-01-01

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

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

    PubMed

    Fry, T R; Clark, D M

    1992-05-01

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

  2. The different appearance of the oculodentodigital dysplasia syndrome.

    PubMed

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

    1998-01-01

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

  3. Midbrain-hindbrain involvement in septo-optic dysplasia.

    PubMed

    Severino, M; Allegri, A E M; Pistorio, A; Roviglione, B; Di Iorgi, N; Maghnie, M; Rossi, A

    2014-08-01

    Midbrain-hindbrain involvement in septo-optic dysplasia has not been well described, despite reported mutations of genes regulating brain stem patterning. We aimed to describe midbrain-hindbrain involvement in patients with septo-optic dysplasia and to identify possible clinical-neuroimaging correlations. Using MR imaging, we categorized 38 patients (21 males) based on the presence (group A, 21 patients) or absence (group B, 17 patients) of visible brain stem anomalies. We measured height and anteroposterior diameter of midbrain, pons, and medulla, anteroposterior midbrain/pons diameter (M/P ratio), vermian height, and tegmento-vermian angle, and compared the results with 114 healthy age-matched controls. Furthermore, patients were subdivided based on the type of midline anomalies. The associations between clinical and neuroradiological features were investigated. Post hoc tests were corrected according to Bonferroni adjustment (pB). Patients with brain stem abnormalities had smaller anteroposterior pons diameter than controls (pB < .0001) and group B (pB = .012), higher M/P ratio than controls (pB < .0001) and group B (pB < .0001), and smaller anteroposterior medulla diameter (pB = .001), pontine height (pB = .00072), and vermian height (pB = .0009) than controls. Six of 21 patients in group A had thickened quadrigeminal plate, aqueductal stenosis, and hydrocephalus; 3 also had agenesis of the epithalamus. One patient had a short midbrain with long pons and large superior vermis. There was a statistically significant association between brain stem abnormalities and callosal dysgenesis (P = .011) and developmental delay (P = .035), respectively. Midbrain-hindbrain abnormalities are a significant, albeit underrecognized, component of the septo-optic dysplasia spectrum, and are significantly associated with developmental delay in affected patients. © 2014 by American Journal of Neuroradiology.

  4. Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia.

    PubMed

    Harrison, Shannon; Sinclair, Rodney

    2004-05-01

    We report a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl. Clinical examination revealed short, sparse scalp hair, absent eyebrows, short eyelashes and nail dystrophy in all digits. Nail changes included shortened nail plate with distal onycholysis and loss of the cuticle. Sweating and teeth were normal. Development was normal. Scanning electron microscopy of the hair only demonstrated trichorrhexis nodosa. There was no pili torti. Vertically sectioned scalp biopsy revealed hypoplastic hair follicles and a horizontally sectioned biopsy showed a decrease in the overall number of hair follicles present. Treatment with topical minoxidil 5% 1 mL twice each day massaged into the scalp led to only minimal improvement and was discontinued after 12 months.

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

    PubMed

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

    2014-06-01

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

  6. Effect of proton pump inhibitors on markers of risk for high-grade dysplasia and oesophageal cancer in Barrett's oesophagus.

    PubMed

    Hillman, L C; Chiragakis, L; Shadbolt, B; Kaye, G L; Clarke, A C

    2008-02-15

    It has been shown that the presence on diagnosis of endoscopic macroscopic markers indicates a high-risk group for Barrett's oesophagus. To determine whether proton pump inhibitor therapy prior to diagnosis of Barrett's oesophagus influences markers for risk development of subsequent high-grade dysplasia/adenocarcinoma. A review of all patients with Barrett's oesophagus entering a surveillance programme was undertaken. Five hundred and two patients diagnosed with Barrett's oesophagus were assessed on diagnosis for endoscopic macroscopic markers or low-grade dysplasia. Subsequent development of high-grade dysplasia/adenocarcinoma was documented. The relationship between the initiation of proton pump inhibitor therapy prior to the diagnosis of BE and the presence of macroscopic markers or low-grade dysplasia at entry was determined. Fourteen patients developed high-grade dysplasia/adenocarcinoma during surveillance. Patients who entered without prior proton pump inhibitor therapy were 3.4 times (95% CI: 1.98-5.85) more likely to have a macroscopic marker or low-grade dysplasia than those patients already on a proton pump inhibitor. Use of proton pump inhibitor therapy prior to diagnosis of Barrett's oesophagus significantly reduced the presence of markers used to stratify patient risk. Widespread use of proton pump inhibitors will confound surveillance strategies for patients with Barrett's oesophagus based on entry characteristics but is justified because of the lower risk of neoplastic progression.

  7. Decompression of the inferior alveolar nerve to treat the pain of the mandible caused by fibrous dysplasia-case report

    PubMed Central

    Wei, Wen-Bin; Chen, Min-Jie; Yang, Chi; Zhang, Wenhao; Wang, Yiwen

    2015-01-01

    Fibrous dysplasia is a kind of benign bone lesion characterized by the manifestation of the replacement of the normal substance of bone by fibro-osseous connective tissue. A patient diagnosed fibrous dysplasia had unbearable pain in the left mandibular region only. To treat the patient, an navigation template was designed to guide the decompression of inferior alveolar nerve, and piezosurgery was performed to do the osteotomy. After the surgery, the pain disappeared. The sensation of the lower lip recovered. PMID:26770606

  8. Headache Attributed to Fibrous Dysplasia of the Ethmoid Bone Mimicking Menstrual Migraine Without Aura.

    PubMed

    Kim, Kyung Soo

    2016-06-01

    The authors experienced a patient of fibrous dysplasia originating from the ethmoid bone which presented with severe headache with some features suggestive of menstrual migraine without aura. Fibrous dysplasia originating from the ethmoid bone is a rare disease entity, but may cause severe headache that can be misdiagnosed as "menstrual migraine" because of similar symptoms in female patients. Because the primary objective of surgery is symptomatic relief, conservative transnasal endoscopic approach may be considered an alternative to more invasive external surgical techniques in carefully selected patients, especially originating from the nasal cavity and paranasal sinuses.

  9. Hypoxic Episodes in Bronchopulmonary Dysplasia

    PubMed Central

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

    2015-01-01

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

  10. Genetic Predisposition to Bronchopulmonary Dysplasia

    PubMed Central

    Vivek Lal, Charitharth; Ambalavanan, Namasivayam

    2015-01-01

    Objective To review the candidate gene and genome-wide association studies relevant to bronchopulmonary dysplasia, and discuss the emerging understanding of the complexities involved in genetic predisposition to bronchopulmonary dysplasia and its outcomes. Findings Genetic factors contribute much of the variance in risk for BPD. Studies to date evaluating single or a few candidate genes have not been successful in yielding results that are replicated in GWAS, perhaps due to more stringent p-value thresholds. GWAS studies have identified only a single gene (SPOCK2) at genome-wide significance in a European White and African cohort, which was not replicated in two North American studies. Pathway gene set analysis in a North American cohort confirmed involvement of known pathways of lung development and repair (e.g. CD44, phosphorus oxygen lyase activity) and indicated novel molecules and pathways (e.g. adenosine deaminase, targets of miR-219) involved in genetic predisposition to BPD. The genetic basis of severe BPD is different from that of mild/moderate BPD, and the variants/pathways associated with BPD vary by race/ethnicity. A pilot study of whole exome sequencing identified hundreds of genes of interest, and indicated the overall feasibility as well as complexity of this approach. Conclusion Better phenotyping of BPD by severity and pathophysiology, and careful analysis of race/ethnicity is required to gain a better understanding of the genetic basis of BPD. Future translational studies are required for the identification of potential genetic predispositions (rare variants and dysregulated pathways) by next generation sequencing methods in individual infants (personalized genomics). PMID:26471063

  11. 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.

  12. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.

    PubMed

    van Roij, Mirjam H H; Mizumoto, Shuji; Yamada, Shuhei; Morgan, Tim; Tan-Sindhunata, M B; Meijers-Heijboer, H; Verbeke, J I L M; Markie, David; Sugahara, Kazuyuki; Robertson, Stephen P

    2008-09-15

    Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related families from the Republic of Oman. The phenotype consists of short stature, severe kyphoscoliosis, arthritic joints (elbows, wrists, knees), secondary large joint dislocations, rhizomelia, fusion of carpal bones and mild brachydactyly. Affected individuals were homozygous for a missense mutation, R304Q in CHST3 that encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1). This enzyme mediates the sulfation of proteoglycans, particularly chondroitin sulfate (CS), in the extracellular matrix of cartilage. Here we describe the identification of a mutation (857T > C predicting the substitution L286P) in CHST3 in a Turkish family and extend the clinical phenotype of SED-Omani type to include congenital joint dislocation, club feet, ventricular septal defect, deafness, metacarpal shortening and accessory carpal ossification centers. Fibroblasts and urine obtained from affected patients demonstrated negligible levels of 6-O-sulfated GalNAc residue in CS. Furthermore, the 6-O-sulfotransferase activity of cloned C6ST-1 into which the L286P mutation had been introduced was dramatically reduced, confirming the pathogenicity of this substitution. These results indicate that the clinical consequences of a deficiency of 6-O-sulfation in CS can be varied and that a clinical spectrum may exist similar to that seen in other skeletal dysplasias characterized by disorders of proteoglycan sulfation. Copyright 2008 Wiley-Liss, Inc.

  13. Genetics Home Reference: hypohidrotic ectodermal dysplasia

    MedlinePlus

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

  14. 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 ...

  15. Total hip arthroplasty without femoral osteotomy in patients who had high and low dislocation due to developmental dysplasia of the hip.

    PubMed

    Kiyak, Gorkem; Bezer, Murat; Ketenci, Ismail E; Topkar, Osman M

    2016-01-01

    Various surgical techniques and outcome results have been reported after primary total hip arthroplasty for the treatment of patients dysplastic hips. Low failure and complication rates have been reported when the acetabular component has been placed in the true acetabulum. The current study reports the results of primary total hip arthroplasty in patients with high and low dislocation for whom the acetabular component was placed in the true acetabulum without femoral or trochanteric osteotomy. 26 primary total hip replacements were performed on 22 patients. The mean duration of follow-up was 8.9 years.There were 4 men and 18 women. 17 hips were classified as type B (low dislocation) and 9 as type C (high dislocation), according to the classification system of Hartofilakidis et al. Acetabular components were placed in the true acetabulum without osteotomy for all patients. At the time of final follow-up (mean 8.9 years) the average Harris Hip Score was 85 points. Femoral head autograft was used in 9 hips to supplement acetabular coverage. In 8 patient linear calcar fracture. 7 fixed with Dall-Mile cable and 1 fixed with a side plate. On radiologic evaluation, 2 incidents of asymptomatic osteolysis, 1 of acetabular loosening, 1 graft resorption, and 1 impingement (correlated with physical examination) were identified. 2 patients had neuropraxia and were treated medically. There were no early or late infections. Only 1 patient with acetabular loosening required revision surgery. Although it is surgically difficult to place the acetabular component in the true acetabulum without femoral or trochanteric osteotomy, at the final follow-up we report favourable results. Long-term follow-up is needed to verify our results.

  16. Does radiographic coxa profunda indicate increased acetabular coverage or depth in hip dysplasia?

    PubMed

    Fujii, Masanori; Nakamura, Tetsuro; Hara, Toshihiko; Nakashima, Yasuharu; Iwamoto, Yukihide

    2015-06-01

    Although radiographic coxa profunda has been considered an indicator of acetabular overcoverage, recent studies suggest that radiographic coxa profunda is a nonspecific finding seen even in hip dysplasia. The morphologic features of coxa profunda in hip dysplasia and the frequency with which the two overlap are not well defined. We determined (1) the prevalence of radiographic coxa profunda in patients with hip dysplasia; (2) the morphologic differences of the acetabulum and pelvis between patients with hip dysplasia and control subjects; and (3) the morphologic differences between hip dysplasia with and without coxa profunda. We retrospectively reviewed the pelvic radiographs and CT scans of 70 patients (70 hips) with hip dysplasia. Forty normal hips were used as controls. Normal hips were defined as those with a lateral center-edge angle between 25° and 40°. Coxa profunda was defined as present when the acetabular fossa was observed to touch or was medial to the ilioischial line on an AP pelvic radiograph. CT measurements included acetabular version, acetabular coverage, acetabular depth, and rotational alignment of the innominate bone. The prevalence of coxa profunda was 44% (31 of 70 hips) in dysplastic hips and 73% (29 of 40 hips) in the control hips (odds ratio, 3.32; 95% CI, 1.43-7.68). Dysplastic hips had a more anteverted and globally shallow acetabulum with inwardly rotated innominate bone compared with the control hips (p < 0.001). Dysplastic hips with coxa profunda had a more anteverted acetabulum (p < 0.001) and inwardly rotated innominate bone (p < 0.002) compared with those without coxa profunda, whereas the acetabular coverage and depth did not differ between the two groups, with the numbers available. Radiographic coxa profunda was not a sign of increased acetabular coverage and depth in patients with hip dysplasia, but rather indicates classic acetabular dysplasia, defined by an anteverted acetabulum with anterolateral acetabular

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

    PubMed

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

    2009-01-01

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

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

    PubMed

    Gales, Jordan; Prayson, Richard A

    2017-03-01

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

  19. Frontonasal dysplasia associated with tetralogy of Fallot.

    PubMed Central

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

    1987-01-01

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

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

    PubMed

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

    2007-01-01

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

  1. 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.

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-04-01

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

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

    PubMed

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

    2015-07-01

    Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process. © 2015 Japanese Dermatological Association.

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2017-01-01

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

  7. Effect of tobacco, alcohol, and smoking habits in oral precancer with histological proven epithelial dysplasia.

    PubMed

    Nayak, Seema; Chandra, Saumya; Mehrotra, Divya; Kumar, Sumit; Agrawal, S P; Kumar, Sandeep; Goel, Madhu Mati

    2012-01-01

    To assess the effect of risk factors tobacco, alcohol, and smoking habits in oral precancer patients with epithelial dysplasia status. The study sample included biopsy proven cases of 29 oral submucous fibrosis (OSMF) and 43 cases of clinical leukoplakia. Histopathological diagnosis was made from formalin fixed paraffin embedded tissues as per WHO criteria. The relevant clinical and demographic details were recorded after interviewing the patients. Risk for tobacco, alcohol and smoking was determined by logistic regression analysis by SPSS software. Presence of epithelial dysplasia was significantly associated with tobacco in OSMF & both tobacco and smoking habits in leukoplakia. In OSMF tobacco was associated with 14.16-fold (95% CI, 1.36-147.07; p < 0.026) and in leukoplakia tobacco was associated with 4.66-fold (95% CI, 1.00-21.63; p < 0.047) and smoking was associated with 9.20-fold (95% CI, 1.65-51.28; p < 0.011) increased risk of epithelial dysplasia. Tobacco consumption was independent risk factor for epithelial dysplasia in OSMF and both tobacco and cigarette smoking were independent factors for epithelial dysplasia in leukoplakia.

  8. Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review

    PubMed Central

    Piróg, Katarzyna A.; Briggs, Michael D.

    2010-01-01

    Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton. However, in some cases skeletal dysplasia patients are referred to neuromuscular clinics prior to the correct skeletal diagnosis. The muscular complications seen in these cases are usually mild and may stem directly from the muscle defect and/or from the altered interactions between the individual components of the musculoskeletal system. A correct early diagnosis may enable better management of the patients and a better quality of life. This paper attempts to summarise the different components of the musculoskeletal system which are affected in skeletal dysplasias and lists several interesting examples of such diseases in order to enable better understanding of the complexity of human musculoskeletal system. PMID:20508815

  9. Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia.

    PubMed

    Rossi, A; Miraglia, E; Fortuna, M C; Calvieri, S; Giustini, S

    2017-02-01

    Ectodermal dysplasia is a clinically and genetically heterogeneous group of inherited disorders characterized by abnormal development of two or more of the following ectodermal-derived structures: hair, teeth, nails and sweat glands. The hair is the most frequently affected structure. Hair shaft abnormalities are of great concern to these patients, but no effective treatments are available. We describe three girls with congenital hypotrichosis (9, 5 and 6 years old) caused by ectodermal dysplasia treated with topical cetirizine solution (2 mL. once daily) and oral vitamin D supplementation (1000 IU daily). After 6 months of treatment, the density of hair on the scalp increased in all patients. The vellus hair was replaced by terminal hair. Hair regrowth was evaluated both from the clinical and trichoscopic point of view. We propose a combination of topical cetirizine and oral vitamin D as a rational treatment of choice in congenital hypotrichosis caused by ectodermal dysplasia. © 2016 European Academy of Dermatology and Venereology.

  10. 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.

  11. Concurrent Cemento-Osseous Dysplasia and Osteogenic Sarcoma: Report of Two Cases

    PubMed Central

    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. PMID:22474452

  12. 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.

  13. Pathogenetic mechanisms of focal cortical dysplasia.

    PubMed

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

    2014-07-01

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

  14. 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.

  15. Septooptic Dysplasia with an Associated Arachnoid Cyst

    PubMed Central

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

    2016-01-01

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

  16. HPV immunohistochemical testing and cervical dysplasia.

    PubMed

    Mureşan, Daniel; Rotar, Ioana Cristina; Apostol, Silvana; Coroiu, Georgiana; Stamatian, Florin

    2016-01-01

    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). 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. 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. 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 sustains the idea of introducing HPV testing as a

  17. Early Inhaled Budesonide for the Prevention of Bronchopulmonary Dysplasia.

    PubMed

    Bassler, Dirk; Plavka, Richard; Shinwell, Eric S; Hallman, Mikko; Jarreau, Pierre-Henri; Carnielli, Virgilio; Van den Anker, Johannes N; Meisner, Christoph; Engel, Corinna; Schwab, Matthias; Halliday, Henry L; Poets, Christian F

    2015-10-15

    Systemic glucocorticoids reduce the incidence of bronchopulmonary dysplasia among extremely preterm infants, but they may compromise brain development. The effects of inhaled glucocorticoids on outcomes in these infants are unclear. We randomly assigned 863 infants (gestational age, 23 weeks 0 days to 27 weeks 6 days) to early (within 24 hours after birth) inhaled budesonide or placebo until they no longer required oxygen and positive-pressure support or until they reached a postmenstrual age of 32 weeks 0 days. The primary outcome was death or bronchopulmonary dysplasia, confirmed by means of standardized oxygen-saturation monitoring, at a postmenstrual age of 36 weeks. A total of 175 of 437 infants assigned to budesonide for whom adequate data were available (40.0%), as compared with 194 of 419 infants assigned to placebo for whom adequate data were available (46.3%), died or had bronchopulmonary dysplasia (relative risk, stratified according to gestational age, 0.86; 95% confidence interval [CI], 0.75 to 1.00; P=0.05). The incidence of bronchopulmonary dysplasia was 27.8% in the budesonide group versus 38.0% in the placebo group (relative risk, stratified according to gestational age, 0.74; 95% CI, 0.60 to 0.91; P=0.004); death occurred in 16.9% and 13.6% of the patients, respectively (relative risk, stratified according to gestational age, 1.24; 95% CI, 0.91 to 1.69; P=0.17). The proportion of infants who required surgical closure of a patent ductus arteriosus was lower in the budesonide group than in the placebo group (relative risk, stratified according to gestational age, 0.55; 95% CI, 0.36 to 0.83; P=0.004), as was the proportion of infants who required reintubation (relative risk, stratified according to gestational age, 0.58; 95% CI, 0.35 to 0.96; P=0.03). Rates of other neonatal illnesses and adverse events were similar in the two groups. Among extremely preterm infants, the incidence of bronchopulmonary dysplasia was lower among those who received early

  18. Study of three-dimensional morphology of the proximal femur in developmental adult dysplasia of the hip suggests that the on-shelf modular prosthesis may not be an ideal choice for patients with Crowe type IV hips.

    PubMed

    Liu, Shuanglu; Zuo, Jianlin; Li, Zhizhou; Yang, Yuhui; Liu, Tong; Xiao, Jianlin; Gao, Zhongli

    2017-04-01

    The purpose of this study was to investigate the three-dimensional morphological features of the proximal femur of developmental dysplasia of the hip (DDH). From January 2012 to December 2014, 38 patients (47 hips) of DDH were admitted and 30 normal hips were selected as controls. All hips from both groups were examined by CT scan. CT data were imported into Mimics 17.0. Three-dimensional models of the proximal femur were then reconstructed, and the following parameters were measured: neck-shaft angle, neck length, offset, height of the centre of femoral head, level of isthmus, height of the tip of greater trochanter, the medullary canal diameter of isthmus(Di), the medullary canal diameter 10 mm above the apex of the lesser trochanter(DT + 10), the medullary canal diameter 20 mm below the apex of the lesser trochanter(DT-20), and then DT + 10/Di, DT-20/Di and DT + 10/DT-20 were calculated. There was no significant difference in neck-shaft angle between Crowe I, Crowe II-III DDH and the control group, while the neck-shaft angle was much smaller in Crowe IV DDH. The neck length of Crowe IV DDH was also much smaller than those of Crowe I and Crowe II-III DDH. Height of the tip greater trochanter in Crowe IV was greater than that in Crowe I, Crowe II-III DDH and the control group. The centre of femoral head in Crowe IV DDH was lower than those in Crowe I, Crowe II-III DDH and the control group. The level of isthmus in Crowe IV was much higher than those in Crowe I, Crowe II-III DDH and the control group. DT + 10, DT-20, DT + 10/Di and DT-20/Di were much smaller in Crowe IV DDH than those in Crowe I, Crowe II-III and the control group. Neck-shaft angle in the DDH groups was not larger than that in the control group. Comparing to Crowe I, Crowe II-III DDH and the control group, Crowe IV DDH had a dramatic change in the intramedullary and extramedullary parameters, especially the dramatic narrowing of medullary canal around the level of the lesser

  19. 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

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

    PubMed

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

    1996-08-02

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

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

    PubMed

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

    2014-01-01

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

  2. 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.

  3. Biliary dysplasia, cell proliferation and nuclear DNA-fragmentation in primary sclerosing cholangitis with and without cholangiocarcinoma.

    PubMed

    Bergquist, A; Glaumann, H; Stål, P; Wang, G S; Broomé, U

    2001-01-01

    To study the extent of biliary dysplasia, and the degree of cell proliferation and apoptosis in bile duct cells (BDC) from patients with primary sclerosing cholangitis (PSC), with and without cholangiocarcinoma (CC). Specimens of liver tissue from 16 patients suffering from PSC and CC, and 16 patients with end-stage PSC without cancer, were investigated. Histological evaluation of presence of biliary dysplasia and bile duct proliferation was made. Immunohistochemistry, applying antibodies against Ki-67, p53 and bcl-2, was used. Nuclear DNA fragmentation was assessed by in situ DNA labelling (ApopTag). The numbers of positive cells expressed as a percentage of the total number of BDCs constituted the labelling index (LI). Bile duct dysplasia was significantly more frequent in nontumorous liver tissue from patients with PSC and CC than from patients having end-stage PSC without cancer (P < 0.05). Patients with biliary dysplasia had a higher frequency of marked bile duct proliferation (P < 0.01) than patients without dysplasia. In tumour tissue, the LI for Ki-67 positive nuclei was more than four times the LI of nuclear DNA fragmentation (P < 0.01). Ki-67, bcl-2, p53 or DNA fragmentation were not significantly different in nontumorous liver tissue from patients with and without CC. Immunohistochemical staining for p53 was positive in 75% of the tumours, whilst in nontumorous tissue no such overexpression was found. PSC patients with CC more often display biliary dysplasia than those with end-stage PSC, indicating that biliary dysplasia may be a precancerous stage in PSC. Additionally, p53 mutation seems to be a late event in tumour development, since no p53 expression was found in the premalignant areas with nontumorous BDC.

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

    SciTech Connect

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

    1994-09-01

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

  5. Arrhythmogenic right ventricular dysplasia: Atypical clinical presentation.

    PubMed

    Marçalo, José; Menezes Falcão, Luiz

    2017-03-01

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

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

    PubMed

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

    2009-04-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2011-12-01

    SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). The Arg279Trp mutation was present in all patients, either in homozygosity (resulting in rMED) or in compound heterozygosity with the known severe alleles Arg178Ter or Asn425Asp (resulting in DTD) or with the mutation c.727-1G>C (causing mDTD). The 'Finnish mutation', c.-26+2T>C, and the p.Cys653Ser, both frequent mutations in non-Portuguese populations, were not identified in any of the patients of our cohort and are probably very rare in the Portuguese population. A targeted mutation analysis for p.Arg279Trp and p.Arg178Ter in the Portuguese population allows the identification of approximately 90% of the pathogenic alleles. © 2010 John Wiley & Sons A/S.

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

    PubMed Central

    Murphy, Megan; Gandhi, Kunjal; Infantolino, Anthony

    2016-01-01

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

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

    PubMed

    Leithauser, Laurel A; Mutasim, Diya F

    2012-04-01

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

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

    PubMed

    Murphy, Geoff; Bartle, Sam

    2006-07-01

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

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

    PubMed

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

    2017-07-01

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

  13. Endoscopic fluorescence imaging of cathepsin activity can discriminate, dysplasia from colitis

    PubMed Central

    Elias, Gounaris; John, Martin; Yasushige, Ishihara; Wassim, Khan Mohammad; Goo, Lee; Preetika, Sinh; Eric, Chen Zongming; Angarone, Michael; Weissleder, Ralph; Khasharyasha, Khazaie; Barrett, Terrence A.

    2014-01-01

    BACKGROUND Surveillance colonoscopy using random biopsies to detect colitis-associated cancer (CAC) suffers from poor sensitivity. Although chromo-endoscopy improves detection, acceptance in the community has been slow. Here, we examine the usefulness of near infrared fluorescence (NIRF) endoscopy to image molecular probes for cathepsin activity in colitis-induced dysplasia. METHODS In patient samples, cathepsin activity was correlated with colitis and dysplasia. In mice, cathepsin activity was detected as fluorescent hydrolysis product of substrate based probes (SBPs) after injection into IL-10−/− colitic mice. Fluorescence colonoscopy and colonic whole mount imaging were performed prior to complete sectioning and pathology review of resected colons. RESULTS Cathepsin activity was 5 and 8 – fold higher in dysplasia and CAC respectively, compared to areas of mild colitis in patient tissue sections. The signal to noise ratios for dysplastic lesions seen by endoscopy in IL-10−/− mice were 5.2 ±1.3, (P=0.0001). Lesions with increased NIRF emissions were classified as raised or flat dysplasia, lymphoid tissue and ulcers. Using images collected by endoscopy, a receiver operating characteristic curve (ROC) for correctly diagnosing dysplasia was calculated. The area under the curve was 0.927. At a cut off of 1000 MFI, the sensitivity and specificity for detecting dysplasia were 100% and 83% respectively. Analysis revealed that enhanced NIRF emissions derived from increased numbers of infiltrating myeloid derived suppressor cells and macrophages with equivalent cathepsin activity. CONCLUSIONS These studies indicate that cathepsin SBP imaging correctly identifies dysplastic foci within chronically inflamed colons. Cathepsin-based NIRF endoscopy presents unique advantages that may increase sensitivity and specificity of surveillance colonoscopy in patients with CUC. PMID:23591598

  14. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

    PubMed

    Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D'Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato

    2017-07-04

    To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations. Twenty-eight patients harbouring 23 heterozygous pathogenic variants (ten novel) in tubulin genes TUBA1A (n = 10), TUBB2B (n = 8) or TUBB3 (n = 5) were studied by a brain MRI scan performed either on a 1.5 T (n = 10) or 3 T (n = 18) MR scanner with focus on the posterior fossa. Cerebellar anomalies were detected in 24/28 patients (86%). CD was recognised in 19/28 (68%) including cortical cerebellar dysplasia (CCD) in 18/28, either involving only the cerebellar hemispheres (12/28) or associated with vermis dysplasia (6/28). CCD was located only in the right hemisphere in 13/18 (72%), including four TUBB2B-, four TUBB3- and five TUBA1A-mutated patients, while in the other five TUBA1A cases it was located only in the left hemisphere or in both hemispheres. The postero-superior region of the cerebellar hemispheres was most frequently affected. The cerebellar involvement in tubulinopathies shows specific features that may be labelled as 'tubulin-related CD'. This pattern is unique and differs from other genetic causes of cerebellar dysplasia. • Cortical cerebellar dysplasia without cysts is suggestive of tubulin-related disorder. • Cerebellar dysplasia in tubulinopathies shows specific features labelled as 'tubulin-related CD'. • Focal and unilateral involvement of cerebellar hemispheres has important implications for counselling.

  15. Intraductal papillary mucinous neoplasm (IPMN) with high-grade dysplasia is a risk factor for the subsequent development of pancreatic ductal adenocarcinoma☆

    PubMed Central

    Rezaee, Neda; Barbon, Carlotta; Zaki, Ahmed; He, Jin; Salman, Bulent; Hruban, Ralph H.; Cameron, John L.; Herman, Joseph M.; Ahuja, Nita; Lennon, Anne Marie; Weiss, Matthew J.; Wood, Laura D.; Wolfgang, Christopher L.

    2015-01-01

    Background Non-invasive intraductal papillary mucinous neoplasm (IPMN) with high-grade dysplasia and IPMN-associated invasive pancreatic ductal adenocarcinoma (PDAC) are frequently included under the term “malignancy”. The goal of this study is to clarify the difference between these two entities. Methods From 1996 to 2013, data of 616 patients who underwent pancreatic resection for an IPMN were reviewed. Results The median overall survival for patients with IPMN with high-grade dysplasia (92 months) was similar to survival for patients with IPMN with low/intermediate-grade dysplasia (118 months, p = 0.081), and superior to that of patients with IPMN-associated PDAC (29 months, p < 0.001). IPMN-associated PDAC had lymph node metastasis in 53%, perineural invasion in 58%, and vascular invasion in 33%. In contrast, no lymph node metastasis, perineural or vascular invasion was observed with high-grade dysplasia. None of the patients with IPMN with high-grade dysplasia developed recurrence outside the remnant pancreas. In stark contrast 58% of patients with IPMN-associated PDAC recurred outside the remnant pancreas. The rate of progression within the remnant pancreas was significant in patients with IPMN with high-grade (24%) and with low/intermediate dysplasia (22%, p = 0.816). Conclusion Non-invasive IPMN with high-grade dysplasia should not be considered a malignant entity. Compared to patients with IPMN with low/intermediate-grade dysplasia, those with high-grade dysplasia have an increased risk of subsequent development of PDAC in the remnant pancreas. PMID:27017163

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

    PubMed

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

    2014-08-01

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

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

    PubMed Central

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

    2014-01-01

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

  18. Hereditary ectodermal dysplasia: A retrospective study

    PubMed Central

    More, Chandramani B.; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N.; Tailor, Mansi

    2013-01-01

    Background: Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. Objective: To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. Methodology: The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. Results: It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. Conclusion: ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients. PMID:24082749

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

    PubMed

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

    1990-03-01

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

  20. Mini-implants: alternative for oral rehabilitation of a child with ectodermal dysplasia.

    PubMed

    Mello, Bianca Zeponi Fernandes; Silva, Thiago Cruvinel; Rios, Daniela; Machado, Maria Aparecida Andrade Moreira; Valarelli, Fabrício Pinelli; Oliveira, Thais Marchini

    2015-01-01

    Ectodermal dysplasia is a rare congenital disease that affects several structures of ectodermal origin. The most commonly related oral characteristics are hypodontia, malformed teeth and underdeveloped alveolar ridges. New alternative treatments are needed due to the failure of the conventional prosthesis retention. This case report outlines the oral rehabilitation treatment of a 9-year-old girl with ectodermal dysplasia. The treatment was performed with conventional prosthesis upon mini-implants. The mini-implants provided prosthetic retention. The patient reported a good adaptation of the dental prosthesis and satisfaction with the treatment. The increased self-esteem improved the socialization skills of the girl. In this case report, use of prosthesis with mini-implants was satisfactory for prosthetic retention. However, clinical studies with long-term follow-up are needed to test the mini-implants as an alternative for oral rehabilitation of children with ectodermal dysplasia.

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

    PubMed

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

    1994-01-01

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

  2. A novel RAB33B mutation in Smith-McCort dysplasia.

    PubMed

    Dupuis, Nina; Lebon, Sophie; Kumar, Manoj; Drunat, Séverine; Graul-Neumann, Luitgard M; Gressens, Pierre; El Ghouzzi, Vincent

    2013-02-01

    Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epi-metaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome (DMC) but with normal intelligence and no microcephaly. Although both syndromes were shown to result from mutations in the DYM gene, which encodes the Golgi protein DYMECLIN, a few SMC patients remained negative in DYM mutation screening. Recently, autozygosity mapping and exome sequencing in a large SMC family have allowed the identification of a missense mutation in RAB33B, another Golgi protein involved in retrograde transport of Golgi vesicles. Here, we report a novel RAB33B mutation in a second SMC case that leads to a marked reduction of the protein as shown by Western blot and immunofluorescence. These data confirm the genetic heterogeneity of SMC dysplasia and highlight the role of Golgi transport in the pathogenesis of SMC and DMC syndromes. © 2012 Wiley Periodicals, Inc.

  3. 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.

  4. Familial Florid Cemento-Osseous Dysplasia: A Rare Manifestation in an Indian Family

    PubMed Central

    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. PMID:23198165

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

    PubMed

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

    2007-02-01

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

  6. Dual-mode endomicroscopy for detection of epithelial dysplasia in the mouth: a descriptive pilot study

    NASA Astrophysics Data System (ADS)

    Bodenschatz, Nico; Poh, Catherine F.; Lam, Sylvia; Lane, Pierre; Guillaud, Martial; MacAulay, Calum E.

    2017-08-01

    Dual-mode endomicroscopy is a diagnostic tool for early cancer detection. It combines the high-resolution nuclear tissue contrast of fluorescence endomicroscopy with quantified depth-dependent epithelial backscattering as obtained by diffuse optical microscopy. In an in vivo pilot imaging study of 27 oral lesions from 21 patients, we demonstrate the complementary diagnostic value of both modalities and show correlations between grade of epithelial dysplasia and relative depth-dependent shifts in light backscattering. When combined, the two modalities provide diagnostic sensitivity to both moderate and severe epithelial dysplasia in vivo.

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

    PubMed

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

    2016-05-25

    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.

  8. [Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy X-linked dominant chondrodysplasia punctata].

    PubMed

    Polák, P; Baxová, A; Křepelová, A; Balák, M

    2014-06-01

    Case report describes successful prenatal diagnosis of skeletal dysplasia in the first trimester of pregnancy in a female patient affected with X-linked dominat chondrodysplasia punctata (CDPX2). Her first pregnancy was terminated in the second trimester due to skeletal dysplasia of the foetus. The diagnosis in the following pregnancy was finished in the first trimester - before the end of the 13th gestational week. The diagnosis was established on the basis of ultrasonographic (US) examination and mutation analysis of the EBP gene in the material of chorionic villus sampling (CVS).

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

    PubMed

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

    2017-03-01

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

  10. Dual-mode endomicroscopy for detection of epithelial dysplasia in the mouth: a descriptive pilot study.

    PubMed

    Bodenschatz, Nico; Poh, Catherine F; Lam, Sylvia; Lane, Pierre; Guillaud, Martial; MacAulay, Calum E

    2017-08-01

    Dual-mode endomicroscopy is a diagnostic tool for early cancer detection. It combines the high-resolution nuclear tissue contrast of fluorescence endomicroscopy with quantified depth-dependent epithelial backscattering as obtained by diffuse optical microscopy. In an in vivo pilot imaging study of 27 oral lesions from 21 patients, we demonstrate the complementary diagnostic value of both modalities and show correlations between grade of epithelial dysplasia and relative depth-dependent shifts in light backscattering. When combined, the two modalities provide diagnostic sensitivity to both moderate and severe epithelial dysplasia in vivo. (2017) COPYRIGHT Society of Photo-Optical Instrumentation Engineers (SPIE).

  11. Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma.

    PubMed

    Kahn, Leonard B

    2003-05-01

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

  12. Fibrous Dysplasia Characterization Using Lacunarity Analysis.

    PubMed

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

    2016-02-01

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

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

    PubMed Central

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

    1989-01-01

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

  14. [Bernese periacetabular osteotomy for the treatment of severe hip dysplasia].

    PubMed

    Huang, Ye; Zhang, Hong; Liu, Qing; Jiang, Zeng-hui; Dou, Yong

    2010-02-15

    To analyze the mid-term clinical and radiographic results obtained with the Bernese periacetabular osteotomy for the treatment of severe hip dysplasia. From October 1997 to December 2002 20 hips of 18 patients were classified as having severe acetabular dysplasia (Severin classification Grade IVb). Preoperatively, all patients had hip pain, and sufficient hip joint congruency on functional radiographs. All 20 hips underwent Bernese periacetabular osteotomy. Postoperatively, the hips were assessed radiographically on center edge angle (CE), acetabular roof obliquity and the progression of osteoarthritis. Clinical results and hip function were measured with the Harris hip score at an average of 6.2 years follow-up. Comparison of preoperative and follow-up radiographs demonstrated significant improvements in the lateral CE angle, the anterior CE angle, and roof obliquity. The average Harris hip score improved from 78.5 points preoperatively to 91.1 points at the time of the latest follow-up. Fourteen of 18 patients were satisfied with the result of the surgery, and 16 of 20 hips had a good or excellent clinical result. Under-correction occurred in 5 hips. The Bernese periacetabular osteotomy is an effective procedure for surgical correction of the severe dysplastic hip. This osteotomy can predictably obtain major reorientation of the acetabulum in all planes. The clinical results in the mid-term follow-up are encouraging.

  15. Changes in pulmonary circulation in severe bronchopulmonary dysplasia.

    PubMed

    Bush, A; Busst, C M; Knight, W B; Hislop, A A; Haworth, S G; Shinebourne, E A

    1990-07-01

    Eight patients with severe bronchopulmonary dysplasia underwent cardiac catheterisation. Seven had a pulmonary vascular resistance greater than 3 mm Hg.l-1 min.m2 (mean 8.9, range 2.2-13.8). All had raised intrapulmonary shunts (mean 25.6%, range 5.4-50%, normal less than 5%). Two had a high alveolar dead space, and two had unsuspected congenital heart disease. Epoprostenol (prostacyclin), but not 100% oxygen, caused a significant fall in pulmonary vascular resistance. Death was associated with a high pulmonary vascular resistance and a high shunt. Morphometric studies in three cases showed normal numbers of airways, but increased thickness of bronchial muscle. The numbers of alveoli were reduced and the walls thickened. There was increased medial thickness in small pulmonary arteries with distal extension of muscle. In the oldest child some vessels were obliterated by fibrosis. We speculate that measurements of pulmonary vascular resistance and shunt may have prognostic value; that a trial of pulmonary vasodilators other than oxygen might be worthwhile in patients with poor prognosis; and that abnormalities of the pulmonary circulation contribute to the difficulties of managing patients with bronchopulmonary dysplasia.

  16. Camptomelic dysplasia: prenatal diagnosis by ultrasound.

    PubMed

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

    2006-09-01

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

  17. [Tricuspid valve dysplasia in fifteen dogs].

    PubMed

    Hoffmann, G; Amberger, C N; Seiler, G; Lombard, C W

    2000-05-01

    Clinical findings in fifteen dogs with tricuspid valve dysplasia are described. Thirteen dogs had loud systolic heart murmurs. Eleven of them hat a palpable precordial thrill over the same location. In 14 dogs, right heart enlargement was suspected on thoracic radiographs and electrocardiography. Right atrial dilation was seen echocardiographically in all dogs. Fourteen dogs had additional right ventricular dilatation, some with hypertrophy as well. Doppler echocardiography revealed tricuspid valve regurgitation. Seven dogs remained free of clinical symptoms to date. If symptoms of decompensation develop with tricuspid dysplasia, diuretics, ACE inhibitors and eventually positive inotrope drugs are indicated. Antiarrhythmic drugs may become necessary in cases of supraventricular tachyarrhythmias.

  18. [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.

  19. Recurrent spontaneous coronary artery dissection in a woman with fibromuscular dysplasia.

    PubMed

    Khosla, Amit; Saw, Jacqueline

    2015-06-01

    We report a case of five recurrent myocardial infarctions due to repeat spontaneous coronary artery dissection (SCAD) in a woman with underlying fibromuscular dysplasia. Her angiographic SCADs were missed on two occasions. Patients with a history of SCAD are at risk for recurrent dissections. This case also highlights the angiographic variants of SCAD, and the utility of intracoronary imaging in diagnosing suspected SCAD.

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

    PubMed Central

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

    2016-01-01

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

  1. Fibrous dysplasia of the rib presenting as a huge chest wall tumor: report of a case.

    PubMed

    Chang, B S; Lee, S C; Harn, H J

    1994-07-01

    Fibrous dysplasia of the rib is not uncommon, but is rarely demonstrated as a huge chest wall mass with severe clinical symptoms. A 59-year-old patient, presenting with a huge, rapidly expanding chest wall tumor compressing the lung, liver and heart accompanied by chest pain and dyspnea, is reported. The tumor was success-fully excised by local radical resection.

  2. 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

  3. Denosumab treatment for fibrous dysplasia.

    PubMed

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

    2012-07-01

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

  4. 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

  5. Mucin1 expression in focal epidermal dysplasia of actinic keratosis

    PubMed Central

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

    2015-01-01

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

  6. Mucin1 expression in focal epidermal dysplasia of actinic keratosis.

    PubMed

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

    2015-10-01

    Actinic keratoses (AKs) are generally considered as premalignant skin lesions that can progress into squamous cell carcinoma (SCC) in situ and invasive SCC. However, its progression to SCC is still matter of debate. A transmembrane glycoprotein that contributes to the progression of certain premalignant and malignant lesions is mucin1 (MUC1). Nevertheless, their functions in the skin lesions are not yet fully clear. Therefore, the aim of this study is to ascertain whether MUC1 is present in the focal epidermal dysplasia of AK. Fourteen skin biopsies from patients diagnosed with AK were selected. They were classified according to the degree of