Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

PubMed

Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

2017-06-01

Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

Best practices in peri-operative management of patients with skeletal dysplasias.

PubMed

White, Klane K; Bompadre, Viviana; Goldberg, Michael J; Bober, Michael B; Cho, Tae-Joon; Hoover-Fong, Julie E; Irving, Melita; Mackenzie, William G; Kamps, Shawn E; Raggio, Cathleen; Redding, Gregory J; Spencer, Samantha S; Savarirayan, Ravi; Theroux, Mary C

2017-10-01

Patients with skeletal dysplasia frequently require surgery. This patient population has an increased risk for peri-operative complications related to the anatomy of their upper airway, abnormalities of tracheal-bronchial morphology and function; deformity of their chest wall; abnormal mobility of their upper cervical spine; and associated issues with general health and body habitus. Utilizing evidence analysis and expert opinion, this study aims to describe best practices regarding the peri-operative management of patients with skeletal dysplasia. A panel of 13 multidisciplinary international experts participated in a Delphi process that included a thorough literature review; a list of 22 possible care recommendations; two rounds of anonymous voting; and a face to face meeting. Those recommendations with more than 80% agreement were considered as consensual. Consensus was reached to support 19 recommendations for best pre-operative management of patients with skeletal dysplasia. These recommendations include pre-operative pulmonary, polysomnography; cardiac, and neurological evaluations; imaging of the cervical spine; and anesthetic management of patients with a difficult airway for intubation and extubation. The goals of this consensus based best practice guideline are to provide a minimum of standardized care, reduce perioperative complications, and improve clinical outcomes for patients with skeletal dysplasia. © 2017 Wiley Periodicals, Inc.

Cancer risk after resection of polypoid dysplasia in patients with longstanding ulcerative colitis: a meta-analysis.

PubMed

Wanders, Linda K; Dekker, Evelien; Pullens, Bo; Bassett, Paul; Travis, Simon P L; East, James E

2014-05-01

American and European guidelines propose complete endoscopic resection of polypoid dysplasia (adenomas or adenoma-like masses) in patients with longstanding colitis, with close endoscopic follow-up. The incidence of cancer after detection of flat low-grade dysplasia or dysplasia-associated lesion or mass is estimated at 14 cases/1000 years of patient follow-up. However, the risk for polypoid dysplasia has not been determined with precision. We investigated the risk of cancer after endoscopic resection of polypoid dysplasia in patients with ulcerative colitis. MEDLINE, EMBASE, PubMed, and the Cochrane library were searched for studies of patients with colitis and resected polypoid dysplasia, with reports of colonoscopic follow-up and data on cancers detected. Outcomes from included articles were pooled to provide a single combined estimate of outcomes by using Poisson regression. Of 425 articles retrieved, we analyzed data from 10 studies, comprising 376 patients with colitis and polypoid dysplasia with a combined 1704 years of follow-up. A mean of 2.8 colonoscopies were performed for each patient after the index procedure (range, 0-15 colonoscopies). The pooled incidence of cancer was 5.3 cases (95% confidence interval, 2.7-10.1 cases)/1000 years of patient follow-up. There was no evidence of heterogeneity or publication bias. The pooled rate of any dysplasia was 65 cases (95% confidence interval, 54-78 cases)/1000 patient years. Patients with colitis have a low risk of colorectal cancer after resection of polypoid dysplasia; these findings support the current strategy of resection and surveillance. However, these patients have a 10-fold greater risk of developing any dysplasia than colorectal cancer and should undergo close endoscopic follow-up. Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland.

PubMed

Krüger, Liisamari; Pohjolainen, Timo; Kaitila, Ilkka; Kautiainen, Hannu; Arkela-Kautiainen, Marja; Hurri, Heikki

2013-03-01

The purpose of the present study was to gain a comprehensive view of the quality of life and socio-economic conditions in a more representative sample of patients with diastrophic dysplasia than previously presented. The study sample comprised 115 patients with diastrophic dysplasia, aged over 18 years. The patients were contacted, and 68 patients (59%) agreed to participate in the study. They answered a structured questionnaire, which included the items of RAND-36 and Finn-Health Assessment Questionnaire (Finn-HAQ) questionnaires. The Finn-HAQ items were linked to the categories of the International Classification of Functioning, Disability and Health (ICF). Population controls for matching the participating patients for age and sex were identified in the Finnish population registry. Demographic and social factors (educational status, employment status and household income) were collected in separated questions. RAND-36 showed significantly lower physical functioning in the group of diastrophic dysplasia patients than in the control group. Also, the differences in scores for energy and social functioning were significant. In the mental component scales, no significant difference was found between the groups. When compared with the controls, we found significantly lower levels in all 3 ICF components of functioning in the group of patients when Finn-MDHAQ items linked to ICF were used. Almost 75% of patients with diastrophic dysplasia belonged to the group of people with minor/low income. Some or clear worsening of economic situation due to diastrophic dysplasia was reported by 25 (58%) female and 17 (68%) male patients. In their daily living, patients with diastrophic dysplasia have marked physical difficulties, which affect their quality of life, participation in society and their financial situation. It seems that the mental situation is not greatly affected, but a more detailed study is needed to evaluate and illuminate the psychological consequences of this

When should ulcerative colitis patients undergo colectomy for dysplasia? Mismatch between patient preferences and physician recommendations.

PubMed

Siegel, Corey A; Schwartz, Lisa M; Woloshin, Steven; Cole, Elisabeth B; Rubin, David T; Vay, Tegan; Baars, Judith; Sands, Bruce E

2010-10-01

If dysplasia is found on biopsies during surveillance colonoscopy for ulcerative colitis (UC), many experts recommend colectomy given the substantial risk of synchronous colon cancer. The objective was to learn if UC patients' perceptions of their colon cancer risk and if their preferences for elective colectomy match with physicians' recommendations if dysplasia was found. A self-administered written survey included 199 patients with UC for at least 8 years (mean age 49 years, 52% female) who were recruited from Dartmouth-Hitchcock (n = 104) and the University of Chicago (n = 95). The main outcome was the proportion of patients who disagree with physicians' recommendations for colectomy because of dysplasia. Almost all respondents recognized that UC raised their chance of getting colon cancer. In all, 74% thought it was "unlikely" or "very unlikely" to get colon cancer within the next 10 years and they quantified this risk to be 23%; 60% of patients would refuse a physician's recommendation for elective colectomy if dysplasia was detected, despite being told that they had a 20% risk of having cancer now. On average, these patients would only agree to colectomy if their risk of colon cancer "right now" were at least 73%. UC patients recognize their increased risk of colon cancer and undergo frequent surveillance to reduce their risk. Nonetheless, few seem prepared to follow standard recommendations for elective colectomy if dysplasia is found. This may reflect the belief that surveillance alone is sufficient to reduce their colon cancer risk or genuine disagreement about when it is worth undergoing colectomy.

The evaluation of lumbosacral dysplasia in young patients with lumbosacral spondylolisthesis: comparison with controls and relationship with the severity of slip.

PubMed

Pawar, Abhijit; Labelle, Hubert; Mac-Thiong, Jean-Marc

2012-11-01

Comparison of lumbosacral dysplasia between normal individuals and patients with low and high grade spondylolisthesis has not been done previously. The objective of this study is to evaluate the relationship between lumbosacral dysplasia and severity of slip in young patients with lumbosacral spondylolisthesis. Postero-anterior and lateral radiographs of 120 normal individuals and 131 patients with developmental spondylolisthesis (91 low and 40 high grades) were reviewed. Quantitative evaluation of lumbosacral dysplasia was done using 6 criteria involving the degree of laminar dysplasia, degree of facet dysplasia, size of L5 transverse processes, L5/S1 disc height, type of sacral doming and L5 lumbar index. Subjects were categorized as having no/low, moderate or severe dysplasia based on the total dysplasia score. Comparisons in total dysplasia score between normal, low grade and high grade groups were performed and the correlation between degree of dysplasia and percentage of slip was assessed. Most normal individuals (88.3%) had no/low dysplasia; most patients with low grade spondylolisthesis (61.5%) had moderate dysplasia, while most patients with high grade spondylolisthesis (72.5%) had severe dysplasia. There was a significant difference in dysplasia between normal individuals and patients with spondylolisthesis. Dysplasia also varied significantly between low and high grade spondylolisthesis. There was a strong positive correlation (r = 0.63) between severity of dysplasia and percentage of slip. There is a significant relationship between the severity of spondylolisthesis and lumbosacral dysplasia, with mainly no/low dysplasia observed in controls and increasing total dysplasia scores in higher grades of spondylolisthesis. In addition, a variable degree of dysplasia was found within groups with low or high grade spondylolisthesis, suggesting that different subgroups of patients exist with regard to dysplasia. Thus the degree of dysplasia varies in

Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.

PubMed

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

2010-09-01

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

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

When Should Ulcerative Colitis Patients Undergo Colectomy for Dysplasia? Mismatch Between Patient Preferences and Physician Recommendations

PubMed Central

Siegel, Corey A.; Schwartz, Lisa M.; Woloshin, Steven; Cole, Elisabeth B.; Rubin, David T.; Vay, Tegan; Baars, Judith; Sands, Bruce E.

2010-01-01

Background If dysplasia is found on biopsies during surveillance colonoscopy for ulcerative colitis (UC), many experts recommend colectomy given the substantial risk of synchronous colon cancer. The objective was to learn if UC patients’ perceptions of their colon cancer risk and if their preferences for elective colectomy match with physicians’ recommendations if dysplasia was found. Methods A self-administered written survey included 199 patients with UC for at least 8 years (mean age 49 years, 52% female) who were recruited from Dartmouth-Hitchcock (n = 104) and the University of Chicago (n = 95). The main outcome was the proportion of patients who disagree with physicians’ recommendations for colectomy because of dysplasia. Results Almost all respondents recognized that UC raised their chance of getting colon cancer. In all, 74% thought it was “unlikely” or “very unlikely” to get colon cancer within the next 10 years and they quantified this risk to be 23%; 60% of patients would refuse a physician’s recommendation for elective colectomy if dysplasia was detected, despite being told that they had a 20% risk of having cancer now. On average, these patients would only agree to colectomy if their risk of colon cancer “right now” were at least 73%. Conclusions UC patients recognize their increased risk of colon cancer and undergo frequent surveillance to reduce their risk. Nonetheless, few seem prepared to follow standard recommendations for elective colectomy if dysplasia is found. This may reflect the belief that surveillance alone is sufficient to reduce their colon cancer risk or genuine disagreement about when it is worth undergoing colectomy. PMID:20186940

Prevalence of High-Grade Cartilage Defects in Patients With Borderline Dysplasia With Femoroacetabular Impingement: A Comparative Cohort Study.

PubMed

Bolia, Ioanna K; Briggs, Karen K; Locks, Renato; Chahla, Jorge; Utsunomiya, Hajime; Philippon, Marc J

2018-05-02

To compare the prevalence, size, and location of Outerbridge grade III and IV cartilage defects on the femoral head and acetabulum between patients with borderline acetabular dysplasia and patients with non-borderline dysplasia who underwent hip arthroscopy for femoroacetabular impingement (FAI). Patients aged 18 years or older who underwent primary hip arthroscopy for correction of FAI and labral repair from November 2005 to April 2016 were included. We excluded patients with previous hip surgery, a radiographic hip joint space of 2 mm or less, and/or a lateral center-edge angle (LCEA) of less than 20° or greater than 40°. The study patients were divided into 2 groups based on the LCEA on the anteroposterior pelvic radiograph: Patients with an LCEA between 20° and 25° were included in the borderline group, and patients with an LCEA between 25° and 40° were included in the non-borderline group. The prevalence, size, and location of Outerbridge grade III and IV chondral lesions on the femoral head and acetabulum were recorded intraoperatively. Comparisons between groups were performed with the Mann-Whitney U test for nonparametric testing and the t test for data that were normally distributed. Data were analyzed to calculate odds ratios associated with the various factors. In total, 2,429 patients (1,114 women and 1,315 men) met the inclusion criteria. The borderline group consisted of 305 patients (150 men and 155 women), whereas the non-borderline dysplasia group comprised 2,124 patients (1,165 men and 959 women). Outerbridge grade III and IV chondral lesions were found on the femoral head in 118 patients with borderline dysplasia (39%) and 127 patients with non-borderline dysplasia (6%) and on the acetabulum in 132 patients with borderline dysplasia (43%) and 874 patients with non-borderline dysplasia (41%). Patients with borderline dysplasia were 10 times more likely (95% confidence interval, 7.3-13.4; P < .001) to have a grade III or IV cartilage

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.

[Advances in bone dysplasias].

PubMed

Borrego, E; Farrington, D M; Downey, F J

2014-01-01

The prevalence of bone dysplasias is estimated to be one case per 1,000 inhabitants, which suggests that, at some point in the career of an orthopaedic surgeon, he will face with one of these patients. The aim of this paper is to review the general aspects of bone dysplasias and focus on those, which due to their frequency and importance, we consider most relevant (achondroplasia, multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia, osteogenesis imperfecta), reviewing their fundamental features and the latest therapeutic advances. There is no cure for these diseases, so early diagnosis and appropriate therapeutic management, becomes the key to improving quality of life of these patients. Copyright © 2013 SECOT. Published by Elsevier Espana. All rights reserved.

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

Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

PubMed

Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

2005-12-01

In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral

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

PubMed

Krøigård, Anne Bruun; Clemmensen, Ole; Gjørup, Hans; Hertz, Jens Michael; Bygum, Anette

2016-03-10

Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS). We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD. Genetic testing showed that she was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental examination revealed agenesis of permanent teeth except the two maxillary central incisors. Skin biopsies from the hyperkeratotic palms and soles showed the characteristic changes of eccrine syringofibroadenomatosis, which has been described in patients with ectodermal dysplasias. Together with a family history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia. This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions.

Ophthalmic manifestations in patients with ectodermal dysplasia syndromes.

PubMed

Keklikci, Ugur; Yavuz, Izzet; Tunik, Selcuk; Ulku, Zelal Baskan; Akdeniz, Sedat

2014-01-01

Ectodermal dysplasia (ED) is a disorder that results from abnormal formation of at least two of the four major ectodermal derivatives in the developing embryo. The ectoderm of the embryo forms the skin, teeth, hair and nails, sweat glands and part of the eyes. The aim of this article is to reveal ophthalmologic symptoms and signs as multidisciplinary, reliable criteria for ectodermal dysplasia. In this retrospective study, 24 patients with ED were analyzed from the recorded data. Ophthalmological examination of the patients, who had previously received the diagnosis of ED in the dental department, was done. During the examination, ocular symptoms related to tear film, corneal changes, lacrimal duct, periorbital hyperpigmentation, alteration lashes and eyebrows were evaluated. The age ranged between 3-45, and the mean and standard deviation (Mean ± SD) was 15.8 ± 7.4 years. The number of males was 13 (54.2%) and females, 11 (45.8%). Eighteen patients (75.0%) suffered from ocular complaints related to the ocular surface. In 11 of the patients with ED, there were dry eye symptoms. While the mean age of cases with eye involvement was 17.5, it was 23.1 in cases with dry eye symptoms. In the study, it was observed that, in patients with ED, ocular complaints, particularly dry eye symptoms, may increase as age advances.

Quality-of-Life Outcomes of Patients following Patellofemoral Stabilization Surgery: The Influence of Trochlear Dysplasia.

PubMed

Hiemstra, Laurie Anne; Kerslake, Sarah; Lafave, Mark R

2017-11-01

Trochlear dysplasia is a well-described risk factor for recurrent patellofemoral instability. Despite its clear association with the incidence of patellofemoral instability, it is unclear whether the presence of high-grade trochlear dysplasia influences clinical outcome after patellofemoral stabilization. The purpose of this study was to assess whether trochlear dysplasia influenced patient-reported, disease-specific outcomes in surgically treated patellar instability patients, when risk factors were addressed in accordance with the à la carte surgical approach to the treatment of patellofemoral instability. The study design is of a case series. A total of 318 patellar stabilization procedures were performed during the study period. Of these procedures, 260 had adequate lateral radiographs and complete Banff Patellar Instability Instrument (BPII) scores available for assessment. A Pearson r correlation was calculated between four characteristics of trochlear dysplasia, the BPII total and the BPII symptoms, and physical complaints scores, a mean of 24 months following patellofemoral stabilization. Independent t -tests were performed between stratified trochlear dysplasia groups (no/low grade and high grade) and all BPII measures. There was a statistically significant correlation between measures of trochlear dysplasia and quality-of-life physical symptoms scores, an average of 2 years following patellofemoral stabilization surgery. The BPII symptoms and physical complaints domain score, as well as the individual weakness and stiffness questions, correlated with the classification of trochlear dysplasia as well as the presence of a trochlear bump ( p  < 0.05). Independent t -tests demonstrated statistically significant differences between the no/low-grade and high-grade dysplasia groups for the BPII stiffness ( p  = 0.002), BPII weakness ( p  = 0.05) and BPII symptom, and physical complaints values ( p  = 0.04). Two additional measures-the 24-month

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

PubMed

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

2011-03-01

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

Outcomes of Hip Arthroscopy for Patients with Symptomatic Borderline Dysplasia

PubMed Central

Nawabi, Danyal H.; Bedi, Asheesh; Ranawat, Anil S.; Kelly, Bryan T.

2015-01-01

Objectives: The outcomes of hip arthroscopy in the treatment of dysplasia are variable. Arthroscopy in severe dysplasia (LCEA<18°) results in poor outcomes and iatrogenic instability. However, in milder forms of dysplasia, favorable outcomes have been demonstrated at short-term follow-up. The purpose of this study was to compare outcomes of hip arthroscopy in borderline dysplastic patients to a control group of non-dysplastic patients undergoing hip arthroscopy for femorocetabular impingement (FAI). Methods: Between March 2009 and May 2012, 1381 patients (1593 hips) undergoing hip arthroscopy for intra-articular hip disorders were prospectively enrolled into a registry. From this cohort, a borderline dysplasia (BD) group comprising 44 patients (46 hips) with a LCEA ≥ 18° and ≤ 25° and a minimum of 2 years follow-up, was identified. A control group of 100 patients (123 hips) was also identified that had a LCEA ≥ 26° and ≤ 40°, and a minimum of 2 years follow-up. Patient-reported outcome scores, including the Modified Harris Hip Score (mHHS), the Hip Outcome Score-Activity of Daily Living (HOS-ADL), the Sport-specific Subscale (HOS-SSS), and the International Hip Outcome Tool (iHOT-33), were obtained preoperatively and at 6 months, 1, 2, and 3 years postoperatively. Continuous and categorical variables were compared with independent-samples t-tests and chi-square or Fisher's exact tests (as appropriate) respectively. Changes in outcomes scores within groups were assessed via paired t-tests. Results: The mean age (±SD) of the BD and control groups was 29.3 ± 9.2 years and 29.1 ± 10.1 years respectively. There were 24 females (55%) in the BD group and 53 females (53%) in the control group (p=0.86). The mean LCEA was 21.8° (range, 18°-25°) in the BD group and 31.7° (range, 26°-40°) in the control group (p<0.001). The mean Tönnis angle was 6.2° (range, 1°-12°) in the BD group and 2.6° (range, -10°-12°) in the control group (p<0.001). The mean

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.

Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.

PubMed

Yildirim, Muzeyyen; Yorgancilar, Ediz; Gun, Ramazan; Topcu, Ismail

2012-02-01

The aim of this prospective study was to improve the quality of life of and reduce morbidity for patients with ectodermal dysplasia by assessing their actual and potential ENT pathologies, and offering methods of prevention and treatment. The study was conducted between 2006 and 2008 and included 23 patients diagnosed with ectodermal dysplasia. The major symptoms of ectodermal dysplasia were evaluated. Patient histories were obtained in all cases, and a complete head and neck examination was carried out. Of the 23 patients (11 males and 12 females, aged 5 to 45 years) diagnosed with ectodermal dysplasia, 22 had hypohidrotic ectodermal dysplasia and 1 had ectrodactyly-ectodermal dysplasia-clefting syndrome. In all patients diagnosed with hypohidrotic ectodermal dysplasia, the salivary glands were examined by ultrasonography and, when necessary, by scintigraphy. Hearing defects in patients with otologic problems were determined by audiometric examination: 39.1% of the patients had hearing loss, 43.5% had otitis media, and 39.1% had impacted cerumen. The most common rhinologic findings were saddle nose deformity in 56.5%, nasal obstruction and nasal dryness (52.2% each), and chronic rhinitis/rhinosinusitis (34.8%). The most common oral and oropharyngeal findings were difficulty chewing in 82.6% and dry mouth in 78.3%. All 23 patients had required dental work. Because this disorder affects several aspects of the body, its treatment requires a multidisciplinary approach, with the otolaryngologist being a vital part of the management team.

Development of gastric dysplasia in pernicious anaemia: a clinical and endoscopic follow up study of 80 patients.

PubMed Central

Armbrecht, U; Stockbrügger, R W; Rode, J; Menon, G G; Cotton, P B

1990-01-01

The development of gastric dysplasia and neoplasia in patients with pernicious anaemia has been evaluated in a prospective clinical and endoscopic follow up study. After initial screening of 80 patients between 1978 and 1980, one patient underwent total gastrectomy for a gastric malignancy and 12 were kept under surveillance and underwent endoscopy at a mean interval of 14 months. In the remaining 67 patients further investigation was attempted six to seven years after the initial investigation. The continuous follow up study identified carcinoids in one patient and an adenoma with severe dysplasia in a further patient. The grade and site of mucosal dysplasia differed from one investigation to the next, but no overall progression was observed. Of the 79 patients, eight had died by the time of the reinvestigation, two of unknown cause and six of causes unrelated to pernicious anaemia. In 38 of the remaining 71 patients, clinical data only were available, with no evidence of new gastric malignancy. In 27 patients it was possible to perform an upper gastrointestinal endoscopy, when no change in the degree of dysplasia was detected. In six patients no follow up information was obtainable. In conclusion, patients with pernicious anaemia should be investigated by upper gastrointestinal endoscopy soon after diagnosis. Polyps should be removed wherever possible. In the presence of severe mucosal dysplasia or polyps that are not removed, frequent reinvestigation should be performed, provided the patient is eligible for gastric surgery. In the remaining patients, follow up endoscopies at about five year intervals would seem sufficient. PMID:2083855

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

PubMed Central

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

2016-01-01

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

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

PubMed

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

2016-07-01

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

[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.

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 ...

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

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.

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.

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.

FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.

PubMed

Farmakis, Shannon G; Shinawi, Marwan; Miller-Thomas, Michelle; Radmanesh, Alireza; Herman, Thomas E

2015-03-01

Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type. This group of disorders has very characteristic clinical and radiologic features, which distinguish them from other skeletal dysplasias. They display a spectrum of severity in the skeletal findings, ranging from relatively mild hypochondroplasia to lethal thanatophoric dysplasia. We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN.

Clinical Outcomes After Isolated Medial Patellofemoral Ligament Reconstruction for Patellar Instability Among Patients With Trochlear Dysplasia.

PubMed

Liu, Joseph N; Brady, Jacqueline M; Kalbian, Irene L; Strickland, Sabrina M; Ryan, Claire Berdelle; Nguyen, Joseph T; Shubin Stein, Beth E

2018-03-01

Medial patellofemoral ligament (MPFL) reconstruction has become one of the most common and widely used procedures to regain stability among patients with recurrent lateral patellar dislocation. While recent studies demonstrated low recurrence rates, improved patient-reported outcome measures, and a high rate of return to sports, limited literature explored its effectiveness as an isolated intervention in the context of trochlear dysplasia. To determine the efficacy of isolated MPFL reconstruction in treating patellar instability in the setting of trochlear dysplasia. Case series; Level of evidence, 4. This was a retrospective review of consecutive patients who underwent uni- or bilateral medial patellofemoral ligament reconstruction for patellofemoral instability with a minimum 2-year follow-up. No osteotomies were included. Pre- and postoperative assessment included ligamentous laxity, patellar crepitus, tilt, translation, apprehension, and radiographic features, including tibial tubercle-trochlear groove (TT-TG) distance, Dejour classification, and Caton-Deschamps index. A total of 121 MPFL reconstructions were included. Mean age at surgery was 23.8 years, and 4.4 dislocation events occurred before surgery. Mean follow-up was 44 months; 76% of patients were female. Mean preoperative TT-TG ratio was 13.5, and mean Caton-Deschamps ratio was 1.2; 92% of patients had Dejour B, C, or D trochlear dysplasia. Kujala score improved from 55.0 preoperatively to 90.0 ( P < .001). Almost all patients (94.5%) were able to return to sports at 1 year, with 74% returning to the same or higher level of play. Only 3 patients reported a postoperative dislocation or subluxation event. For patients without significantly elevated TT-TG distances or significant patella alta, isolated MPFL reconstruction provides a safe and effective treatment for patellofemoral instability, despite the presence of trochlear dysplasia. Most patients are able to return to sports by 1 year postoperatively

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

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

PubMed

Lu, Xiaohong; Yu, Yuanjie; Tan, Shiyun

2017-10-25

Tumor suppressor gene p53 expression has been reported in patients with ulcerative colitis (UC). However, the correlation between p53 expression and UC remains controversial. The aim of this meta-analysis was to investigate the association between p53 expression and different pathological types of UC. Publications were searched in the PubMed, Embase, EBSCO, Wangfang, and CNKI databases. The overall odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs) were summarized in this study. Final 19 papers were identified in this meta-analysis, including 1068 patients with UC and 130 normal tissue samples. Immunohistochemical p53 expression was significantly higher in UC without dysplasia and carcinoma (UC group) compared to normal tissue samples (OR = 3.14, P = 0.001), higher in UC with dysplasia than in UC group (OR = 10.76, P < 0.001), and higher in UC with colorectal cancer (CRC) than in UC with dysplasia (OR = 1.69, P = 0.035). Subgroup analysis of ethnicity (UC group vs. normal tissues) showed that p53 expression was correlated with UC in Asians, but not in Caucasians. When UC with dysplasia was compared to UC group, p53 expression was linked to UC with dysplasia among both Asians and Caucasians. When UC-CRC was compared to UC with dysplasia, p53 expression was not associated with UC-CRC in both Caucasians and Asians. p53 expression was closely associated with UC-CRC development. p53 expression showed different ethnic characteristics among different pathological types of UC.

[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.

Seven tesla MRI improves detection of focal cortical dysplasia in patients with refractory focal epilepsy.

PubMed

Veersema, Tim J; Ferrier, Cyrille H; van Eijsden, Pieter; Gosselaar, Peter H; Aronica, Eleonora; Visser, Fredy; Zwanenburg, Jaco M; de Kort, Gerard A P; Hendrikse, Jeroen; Luijten, Peter R; Braun, Kees P J

2017-06-01

The aim of this study is to determine whether the use of 7 tesla (T) MRI in clinical practice leads to higher detection rates of focal cortical dysplasias in possible candidates for epilepsy surgery. In our center patients are referred for 7 T MRI if lesional focal epilepsy is suspected, but no abnormalities are detected at one or more previous, sufficient-quality lower-field MRI scans, acquired with a dedicated epilepsy protocol, or when concealed pathology is suspected in combination with MR-visible mesiotemporal sclerosis-dual pathology. We assessed 40 epilepsy patients who underwent 7 T MRI for presurgical evaluation and whose scans (both 7 T and lower field) were discussed during multidisciplinary epilepsy surgery meetings that included a dedicated epilepsy neuroradiologist. We compared the conclusions of the multidisciplinary visual assessments of 7 T and lower-field MRI scans. In our series of 40 patients, multidisciplinary evaluation of 7 T MRI identified additional lesions not seen on lower-field MRI in 9 patients (23%). These findings were guiding in surgical planning. So far, 6 patients underwent surgery, with histological confirmation of focal cortical dysplasia or mild malformation of cortical development. Seven T MRI improves detection of subtle focal cortical dysplasia and mild malformations of cortical development in patients with intractable epilepsy and may therefore contribute to identification of surgical candidates and complete resection of the epileptogenic lesion, and thus to postoperative seizure freedom.

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

PubMed

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

2018-03-01

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

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.

Surveillance and management of dysplasia in ulcerative colitis.

PubMed

Rodriguez, Sarah A; Collins, Judith M; Knigge, Kandice L; Eisen, Glenn M

2007-03-01

Recently updated practice guidelines give specific recommendations on surveillance and management of dysplasia in patients with ulcerative colitis. Previous studies of gastroenterologists in the United States and the United Kingdom demonstrated inconsistent surveillance techniques and limited understanding of the implications of dysplasia. To demonstrate current surveillance practices and management of dysplasia among U.S. gastroenterologists. An 18-item questionnaire was mailed to 1000 gastroenterologists in the United States who were randomly selected from an American Gastroenterological Association mailing list. United States. A total of 334 questionnaires were returned, and 312 were analyzed: 25% of respondents were in academic practice and 75% were in private practice. The majority were in practice more than 10 years. Nearly 80% begin surveillance colonoscopy at 8 to 10 years of disease duration for patients with pancolitis, and 54% report sending at least 31 biopsy specimens. Sixty percent of respondents did not recommend immediate colectomy for a confirmed finding of low-grade dysplasia, instead opting for repeat colonoscopy in 3 to 12 months. Physicians who took fewer biopsy specimens were more likely to recommend continued surveillance for low-grade dysplasia compared with those who took a greater number of biopsy specimens. Limitations included the response rate of 33% and the potential for recall bias. Most U.S. gastroenterologists are practicing surveillance in patients with ulcerative colitis in accordance with published guidelines. There is widespread variation in the management of dysplasia and raised lesions, and the majority of U.S. gastroenterologists do not recommend immediate colectomy for a finding of low-grade dysplasia.

Mesomelic skeletal dysplasias.

PubMed

Kaitila, I; Leisti, J T; Rimoin, D L

1976-01-01

Mesomelic shortening of the extremities lends itself as a useful clinical and/or radiologic sign to characterize a group of hereditary bone dysplasias. Table 1 and Figure 4 are presented to facilitate the comparison between the many different types of mesomelic dwarfism. Differential diagnosis between these types is not difficult because of the specific bone changes and extraskeletal malformations present. As in many hereditary syndromes, however, there may be wide clinical variability within a single entity, and meticulous clinical and radiologic examination must be done to arrive at the correct diagnosis. Certain other forms of chondrodystrophies, such as achondroplasia, hypochondroplasia, pseudoachondroplasia and distrophic dwarfism, can be easily differentiated from the mesomelic dysplasias by their clinical features and skeletal radiographs. Nothing is known about the pathogenesis of the various forms of mesomelic dysplasias. There is no available specific treatment, although corrective surgery has benefited selected patients. The correct diagnosis is, however, important both for prognostication and accurate genetic counseling.

Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.

PubMed

Ogul, Hayri; Keskin, Emine

2018-05-01

Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance.

Absent pedicles in campomelic dysplasia.

PubMed

McDowell, Michael M; Dede, Ozgur; Bosch, Patrick; Tyler-Kabara, Elizabeth C

2017-06-01

The objective of the present study is to report a case of campomelic dysplasia illustrating the absence of cervical and thoracic pedicles. This report reiterates the importance of this clinical peculiarity in the setting of spine instrumentation. A 10-year-old female patient with campomelic dysplasia presented with progressive kyphoscoliosis and signs of neural compromise. Imaging studies confirmed thoracic level stenosis and demonstrated absence of multiple pedicles in cervical and thoracic spine. The patient underwent decompression and instrumentation/fusion for her spinal deformity. The patient was instrumented between C2 and L4 with pedicle screws and sublaminar cables. However, pedicle fixation was not possible for the lower cervical and upper-mid thoracic spine. Also, floating posterior elements precluded the use of laminar fixation in the lower cervical spine. Cervicothoracic lumbosacral orthosis (CTLSO) was used for external immobilization to supplement the tenuous fixation in the cervicothoracic area. The patient improved neurologically with no signs of implant failure at the 2-year follow-up. Absence of pedicles and floating posterior elements present a challenge during spine surgery in campomelic dysplasia. Surgeons should prepare for alternative fixation methods and external immobilization when planning on spinal instrumentation in affected patients. Level IV Case Report.

Prosthodontic rehabilitation in patient with ectodermal dysplasia combining preprosthetic techniques: a case report.

PubMed

Pombo Castro, María; Luaces Rey, Ramón; Arenaz Búa, Jorge; Santana-Mora, Urbano; López-Cedrún Cembranos, José Luís

2013-10-01

Oral manifestations in ectodermal dysplasia include oligodontia, alveolar ridges hypoplasia, and others. Due to the special conditions in terms of unhealthy teeth and lack of bone, implant-supported rehabilitation seems to offer the most satisfactory outcome. A 27-year-old male diagnosed with ectodermal dysplasia was referred to our department for oral rehabilitation. Oral manifestations included oligodontia, maxillary and mandibular atrophy, mandibular alveolar ridge with knife-edge morphology, and conical teeth. Treatment planning consisted of a Le Fort I osteotomy with interpositional grafts, bilateral sinus lift, and placement of maxillary and mandibular inlay and onlay corticocancellous grafts, using autologous iliac crest bone. In the second surgery, all remaining teeth were removed and 11 endosteal implants were placed. Six months after implant placement, a bimaxillary fixed implant-supported prosthesis was delivered, maintaining a satisfactory esthetic and functional result after a 2-year follow-up. The use of combined preprosthetic techniques allows the placement of endosteal implants and a fixed implant-supported prosthesis in patients with oligodontia and ectodermal dysplasia, providing an esthetic and functional oral rehabilitation.

Advanced imaging technologies increase detection of dysplasia and neoplasia in patients with Barrett's esophagus: a meta-analysis and systematic review.

PubMed

Qumseya, Bashar J; Wang, Haibo; Badie, Nicole; Uzomba, Rosemary N; Parasa, Sravanthi; White, Donna L; Wolfsen, Herbert; Sharma, Prateek; Wallace, Michael B

2013-12-01

US guidelines recommend surveillance of patients with Barrett's esophagus (BE) to detect dysplasia. BE conventionally is monitored via white-light endoscopy (WLE) and a collection of random biopsy specimens. However, this approach does not definitively or consistently detect areas of dysplasia. Advanced imaging technologies can increase the detection of dysplasia and cancer. We investigated whether these imaging technologies can increase the diagnostic yield for the detection of neoplasia in patients with BE, compared with WLE and analysis of random biopsy specimens. We performed a systematic review, using Medline and Embase, to identify relevant peer-review studies. Fourteen studies were included in the final analysis, with a total of 843 patients. Our metameter (estimate) of interest was the paired-risk difference (RD), defined as the difference in yield of the detection of dysplasia or cancer using advanced imaging vs WLE. The estimated paired-RD and 95% confidence interval (CI) were obtained using random-effects models. Heterogeneity was assessed by means of the Q statistic and the I(2) statistic. An exploratory meta-regression was performed to look for associations between the metameter and potential confounders or modifiers. Overall, advanced imaging techniques increased the diagnostic yield for detection of dysplasia or cancer by 34% (95% CI, 20%-56%; P < .0001). A subgroup analysis showed that virtual chromoendoscopy significantly increased the diagnostic yield (RD, 0.34; 95% CI, 0.14-0.56; P < .0001). The RD for chromoendoscopy was 0.35 (95% CI, 0.13-0.56; P = .0001). There was no significant difference between virtual chromoendoscopy and chromoendoscopy, based on Student t test analysis (P = .45). Based on a meta-analysis, advanced imaging techniques such as chromoendoscopy or virtual chromoendoscopy significantly increase the diagnostic yield for identification of dysplasia or cancer in patients with BE. Copyright © 2013 AGA Institute. Published by

Early implant placement for a patient with ectodermal dysplasia: Thirteen years of clinical care.

PubMed

Knobloch, Lisa A; Larsen, Peter E; Saponaro, Paola C; L'Homme-Langlois, Emilie

2017-11-29

Patients with ectodermal dysplasia have abnormalities of 2 or more structures that originate from the ectoderm. The oral manifestations often include the congenital absence of teeth and malformed teeth. This clinical report describes the interdisciplinary care from childhood through the definitive dental rehabilitation completed at skeletal maturation to replace the missing teeth in a patient with ectodermal dysplasia. Treatment began at 9 years of age with an implant-assisted mandibular overdenture to improve function and replace the missing mandibular teeth. Orthodontic treatment for the consolidation of space, composite resin restorations, and interim removable dental prostheses were provided to improve esthetics and replace the missing maxillary teeth. Skeletal growth was monitored, and orthognathic surgery was performed at the cessation of growth. The definitive rehabilitation consisted of a mandibular fixed dental prosthesis supported by dental implants and a maxillary removable dental prosthesis to restore the patient to esthetics and function. Copyright © 2017 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

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.

Endoscopic Ultrasound in Barrett's Oesophagitis with Dysplasia

PubMed Central

Wray, Andrew; Rice, Paul; Love, Mark

2012-01-01

Purpose With the advent of conservative therapies including photodynamic therapy and endoscopic mucosal resection for Barrett's and high grade dysplasia, accurate staging has become increasingly important. We report our experience with endoscopic ultrasound (EUS) in these patients. Materials and Methods Retrospective review of 25 consecutive patients referred for EUS for assessment of Barrett's with high grade dysplasia and /or stricture or polyp. The findings were compared with subsequent surgical pathology, or endoscopy and biopsy follow up. Results Nine patients were found to have invasive tumour on EUS and this was confirmed in all 9 either by oesophagectomy, OGD and oncology follow up, or by endoscopic mucosal resection. Eight patients underwent oesophagectomy, 5 for invasive tumour and 3 for dysplasia only, with pathological agreement with EUS findings in 7 out of 8 cases. The one discrepancy was a EUS case of mucosal thickening only with no invasion, but pathology showed a T1 lesion. Thirteen patients with no evidence of invasion were managed conservatively, with 11 patients being followed up for 6-12 months with serial OGD and biopsy, and no cases of more invasive disease occurring. Therefore, in our experience the sensitivity, specificity and positive predictive value of EUS in complex Barrett's is 90%, 100% and 100% respectively. Conclusion EUS is valuable in the assessment of high grade dysplasia in cases where conservative therapy is being considered, defining those with more deeply invasive tumour for whom radical treatment is the only option. PMID:23526576

Expanding the phenome and variome of skeletal dysplasia.

PubMed

Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S; Mohamed, Jawahir Y; Alazami, Anas M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S; Hamad, Muddathir H; Salih, Mustafa A; Hamed, Ahlam A; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M H; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W T; Qasem, Abdullah; Mushiba, Aziza M; Zaki, Maha S; Fassad, Mahmoud R; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A; Amr, Khalda; Al Tala, Saeed; Khan, Arif O; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem; Singh, Ankur; Kapoor, Seema; Alhashem, Amal; Faqeih, Eissa; Shaheen, Ranad; Alkuraya, Fowzan S

2018-04-05

PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.ConclusionBy expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.GENETICS in MEDICINE advance online publication, 5 April 2018; doi:10.1038/gim.2018.50.

High Prevalence of Multiple Arterial Bed Lesions in Patients With Fibromuscular Dysplasia: The ARCADIA Registry (Assessment of Renal and Cervical Artery Dysplasia).

PubMed

Plouin, Pierre-François; Baguet, Jean-Philippe; Thony, Frédéric; Ormezzano, Olivier; Azarine, Arshid; Silhol, François; Oppenheim, Catherine; Bouhanick, Béatrice; Boyer, Louis; Persu, Alexandre; Hammer, Frank; Gosse, Philippe; Mounier-Vehier, Claire; Le Hello, Claire; Jeunemaitre, Xavier; Azizi, Michel; Amar, Laurence; Chatellier, Gilles; Mousseaux, Elie; Touzé, Emmanuel

2017-09-01

Fibromuscular dysplasia (FMD) commonly affects the renal and cervical arteries but has been described to affect other vascular beds as well. The prevalence of and clinical characteristics associated with multisite FMD (string-of-beds or focal stenoses affecting at least 2 vascular beds) are not known. In the prospective ARCADIA registry (Assessment of Renal and Cervical Artery Dysplasia), symptomatic patients with renal artery (RA) FMD underwent tomographic- or magnetic resonance-angiography from the aortic arch to the intracranial arteries and those with cervical FMD from the diaphragm to the pelvis. Of 469 patients (84.0% women), 225 (48.0%) had multisite FMD. In addition, 86 of 244 patients with single-site disease had dissections or aneurisms affecting other vascular beds, totaling 311 patients (66.3%) with lesions in >1 vascular bed. Among patients with a cerebrovascular presentation, the prevalence of RA lesions was higher in patients with than in those without hypertension (odds ratio, 3.4; 95% confidence interval, 1.99-6.15). Among patients with a renal presentation, the prevalence of cervical lesions was higher in patients with bilateral than in those with unilateral RA lesions (odds ratio, 1.9; 95% confidence interval, 0.99-3.57). In conclusion, FMD is a systemic arterial disease. At least 2 vascular beds were affected by dysplastic stenoses in 48.0% of cases and by dysplastic stenoses, aneurysms, and dissections in 66.1% of cases. RA imaging should be proposed to hypertensive patients with a cerebrovascular presentation. Cervical artery imaging should be considered in patients with a renal presentation and bilateral RA lesions. URL: www.Clinicaltrials.gov. Unique identifier: NCT02884141. © 2017 American Heart Association, Inc.

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

Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient.

PubMed

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

2015-09-01

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

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

The effect of orbital implantation on peripheral blood melatonin and sex hormone levels in child patients with congenital eyeball dysplasia.

PubMed

Ma, Junze; Liu, Tao; Qu, Jianqiang

2017-09-01

The aim of the study was to examine the effect of orbital implantation on peripheral blood melatonin and sex hormone levels in pediatric patients with congenital eyeball dysplasia. A total of 28 cases of pediatric patients with congenital eyeball dysplasia diagnosed in the Second Affiliated Hospital of Xi'an Jiaotong University from June 2014 to December 2014 were selected for the study. The patients included those that received orbital implantation, and the melatonin levels in the peripheral blood in patients before and after operation was observed. In addition, the sex hormone levels and T lymphocytes, plasma reactive oxygen species (ROS) and VEGF levels, urine 8-OHdG and 8-isoPGF2α levels in patients before and after treatment were detected, followed by statistical analysis. As a result, after 3 months of orbital implantation, the sex hormone levels in peripheral blood in child patients fluctuated significantly, and differences were not statistically significant (P>0.05). The peripheral blood T lymphocytes and ROS levels were significantly lower than those before treatment, and the differences were statistically significant (P<0.05). The correlation analysis revealed that the peripheral blood melatonin levels were negatively related to ROS levels; the correlation coefficient was rs = -0.481 and P<0.05. In conclusion, orbital implantation does not have significant impact on sex hormone levels in child patients with congenital eyeball dysplasia. The hydroxyapatite orbital implantation can achieve more satisfactory curative effects, and there are fewer postoperative complications. It does not affect the appearance of the eye, and therefore, it is suitable for patients with congenital eyeball dysplasia.

Subglottic stenosis in short-statured children: a case for further investigation of airway symptoms in patients with skeletal dysplasias.

PubMed

Lee, Jonathan H; Ellison, Jay W; Schears, Gregory J; Thompson, Dana M

2006-01-01

Clinical evaluation of children with skeletal dysplasias is often concentrated on morphologic and radiographic assessments, but many of these patients also have disease processes of the ear, nose, and throat. We report a case of an 11-month-old girl with an unknown short-limbed dwarfism, similar to acromicric dysplasia, with grade II subglottic stenosis. Laryngotracheoplasty with anterior autologous costal cartilage graft and posterior cricoid split was performed at age 13 months, with subsequent improvement of her airway status. In cases of children with skeletal dysplasias and obstructive airway symptoms, formal otolaryngologic evaluation is warranted for definitive diagnosis and treatment.

Ectodermal Dysplasia Associated with Sickle Cell Disease

PubMed Central

Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Álvaro Henrique

2014-01-01

Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses. PMID:25343049

Ectodermal dysplasia associated with sickle cell disease.

PubMed

Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique

2014-01-01

Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

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

PubMed

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

2015-01-01

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

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.

Respiratory problems in patients with ectodermal dysplasia syndromes.

PubMed

Fete, Timothy

2014-10-01

The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm- and mesoderm-derived tissues and appendages, particularly hair, skin, teeth, and nails. Many of these disorders are associated with a greater risk of respiratory disease than found in the general population. There are no published papers that comprehensively describe these findings and the possible etiologies. Patients have been reported with dramatic decrease in mucous glands in the respiratory tract. Anatomic defects, including cleft palate, that predispose to respiratory infection, are associated with several of the ED syndromes. Atopy and immune deficiencies have been shown to have a higher prevalence in ED syndromes. Clinicians who care for patients affected by ED syndromes should be aware of the potential respiratory complications, and consider evaluation for structural anomalies, atopy and immunodeficiency in individuals with recurrent or chronic respiratory symptoms. © 2014 Wiley Periodicals, Inc.

Tobacco smoking increases the risk of high-grade dysplasia and cancer among patients with Barrett's esophagus.

PubMed

Coleman, Helen G; Bhat, Shivaram; Johnston, Brian T; McManus, Damian; Gavin, Anna T; Murray, Liam J

2012-02-01

Esophageal adenocarcinoma arises from Barrett's esophagus (BE); patients with this cancer have a poor prognosis. Identification of modifiable lifestyle factors that affect the risk of progression from BE to esophageal adenocarcinoma might prevent its development. We investigated associations among body size, smoking, and alcohol use with progression of BE to neoplasia. We analyzed data from patients with BE identified from the population-based Northern Ireland BE register, diagnosed between 1993 and 2005 with specialized intestinal metaplasia (n = 3167). Data on clinical, demographic, and lifestyle factors related to diagnosis of BE were collected from hospital case notes. We used the Northern Ireland Cancer Registry to identify which of these patients later developed esophageal adenocarcinoma, adenocarcinomas of the gastric cardia, or esophageal high-grade dysplasia. Cox proportional hazards models were used to associate lifestyle factors with risk of progression. By December 31, 2008, 117 of the patients with BE developed esophageal high-grade dysplasia or adenocarcinomas of the esophagus or gastric cardia. Current tobacco smoking was significantly associated with an increased risk of progression (hazard ratio = 2.03; 95% confidence interval, 1.29-3.17) compared with never smoking, and across all strata of smoking intensity. Alcohol consumption was not related to risk of progression. Measures of body size were infrequently reported in endoscopy reports, and body size was not associated with risk of progression. Smoking tobacco increases the risk of progression to cancer or high-grade dysplasia 2-fold among patients with BE, compared with patients with BE that have never smoked. Smoking cessation strategies should be considered for patients with BE. Copyright © 2012 AGA Institute. Published by Elsevier Inc. All rights reserved.

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

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.

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.

Growth-sparing spinal instrumentation in skeletal dysplasia.

PubMed

Karatas, Ali F; Dede, Ozgur; Rogers, Kenneth; Ditro, Colleen P; Holmes, Laurens; Bober, Michael; Shah, Suken A; Mackenzie, William G

2013-11-15

Retrospective case series. To report the outcomes of distraction-based, growth-sparing spinal instrumentation in patients with skeletal dysplasia. Patients with skeletal dysplasia with spinal deformity often undergo early fusion, further compromising an already small chest. Nonfusion techniques may provide a safe alternative and allow for thoracic growth. Between 2004 and 2010, 12 children with a diagnosis of various types of skeletal dysplasia underwent growth-sparing spinal instrumentation for severe spinal deformities. The mean duration of treatment with growing rods was 57 months (42-84 mo). Nine patients were treated with growing rods (8 dual, 1 single), and 3 were treated with vertical expandable prosthetic titanium rib (VEPTR; Synthes). Preoperative, initial postoperative, and final follow-up anteroposterior and lateral spine radiographs were measured for magnitude of deformity, junctional kyphosis, and implant failure. The major curve Cobb angle improved from a mean of 79° preoperatively to a mean of 41° at the last follow-up (52%). There was a decrease in mean thoracic kyphosis from 77° preoperatively to 64° at final follow-up and an increase in mean lumbar lordosis from 58° preoperatively to 63° at final follow-up. The mean space available for the lungs increased by 26 mm on the concave and 24 mm on the convex side. Six patients required revision surgery for proximal junctional kyphosis. There were 4 rod failures and 6 hook and 8 screw dislodgements. One patient with vertical expandable prosthetic titanium rib had failed rib fixation that required revision. Growth-sparing spinal instrumentation in patients with skeletal dysplasia and severe spinal deformity has a high complication and revision rate, and surgeons should closely monitor these patients. The complication rate is comparable with previous reports on patients with other diagnoses. However, deformities were well controlled, some trunk growth was achieved, and fusion surgery was delayed in

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

Cystic fibrous dysplasia in the long bone.

PubMed

Bahk, Won-Jong; Kang, Yong-Koo; Rhee, Seung-Koo; Chung, Yang-Guk; Lee, An-Hee; Bahk, Yong-Whee

2007-10-01

Prominent osteolysis associated with "ground glass" density of fibrous dysplasia may indicate cystic change or sarcomatous transformation. This complication has been reported only sporadically in the long bones. This article presents clinical, radiographic, and pathologic findings, and outcome of simple curettage and bone graft observed in a series of 8 patients with prominent cystic fibrous dysplasia of the long bone. Magnetic resonance imaging features provide a basis for separation of benign cystic change from malignant transformation. However, biopsy is necessary to distinguish nonspecific cystic degeneration from secondary aneurysmal bone cyst. Simple curettage with allo-chip-bone graft is an effective treatment for cystic fibrous dysplasia.

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. The aim of this study was develop a consensus on how to improve the management of patients with fibrous dysplasia and prioritize areas for research METHODS: An international workshop was held over 3 days involving patients, clinicians, and researchers. Each day had a combination of formal presentations and facilitated discussions that focused on clinical pathways and research. The patient workshop day highlighted the variability of patients' experience in getting a diagnosis, the knowledge of general clinical staff, and understanding long-term outcomes. The research workshop prioritized collaborations that improved understanding of the contemporary natural history of fibrous dysplasia/McCune-Albright syndrome (FD/MAS). The clinical workshop outlined the key issues around diagnostics, assessment of severity, treatment and monitoring of patients. In spite of advances in understanding the genetic and molecular underpinnings of fibrous dysplasia/McCune-Albright syndrome, clinical management remains a challenge. From the workshop, a consensus was reached to create an international, multi-stakeholder partnership to advance research and clinical care in FD/MAS. We invite other stakeholders to join the partnership.

Endoscopic Endonasal Optic Nerve Decompression for Fibrous Dysplasia

PubMed Central

DeKlotz, Timothy R.; Stefko, S. Tonya; Fernandez-Miranda, Juan C.; Gardner, Paul A.; Snyderman, Carl H.; Wang, Eric W.

2016-01-01

Objective To evaluate visual outcomes and potential complications for optic nerve decompression using an endoscopic endonasal approach (EEA) for fibrous dysplasia. Design Retrospective chart review of patients with fibrous dysplasia causing extrinsic compression of the canalicular segment of the optic nerve that underwent an endoscopic endonasal optic nerve decompression at the University of Pittsburgh Medical Center from 2010 to 2013. Main Outcome Measures The primary outcome measure assessed was best-corrected visual acuity (BCVA) with secondary outcomes, including visual field testing, color vision, and complications associated with the intervention. Results A total of four patients and five optic nerves were decompressed via an EEA. All patients were symptomatic preoperatively and had objective findings compatible with compressive optic neuropathy: decreased visual acuity was noted preoperatively in three patients while the remaining patient demonstrated an afferent pupillary defect. BCVA improved in all patients postoperatively. No major complications were identified. Conclusion EEA for optic nerve decompression appears to be a safe and effective treatment for patients with compressive optic neuropathy secondary to fibrous dysplasia. Further studies are required to identify selection criteria for an open versus an endoscopic approach. PMID:28180039

Management of high-grade dysplasia in Barrett's esophagus.

PubMed

Palley, S L; Sampliner, R E; Garewal, H S

1989-08-01

When Barrett's esophagus is complicated by adenocarcinoma, surgery is indicated in appropriate patients. Until now, high-grade dysplasia in Barrett's esophagus has been managed in a similar fashion. We explore this approach and review reported cases of high-grade dysplasia to suggest guidelines for collection of data to make future clinical decisions more rational.

Characteristic findings of cervical Papanicolaou tests from transgender patients on androgen therapy: Challenges in detecting dysplasia.

PubMed

Adkins, B D; Barlow, A B; Jack, A; Schultenover, S J; Desouki, M M; Coogan, A C; Weiss, V L

2018-02-28

The characteristic features of Papanicolaou (Pap) tests collected from female-to-male (FTM) transgender patients on androgen therapy have not been well defined in the literature. FTM transgender patients require cervical cancer screening with the same recommended frequency as cis-gender females. Dysplasia remains challenging to differentiate from atrophy. Without pertinent history, the atrophic findings in younger transgender patients can be misinterpreted as high-grade dysplasia. A review of all cervical Pap tests of transgender patients receiving androgen therapy (2010-2017) was performed. Bethesda diagnosis, cytomorphological features, HPV testing and cervical biopsy results were reviewed. Eleven transgender patients receiving androgen therapy were identified with 23 cervical Pap tests, 11 HPV tests and five cervical biopsies performed. A review of the Pap tests demonstrated: 57% negative for intraepithelial lesion; 13% unsatisfactory; 13% atypical squamous cells of undetermined significance; 13% atypical squamous cells - cannot exclude high-grade squamous intraepithelial lesion; and 4% high-grade squamous intraepithelial lesion. The rates of abnormal tests were higher than our age-matched cis-gender atrophic cohort rates of unsatisfactory (0.5%), atypical squamous cells of undetermined significance (7%), atypical squamous cells-cannot exclude high-grade squamous intraepithelial lesion (0%) and high-grade squamous intraepithelial lesion (0.5%). The cytological findings from liquid-based preparations included dispersed and clustered parabasal-type cells, scattered degenerated cells, smooth evenly dispersed chromatin, and occasional mild nuclear enlargement and irregularity. Dysplastic cells had larger nuclei, hyperchromatic clumped chromatin, and more irregular nuclear contours. The evaluation of dysplasia can be challenging on Pap tests from transgender patients on androgen therapy. The cohort evaluated had higher rates of unsatisfactory and abnormal Pap tests

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

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.

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.

Treatment of oral dysplasia with 5% imiquimod cream: short communication.

PubMed

Mullins, R; Ansell, M; Laverick, S

2016-11-01

We report what we think is the first treatment of oral dysplasia with 5% imiquimod cream. A 60-year-old man presented with varying degrees of dysplasia on the soft palate. A cover plate was fabricated and the patient was prescribed 5% imiquimod cream, a topical imunomodulator, for six weeks. The lesion improved and histological examination of an incisional biopsy found no features of dysplasia. This case highlights the efficacy of imiquimod cream in the treatment of dysplasia, and the need for development of a preparation suitable for the oral mucosa. Copyright © 2016. Published by Elsevier Ltd.

The patellofemoral joint: from dysplasia to dislocation

PubMed Central

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

2017-01-01

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 PMID:28630757

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

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 andmore » 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.« less

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

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.

Occipitocervical fusion in skeletal dysplasia: a new surgical technique.

PubMed

Sitoula, Prakash; Mackenzie, William G; Shah, Suken A; Thacker, Mihir; Ditro, Colleen; Holmes, Laurens; Campbell, Jeffrey W; Rogers, Kenneth J

2014-07-01

Retrospective cohort study. This study describes clinical and radiological results of a new cable technique for occipitocervical fusion (OCF) in children with skeletal dysplasia (SD). Anatomical variability and poor bone quality make upper cervical surgery technically challenging in patients with SD. We present a new cable technique for OCF in children with SD when the posterior elements are not of a size or quality for other types of instrumentation. Retrospective review of 24 patients with SD (8 boys, 16 girls) who underwent OCF between 2001 and 2011. In this technique, cables provide compression across a bone graft that is prevented from entering the canal and the graft resists excessive lordosis. Demographic and radiographical data are presented. All patients were followed for initial outcomes of surgery, and 20 patients (83%) were followed for 2 years or more for mid- and long-term outcomes. Mean age at surgery was 6.5 years and mean follow-up was 4.1 ± 2.4 years. This technique was used as a primary procedure in 20 and a revision procedure in 4 patients. Diagnoses included Morquio syndrome (6), spondyloepiphyseal dysplasia (9), spondyloepimetaphyseal dysplasia (5), metatropic dysplasia (3), and Kniest syndrome (1). Ten patients had upper cervical instability and features of cervical myelopathy, and the remaining 14 patients had instability and signal changes on magnetic resonance image. Fusion extended from occiput to C2 in 71% patients, and upper cervical decompression was needed in 92% patients. Postoperatively, all patients were immobilized in a halo vest for mean duration of 12 weeks. Fusion was achieved in all patients. Complications included halo pin-tract infections (7), junctional instability (2), and extension of fusion (4). This new cable technique is a good alternative for OCF in patients with SD who have altered anatomy at the craniocervical junction not amenable to rigid internal fixation. 4.

Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.

PubMed

Kantaputra, P; Kaewgahya, M; Jotikasthira, D; Kantaputra, W

2014-04-01

We report on three novel (IVS2+1G>A splice site, c.1066G>T, and c.1039G>T, and one previously reported (c.637G>A) WNT10A mutations in three patients affected with odonto-onycho-dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar keratoderma, and hyperhidrosis of palms and soles. The novel IVS+1G>A splice site mutation is predicted to cause significant protein alteration. The other novel mutations we found including c.1066G>T and c.1039G>T are predicted to cause p.Gly356Cys and p.Glu347X, respectively. Barrel-shaped mandibular incisors and severe hypodontia appear to be associated with homozygous or compound heterozygous mutations of WNT10A. The name "tricho-odonto-onycho-dermal dysplasia" is suggested to replace "odonto-onycho-dermal dysplasia" because hair anomalies including hypotrichosis and slow-growing hair have been reported in numerous reported patients with this syndrome. © 2014 Wiley Periodicals, Inc.

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.

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.

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.

The management of ectodermal dysplasia and severe hypodontia. International conference statements.

PubMed

Hobkirk, J A; Nohl, F; Bergendal, B; Storhaug, K; Richter, M K

2006-09-01

An international conference on ectodermal dysplasias and hypodontia, held in London in 2004, featured a session devoted to the management of the ectodermal dysplasias and severe hypodontia. This paper presents a set of statements prepared by an international specialist panel, including representatives of patient support groups, who presented and subsequently debated a series of papers on this subject. The following topics were explored: potential roles of patient support groups; core care standards, including the roles and composition of medical and dental multidisciplinary teams for treating these conditions; the format of a baseline data set for patients with an ED; and priorities for research in ectodermal dysplasias, with particular regard to laboratory and clinical studies, and research methodology. The statements are intended to form an international framework for developing patient care pathways, and collaborative research in this field.

Use and barriers to chromoendoscopy for dysplasia surveillance in inflammatory bowel disease.

PubMed

Shukla, Richa; Salem, Mark; Hou, Jason K

2017-08-16

Traditionally, patients with inflammatory bowel disease (IBD) have been thought to be at increased risk of developing colitis-associated colorectal cancer. Although there are recent data suggesting that rates of colitis-associated cancer in IBD patients is declining, current guidelines still recommend regular dysplasia surveillance for early detection and prevention of neoplasia in patients with IBD. White-light endoscopy with random biopsies has been the traditional approach for dysplasia detection; however, newer technologies and approaches have emerged. One method, dye-based chromoendoscopy, has the potential to detect more dysplasia. However, longitudinal data to showing a benefit in morbidity or mortality from the use of chromoendoscopy are still lacking. Many societies have included recommendation on the use of chromoendoscopy with targeted biopsies as a method of surveillance for colitis - associated colorectal cancer. This narrative review seeks to outline data on dysplasia detection as well as barriers to the implementation of dye-based chromoendoscopy for the prevention and early detection of colitis-associated colorectal cancer.

Familial ectodermal dysplasia: a peers' agony.

PubMed

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

2013-07-23

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

Pregnancy and mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia).

PubMed

Radetskaya, L S; Makatsariya, A D; Bitsadze, V O; Khizroeva, J K

2018-07-01

The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. The pathogenesis of mesenchymal dysplasias is not currently well understood. For the patients with mesenchymal dysplasias pregnancy is fraught with high risk of life-threatening complications. The preferred delivery method for such patients is caesarean section.

Actinic cheilitis: clinicopathologic profile and association with degree of dysplasia.

PubMed

de Santana Sarmento, Dmitry José; da Costa Miguel, Márcia Cristina; Queiroz, Lélia Maria Guedes; Godoy, Gustavo Pina; da Silveira, Ericka Janine Dantas

2014-04-01

Actinic cheilitis (AC) is a potentially malignant disorder of the lip caused by exposure to solar radiation. This study was conducted to evaluate the clinicopathologic profile of cases of AC and to verify associations with the degree of dysplasia. This retrospective study analyzed data for 40 patients with AC. Demographic, clinical, and histopathologic data were evaluated. Sections measuring 5 μm in thickness were cut, deparaffinized, and stained with hematoxylin and eosin for histologic examination. The degree of epithelial dysplasia was graded using the criteria defined by the World Health Organization. Two calibrated oral pathologists analyzed the slides. Analysis of the AC patients sampled showed that 75.0% were male (P=0.002), 80.0% were aged≥40 years (P<0.001), 74.3% were Caucasian (P=0.004), and 68.6% had occupational exposure to sunlight (P=0.028). The most common clinical manifestation was white lesions (55.0%), and 40.0% of patients had no dysplasia. No significant associations emerged between the histologic grading of AC and gender (P=1.000), age (P=1.000), ethnicity (P=0.416), occupational exposure to sunlight (P=1.000), and clinical presentation (P=0.467). The degree of dysplasia in AC was not statistically associated with gender, age, ethnicity, occupational exposure to sunlight, or clinical appearance. This study provides some support for the hypothesis that clinicopathologic features are not related to the degree of dysplasia in AC. © 2013 The International Society of Dermatology.

Axial correction of the lower limb deformities in a girl with anauxetic dysplasia.

PubMed

Kenis, Vladimir; Grill, Franz; Al Kaissi, Ali

2014-06-01

Valgus subtrochanteric osteotomies and hemiepiphyseodesis around the knees have been performed to correct severe coxa vara and genua valga in a girl patient who manifested extreme dwarfism associated with spondylometaepiphyseal dysplasia consistent with anauxetic dysplasia. To the best of our knowledge, this is the first description of the combined orthopaedic intervention in a girl with anauxetic dysplasia.

Keratoprosthesis in Ectodermal Dysplasia.

PubMed

Wozniak, Rachel A F; Gonzalez, Mithra; Aquavella, James V

2016-07-01

To describe the complex surgical management and novel medical approach for a keratoprosthesis (KPro Boston type I) in a monocular, 73-year-old patient with ectodermal dysplasia and chronic, noninfectious corneal necrosis. Best-corrected visual acuity (BCVA) was measured with Snellen letters. Surgical intervention included an amniotic membrane graft, complete replacement of the KPro, conjunctival flap graft, corneal donor tissue grafts combined with inferior rectus muscle advancement, periosteal tissue graft, tarso-conjunctival flap construction, and symblepharolysis. Infliximab was used as a medical adjunctive therapy. Initial KPro placement provided a BCVA of 20/25 and long-term stability. Subsequent chronic melting at the optic border necessitated numerous surgeries to prevent extrusion and failure. Ultimate fistulization was addressed with the formation of a surgical pocket. The addition of infliximab promoted ocular surface stability, and the patient has maintained a BCVA of 20/80. Ectodermal dysplasia can result in eyelid and corneal abnormalities, requiring a KPro for visual restoration. In the setting of chronic, sterile corneal melt, novel surgical approaches and the off-label use of infliximab allowed for visual rehabilitation.

Longitudinal outcomes of radiofrequency ablation versus surveillance endoscopy for Barrett's esophagus with low-grade dysplasia.

PubMed

Kahn, A; Al-Qaisi, M; Kommineni, V T; Callaway, J K; Boroff, E S; Burdick, G E; Lam-Himlin, D M; Temkit, M; Vela, M F; Ramirez, F C

2018-04-01

Radiofrequency ablation of Barrett's esophagus with low-grade dysplasia is recommended in recent American College of Gastroenterology guidelines, with endoscopic surveillance considered a reasonable alternative. Few studies have directly compared outcomes of radiofrequency ablation to surveillance and those that have are limited by short duration of follow-up. This study aims to compare the long-term effectiveness of radiofrequency ablation versus endoscopic surveillance in a large, longitudinal cohort of patients with Barrett's esophagus, and low-grade dysplasia.We conducted a retrospective analysis of patients with confirmed low-grade dysplasia at a single academic medical center from 1991 to 2014. Patients progressing to high-grade dysplasia or esophageal adenocarcinoma within one year of index LGD endoscopy were defined as missed dysplasia and excluded. Risk factors for progression were assessed via Cox proportional hazards model. Comparison of progression risk was conducted using a Kaplan-Meier analysis. Subset analyses were conducted to examine the effect of reintroducing early progressors and excluding patients diagnosed prior to the advent of ablative therapy. Of 173 total patients, 79 (45.7%) underwent radiofrequency ablation while 94 (54.3%) were untreated, with median follow up of 90 months. Seven (8.9%) patients progressed to high-grade dysplasia or adenocarcinoma despite ablation, compared with 14 (14.9%) undergoing surveillance (P = 0.44). This effect was preserved when patients diagnosed prior to the introduction of radiofrequency ablation were excluded (8.9% vs 13%, P = 0.68). Reintroduction of patients progressing within the first year of follow-up resulted in a trend toward significance for ablation versus surveillance (11.1% vs 23.8%, P = 0.053).In conclusion, progression to high-grade dysplasia or adenocarcinoma was not significantly reduced in the radiofrequency ablation cohort when compared to surveillance. Despite recent studies

Risk Factors for Dysplasia in Recurrent Respiratory Papillomatosis in an Adult and Pediatric Population.

PubMed

Karatayli-Ozgursoy, Selmin; Bishop, Justin Avery; Hillel, Alexander; Akst, Lee; Best, Simon R A

2016-03-01

Recurrent respiratory papillomatosis (RRP) is classically described as a benign neoplasm of the larynx caused by the low-risk human papillomavirus (HPV) viral subtypes. Nevertheless, transformation to dysplasia and invasive carcinoma can occur. We aimed to assess the prevalence of dysplasia and carcinoma-ex-papilloma in both adult-onset and juvenile-onset RRP and identify patient risk factors for this dysplastic transformation. Ten-year retrospective chart review of a tertiary otolaryngology referral center. Patients with papilloma were identified from a review of a pathology database and clinical records. Patient demographics, pathologic data, and treatment history, including use of cidofovir as an adjunctive therapy for papilloma, were extracted from electronic medical records. One hundred fifty-nine RRP patients were identified, 96 adult-onset (AORRP) and 63 juvenile-onset (JORRP) cases. Of this cohort, 139 (87%) had only benign papilloma as a pathologic diagnosis. In the AORRP cohort, 10 patients (10%) were diagnosed with dysplasia or carcinoma in situ in addition to papilloma, and 5 patients (5%) had malignant transformation to invasive carcinoma-ex-papilloma. There was a significantly higher age of disease onset for those with dysplasia or carcinoma versus those without dysplasia or carcinoma (56 vs 45 years old; P = .0005). Of the 63 JORRP patients, there were no cases of dysplasia but 3 (5%) cases of invasive carcinoma-ex-papilloma, all involving pulmonary disease. The JORRP patients with carcinoma-ex-papilloma had a younger average disease onset (2 vs 6 years old; P = .009) and a higher rate of tracheal involvement than those without carcinoma. Gender, smoking history, number of operations, or use of cidofovir showed no association with the development of dysplasia or carcinoma-ex-papillomatosis in either the AORRP or JORRP population. In a large series of RRP, age of disease onset is the strongest predictor of dysplastic transformation in the adult and

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.

[Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood].

PubMed

Lücke, Thomas; Kanzelmeyer, Nele; Franke, Doris; Hartmann, Hans; Ehrich, Jochen H H; Das, Anibh M

2006-03-15

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystemic disorder caused by mutations of the SMARCAL 1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). Main clinical features are: disproportional growth deficiency due to spondyloepiphyseal dysplasia, nephrotic syndrome with focal and segmental glomerulosclerosis, and defective cellular immunity. Patients with severe SIOD have life-limiting complications like cerebral ischemia due to vaso-occlusive processes. Only a few patients reached adulthood. The clinical course of four adult SIOD patients is presented. Even patients with severe SIOD can reach adulthood. Therefore, doctors working in the field of internal medicine and family doctors should be familiar with the clinical picture of SIOD.

Pubic Hair Shaving Is Correlated to Vulvar Dysplasia and Inflammation: A Case-Control Study

PubMed Central

Malik, Eduard

2017-01-01

Objective The risk factors for vulvar dysplasia and infections are not fully known. In this study, we aimed to investigate the correlation between pubic hair shaving and the occurrence of vulvar inflammation, dysplasia, and cancer. Methods This study was performed between January 2013 and December 2016 in which a standardized questionnaire concerning genital hair shaving was administered to vulvar dysplasia and cancer patients and healthy participants. The presence of human papilloma virus (HPV) infection and the occurrence of genital inflammation were documented. Results We recruited 49 patients with vulvar dysplasia or cancer and 234 healthy women as a control group. Smoking, HPV infection, genital inflammation, and complete pubic hair removal were significantly more common in the vulvar dysplasia/cancer group. Pubic hair shaving per se presented a clear association with vulvar dysplasia/cancer. Shaving the labia majora in particular showed also an association. Conclusion Our findings suggest that partial or complete pubic hair shaving using a razor is correlated with and could be a potential risk factor for the development of genital inflammation, vulvar dysplasia, and malignancies. These results need to be confirmed in larger studies. HPV status and genital inflammation should be documented by medical personnel. PMID:29104417

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. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Rasmussen's encephalitis presenting as focal cortical dysplasia

PubMed Central

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

2014-01-01

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

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.

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

PubMed

Tiedemann Svendsen, Mathias; Henningsen, Emil; Hertz, Jens Michael; Vestergaard Grejsen, Dorthe; Bygum, Anette

2014-09-01

Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database.

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

PubMed

Stafeev, А А

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.

Papillary bile duct dysplasia in primary sclerosing cholangitis.

PubMed

Ludwig, J; Wahlstrom, H E; Batts, K P; Wiesner, R H

1992-06-01

A 62-year-old man with a 20-year history of chronic ulcerative colitis and a 9-year history of primary sclerosing cholangitis (PSC) underwent orthotopic liver transplantation because of symptoms related to PSC and cholangiographic features compatible with a biliary neoplasm. Study of the excised liver revealed papillary mucosal lesions in the common hepatic duct and the right and left hepatic ducts as well as cholangiectases and other features typically associated with PSC. The papillary lesions consisted of abundant fibrovascular stroma covered by biliary epithelium with low-grade and high-grade dysplasia. Some periductal glands were also dysplastic. These features distinguished papillary dysplasia from classic biliary papillomatosis. Only one focus of microinvasion was found; there were no metastases. Among 60 cases of PSC in whom the entire liver could be studied after orthotopic liver transplantation, this was the only instance of unequivocal dysplasia. However, in one specimen, papillary hyperplasia was found. Detailed macroscopic and microscopic rereview of 23 livers from our patients with the longest history of PSC (range, 5-24 years) failed to reveal any additional cases with dysplasia. It is concluded that (a) papillary mucosal lesions in PSC may represent papillary dysplasia without invasion; (b) these lesions may evolve from papillary hyperplasia; (c) the process may be largely, if not entirely, in situ; and (d) the prevalence of dysplasia and carcinoma of bile ducts may be less than the 7%-9% reported in the literature for malignancies associated with PSC.

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.

Prenatal diagnosis of boomerang dysplasia.

PubMed

Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

2003-10-01

Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.

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.

Surgery of the head and neck in patient with Kniest dysplasia: Is wound healing an issue?

PubMed

Husain, Qasim; Cho, Jungsuk; Neugarten, Jay; Modi, Vikash K

2017-02-01

Kniest dysplasia is a type II collagen disorder that arises from a genetic mutation of the COL2A1 gene that results in short stature, midface anomalies, tracheomalacia, and hearing loss. Disruption of the normal collagen pathway can lead to many changes given its critical role in the body, and can cause complications with respect to wound healing. We present a case in which a patient with Kniest dysplasia successfully underwent multiple procedures in the head and neck region including cochlear implantation, mandibular distraction, palatoplasty, and laryngotracheal reconstruction. All procedures did not have any associated complications with respect to wound healing, indicating that surgery in this population can take place as indicated and surgery should not be contraindicated or delayed. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

[Interrelationship between lower limb varicosity, the grade of connective tissue dysplasia and atrial fibrillation in patients with coronary artery disease].

PubMed

Forster, O V; Tsarev, O A; Shvarts, Iu G

2006-01-01

To determine interrelationship between lower limb varicosity, the clinical grade of non-differentiated dysplasia of the connective tissue and atrial fibrillation in patients with coronary artery disease (CAD). Altogether 156 coronary patients were examined. Persistent atrial fibrillation was present in 58 and chronic in 38 patients. The reference group comprised 60 patients without evident rhythm disorders in persons suffering from CAD. Markers of connective tissue dysplasia () were revealed on the part of the skeleton, joints skin and visceral organs. Lower limb varicosity was recorded as well. The number of the stigmas in the study groups was different. So, in the patient group without rhythm disorders, the mean number of the stigmas was equal to 3, which is a variant of normal. In the groups with persistent and constant AF, this indicator was equal to 4.7 and 5.2 respectively (p<0.05). The number of patients with evident signs of CID (the number of stigmas 5) was greater in the groups with AP than among patients with normal rhythm. Varicosity was recorded in 41% of both group patients. It is to be noted that in the group with normal rhythm, lower limb varicosity was encountered in 22.1% of cases whereas in the group with AF, in 58.4% of cases with persistent AF and in 41% of cases with constant AF. The mean number of stigmas in the group without varicosity accounted for 3.6 and in patients with varicosity - for 5 (P<0.05). When coronary artery disease is coupled with atrial fibrilation there is a direct close correlation between the signs of connective tissue dysplasia and lower limb varicosity. In patients with persistent AF lower limb varicosity occurs more frequently than in CAD patients with normal rhythm.

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

2017-12-01

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.

Cervical deciduosis imitating dysplasia.

PubMed

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

2015-09-22

Ectopic cervical deciduosis is generally an accidental finding during pregnancy, and usually presents without any symptoms or need for therapeutic intervention. However, it can sometimes imitate dysplasia or carcinoma. We report a case of a 34-year-old G2P0, with a history of cervical dysplasia, presenting at 11 weeks of gestation, with vaginal blood loss. During examination, lesions mimicking dysplasia were found on the cervix. Histological examination reported cervical deciduosis. Deciduosis is a benign change during pregnancy and will resolve spontaneously. With the increasing use of cytology and colposcopy, the reported incidence is growing. When it is hard to differentiate between dysplasia and deciduosis, histological confirmation should be considered. 2015 BMJ Publishing Group Ltd.

Cervical deciduosis imitating dysplasia

PubMed Central

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

2015-01-01

Ectopic cervical deciduosis is generally an accidental finding during pregnancy, and usually presents without any symptoms or need for therapeutic intervention. However, it can sometimes imitate dysplasia or carcinoma. We report a case of a 34-year-old G2P0, with a history of cervical dysplasia, presenting at 11 weeks of gestation, with vaginal blood loss. During examination, lesions mimicking dysplasia were found on the cervix. Histological examination reported cervical deciduosis. Deciduosis is a benign change during pregnancy and will resolve spontaneously. With the increasing use of cytology and colposcopy, the reported incidence is growing. When it is hard to differentiate between dysplasia and deciduosis, histological confirmation should be considered. PMID:26396123

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

PubMed

Rachmiel, Adi; Turgeman, Shahar; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-02-01

Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation.

Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.

PubMed

Sharma, Gaurav; Nagpal, Archna

2017-01-01

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC.

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.

BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency.

PubMed

Darbinyan, Armine; Major, Eugene O; Morgello, Susan; Holland, Steven; Ryschkewitsch, Caroline; Monaco, Maria Chiara; Naidich, Thomas P; Bederson, Joshua; Malaczynska, Joanna; Ye, Fei; Gordon, Ronald; Cunningham-Rundles, Charlotte; Fowkes, Mary; Tsankova, Nadejda M

2016-07-13

Human BK polyomavirus (BKV) is reactivated under conditions of immunosuppression leading most commonly to nephropathy or cystitis; its tropism for the brain is rare and poorly understood. We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) due to IKK-gamma (NEMO) mutation, who developed progressive neurological symptoms. Brain biopsy demonstrated polyomavirus infection of gray and white matter, with predominant involvement of cortex and distinct neuronal tropism, in addition to limited demyelination and oligodendroglial inclusions. Immunohistochemistry demonstrated polyoma T-antigen in neurons and glia, but expression of VP1 capsid protein only in glia. PCR analysis on both brain biopsy tissue and cerebrospinal fluid detected high levels of BKV DNA. Sequencing studies further identified novel BKV variant and disclosed unique rearrangements in the noncoding control region of the viral DNA (BKVN NCCR). Neuropathological analysis also demonstrated an unusual form of obliterative fibrosing vasculopathy in the subcortical white matter with abnormal lysosomal accumulations, possibly related to the patient's underlying ectodermal dysplasia. Our report provides the first neuropathological description of HED-ID due to NEMO mutation, and expands the diversity of neurological presentations of BKV infection in brain, underscoring the importance of its consideration in immunodeficient patients with unexplained encephalopathy. We also document novel BKVN NCCR rearrangements that may be associated with the unique neuronal tropism in this patient.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

PubMed

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner.

PubMed

Halai, Tina; Stevens, Claire

2015-10-01

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

Photodynamic therapy with Photofrin followed by thermal ablation for elimination of dysplasia and early cancer in Barrett's esophagus: follow-up in 100 patients

NASA Astrophysics Data System (ADS)

Panjehpour, Masoud; Overholt, Bergein F.; Haydek, John M.

1998-05-01

Photodynamic therapy (PDT) using Photofrin and 630 nm laser light was used to treat 100 Barrett's esophagus patients with dysplasia and early cancer. Twelve patients had superficial esophageal cancers (T1-T2, NO, MO). Laser light was delivered to the esophageal mucosa by cylindrical diffuser inserted through the endoscope or via a 3, 5 or 7 cm windowed esophageal centering balloons. Nd:YAG laser ablation was used on small residual islands of Barrett's mucosa during long term follow-up after PDT. Patients were maintained on omeprazole and were followed for 6 - 84 months following photodynamic therapy. Photodynamic therapy produced destruction of normal, dysplastic and malignant mucosa in treated areas. Approximately 75 - 80% of treated Barrett's mucosa healed as normal squamous epithelium in all patients. Complete elimination of Barrett's epithelium was found in 43 patients. Nd:YAG laser was required to ablate small residual areas of Barrett's mucosa in 35 of these patients. Dysplasia was eliminated in 77 patients. Ten of the 12 malignancies were ablated with no recurrence being found during follow-up. Healing was associated with esophageal strictures in 34% but after using the 5 and 7 cm balloons, the incidence of strictures decreased to 18%. All strictures were treated successfully by dilation. In summary, PDT alone or combined with Nd:YAG laser ablation, in conjunction with long-term acid inhibition provides an effective endoscopic treatment to eliminate dysplasia and superficial cancer in Barrett's patients, and reduce the amount of or eliminate Barrett's mucosa completely.

Focal cortical dysplasias: surgical outcome in 67 patients in relation to histological subtypes and dual pathology.

PubMed

Fauser, Susanne; Schulze-Bonhage, Andreas; Honegger, Juergen; Carmona, Hans; Huppertz, Hans-Juergen; Pantazis, Georgios; Rona, Sabine; Bast, Thomas; Strobl, Karl; Steinhoff, Bernhard J; Korinthenberg, Rudolf; Rating, Dietz; Volk, Benedikt; Zentner, Josef

2004-11-01

The purpose of this study was to assess whether the histological subtype of focal cortical dysplasia and dual pathology affect surgical outcome in patients with medically intractable epilepsy due to focal cortical dysplasia (FCD). We retrospectively analysed the outcome of 67 patients from 2 to 66 years of age at follow-up periods of 6 to 48 months after epilepsy surgery. Histological subtypes were classified according to Palmini and included a few cases with mild histological abnormalities corresponding to the definition of mild malformations of cortical development. The seizure outcome was classified according to Engel and evaluated at the last follow-up visit as well as at follow-up periods of 12 and 24 months after surgery. The outcome in patients with FCD and additional hippocampal pathology (dual pathology) was analysed separately. Distribution of histological subtypes differed in temporal and extratemporal localization, with a significantly higher extratemporal prevalence of FCD type 2. There was a tendency towards better postsurgical outcome related to the last follow-up visit in patients with more subtle abnormalities classified as mild malformations of cortical development (mMCD) (63% Engel Ia), FCD type 1a (67% Engel Ia) and FCD type 1b (55% Engel Ia) compared with patients with FCD type 2a (43% Engel Ia) and FCD type 2b (Taylor type) (50% Engel Ia). Considering the outcome at follow-up periods over 12 and 24 months, complete seizure-freedom was achieved significantly more often in patients with FCD type 1 and mMCD than with FCD type 2, and seizure reduction by less than 75% (Engel IV) occurred in more patients with FCD type 2a compared with the other subgroups. This tendency was seen in the whole patient group and in the extratemporal subgroup. Patients with dual pathology almost always had temporal lobe epilepsy; the outcome in this patient group was generally favourable (66% complete seizure-freedom at the last follow-up visit). The outcome remained

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

PubMed Central

Rachmiel, Adi; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-01-01

Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Methods: Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Results: Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. Conclusions: We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation. PMID:29616174

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

PubMed

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

1993-02-01

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

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kaitila, I.; Marttinen, E.; Koerkkoe, J.

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 withmore » 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.« less

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.

Detection of intestinal dysplasia using angle-resolved low coherence interferometry

NASA Astrophysics Data System (ADS)

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

2011-10-01

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

The Durability of Endoscopic Therapy for Treatment of Barrett's Metaplasia, Dysplasia, and Mucosal Cancer After Nissen Fundoplication.

PubMed

Johnson, Corey S; Louie, Brian E; Wille, Aaron; Dunst, Christy M; Worrell, Stephanie G; DeMeester, Steven R; Reynolds, Jessica; Dixon, Joe; Lipham, John C; Lada, Michal; Peters, Jeffrey H; Watson, Thomas J; Farivar, Alexander S; Aye, Ralph W

2015-05-01

Radiofrequency ablation (RFA) ± endoscopic resection (EMR) is an established treatment strategy for neoplastic Barrett's and intramucosal cancer. Most patients are managed with proton pump inhibitors. The incidence of recurrent Barrett's metaplasia, dysplasia, or cancer after complete eradication is up to 43 % using this strategy. We hypothesize the addition of fundoplication should result in a lower recurrence rates after complete eradication. Multi-institutional retrospective review of patients undergoing endotherapy followed by Nissen fundoplication A total of 49 patients underwent RFA ± EMR followed by Nissen fundoplication. Complete remission of intestinal metaplasia (CR-IM) was achieved in 26 (53 %) patients, complete remission of dysplasia (CR-D) in 16 (33 %) patients, and 7 (14 %) had persistent neoplastic Barrett's. After fundoplication, 18/26 (70 %) remained in CR-IM. An additional 10/16 CR-D achieved CR-IM and 4/7 with persistent dysplasia achieved CR-IM. One patient progressed to LGD while no patient developed HGD or cancer. Endoscopic therapy for Barrett's dysplasia and/or intramucosal cancer followed by fundoplication results in similar durability of CR-IM to patients being managed with PPIs alone after endoscopic therapy. However, fundoplication may be superior in preventing further progression of disease and the development of cancer. Fundoplication is an important strategy to achieve and maintain CR-IM, and facilitate eradication of persistent dysplasia.

Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes

PubMed Central

Mark, Barry J.; Becker, Bradley A.; Halloran, Donna R.; Bree, Alanna F.; Sindwani, Raj; Fete, Mary D.; Motil, Kathleen J.; Srun, Sopheak W.; Fete, Timothy J.

2013-01-01

Background Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and case reports suggest an increase in atopy and primary immunodeficiencies (PIDs) among patients with ED syndromes. Objective To determine the prevalence of clinical symptoms suggestive of atopy or immunodeficiency among a large cohort of children with ED syndromes. Methods A 9-page questionnaire was mailed to families who were members of the National Foundation for Ectodermal Dysplasias. The surveys were completed by parents of children younger than 18 years with a diagnosis of an ED syndrome or carrier state. Portions of the questionnaire were adapted from previously validated questionnaires developed by the International Study of Asthma and Allergies in Childhood (ISAAC). Results We received 347 completed questionnaires (41%). When compared with the 13- to 14-year-old children surveyed by ISAAC, we found both all-aged and age-matched children with ED syndromes, respectively, had significantly higher rates of asthma (32.2% and 37.2% vs 16.4%), rhinitis symptoms (76.1% and 78.3% vs 38.9%), and eczema (58.9% and 48.9% vs 8.2%). The prevalence of physician-diagnosed food allergies (20.7%) and PIDs (6.1%) in these ED patients also exceeded known rates in the general pediatric population. Conclusion This large-scale, retrospective study demonstrates a greater reported prevalence of symptoms suggestive of atopic disorders and PIDs among children with ED syndromes than the general pediatric population. A combination of genetic and environmental factors in ED syndromes may contribute to breaches of skin and mucosal barriers, permitting enhanced transmission and sensitization to irritants, allergens, and pathogens. PMID:22626597

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.

Fat-suppressed 3D spoiled gradient-echo MRI and MDCT arthrography of articular cartilage in patients with hip dysplasia.

PubMed

Nishii, Takashi; Tanaka, Hisashi; Nakanishi, Katsuyuki; Sugano, Nobuhiko; Miki, Hidenobu; Yoshikawa, Hideki

2005-08-01

Our objective was to assess the diagnostic ability of MDCT arthrography for acetabular and femoral cartilage lesions in patients with hip dysplasia. A disorder of the articular cartilage was evaluated in 20 hips of 18 patients with acetabular dysplasia who did not have osteoarthritis or who had early stage osteoarthritis before undergoing pelvic osteotomy surgery. The findings on fat-suppressed 3D fast spoiled gradient-echo MRI and MDCT arthrography of the hip were evaluated by two independent observers, and sensitivity, specificity, and accuracy were determined using arthroscopic findings as the standard of reference. Kappa values were calculated to quantify the level of interobserver agreement. The sensitivity and specificity for the detection of any cartilage disorder (grade 1 or higher) were (observer 1/observer 2) 49%/67% and 89%/76%, respectively, on MRI, and 67%/67% and 89%/82%, respectively, on CT arthrography. The sensitivity and specificity for the detection of cartilage lesions with substance loss (grade 2 or higher) were (observer 1/observer 2) 47%/53% and 92%/87%, respectively, on MRI, and 70%/79% and 93%/94%, respectively, on CT arthrography. CT arthrography provided significantly higher sensitivity in the detection of grade 2 or higher lesions than MRI for both observers. Interobserver agreement in the detection of grade 2 or higher cartilage lesions was moderate (kappa = 0.53) on MRI and substantial (kappa = 0.78) on CT. MDCT arthrography is a sensitive and reproducible method for assessing articular cartilage lesions with substance loss in patients with hip dysplasia.

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

PubMed

de Bruin, Christiaan; Finlayson, Courtney; Funari, Mariana F A; Vasques, Gabriela A; Lucheze Freire, Bruna; Lerario, Antonio M; Andrew, Melissa; Hwa, Vivian; Dauber, Andrew; Jorge, Alexander A L

2016-01-01

Acromicric dysplasia (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. Both can result from missense mutations in the transforming growth factor beta 5 domain of the fibrillin-1 gene (FBN1). Two patients (P1 age 10, and P2 age 7) from unrelated families presented to their endocrinologist with severe short stature (approx. -4 SDS). They were otherwise asymptomatic and only had mild facial dysmorphisms. Extensive endocrine work-up did not reveal an underlying etiology. Exome sequencing was performed in each family. Exome sequencing identified the presence of the same heterozygous missense variant c.C5183T (p.Ala1728Val) in the FBN1 gene in both P1 and P2. This variant was previously reported in a patient with GD2 and associated cardiac valvulopathy and hepatomegaly. Detailed clinical re-examination, cardiac and skeletal imaging did not reveal any abnormalities in P1 or P2 other than mild hip dysplasia. This report broadens the phenotypic spectrum of growth disorders associated with FBN1 mutations. Identical mutations give rise to a wide phenotypic spectrum, ranging from isolated short stature to a more classic picture of GD2 with cardiac involvement, distinct facial dysmorphisms and various skeletal anomalies. © 2016 S. Karger AG, Basel.

The surgical management of fibrous dysplasia of bone.

PubMed

Stanton, Robert P; Ippolito, Ernesto; Springfield, Dempsey; Lindaman, Lynn; Wientroub, Shlomo; Leet, Arabella

2012-05-24

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.

Management of symptomatic florid cemento-osseous dysplasia: Literature review and a case report

PubMed Central

Gucciardino, Federico; Rapetti, Roberta; Siervo, Sandro; Bianch, Andrea-Edoardo

2018-01-01

Introduction Cemento-osseous dysplasia is a jaw disorder characterized by a reactive process in which normal bone is replaced by connective tissue matrix. There are different Cemento-osseous dysplasia entities. The treatment of these lesions, once diagnosed by radiology, is not required because generally they are asymptomatic. The localization is in the tooth-bearing areas of the jaws and its distribution is symmetric. Case Reports In this case report, a 57-year-old Caucasian female patient was referred to our attention complaining of painful inflammatory events localized in the right angle of the jaw. The radiographic appearance, the distribution of several lesions and the positive vitality test of the involved teeth, supported the diagnosis of Florid Cemento-osseous dysplasia. Because of the symptomatology, the patient was submitted to surgery and the lesion and the second inferior right molar were removed. The histological examination of the specimens confirmed the diagnosis. Discussion Many lesions that may exhibit a similar sclerotic appearance on conventional radiographs have to be differentiated and dental imaging can be used to discriminate between Florid COD and other lesions. Diagnosis of Florid Cemento-osseous dysplasia can be made with accurate clinical and radiographic assessment. In asymptomatic cases no treatment is required and the patient should have regular follow-up, but in this symptomatic case it was necessary to proceed with surgical intervention. The surgery treatment in the symptomatic case had a favourable prognosis and the two years follow-up has shown a complete healing. Given the abow, it is concluded that the choice of treatment must be selective according to the disease sites. Key words:Cemento-ossifying dysplasia, fibro-osseous lesions, florid cemento-osseous dysplasia, cementoma. PMID:29721232

Management of symptomatic florid cemento-osseous dysplasia: Literature review and a case report.

PubMed

Aiuto, Riccardo; Gucciardino, Federico; Rapetti, Roberta; Siervo, Sandro; Bianch, Andrea-Edoardo

2018-03-01

Cemento-osseous dysplasia is a jaw disorder characterized by a reactive process in which normal bone is replaced by connective tissue matrix. There are different Cemento-osseous dysplasia entities. The treatment of these lesions, once diagnosed by radiology, is not required because generally they are asymptomatic. The localization is in the tooth-bearing areas of the jaws and its distribution is symmetric. In this case report, a 57-year-old Caucasian female patient was referred to our attention complaining of painful inflammatory events localized in the right angle of the jaw. The radiographic appearance, the distribution of several lesions and the positive vitality test of the involved teeth, supported the diagnosis of Florid Cemento-osseous dysplasia. Because of the symptomatology, the patient was submitted to surgery and the lesion and the second inferior right molar were removed. The histological examination of the specimens confirmed the diagnosis. Many lesions that may exhibit a similar sclerotic appearance on conventional radiographs have to be differentiated and dental imaging can be used to discriminate between Florid COD and other lesions. Diagnosis of Florid Cemento-osseous dysplasia can be made with accurate clinical and radiographic assessment. In asymptomatic cases no treatment is required and the patient should have regular follow-up, but in this symptomatic case it was necessary to proceed with surgical intervention. The surgery treatment in the symptomatic case had a favourable prognosis and the two years follow-up has shown a complete healing. Given the abow, it is concluded that the choice of treatment must be selective according to the disease sites. Key words: Cemento-ossifying dysplasia, fibro-osseous lesions, florid cemento-osseous dysplasia, cementoma.

Ectodermal Dysplasia: A Case Report

PubMed Central

2011-01-01

Ectodermal dysplasia is a hereditary disease characterized by dysplasia of tissues of ectodermal origin. The incidence of ectodermal dysplasia is rare (1 in 100,000 birth). This case report discusses the features, classification and prosthetic treatment plan (upper partial denture and lower complete denture for upper partial and lower complete edentulous arches respectively). This treatment plan would be able to provide psychological and functional boost to the sufferer. PMID:27678241

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

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.

Detection of intestinal dysplasia using angle-resolved low coherence interferometry

PubMed Central

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

2011-01-01

Angle-resolved low coherence interferometry (a/LCI) is an optical biopsy technique that allows for depth-resolved, label-free measurement of the average size and optical density of cell nuclei in epithelial tissue to assess the tissue health. a/LCI has previously been used clinically to identify the presence of dysplasia in Barrett's Esophagus patients undergoing routine surveillance. We present the results of a pilot, ex vivo study of tissues from 27 patients undergoing partial colonic resection surgery, conducted to evaluate the ability of a/LCI to identify dysplasia. Performance was determined by comparing the nuclear morphology measurements with pathological assessment of co-located physical biopsies. A statistically significant correlation between increased average nuclear size, reduced nuclear density, and the presence of dysplasia was noted at the basal layer of the epithelium, at a depth of 200 to 300 μm beneath the tissue surface. Using a decision line determined from a receiver operating characteristic, a/LCI was able to separate dysplastic from healthy tissues with a sensitivity of 92.9% (13/14), a specificity of 83.6% (56/67), and an overall accuracy of 85.2% (69/81). The study illustrates the extension of the a/LCI technique to the detection of intestinal dysplasia, and demonstrates the need for future in vivo studies. PMID:22029349

Developmental disorders of the dentition: an update

PubMed Central

Klein, Ophir D.; Oberoi, Snehlata; Huysseune, Ann; Hovorakova, Maria; Peterka, Miroslav; Peterkova, Renata

2013-01-01

Dental anomalies are common congenital malformations that can occur either as isolated findings or as part of a syndrome. This review focuses on genetic causes of abnormal tooth development and the implications of these abnormalities for clinical care. As an introduction, we describe general insights into the genetics of tooth development obtained from mouse and zebrafish models. This is followed by a discussion of isolated as well as syndromic tooth agenesis, including Van der Woude syndrome, ectodermal dysplasias, oral-facial-digital syndrome type I, Rieger syndrome, holoprosencephaly, and tooth anomalies associated with cleft lip and palate. Next, we review delayed formation and eruption of teeth, as well as abnormalities in tooth size, shape and form. Finally, isolated and syndromic causes of supernumerary teeth are considered, including cleidocranial dysplasia and Gardner syndrome. PMID:24124058

[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. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.

PubMed

Wahlbuhl-Becker, Mandy; Faschingbauer, Florian; Beckmann, Matthias W; Schneider, Holm

2017-04-01

Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. This paper summarizes the findings of the first systematic study on the impact of hypohidrotic ectodermal dysplasia on breastfeeding. Patients Thirty-eight adult female members of the German-Swiss-Austrian ectodermal dysplasia patient support group participated in a structured interview; most of them also agreed to a photodocumentation of their mammary region. Thirty-one women carried mutations in EDA (Group A) and seven were affected by other forms of hypohidrotic ectodermal dysplasia (Group B). Results 39 % of the women of Group A reported that their breasts were of different size or entirely absent on one side. In Group B, 86 % of the women reported differently sized or even absent breasts; two of these women lacked both breasts entirely. Most women described their nipples as exceptionally flat. 10 % of the women of Group A had more than two nipples. The high percentage of deviations from the norm was confirmed in the photodocumentation. Both groups had few or no sebaceous glands of Montgomery in the areolar region. Around 80 % of interviewed women had children and had attempted to breastfeed their first child. 67 % of the mothers in Group A had had difficulty in breastfeeding their infants and generally attributed this difficulty to their flat nipples. All of the mothers in Group B reported difficulties in breastfeeding; 60 % had not been able to breastfeed their first child. Conclusion Mothers with hypohidrotic ectodermal dysplasia very often have difficulty

Human papilloma virus infection and cervical dysplasia.

PubMed

Melinte-Popescu, Alina; Costăchescu, Gh

2012-01-01

Pap testing is considered to be the best screening tool for cervical cancer but there is currently great interest in the possible application of human papilloma virus (HPV) testing to supplement Pap screening for cervical cancer. To determine the prevalence of high-risk HPV types in the studied population and to explore the association between high-risk HPV types and cervical dysplasia. Cross-sectional study conducted at the Iasi Cuza Voda Obstetrics-Gynecology Hospital and Suceava County Hospital. 332 women who underwent colposcopy for cervical lesions between 2006 and 2011 were included in this study. The overall prevalence of HPV was 57.23%. HPV prevalence differs significantly in the three age groups up to 50 years. It was highest in patients below the age of 40 and progressively lower with advancing age. The overall prevalence of cervical dysplasia was 56.62%. The prevalence of cervical dysplasia was highest in the age groups up to 40 years. The most important determinant of HPV infection is age. Persistence of HPV appears to be associated with progression to squamous intraepithelial lesion. Dysplasia is often missed in a cervical sample either because of human error in screening and interpretation, or because of suboptimal quality of Pap smear. Incorporation of HPV testing into the present Pap screening program has the potential of making screening for cervical cancer more effective, and a necessary prelude to assessing this is by determining the prevalence of the high-risk types.

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. ...

Genetics Home Reference: craniometaphyseal dysplasia

MedlinePlus

... Passos-Bueno MR. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet. 2000 Dec ...

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

PubMed

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

2015-06-01

Developmental dysplasia of the hip is often diagnosed in infancy, but less severe cases of acetabular dysplasia are being detected in young active adults. The purpose of this case report is to present a non-surgical intervention for a 31-year-old female with mild acetabular dysplasia and an anterior acetabular labral tear. The patient presented with right anterior hip and groin pain, and she stood with the trunk swayed posterior to the pelvis (swayback posture). The hip pain was reproduced with the anterior impingement test. During gait, the patient maintained the swayback posture and reported 6/10 hip pain. Following correction of the patient's posture, the patient's pain rating was reduced to a 2/10 while walking. The patient was instructed to maintain the improved posture. At the 1 year follow-up, she demonstrated significantly improved posture in standing and walking. She had returned to recreational running and was generally pain-free. The patient demonstrated improvement on self-reported questionnaires for pain, function, and activity. These findings suggest that alteration of posture can have an immediate and lasting effect on hip pain in persons with structural abnormality and labral pathology. Copyright © 2015 Elsevier Ltd. All rights reserved.

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.

Effect of acetabular reinforcement ring with hook for acetabular dysplasia clarified by three-dimensional finite element analysis.

PubMed

Zhao, Xin; Chosa, Etsuo; Yamako, Go; Watanabe, Shinji; Deng, Gang; Totoribe, Koji

2013-12-01

The objective of this study was to biomechanically determine the effect of the severity of acetabular dysplasia, number and positions of screws and type of bone graft material used on the initial fixation strength of the acetabular reinforcement ring with hook (Ganz ring) using the finite element method. Relative micromotion increased as the severity of acetabular dysplasia increased and tended to decrease as the number of screws increased, but varied according to screw placement position. Increased strength of the bone graft material led to decreased relative micromotion. Biomechanically, the Ganz ring can be placed securely using 3 screws in patients with Crowe 1 dysplasia. However, in patients with Crowe 2 or higher dysplasia, it is necessary to spread at least 4 screws across an area of good host bone. © 2013.

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.

Different clinical presentation and management of temporal bone fibrous dysplasia in children.

PubMed

Mierzwiński, Józef; Kosowska, Justyna; Tyra, Justyna; Haber, Karolina; Drela, Maria; Paczkowski, Dariusz; Burduk, Paweł

2018-01-15

Fibrous dysplasia is a slowly progressive benign fibro-osseous disorder that involves one or multiple bones with a unilateral distribution in most cases. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Temporal bone involvement is the least frequently reported type, especially in children. We reviewed available articles regarding fibrous dysplasia with temporal bone involvement in children and added four patients aged 7 to 17 years who were diagnosed and treated in our institution from 2006 to 2017. The patients' clinical picture comprised head deformity, external canal stenosis, headache, progressive conductive and/or sensorineural hearing loss, tinnitus, and sudden deafness. Two patients had experienced severe episodic vertigo with nausea and vomiting. Two were referred to us with external canal obstruction and secondary cholesteatoma formation with broad middle ear destruction. One was diagnosed with acute mastoiditis and intracranial complications. Optimal management of fibrous dysplasia is unclear and can be challenging, especially in children. In our two patients with disease expansion and involvement of important structures, surgical treatment was abandoned and a "wait-and-scan" policy was applied. The other two were qualified for surgical treatment. One patient underwent two surgeries: modified lateral petrosectomy (canal left open) with pathological tissue removal, cavity obliteration, and subsequent tympanoplasty. Another patient with extensive destruction of the left temporal bone underwent canal wall down mastoidectomy with perisinus abscess drainage and revision 12 months later. Tympanoplasty was unsatisfactory in both patients because of slow progression of the middle ear pathology. None of our patients underwent pharmacological treatment. In younger patients, observation and a "wait-and-scan" protocol is relevant until significant function, or cosmetic deficits are obvious. Surgery is not preferred and should

A case of thanatophoric dysplasia type 2: a novel mutation.

PubMed

Gülaşı, Selvi; Atıcı, Aytuğ; Çelik, Yalçın

2015-03-01

Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings congruent with TD type 2 and a new mutation in the FGFR3 gene, a finding which has not been reported previously.

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

PubMed Central

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

2016-01-01

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

Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.

PubMed

Kennedy, David P; Chandler, John W; McCulley, James P

2015-06-01

To present the ocular manifestation of 2 cases of ectrodactyly-ectodermal dysplasia-cleft syndrome, a multiple congenital anomaly syndrome caused by a single point mutation of the p63 gene that controls epidermal development and homeostasis and to present treatment options. Patient 1 presented with mild signs and symptoms of dry eye and limbal stem cell deficiency with retention of 20/30 vision. Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. This second patient's course was complicated by allergic conjunctivitis and advanced steroid-induced glaucoma. The cause of visual loss in ectrodactyly-ectodermal dysplasia-cleft syndrome appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and limbal stem cell deficiency. Treatment modalities including lubrication, contact lenses, and limbal stem cell transplantation are reviewed. The ophthalmic conditions seen in ectrodactyly-ectodermal dysplasia-cleft syndrome frequently lead to vision loss. Early correct diagnosis and appropriate therapy are paramount because p63 gene mutations have a critical role in maintaining the integrity of the ocular surface in the setting of limbal stem cell deficiency, especially if there are other ocular surface insults such as lid disease, meibomian gland dysfunction and toxicity from topical medications. Patients should be monitored at regular, frequent intervals; and particular attention should be taken to avoid adverse secondary effects of these conditions and medications. Copyright © 2015 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

Brain Dysplasia Associated with Ciliary Dysfunction In Infants with Congenital Heart Disease

PubMed Central

Panigrahy, Ashok; Lee, Vincent; Ceschin, Rafael; Zuccoli, Giulio; Beluk, Nancy; Khalifa, Omar; Votava-Smith, Jodie K; DeBrunner, Mark; Munoz, Ricardo; Domnina, Yuliya; Morell, Victor; Wearden, Peter; De Toledo, Joan Sanchez; Devine, William; Zahid, Maliha; Lo, Cecilia W.

2016-01-01

Objective To test for associations between abnormal respiratory ciliary motion (CM) and brain abnormalities in infants with congenital heart disease (CHD) Study design We recruited 35 infants with CHD preoperatively and performed nasal tissue biopsy to assess respiratory CM by videomicroscopy. Cranial ultrasound and brain magnetic resonance imaging were obtained pre- and/or post-operatively and systematically reviewed for brain abnormalities. Segmentation was used to quantitate cerebrospinal fluid and regional brain volumes. Perinatal and perioperative clinical variables were collected. Results A total of 10 (28.5%) patients with CHD had abnormal CM. Abnormal CM was not associated with brain injury, but was correlated with increased extra-axial CSF volume (p<0.001), delayed brain maturation (p<0.05), and a spectrum of subtle dysplasia including the hippocampus (p<0.0078) and olfactory bulb (p<0.034). Abnormal CM was associated with higher composite dysplasia score (p<0.001) and both were correlated with elevated pre-operative serum lactate (p <0.001). Conclusion Abnormal respiratory CM in infants with CHD is associated with a spectrum of brain dysplasia. These findings suggest that ciliary defects may play a role in brain dysplasia in patients with CHD and have the potential to prognosticate neurodevelopmental risks. PMID:27574995

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

PubMed

Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

2012-01-01

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

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

Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

PubMed Central

Adaimy, Lynn ; Chouery, Eliane ; Mégarbané, Hala ; Mroueh, Salman ; Delague, Valérie ; Nicolas, Elsa ; Belguith, Hanen ; de Mazancourt, Philippe ; Mégarbané, André 

2007-01-01

Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ∼9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G→T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases. PMID:17847007

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

PubMed

Adaimy, Lynn; Chouery, Eliane; Megarbane, Hala; Mroueh, Salman; Delague, Valerie; Nicolas, Elsa; Belguith, Hanen; de Mazancourt, Philippe; Megarbane, Andre

2007-10-01

Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases.

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

Ectodermal dysplasia: a genetic review.

PubMed

Deshmukh, Seema; Prashanth, S

2012-09-01

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.

Orthopaedic manifestations of campomelic dysplasia.

PubMed

Khoshhal, Khalid; Letts, R Mervyn

2002-08-01

Campomelic dysplasia is a rare form of congenital dwarfism associated with potentially fatal respiratory insufficiency. There are several types of campomelic dysplasia; however, it is characterized by the presence of anteriorly bowed tibias with cutaneous dimpling, anterolaterally bowed femurs, thoracic kyphoscoliosis, hypoplastic scapulas, and absence or delayed ossification of thoracic pedicles. With improving treatment of respiratory insufficiency, the survival rate of affected infants has increased, thereby necessitating treatment of the musculoskeletal malformations to prevent additional morbidity. In an attempt to increase awareness of the presentation of infants with campomelic dysplasia and to emphasize the difficulties of treating associated developmental dislocation of the hip early, the current authors report the case of a 2-year-old girl with campomelic dysplasia who was treated for dislocation of the right hip. The postoperative course of this child was complicated seriously by several apneic episodes secondary to tracheobronchial malacia for which she required admission to the pediatric intensive care unit.

Dental implants in patients with ectodermal dysplasia: A systematic review.

PubMed

Chrcanovic, Bruno Ramos

2018-05-21

This study sought to assess the clinical outcome and survival rate of oral implants placed in individuals with ectodermal dysplasia (ED), based on previously published studies. An electronic search without time restrictions was undertaken in 5 databases (PubMed/Medline, Web of Science, ScienceDirect, J-Stage, Lilacs). Descriptive statistics, Kaplan Meier estimator and implant failure probability were calculated. 90 publications were included, reporting 228 ED patients that received 1472 implants (1392 conventional, 47 zygomatic, 33 mini-implants). Mean age of the patients was 20.2 ± 6.8 years (2-56). Patients had a mean of 3.2 ± 2.5 maxillary and 2.1 ± 2.6 mandibular permanent teeth (min-max, 0-14). Patients received a mean of 8.2 ± 3.8 implants (1-20). Most implants were placed in the third decade of life, 24.6% of the implants were placed in children (0-17 years of age). 1391 implants had information on follow-up (72 failures, 5.2%). The 20-year CSR was 84.6%. The probability of failure was 4.5% (95%CI 3.5%-5.6%, p < 0.001). Additional treatments performed were Le Fort I (99 implants, 20 patients, 3.5% failed), grafting (497 implants, 77 patients, 5.2% failed), distraction osteogenesis (79 implants, 16 patients, 10.1% failed). Mean follow-up was 42.9 ± 41.9 months (min-max, 2-240). Dental implants placed in ED patients, either infants or adults, present a high survival rate (20-year CSR 84.6%). Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

MRI characteristics of carotid bulb atypical fibromuscular dysplasia in black stroke patients.

PubMed

Joux, Julien; Mejdoubi, Mehdi; Quere, Jean-Baptiste; Colombani, Sylvie; Hennequin, Jean-Luc; Deschamps, Lydia; Jeannin, Séverine; Olindo, Stéphane

2016-06-01

In black stroke patients, a particular form of fibromuscular dysplasia (FMD), called atypical FMD (aFMD), is involved in stroke mechanism. The high rate of stroke recurrence under medical treatment leads to propose surgery in such patients. Regarding its location level on the carotid bulb, aFMD is often confused with atherosclerosis or free-floating thrombus. Nowadays, only histology can confirm the diagnosis. MRI of aFMD has never been assessed. The constitution of a black patient's cohort with aFMD-related ischemic stroke is currently in progress in the French West Indies, Martinique. In patients scheduled for surgery, MRI of the carotid bifurcation was analyzed preoperatively, with subsequent histological examination of the excised specimen. The first four black stroke patients with MRI and histological findings are described. On imaging, aFMD lesion was homogeneous with isosignal on T2-weighted sequences and slight hypersignal on T1-weighted sequences with mild gadolinium enhancement of the inner layer. Histological findings confirmed the aFMD mainly located in the intima. aFMD generates a particular MRI pattern in our four patients, which could increase the diagnosis accuracy. Carotid bulb lesion in black stroke patients should suggest aFMD and MRI analysis may contribute to rule out differential diagnoses. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

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

Genetics Home Reference: cranioectodermal dysplasia

MedlinePlus

... CRANIOECTODERMAL DYSPLASIA 4 Sources for This Page Arts H, Knoers N. Cranioectodermal Dysplasia. 2013 Sep 12. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of ...

Carotid and vertebral arterial fibromuscular dysplasia masquerading as severe preeclampsia: a case report.

PubMed

Dawley, Brenda; Ritchie, Adam

2011-01-01

Fibromuscular dysplasia is a non-atherosclerotic noninflammatory vascular disease that can affect any vascular bed. Dysplasia of the intima, media, or adventitia layer of the affected arteries causes stenosis and hypertension. Pregnant or post-partum patients may present with hypertension and be mistakenly diagnosed with preeclampsia. A 26 year old Gravida 1 Para 1 female 20 days post partum from a spontaneous vaginal delivery was transported from an outlying facility due to severely elevated blood pressure and transient left arm numbness and left sided facial droop. Upon arrival the patient was begun on intravenous magnesium sulfate and labetalol for a presumptive diagnosis of severe post partum preeclampsia. Her blood pressure and symptoms responded promptly. Due to her neurologic symptoms a magnetic resonance angiogram was ordered revealing 90% stenosis of her bilateral carotid and vertebral arteries. Severe hypertension and minimal neurologic symptoms may be the presenting symptoms for fibromuscular dysplasia. Cranial imaging is warranted in any pregnant or post partum patient who presents with these symptoms to allow appropriate treatment.

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

PubMed Central

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

2015-01-01

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

Case report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia.

PubMed

Mosaed, Sameh; Jacobsen, Bradley H; Lin, Ken Young

2016-01-07

Diagnostic and surgical management of severe chronic angle- closure glaucoma secondary to ciliary body cysts can be difficult to manage in a patient with oculodentodigital dysplasia. A 6-year old girl with oculodentodigital dysplasia, with progressive chronic angle- closure glaucoma secondary to ciliary body cysts presented to our clinic. The initial examination revealed counting fingers vision in the left eye. Intraocular pressure (IOP), as assessed by tonopen, was 31 mm Hg. Ultrasound biomicroscopy revealed ciliary body cysts in the left eye, and gonioscopy confirmed chronic angle closure. A tube shunt was placed to control the elevated IOP. A year after her tube shunt placement in the left eye, ultrasound biomiscropy was performed on her right eye and showed no ciliary body cysts. Gonioscopy in the right eye revealed an open angle to the ciliary body band. Subsequent serial gonioscopy every 3 months showed gradual narrowing of the right eye angle and finally three-and-a-half years after tube placement of the left eye, her right eye IOP became uncontrolled with medications alone and a tube shunt was similarly placed in the right eye. Intraoperative ultrasound biomicroscopy performed at the time of the right eye tube shunt revealed extensive ciliary body cysts in the right eye. Her IOP in both eyes have been well controlled since the placement of tube shunts. This is one of the first reported cases of severe chronic angle- closure glaucoma secondary to ciliary body cysts in a patient with oculodentodigital dysplasia. We believe that early screening for ciliary body cysts is important in patients with oculodentodigital dysplasia.

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

PubMed

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

2016-12-01

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

Internet search term affects the quality and accuracy of online information about developmental hip dysplasia.

PubMed

Fabricant, Peter D; Dy, Christopher J; Patel, Ronak M; Blanco, John S; Doyle, Shevaun M

2013-06-01

The recent emphasis on shared decision-making has increased the role of the Internet as a readily accessible medical reference source for patients and families. However, the lack of professional review creates concern over the quality, accuracy, and readability of medical information available to patients on the Internet. Three Internet search engines (Google, Yahoo, and Bing) were evaluated prospectively using 3 difference search terms of varying sophistication ("congenital hip dislocation," "developmental dysplasia of the hip," and "hip dysplasia in children"). Sixty-three unique Web sites were evaluated by each of 3 surgeons (2 fellowship-trained pediatric orthopaedic attendings and 1 orthopaedic chief resident) for quality and accuracy using a set of scoring criteria based on the AAOS/POSNA patient education Web site. The readability (literacy grade level) of each Web site was assessed using the Fleisch-Kincaid score. There were significant differences noted in quality, accuracy, and readability of information depending on the search term used. The search term "developmental dysplasia of the hip" provided higher quality and accuracy compared with the search term "congenital hip dislocation." Of the 63 total Web sites, 1 (1.6%) was below the sixth grade reading level recommended by the NIH for health education materials and 8 (12.7%) Web sites were below the average American reading level (eighth grade). The quality and accuracy of information available on the Internet regarding developmental hip dysplasia significantly varied with the search term used. Patients seeking information about DDH on the Internet may not understand the materials found because nearly all of the Web sites are written at a level above that recommended for publically distributed health information. Physicians should advise their patients to search for information using the term "developmental dysplasia of the hip" or, better yet, should refer patients to Web sites that they have

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

PubMed

Lian, Jayson; Cuk, Mario; Kahlfuss, Sascha; Kozhaya, Lina; Vaeth, Martin; Rieux-Laucat, Frédéric; Picard, Capucine; Benson, Melina J; Jakovcevic, Antonia; Bilic, Karmen; Martinac, Iva; Stathopulos, Peter; Kacskovics, Imre; Vraetz, Thomas; Speckmann, Carsten; Ehl, Stephan; Issekutz, Thomas; Unutmaz, Derya; Feske, Stefan

2017-11-16

Store-operated Ca 2+ entry (SOCE) through Ca 2+ release-activated Ca 2+ channels is an essential signaling pathway in many cell types. Ca 2+ release-activated Ca 2+ channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) 1 and STIM2. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. We performed molecular and immunologic analysis of patients with CID, anhidrosis, and ectodermal dysplasia of unknown etiology. We performed DNA sequencing of the ORAI1 gene, modeling of mutations on ORAI1 crystal structure, analysis of ORAI1 mRNA and protein expression, SOCE measurements, immunologic analysis of peripheral blood lymphocyte populations by using flow cytometry, and histologic and ultrastructural analysis of patient tissues. We identified 3 novel autosomal recessive mutations in ORAI1 in unrelated kindreds with CID, autoimmunity, ectodermal dysplasia with anhidrosis, and muscular dysplasia. The patients were homozygous for p.V181SfsX8, p.L194P, and p.G98R mutations in the ORAI1 gene that suppressed ORAI1 protein expression and SOCE in the patients' lymphocytes and fibroblasts. In addition to impaired T-cell cytokine production, ORAI1 mutations were associated with strongly reduced numbers of invariant natural killer T and regulatory T (Treg) cells and altered composition of γδ T-cell and natural killer cell subsets. ORAI1 null mutations are associated with reduced numbers of invariant natural killer T and Treg cells that likely contribute to the patients' immunodeficiency and autoimmunity. ORAI1-deficient patients have dental enamel defects and anhidrosis, representing a new form of anhidrotic ectodermal dysplasia with immunodeficiency that is distinct from previously reported patients with anhidrotic ectodermal dysplasia with immunodeficiency caused by mutations in the nuclear factor κB signaling

Epileptogenicity of cortical dysplasia in temporal lobe dual pathology: an electrophysiological study with invasive recordings.

PubMed

Fauser, Susanne; Schulze-Bonhage, Andreas

2006-01-01

Hippocampal sclerosis is often associated with macroscopic or microscopic dysplasia in the temporal neocortex (TN). The relevance of such a dual pathology with regard to epileptogenesis is unclear. This study investigates the role of both pathologies in the generation of ictal and interictal activity. Ictal (113 seizures) and interictal data from invasive EEG recordings with simultaneous depth electrodes in the hippocampus and subdural electrodes over the TN were analysed retrospectively in 12 patients with variable degrees of hippocampal sclerosis and different types of histologically confirmed temporal cortical dysplasia [all male, age at epilepsy onset <1-29 years (mean 9.6 years), age when invasive recordings were performed 6-50 years (mean 28.2 years)]. Of the seizures 41.3% arose from the amygdala/hippocampus complex (AHC), 34.7% from the TN, 22% were simultaneously recorded from AHC and TN (indeterminate seizure onset), and 2% from other regions. In three patients, seizure onset was recorded only from the AHC. In patients with severe hippocampal sclerosis only 12% of the seizures arose from the TN, whereas in patients with mild hippocampal sclerosis 58% arose from the TN. The type of cortical dysplasia, however, did not predict seizure onset in the AHC or TN. Propagation time from the TN to the AHC tended to be shorter (mean 7.4 s) than vice versa (mean 13.7 s). The most common initial ictal patterns in the AHC were rhythmic beta activity (<25 Hz) and repetitive sharp waves, and in the TN were fast activity (>25 Hz) and repetitive sharp waves. The interictal patterns over the TN were similar to those seen over extratemporal focal cortical dysplasias. Simultaneous recordings from the hippocampus and the TN strongly suggest that dysplastic tissue in the TN is often epileptogenic. The quantitative contribution of the hippocampus to seizure generation corresponded with the degree of hippocampal pathology, whereas different subtypes of cortical dysplasia did not

Dentomaxillofacial characteristics of ectodermal dysplasia.

PubMed

Nakayama, Yumiko; Baba, Yoshiyuki; Tsuji, Michiko; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Moriyama, Keiji

2015-02-01

The aim of this retrospective hospital-based study was to elucidate the dentomaxillofacial characteristics of ectodermal dysplasia. Six Japanese individuals (one male and five female; age range, 12.7-27.2 years) underwent comprehensive examinations, including history recording, cephalometric analysis, panoramic radiography, and analysis of dental models. All the subjects had two or more major manifestations for clinical diagnosis of ectodermal dysplasia (e.g., defects of hair, teeth, nails, and sweat glands). They presented hypodontia (mean number of missing teeth, 9.5; range, 5-14), especially in the premolar region, and enamel dysplasia. Five subjects had bilateral molar occlusion, whereas one subject had unilateral molar occlusion. The common skeletal features were small facial height, maxillary hypoplasia, counterclockwise rotation of the mandible, and mandibular protrusion. Interestingly, the maxillary first molars were located in higher positions and the upper anterior facial height was smaller than the Japanese norm. The results suggest that vertical and anteroposterior maxillary growth retardation, rather than lack of occlusal support due to hypodontia, leads to reduced anterior facial height in individuals with ectodermal dysplasia. © 2014 Japanese Teratology Society.

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.

Findings of florid cemento-osseous dysplasia: a report of three cases.

PubMed

Köse, Taha Emre; Köse, Onur Dincer; Karabas, Hulya Cakir; Erdem, Tamer Lutfi; Ozcan, Ilknur

2013-10-01

Florid cemento-osseous dysplasia (FCOD) is a benign jaw lesion originating from periodontal ligament tissues usually asymptomatic and diagnosed accidentally at routine dental radiographic examination. The purpose of this paper is to report three cases diagnosed as FCOD with their clinical, radiographic and histological findings. Radiologic and clinical symptoms of three cases diagnosed as FCOD are presented. Serum alkaline phosphatase test and biopsy taken from two of the patients are discussed to eliminate the Paget's disease. Three patients diagnosed as FCOD and called for routine follow-up. Because of no sign of infection or osteomyelitis, conservative treatment was applied. Radiographic examination is significant for the diagnosis of florid cemento-osseous dysplasia, especially in the asymptomatic cases. The roles of the dentist are to ensure the follow-up of the diagnosed patients and to take the necessary measures for preventing from the infections.

X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry.

PubMed

Fete, Mary; Hermann, Julie; Behrens, Jeffrey; Huttner, Kenneth M

2014-10-01

The web-based Ectodermal Dysplasia International Registry (EDIR) is a comprehensive patient-reported survey contributing to an understanding of ectodermal dysplasia (ED). XLHED is the most common of the genetic ED syndromes and was the primary diagnosis reported by 223/835 respondents (141 males and 82 females). Overall, 96% of XLHED registrants reported as least one other affected family member and 21% reported a family history of infant or childhood deaths, consistent with the published mortality data in this disorder. In general, XLHED is diagnosed by the triad of decreased sweating, reduced hair, and hypodontia (present in 89%, 74%, and 74% of XLHED respondents). Additionally, the registry dataset confirmed a spectrum of life-long XLHED clinical complications including recurrent sinus infections (49% males, 52% females), nasal congestion often foul smelling and interfering with feeding (73% males, 27% females), eczema (66% males, 40% females), wheezing (66% males, 45% females), and a hoarse, raspy voice (67% males, 23% females). The Registry results also highlighted features consistently differentiating XLHED from the non-hypohidrotic ED syndromes including the frequency of infant/childhood deaths, the presence of limb/digit abnormalities, feeding issues related to nasal discharge, dentures, and a diagnosis of asthma. These results represent the largest collection of data on a broad-spectrum of health-related issues affecting ED patients. This project provides information for expanding knowledge of the natural history of XLHED, and as such may facilitate the diagnosis and treatment of its varied and lifelong medical challenges. © 2014 Wiley Periodicals, Inc.

Canine Hip Dysplasia: Diagnostic Imaging.

PubMed

Butler, J Ryan; Gambino, Jennifer

2017-07-01

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

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...

Cervical Dysplasia

PubMed Central

Carmichael, John A.

1983-01-01

Invasive squamous carcinoma of the cervix is preceded by a series of premalignant changes described as mild, moderate, or severe dysplasia, and carcinoma in situ. These premalignant states are identified by cervical cytology, diagnosed by colposcopy and if effectively treated, can prevent invasive squamous carcinoma of the cervix. Because of the apparent biological variation of the premalignant states, even the most aggressive cervical screening program cannot be expected to eliminate all invasive squamous cancer of the cervix. Optimal results of a cervical screening program will be achieved when all women under 35 years of age and sexually active have an annual cytological smear; the cytology is screened by a laboratory with high quality control; the patient's positive cytology is accurately assessed by an experienced colposcopist, and the premalignant lesion is effectively treated. PMID:21283455

Changes in pulmonary circulation in severe bronchopulmonary dysplasia.

PubMed Central

Bush, A; Busst, C M; Knight, W B; Hislop, A A; Haworth, S G; Shinebourne, E A

1990-01-01

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. Images Figure 7 PMID:2117421

Massive hyperphosphatemia in a patient with neuronal intestinal dysplasia after bowel preparation with oral sodium phosphate.

PubMed

Arikan, Hakki; Guler, Derya; Birdal, Gurdal; Nalcaci, Serdar; Aykut, Emre; Ozcan, Ceren; Irmak, Rahmi; Banzragch, Munkhtsetseg; Arzu, Velioglu

2013-07-01

Oral sodium phosphate-based laxatives are frequently used for bowel preparation or relief of constipation in some countries. However, these agents are not without risk. Small and clinical insignificant increments on serum phosphorus levels are observed in almost all individuals after use of oral sodium phosphate. Some patients are prone to severe hyperphosphatemia such as elders, those with chronic or acute renal disease and those with poor bowel motility. Severe hyperphosphatemia accompanied with hypocalcemia may be life-threatening in these patients. We present an 18-year-old woman with neuronal intestinal dysplasia who developed symptomatic and severe hyperphosphatemia after bowel preparation with oral sodium phosphate enema. Urgent hemodialysis was performed two times for severe hyperphosphatemia.

Compliance with therapy for cervical dysplasia among women of low socioeconomic status.

PubMed

Laedtke, T W; Dignan, M

1992-01-01

This paper reports results of a project designed to examine factors related to compliance with referral for follow-up and treatment of cervical dysplasia. Women studied had cervical dysplasia diagnosed by Pap smear between May 1989 and April 1990. These women had regular follow-up at the gynecology clinic of the Reynolds Health Center in Winston-Salem or at one of 14 county health departments in northwestern North Carolina. Data were collected by chart review, and included age, race, place of residence, marital status, parity/gravidity, education, previous papillomavirus infections, method of payment, and previous Pap smear results. Patients were traced through the treatment protocol, and compliance was assessed at each appointment. In these women of low socioeconomic status, approximately one third of those referred for treatment of dysplasia were noncompliant with referral.

Dedicated Barrett's surveillance sessions managed by trained endoscopists improve dysplasia detection rate.

PubMed

Ooi, Joanne; Wilson, Patrick; Walker, Giles; Blaker, Paul; DeMartino, Sabina; O'Donohue, John; Reffitt, David; Lanaspre, Effie; Chang, Fuju; Meenan, John; Dunn, Jason M

2017-06-01

Background and study aim  Barrett's esophagus (BE)-associated dysplasia is an important marker for risk of progression to esophageal adenocarcinoma (EAC) and an indication for endoscopic therapy. However, BE surveillance technique is variable. The aim of this study was to assess the effect of dedicated BE surveillance lists on dysplasia detection rate (DDR). Patients and methods  This was a prospective study of patients undergoing BE surveillance at two hospitals - community (UHL) and upper gastrointestinal center (GSTT). Four endoscopists (Group A) were trained in Prague classification, Seattle protocol biopsy technique, and lesion detection prior to performing BE surveillance endoscopies at both sites, with dedicated time slots or lists. The DDR was then compared with historical data from 47 different endoscopists at GSTT and 24 at UHL (Group B) who had undertaken Barrett's surveillance over the preceding 5-year period. Results  A total of 729 patients with BE underwent surveillance endoscopy between 2007 and 2012. There was no significant difference in patient age, sex, or length of BE between the two groups. There was a significant difference in detection rate of confirmed indefinite or low grade dysplasia and high grade dysplasia (HGD)/EAC between the two groups: 18 % (26 /142) Group A vs. 8 % (45/587) in Group B ( P  < 0.001). Documentation of Prague criteria and adherence to the Seattle protocol was significantly higher in Group A. Conclusion  This study demonstrated that a group of trained endoscopists undertaking Barrett's surveillance on dedicated lists had significantly higher DDR than a nonspecialist cohort. These findings support the introduction of dedicated Barrett's surveillance lists. © Georg Thieme Verlag KG Stuttgart · New York.

Is There an Association Between Borderline-to-mild Dysplasia and Hip Osteoarthritis? Analysis of CT Osteoabsorptiometry.

PubMed

Irie, Tohru; Takahashi, Daisuke; Asano, Tsuyoshi; Arai, Ryuta; Terkawi, Muhammad Alaa; Ito, Yoichi M; Iwasaki, Norimasa

2018-07-01

The definitive treatment of borderline-to-mild dysplasia remains controversial. A more comprehensive understanding of the etiology of osteoarthritis (OA) and clarification of any possible association between borderline-to-mild dysplasia and the pathogenesis of OA are essential. (1) Does the distribution of acetabular subchondral bone density increase according to dysplasia severity? (2) Is there an association between borderline-to-mild dysplasia and OA pathogenesis? We evaluated bilateral hips of patients with developmental dysplasia of the hip who underwent eccentric rotational acetabular osteotomy (ERAO) for inclusion in the dysplasia group and contralateral hips of patients with unilateral idiopathic osteonecrosis of the femoral head (ONFH) who underwent curved intertrochanteric varus osteotomy (CVO) for the control group. ERAO was performed in 46 patients and CVO was performed in 32 patients between January 2013 and August 2016 at our institution. All patients underwent bilateral hip CT. The study included 55 hips categorized according to dysplasia severity: (1) borderline-mild, 19 hips (15° ≤ lateral center-edge angle [LCEA] < 25°); (2) moderate, 20 hips (5° ≤ LCEA < 15°); (3) severe, 16 hips (LCEA < 5°); and (4) control, 15 hips. Thirty-seven dysplastic hips (age < 15 or > 50 years old, prior hip surgery, subluxation, aspherical femoral head, cam deformity, and radiographic OA) and 17 control hips (age < 15 or > 50 years old, bilateral ONFH, LCEA < 25° or ≥ 35°, cam deformity, and radiographic OA) were excluded. CT-osteoabsorptiometry (OAM) predicts physiologic biomechanical conditions in joints by evaluating subchondral bone density. We evaluated the distribution of subchondral bone densities in the acetabulum with CT-OAM, dividing the stress distribution map into six segments: anteromedial, anterolateral, centromedial, centrolateral, posteromedial, and posterolateral. We calculated the percentage of high-density area, which was defined as the

Ectodermal dysplasia (ED) syndrome.

PubMed

Chee, Siew-Yin; Wanga, Chung-Hsing; Lina, Wei-De; Tsaia, Fuu-Jen

2014-01-01

Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.

Outcomes after liquid nitrogen spray cryotherapy in Barrett's esophagus-associated high-grade dysplasia and intramucosal adenocarcinoma: 5-year follow-up.

PubMed

Ramay, Fariha H; Cui, Qingping; Greenwald, Bruce D

2017-10-01

Liquid nitrogen spray cryotherapy (LNSCT) has been shown to be a safe, well-tolerated, and effective therapy for Barrett's esophagus (BE)-associated high-grade dysplasia (BE-HGD) and intramucosal adenocarcinoma (IMC). Long-term follow-up is lacking. The aim of this study was to assess the efficacy, durability, and rate of neoplastic progression after LNSCT in BE-HGD/IMC at 3 and 5 years. In this single-center, retrospective study drawn from a prospective database, patients with BE-HGD/IMC of any length treated with LNSCT were followed with surveillance endoscopy with biopsy for 3 to 5 years. Patients with IMC completely removed by endoscopic resection were included. Outcome measures included complete eradication of HGD (CE-HGD), dysplasia, and intestinal metaplasia; incidence rates; durability of response; location of recurrent intestinal metaplasia and dysplasia; and rate of disease progression. A total of 50 and 40 patients were included in 3-year and 5-year analyses. Initial CE-HGD, dysplasia, and intestinal metaplasia achieved in 98%, 90%, and 60%, respectively. Overall CE-HGD, dysplasia, and intestinal metaplasia at 3 years were 96% (48/50), 94% (47/50), and 82% (41/50), and at 5 years were 93% (37/40), 88% (35/40), and 75% (30/40). Incidence rates of recurrent intestinal metaplasia, dysplasia, and HGD/esophageal adenocarcinoma per person-year of follow-up after initial complete eradication of intestinal metaplasia (CE-IM) were 12.2%, 4.0%, and 1.4% per person-year for the 5-year cohort. Most recurrences were found immediately below the neosquamocolumnar junction. Two of 7 HGD recurrences occurred later than 4 years after initial eradication, and 2 patients (4%) progressed to adenocarcinoma despite treatment. In patients with BE-HGD/IMC, LNSCT is effective in eliminating dysplasia and intestinal metaplasia. Progression to adenocarcinoma was uncommon, and recurrence of dysplasia was successfully treated in most cases. Long-term surveillance is necessary to

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.

Computer-assisted brush-biopsy analysis for the detection of dysplasia in a high-risk Barrett's esophagus surveillance population.

PubMed

Anandasabapathy, Sharmila; Sontag, Stephen; Graham, David Y; Frist, Stephen; Bratton, Joan; Harpaz, Noam; Waye, Jerome D

2011-03-01

Barrett's epithelial dysplasia, the direct precursor to esophageal adenocarcinoma, is often unapparent and frequently missed during surveillance of Barrett's esophagus with four-quadrant forceps biopsy protocol. To determine whether the detection of dysplasia is improved by adding computer-assisted brush biopsy (EndoCDx©) to four-quadrant biopsy protocol. Patients with a history of Barrett's esophagus with dysplasia scheduled for endoscopic surveillance were recruited from four academic medical centers. Patients underwent brush biopsy followed by four-quadrant biopsy every 1-2 cm. The results from brush and forceps biopsy were reviewed independently by pathologists blinded to the other's results. Among 151 patients enrolled (124 men, 27 women; mean age: 65), 117 (77.5%) had forceps and brush-biopsy specimens adequate for interpretation. The mean number of forceps biopsies was 11.9 (median 10, range 2-40) and brush biopsies was 2.0 (median 2, range 1-4). The overall yield of forceps alone was 25.2% (n = 38). Brush biopsy added an additional 16 positive cases increasing the yield of dysplasia detection by 42% (95% CI: 20.7-72.7). The number needed to test (NNT) to detect one additional case of dysplasia was 9.4 (95% CI: 6.4-17.7). There were no significant differences in results among different centers, between standard versus jumbo forceps, or between forceps biopsies taken every 1 cm versus every 2 cm. These data suggest that computer-assisted brush biopsy is a useful adjunct to standard endoscopic surveillance regimens for the identification of dysplasia in Barrett's esophagus.

Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review.

PubMed

Schnabl, D; Grunert, I; Schmuth, M; Kapferer-Seebacher, I

2018-04-21

Hypohidrotic ectodermal dysplasia (HED) comprises a large group of inherited disorders of ectodermal structures, characterised by hypo- or anhidrosis, hypotrichosis and hypo- or oligo- or anodontia. We aimed to systematically assess the spectrum of prosthodontic approaches with regard to the patients' age and to provide clinical implications for practicing dentists. An electronic and manual search was conducted in four databases (Medline, LIVIVO, Cochrane Library, Web of Science Core Collection). Publications of multiple study designs written in English or German without data restrictions, reporting on prosthodontic treatment of patients diagnosed with HED and afflicted with oligo- or anodontia, were included. In total, 75 articles on 146 patients were analysed according to the patients' age. In children aged 2-17 years, removable full or partial (over)dentures represented standard treatment. In the mandible, implant-supported removable dentures on two interforaminal implants presented an alternative, already in young childhood. In cases with more than six teeth per jaw, also fixed (resin) bridges were used, frequently after orthodontic treatment. In adults, fixed or removable reconstructions with the help of up to eight implants per jaw, usually placed after bone augmentation procedures, were standard. Ten case reports/series with long-term follow-up illustrated the need for consistent maintenance including denture renewals. Prosthodontic rehabilitation should start in early childhood and needs to be revised in accordance with the patients' growth. Treatment should be carried out by a multidisciplinary team addressing variable demands in different age groups. © 2018 John Wiley & Sons Ltd.

Detecting dysplasia using white light endoscopy or chromoendoscopy in ulcerative colitis patients without primary sclerosing cholangitis: A systematic review and meta-analysis.

PubMed

Azizi, Saeed; Al-Rubaye, Hussein; Turki, Mohammed Adil A; Siddiqui, Muhammad R Sameem; Shanmuganandan, Arun P; Ehsanullah, Bushra; Brar, Ranjeet; Abulafi, Al-Mutaz

2018-04-01

Endoscopic examinations are a vital diagnostic tool for dysplasia. Establishing the precision of different modes of examination is essential due to the disparate pick-up rates of dysplasia. The aim of this article was to establish the pick-up rates of dysplastic or cancerous lesions using white light endoscopy (WLE) and random/targeted biopsies, or chromoendoscopy (CE), in patients with ulcerative colitis (UC) without primary sclerosing (PSC) or Crohn's disease (CD). A systematic review to identify all studies up to November 2017, without language restriction, was conducted from PubMed, the Cochrane Controlled Trials Register (1960-2017), MEDLINE, CINAHL and EMBASE (1981-2017). MeSH and text word terms used included "ulcerative colitis", "dysplasia", "random biopsy", "targeted biopsy", "colonoscopy", "white light", and "chromoendoscopy". Further searches were performed using the bibliographies of these articles. All studies reporting on colonoscopy detection rates of dysplasia and cancers in UC without involvement of PSC or CD were included. There was no age restriction to include patients. Outcome data were extracted by 2 authors independently using outcome measures defined a priori. Quality assessment was performed using the Newcastle-Ottawa scales. Data were extracted and analysed according to meta-analytical techniques using comprehensive meta-analysis. The pooled overall pick-up rate of dysplastic/cancerous lesions on WLE random biopsies was 5.6% [Event rate 0.06 (0.01, 0.23), df = 4, I2 = 94%]. Using a combined random and targeted approach with WLE the incidence was 5.1% [Event rate 0.05 (0.03, 0.09), df = 4, I2 = 96%]. One study reported on CE and found a 7% pick-up rate for dysplastic lesions. Endoscopic examination of UC patients without PSC identifies dysplastic or cancerous lesions in 5-7% of cases. WLE and random biopsies may pick-up a similar number of lesions to targeted biopsies, however the number of biopsies may need to be greater

Moore-Federman syndrome and acromicric dysplasia: are they the same entity?

PubMed Central

Winter, R M; Patton, M A; Challener, J; Mueller, R F; Baraitser, M

1989-01-01

Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal bone age. The clinical features in the four children are very similar to the recently described acromicric dysplasia. There are also similarities to Moore-Federman syndrome which has only been described in one family. The case is made that acromicric dysplasia and Moore-Federman syndrome are the same entity. Images PMID:2732993

Salivary mRNA markers having the potential to detect oral squamous cell carcinoma segregated from oral leukoplakia with dysplasia.

PubMed

Michailidou, Evangelia; Tzimagiorgis, Georgios; Chatzopoulou, Fani; Vahtsevanos, Konstantinos; Antoniadis, Konstantinos; Kouidou, Sofia; Markopoulos, Anastasios; Antoniades, Dimitrios

2016-08-01

In the current study the presence of extracellular IL-1B, IL-8, OAZ and SAT mRNAs in the saliva was evaluated as a tool in the early detection of oral squamous cell carcinoma. 34 patients with primary oral squamous cell carcinoma stage T1N0M0/T2N0M0, 20 patients with oral leukoplakia and dysplasia (15 patients with mild dysplasia and 5 with severe dysplasia/in situ carcinoma) and 31 matched healthy-control subjects were included in the study. The presence of IL-1B, IL-8, OAZ and SAT mRNA was evaluated in extracellular RNA isolated from saliva samples using sequence-specific primers and real-time RT-PCR. ROC curve analysis was used to estimate the ability of the biomarkers to detect oral squamous cell carcinoma patients. The data reveal that the combination of these four biomarkers provides a good predictive probability of up to 80% (AUC=0.799, p=0.002) for patients with oral squamous cell carcinoma but not patients suffering from oral leukoplakia with dysplasia. Moreover, the combination of only the two biomarkers (SAT and IL-8) also raises a high predictive ability of 75.5% (AUC=0.755, p=0.007) approximately equal to the four biomarkers suggesting the use of the two biomarkers only in the prediction model for oral squamous cell carcinoma patients limiting the economic and health cost in half. SAT and IL-8 mRNAs are present in the saliva in high quality and quantity, with a good discriminatory ability for oral squamous cell carcinoma patients only but not for patients with oral leukoplakia and dysplasia an oral potentially malignant disorder. Copyright © 2016. Published by Elsevier Ltd.

Neuromotor outcomes in infants with bronchopulmonary dysplasia.

PubMed

Karagianni, Paraskevi; Tsakalidis, Christos; Kyriakidou, Maria; Mitsiakos, Georgios; Chatziioanidis, Helias; Porpodi, Maria; Evangeliou, Athanasios; Nikolaides, Nikolaos

2011-01-01

We examine the neuromotor outcomes of preterm infants with bronchopulmonary dysplasia. Two hundred and nineteen infants (gestational age, ≤ 32 weeks; birth weight, ≤ 1500 g) were studied. Neuromotor development was assessed using the Hammersmith Infant Neurological Examination. All potential risk factors associated with neuromotor scores (P < 0.015) were included in the generalized linear model (multiple linear regression) to determine if bronchopulmonary dysplasia had an independent relationship with neuromotor scores. Infants with severe bronchopulmonary dysplasia had lower global scores at ages 6 and 12 months. After adjustment for confounding factors, scores of infants with severe bronchopulmonary dysplasia were reduced by 13.2 units, whereas scores for those with periventricular leukomalacia were reduced by 11.1 units, at age 6 months. At age 12 months, scores for those with periventricular leukomalacia were reduced by 11.9 units. Duration of hospital stay reduced scores by 0.1 for each additional day increase in hospital. Bronchopulmonary dysplasia constitutes a major cause of poor neuromotor outcomes at age 6 months, but improvements in motor outcomes occur over time. Copyright © 2011 Elsevier Inc. All rights reserved.

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.

Combining aneuploidy and dysplasia for colitis' cancer risk assessment outperforms current surveillance efficiency: a meta-analysis.

PubMed

Meyer, Rüdiger; Freitag-Wolf, Sandra; Blindow, Silke; Büning, Jürgen; Habermann, Jens K

2017-02-01

Cancer risk assessment for ulcerative colitis patients by evaluating histological changes through colonoscopy surveillance is still challenging. Thus, additional parameters of high prognostic impact for the development of colitis-associated carcinoma are necessary. This meta-analysis was conducted to clarify the value of aneuploidy as predictor for individual cancer risk compared with current surveillance parameters. A systematic web-based search identified studies published in English that addressed the relevance of the ploidy status for individual cancer risk during surveillance in comparison to neoplastic mucosal changes. The resulting data were included into a meta-analysis, and odds ratios (OR) were calculated for aneuploidy or dysplasia or aneuploidy plus dysplasia. Twelve studies addressing the relevance of aneuploidy compared to dyplasia were comprehensively evaluated and further used for meta-analysis. The meta-analysis revealed that aneuploidy (OR 5.31 [95 % CI 2.03, 13.93]) is an equally effective parameter for cancer risk assessment in ulcerative colitis patients as dysplasia (OR 4.93 [1.61, 15.11]). Strikingly, the combined assessment of dysplasia and aneuploidy is superior compared to applying each parameter alone (OR 8.99 [3.08, 26.26]). This meta-analysis reveals that aneuploidy is an equally effective parameter for individual cancer risk assessment in ulcerative colitis as the detection of dysplasia. More important, the combined assessment of dysplasia and aneuploidy outperforms the use of each parameter alone. We suggest image cytometry for ploidy assessment to become an additional feature of consensus criteria to individually assess cancer risk in UC.

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

[Florid cemento-osseous dysplasia of the jaws].

PubMed

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

2011-06-01

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

Bilateral Thalamocortical Abnormalities in Focal Cortical Dysplasia.

PubMed

Rezayev, Arthur; Feldman, Henry A; Levman, Jacob; Takahashi, Emi

2018-05-05

Focal cortical dysplasia (FCD), a congenital malformation of the neocortex and one of the most common causes of medication resistant epilepsy in pediatric populations, can be studied noninvasively by diffusion tensor imaging (DTI). The present study aimed to quantify changes in the thalamus and thalamocortical pathways with respect to fractional anisotropy (FA), apparent diffusion coefficient (ADC), volume, and other common measures. The study quantified data collected from pediatric patients with a prior diagnosis of FCD; 75 patients (35 females, 10.1 ± 6.5 years) for analysis of thalamic volume and 68 patients (32 females, 10.2 ± 6.4 years) for DTI analysis. DTI scans were taken at 3 Tesla MRI scanners (30 diffusion gradient directions; b= 1000 s/mm 2 and 5 non diffusion-weighted measurements). DTI tractography was performed using the FACT algorithm with an angle threshold of 45 degrees. Manually delineated ROIs were used to compare the hemisphere containing the dysplasia to the contralateral hemisphere and controls. A significant decrease in the volume of the FCD hemisphere thalamus was detected as compared to the contralateral hemisphere. In comparison to controls, there was an observed reduction in tract volume, length, count, FA of thalami, and FA of thalamocortical pathways in FCD patients. FCD patients had higher odds of exhibiting high ADC in both the thalamus and thalamocortical pathways. The data implied a widespread reduction in structural connectivity of the thalamocortical network. MRI analysis suggests a potential influence of FCD on thalamic volume. Copyright © 2018. Published by Elsevier B.V.

Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases.

PubMed

Vasconcelos Carvalho, Marianne; Romero Souto de Sousa, José; Paiva Correa de Melo, Filipe; Fonseca Faro, Tatiane; Nunes Santos, Ana Clara; Carvalho, Silvia; Veras Sobral, Ana Paula

2013-07-14

Ectodermal dysplasias are a large group of syndromes characterized by anomalies in the structures of ectodermal origin. There are 2 major types of this disorder, based on clinical findings: hypohidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. This clinical classification is very important because clinical professionals involved with this disease need first a clear and practical method of diagnosis. The main oral manifestation of ectodermal dysplasia may be expressed as hypodontia. Thus, dental professionals may be the first to diagnose ectodermal dysplasia. The present article reports one case of each of the main types (hypohidrotic and hidrotic) of ectodermal dysplasia and the authors review the literature regarding the pathogenesis, clinical features, and therapeutic management of this condition.

Prevalence of inflammatory bowel disease related dysplasia and cancer in 1500 colonoscopies from a referral center in northwestern Greece.

PubMed

Katsanos, Konstantinos H; Stamou, Paraskevi; Tatsioni, Athina; Tsianos, Vasileios E; Zoumbas, Stefanos; Kavvadia, Spyridoula; Giga, Anna; Vagias, Ioannis; Christodoulou, Dimitrios K; Tsianos, Epameinondas V

2011-02-01

To report on the prevalence of inflammatory bowel disease (IBD) related intestinal dysplasia and cancer in northwestern Greece. Single referral center retrospective study. The policy among all gastroenterologists of the area regarding medical treatment, patient follow up and bowel surveillance strategies including risk factors is the same. We analyzed 1494 colonoscopies from 696 consecutive IBD patients (494 UC). The follow up time [median, IQR] was 16 [8-23] years and the age at diagnosis was 28 [21-49] years. The number of patient years at risk was 16.219. Disease location for UC was: pancolitis 761 (59%), left sided colitis 455 (35%), and proctitis 69 (6%). Disease location for CD was: colitis 142 (66%), ileitis 45 (22%) and ileocolitis 21 (10%). Disease activity was in remission in 1240 (83%) of them. In total, 498 (72%) patients were on mesalazine, 169(24%) on immunosuppression and 29 (4%) on biologicals. Biopsies were taken randomly in 1429 (96%) endoscopies and were targeted in 65 (4%) of them. We recorded 69 (9.4%) cases with dysplasia and 10 (1.4%) cases with intestinal cancer (9 in UC). No difference was found for dysplasia and cancer in patients who followed up for 10-20 years or for more than 20 years. The prevalence of dysplasia and cancer is increased in UC compared to CD but the prevalence of high-grade dysplasia is comparatively low. Intestinal cancer prevalence is increasing after the first decade and then practically remains stable. Copyright © 2010 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.

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

NASA Astrophysics Data System (ADS)

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

2010-02-01

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

Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

PubMed

Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

2012-04-01

To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis.

PubMed

Barman, Debasis; Mandal, Satadal; Nandi, Santanu; Banerjee, Pranabashish; Rashid, M A

2011-11-01

Ectodermal dysplasia is a complex group of familial disorders with numerous clinical characteristics, with an incidence of 7 in 10000 born alive children. Ectodermal dysplasia affects structures of ectodermal origin like the skin and its appendages as well as other non-ectodermal structures. The most common sites of involvement are the defects in the skin, hair, teeth, nails and sweat glands,which are of ectodermal origin. Though the dermatologists and paediatricians often manage such cases, we report one case of ectodermal dysplasia presenting with atrophic rhinitis.

Clinical application of entire gastrointestinal barium meal combined with multi-temporal abdominal films in patients with intestinal neuronal dysplasia type B.

PubMed

Li, Xiao-Yun; Li, Xiao-Gang; Du, Ming-Guo; Chen, Zhi-Dan; Tao, Zheng-Gui; Liao, Xiao-Feng

2013-01-01

To report and evaluate the application of entire gastrointestinal barium meal combined with multi-temporal abdominal films in the diagnosis of patients with intestinal neuronal dysplasia type B (IND type B). Thirty-six patients with symptoms of long-standing constipation were enrolled in this study. The study took place at the Department of General Surgery, Xiangyang Central Hospital, Hubei Province, China from July 2007 to October 2012. All of them had already been subjected to the tests of barium enema and anorectal manometry and were suspected to be IND type B, but were not confirmed by mucous membrane acetylcholinesterase determination. All underwent the entire gastrointestinal barium meal combined with multi-temporal abdominal films. The data was collected and then analyzed retrospectively. After entire gastrointestinal barium meal combined with multi-temporal abdominal films, 30 out of 36 cases in this group were diagnosed with intestinal neuronal diseases, and then were treated with appropriate surgical treatment. The postoperative pathological diagnosis was IND type B. The other 6 patients in this group still could not be diagnosed explicitly after the test; thus, we treated them with conservative treatment. Entire gastrointestinal barium meal combined with multi-temporal abdominal films has the advantage of being able to test the gastrointestinal transfer capabilities and to find physiological and pathological changes simultaneously. It could provide important proof for the diagnosis of patients with intestinal neuronal dysplasia type B.

Amolimogene bepiplasmid, a DNA-based therapeutic encoding the E6 and E7 epitopes from HPV, for cervical and anal dysplasia.

PubMed

Alvarez-Salas, Luis M

2008-12-01

MGI Pharma Biologics is developing amolimogene bepiplasmid as a potential therapy for HPV-associated diseases, including cervical dysplasia. Amolimogene bepiplasmid is a polymer-encapsulated DNA vaccine consisting of a plasmid expressing a chimeric peptide comprising immunogenic hybrid epitopes from HPV-16 and HPV-18 E6 and E7 proteins and an HLA-DRalpha intracellular trafficking peptide. In phase I and I/II clinical trials of ZYC-101 (the precursor of amolimogene bepiplasmid containing a single epitope from HPV-16 E7) in patients with cervical dysplasia and patients with anal dysplasia, ZYC-101 produced significant histological regression and was safe and well tolerated. Results from this trial led to a phase II clinical trial of amolimogene bepiplasmid in patients with cervical dysplasia. This phase II trial demonstrated that treatment with amolimogene bepiplasmid resolution of disease was not significantly superior to placebo except in the predefined group of women who were less than 25 years of age. A phase II/III clinical trial was ongoing at the time of publication examining amolimogene bepiplasmid in this patient population.

A randomized, prospective cross-over trial comparing methylene blue-directed biopsy and conventional random biopsy for detecting intestinal metaplasia and dysplasia in Barrett's esophagus.

PubMed

Ragunath, K; Krasner, N; Raman, V S; Haqqani, M T; Cheung, W Y

2003-12-01

The value of methylene blue-directed biopsies (MBDB) in detecting specialized intestinal metaplasia and dysplasia in Barrett's esophagus remains unclear. The aim of this study was to compare the accuracy of MBDB with random biopsy in detecting intestinal metaplasia and dysplasia in patients with Barrett's esophagus. A prospective, randomized, cross-over trial was undertaken to compare MBDB with random biopsy in patients with Barrett's esophagus segments 3 cm or more in length without macroscopic evidence of dysplasia or cancer. Dysplasia was graded as: indefinite for dysplasia, low-grade dysplasia, high-grade dysplasia, or carcinoma, and was reported in a blinded fashion. Fifty-seven patients were recruited, 44 of whom were male. A total of 1,269 biopsies were taken (MBDB-651, random biopsie-618). Analysis of the results by per-biopsy protocol showed that the MBDB technique diagnosed significantly more specialized intestinal metaplasia (75 %) compared to the random biopsy technique (68 %; P = 0.032). The sensitivity and specificity rates of MBDB for diagnosing specialized intestinal metaplasia were 91 % (95 % CI, 88 - 93 %) and 43 % (95 % CI, 36 - 51 %), respectively. The sensitivity and specificity rates of MBDB for diagnosing dysplasia or carcinoma were 49 % (95 % CI, 38 - 61 %) and 85 % (95 % CI, 82 - 88 %), respectively. There were no significant differences in the diagnosis of dysplasia and carcinoma - MBDB 12 %, random biopsy 10 %. The methylene blue staining pattern appeared to have an influence on the detection of specialized intestinal metaplasia and dysplasia/carcinoma. Dark blue staining was associated with increased detection of specialized intestinal metaplasia (P < 0.0001), and heterogeneous staining (P = 0.137) or no staining (P = 0.005) were associated with dysplasia and/or carcinoma detection. The MBDB technique prolonged the endoscopy examination by an average of 6 min. The diagnostic accuracy of the MBDB technique was superior to that of the

Ultrasound in detection of developmental hip dysplasia in premature born children.

PubMed

Misanovic, Verica; Jonuzi, Fedzat; Maksic-Kovacevic, Hajra; Rahmanovic, Selma

2015-04-01

Developmental hip dysplasia represents the most common deformation of locomotor system in children. Developmental modulation of the hip is expressed during first year of life which is important for early diagnosis and treatment. Therefore, in the practice, it is very important to set a diagnosis early with application of simple and convenient methods (ultrasound) in order to achieve fast and efficient therapeutical effect and avoid permanent disability. The aim of this paper is to point out the increase of prematurely born infants and their survival thanks to the development of Unit for Intensive Neonatal Care at the Pediatric Clinics in Sarajevo. Clinical investigation included 150 infants (77 girls and 73 boys) in whom the developmental hip dysplasia was diagnosed with clinical exam, ultrasound exam and x-ray of the hips. The exams were done in period of January 2012 to August 2014. Two groups of patients were formed. The first one consisted of premature infants, total number of 75 (34 girls and 41 boys), with developmental hip dysplasia that was diagnosed at the first exam at the Ultrasound unit of the Pediatric clinics and at the Intensive Neonatal Care Unit of the Pediatric Clinics in Sarajevo. Second (control) group consistsed of patients-on term infants who had diagnosed one of developmental hip dysplasia, total of 75 (43 girls and 32 boys) during first exam in the Ultrasound unit of the Pediatric clinics in Sarajevo. The frequency of premature birth is between 5 and 10% of all labors and demonstrates increasing trend. We suggest ultrasound examination of hips in each newborn, term or premature, at the age of 6 weeks after birth.

Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum

PubMed Central

Thiel, Christian T. ; Mortier, Geert ; Kaitila, Ilkka ; Reis, André ; Rauch, Anita 

2007-01-01

Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis and cartilage hair hypoplasia (CHH) to the severe anauxetic dysplasia (AD). This clinical spectrum includes different degrees of short stature, hair hypoplasia, defective erythrogenesis, and immunodeficiency. The RMRP gene encodes the untranslated RNA component of the mitochondrial RNA–processing ribonuclease, RNase MRP. We recently demonstrated that mutations may affect both messenger RNA (mRNA) and ribosomal RNA (rRNA) cleavage and thus cell-cycle regulation and protein synthesis. To investigate the genotype-phenotype correlation, we analyzed the position and the functional effect of 13 mutations in patients with variable features of the CHH-AD spectrum. Those at the end of the spectrum include a novel patient with anauxetic dysplasia who was compound heterozygous for the null mutation g.254_263delCTCAGCGCGG and the mutation g.195C→T, which was previously described in patients with milder phenotypes. Mapping of nucleotide conservation to the two-dimensional structure of the RMRP gene revealed that disease-causing mutations either affect evolutionarily conserved nucleotides or are likely to alter secondary structure through mispairing in stem regions. In vitro testing of RNase MRP multiprotein-specific mRNA and rRNA cleavage of different mutations revealed a strong correlation between the decrease in rRNA cleavage in ribosomal assembly and the degree of bone dysplasia, whereas reduced mRNA cleavage, and thus cell-cycle impairment, predicts the presence of hair hypoplasia, immunodeficiency, and hematological abnormalities and thus increased cancer risk. PMID:17701897

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.

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

PubMed Central

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

2015-01-01

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

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

Barrett’s Esophagus: Frequency and Prediction of Dysplasia and Cancer

PubMed Central

Falk, Gary W.

2015-01-01

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

A giant cranial aneurysmal bone cyst associated with fibrous dysplasia.

PubMed

Składzieriń, J; Olés, K; Zagólski, O; Moskała, M; Sztuka, M; Strek, P; Wierzchowski, W; Tomik, J

2008-01-01

An aneurysmal bone cyst (ABC) is a rare, benign fibro-osseous lesion, considered a vascular phenomenon secondary to fibrous dysplasia or a giant-cell tumour, and occurs mainly in long bones and vertebrae. In this case report a 16-year-old male presented with massive epistaxis. He was admitted with a 3-year history of chronic rhinitis, headaches, right ocular pain and recurrent epistaxis. CT scans showed a predominantly cystic, expansive mass obstructing both nasal cavities, extending to all paranasal sinuses and both orbits, with evidence of anterior cranial fossa skull base destruction. The patient underwent a craniofacial resection of the tumour performed with an external approach and an immediate reconstruction of the dural defect. Histology confirmed the lesion was an ABC associated with fibrous dysplasia. The patient's recovery was complete. A large facial aneurysmal bone cyst can damage the facial skeleton and skull base, and requires excision by a combined external approach.

Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation.

PubMed

Korniszewski, Lech; Arbuckle, Susan; Kozlowski, Kazimierz

2003-05-01

A number of more or less distinct entities with low birth weight and abnormal radiographic appearances have been identified. We studied two sisters who were unusual because of severe intrauterine growth restriction, absence of growth after birth, decrease of pre- and postnatal spontaneous mobility, and early fatal outcome. The chondro-osseous morphology documented a distinctive osteochondrodysplasia. The radiographic examination was superficially similar to gracile bone dysplasias but was inconsistent with any known types of this group. These two patients appear to have a unique gracile bone dysplasia. Copyright 2003 Wiley-Liss, Inc.

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

PubMed

Falk, Gary W

2015-02-01

The incidence of oesophageal adenocarcinoma is continuing to increase at an alarming rate in the Western world today. Barrett's oesophagus is a clearly recognized risk factor for the development of oesophageal adenocarcinoma, but the overwhelming majority of patients with Barrett's oesophagus will never develop oesophageal cancer. A number of endoscopic, histologic and epidemiologic risk factors identify Barrett's oesophagus patients at increased risk for progression to high-grade dysplasia and oesophageal adenocarcinoma. Endoscopic factors include segment length, mucosal abnormalities as seemingly trivial as oesophagitis and the 12 to 6 o'clock hemisphere of the oesophagus. Both intestinal metaplasia and low grade dysplasia, the latter only if confirmed by a pathologist with expertise in Barrett's oesophagus pathologic interpretation are the histologic risk factors for progression. Epidemiologic risk factors include ageing, male gender, obesity, and smoking. Factors that may protect against the development of adenocarcinoma include a diet rich in fruits and vegetables, and the use of proton pump inhibitors, aspirin/NSAIDs and statins. Copyright © 2015 Elsevier Ltd. All rights reserved.

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.

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

PubMed

Raus, Iulian; Coroiu, Roxana Elena

2016-01-01

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

Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

DOE Office of Scientific and Technical Information (OSTI.GOV)

Doody, O., E-mail: orla_doody@hotmail.co; Adam, W. R.; Foley, P. T.

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.

Intestinal metaplasia in Barrett's oesophagus: An essential factor to predict the risk of dysplasia and cancer development.

PubMed

Salemme, Marianna; Villanacci, Vincenzo; Cengia, Gianpaolo; Cestari, Renzo; Missale, Guido; Bassotti, Gabrio

2016-02-01

To date, there is still uncertainty on the role of specialized intestinal metaplasia in the carcinogenic process of Barrett's oesophagus (BE); this fact seems of importance for planning adequate surveillance programs. To predict the risk of progression towards dysplasia/cancer based on typical morphological features by evaluating the importance of intestinal metaplasia in BE patients. 647 cases with a histological diagnosis of BE, referred to the Endoscopy Unit of a tertiary centre between 2000 and 2012 were retrospectively identified, and divided into two groups according to the presence/absence of intestinal metaplasia. For each patient, all histological reports performed during a follow-up of 4-8 years were analyzed. Overall, 537 cases (83%) with intestinal metaplasia and 110 cases (17%) without intestinal metaplasia were included. During the follow-up period, none of the patients without intestinal metaplasia developed dysplasia/cancer nor progressed to metaplasia, whereas 72 patients with intestinal metaplasia (13.4%) showed histological progression of the disease. The histological identification of intestinal metaplasia seems to be an essential factor for the progression towards dysplasia and cancer in BE patients. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

PubMed

Goodwin, Alice F; Larson, Jacinda R; Jones, Kyle B; Liberton, Denise K; Landan, Maya; Wang, Zhifeng; Boekelheide, Anne; Langham, Margaret; Mushegyan, Vagan; Oberoi, Snehlata; Brao, Rosalie; Wen, Timothy; Johnson, Ramsey; Huttner, Kenneth; Grange, Dorothy K; Spritz, Richard A; Hallgrímsson, Benedikt; Jheon, Andrew H; Klein, Ophir D

2014-09-01

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.

Categorizing Cortical Dysplasia Lesions for Surgical Outcome Using Network Functional Connectivity

NASA Astrophysics Data System (ADS)

Bdaiwi, Abdullah Sarray

Lesion-symptom mapping is a powerful and broadly applicable approach that is used for linking neurological symptoms to specific brain regions. Traditionally, it involves identifying overlap in lesion location across patients with similar symptoms. This approach has limitations when symptoms do not localize to a single region or when lesions do not tend to overlap. In this thesis, we show that we can expand the traditional approach of lesion mapping to incorporate network effects into symptom localization without the need for specialized neuroimaging of patients. Our approach involves assessing the functional connectivity of each lesion volume with the rest of the typical healthy brain using a database of healthy pediatric brain imaging data (C-MIND), available at CCHMC. Our study included 24 subjects that had cortical dysplasia lesions and underwent surgery for seizures that did not respond to drug therapy. We tested our approach using healthy brain imaging data across all ages (2-18 years old) and using age & gender specific groupings of data. The analysis sought categorization of lesion connectivity based on five subject characteristics: gender, cortical dysplasia pathology, epilepsy syndrome, scalp EEG pattern and surgical outcome. Our primary analysis focused on surgical outcome. The results showed that there are some substantial connectivity differences in the outcome analysis. Lesions with stronger connectivity to default mode and attention/motor networks tended to result in poorer surgical outcomes. This result could be expanded with a larger set of data with the ultimate goal of allowing examination of lesions of cortical dysplasia patients and predicting their seizure outcomes.

Dental and maxillofacial characteristics of six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

PubMed

Okamura, Erika; Suda, Naoto; Baba, Yoshiyuki; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Ahiko, Nozomi; Yasue, Akihiro; Tengan, Toshimoto; Shiga, Momotoshi; Tsuji, Michiko; Moriyama, Keiji

2013-03-01

Objective : Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design : To highlight the specific dental and maxillofacial characteristics of ectrodactyly-ectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients : The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were taken; systemic complications were recorded at the first visit to our dental hospital. Results : All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions : This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

[Septo-optic dysplasia].

PubMed

Martínez-Sánchez, L; Arce, A; Caritg-Bosch, J; Campistol, J; Pavía, C; Gean-Molins, E

Septo optic syndrome, described by De Morsier in 1956, consists in the hypoplasia of one or both optic nerves, mid line brain malformations and hypothalamohypophysial dysfunction, which is inconstant. It is an infrequent, but treatable, cause of hepatic and neurological damage, and it is important to obtain an early diagnosis and to begin hormone replacement therapy. We report the clinical case of a female baby who was diagnosed early on as suffering from septo?optic dysplasia, after discovery of the existence of cholestatic jaundice. In our case the three components of the syndrome were present: hypothalamohypophysial dysfunction, bilateral hypoplasia of the optic nerves and brain malformations with dysplasia of the transparent septum. All this gives rise to complex clinical features and the predominance of hypernatraemic dehydration secondary to insipid diabetes, nystagmus and serious psychomotor retardation. Our patient died, as in other cases reported in the literature, from an episode of sudden death. Despite the importance of an early diagnosis of this disorder, it is usually late. Most children who present hypopituitarism traits in the neonatal period are not diagnosed at that time, with the subsequent risk of death or brain damage. Some clinical findings, which appear early on and can provide clues which aid us to reach a diagnosis, are the appearance of episodes of hypoglycaemia in the neonatal period, the existence of micropenis and cryptorchidism with hypoplasic testes, jaundice or the appearance of clinical manifestations of insipid diabetes. Later on nystagmus and neurological symptoms may appear. The final diagnosis is performed through the use of neuroimaging techniques (CT or MRI) and hormonal studies.

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

PubMed

Aravind, Thara; Janardhanan, Mahija; Rakesh, S; Savithri, Vindhya; Unnikrishnan, U G

2017-01-01

Early detection of oral squamous cell carcinoma (OSCC) remains one of the most efficient ways to ensure patient survival and improved quality of life. Although specific biomarkers related to OSCC have been investigated, a useful biomarker that assesses the transition potential of potentially malignant lesion to OSCC remains to be found. Osteopontin (OPN) has been recognized as an important factor in tumorigenesis and their expression in OSCC have been investigated earlier. In the present study, evaluation of OPN expression in premalignant and malignant lesions has been carried out to assess their possible role as a biomarker in the early diagnosis and prognosis of OSCC. The objective of this study is to evaluate the role of OPN as a biomarker in the diagnosis and prognosis of OSCC. The study group consisted of archival paraffin-embedded blocks of ten cases each of varying grades of OSCC, oral epithelial dysplasias and epithelial hyperplasias. Sections were subjected to immunohistochemical staining for the biomarker OPN. A positive OPN expression was noticed in epithelial dysplasias and SCC arising from the oral epithelium. A progressive increase in the intensity of staining was seen with increasing grades of dysplasias and a decrease in OPN expression with an increase in grades was observed in OSCC. The expression of OPN in full thickness of epithelium in severe dysplasias, carcinoma in situ, and in the superficial epithelium of OSCC suggest the possibility of considering OPN expression in full epithelial thickness in dysplasias as an indicator for malignant transformation.

Disturbances of dental development distinguish patients with oligodontia-ectodermal dysplasia from isolated oligodontia.

PubMed

Dhamo, B; Kuijpers, M A R; Balk-Leurs, I; Boxum, C; Wolvius, E B; Ongkosuwito, E M

2018-02-01

To investigate phenotypic differences in dental development between isolated oligodontia and oligodontia-ectodermal dysplasia (ED). A total of 129 patients diagnosed with isolated oligodontia and 22 patients with oligodontia as part of ED were eligible. The phenotype of dental development was assessed for the frequency of missing a certain tooth, dental age, development of each tooth present, abnormal size and abnormal shape of teeth. The data were analysed building linear, ordinal and logistic regression models. Compared to patients with isolated oligodontia, patients with oligodontia-ED missed more frequently central incisors and second molars in both jaws, and lateral incisors in the mandible (P < .05). Oligodontia-ED was associated with delayed development of the permanent dentition (β = -0.10; 95% CI: -0.17, -0.03). Specifically, the maxillary teeth: right central incisor, right lateral incisor, right second premolar and left second premolar were delayed approximately from 2 to 4 developmental stages. In addition, the left mandibular second premolar was 3 developmental stages delayed. Abnormal shape of teeth was 7 times more evident in patients with oligodontia-ED compared to patients with isolated oligodontia (OR = 6.54; 95% CI: 2.34, 18.28). The abnormal size of teeth was not a distinctive characteristic for oligodontia-ED. Oligodontia-ED distinguishes from isolated oligodontia by more disturbances in dental development. The abnormal shape of incisors and canines in a patient with oligodontia can raise suspicions for accompanying ectodermal abnormalities. © 2017 The Authors. Orthodontics & Craniofacial Research Published by John Wiley & Sons Ltd.

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

PubMed

Zil'ber, V S

2014-01-01

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

The association between cervical dysplasia, a short cervix, and preterm birth.

PubMed

Miller, Emily S; Sakowicz, Allie; Grobman, William A

2015-10-01

We sought to determine whether cervical dysplasia in the absence of an excisional procedure is associated with an increased risk of preterm birth (PTB) and whether that risk is independent of the presence of a short cervix. This is a cohort study including women with a singleton pregnancy who underwent routine cervical length assessment between 18-23 6/7 weeks of gestation, stratified by cervical dysplasia (ie, no prior dysplasia, prior dysplasia but no excisional procedure, or prior excisional procedure). The frequency of a short cervix (≤2.5 cm) and PTB were compared between groups and multivariable analyses were performed to identify whether: (1) dysplasia alone or a prior excisional procedure was associated with PTB; and (2) whether these factors remained independently associated with PTB after adjusting for the presence of a short cervix. Of the 18,528 women who met inclusion criteria, 3023 (16.3%) had prior dysplasia alone and 1356 (7.3%) had a prior excisional procedure. The frequency of a short cervix for women without dysplasia, with prior dysplasia alone, or with a prior excisional procedure was 0.8%, 1.0%, and 2.2%, respectively (P < .001). The frequency of PTB, respectively, was 6.4%, 6.5%, and 8.4% (P < .001). After adjusting for potential confounding factors, prior excisional procedure but not prior dysplasia alone was associated with PTB. Having a prior cervical excisional procedure but not dysplasia alone is associated with an increased risk of PTB. This association is independent of the presence of a short cervix. Copyright © 2015 Elsevier Inc. All rights reserved.

Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

MedlinePlus

... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts

PubMed Central

Zenker, Martin; Rauch, Anita; Winterpacht, Andreas; Tagariello, Andreas; Kraus, Cornelia; Rupprecht, Thomas; Sticht, Heinrich; Reis, André

2004-01-01

Two disorders, periventricular nodular heterotopia (PVNH) and a group of skeletal dysplasias belonging to the oto-palato-digital (OPD) spectrum, are caused by FLNA mutations. They are considered mutually exclusive because of the different presumed effects of the respective FLNA gene mutations, leading to loss of function (PVNH) and gain of function (OPD), respectively. We describe here the first patient manifesting PVNH in combination with frontometaphyseal dysplasia, a skeletal dysplasia of the OPD-spectrum. A novel de novo mutation, 7315C→A in exon 45 of the FLNA gene, was identified. It leads to two aberrant transcripts, one full-length transcript with the point mutation causing a substitution of a highly conserved leucine residue (L2439M) and a second shortened transcript lacking 21 bp due to the creation of an ectopic splice donor site in exon 45. We propose that the dual phenotype is caused by two functionally different, aberrant filamin A proteins and therefore represents an exceptional model case of allelic gain-of-function and loss-of-function phenotypes due to a single mutational event. PMID:14988809

Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation.

PubMed

Yang, Chen; Dehner, Louis P

2016-11-01

Protein-losing enteropathy is a primary or secondary manifestation of a group of conditions, and etiologies which are broadly divisible into those with mucosal injury on the basis of inflammatory and ulcerative conditions, mucosal injury without erosions or ulcerations, and lymphatic abnormalities. We describe the first case of protein-losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A>T (p.Lys650Met) in exon 15 of the FGFR3 gene. She presented with protein-losing enteropathy in her 6th month. Post-mortem examination revealed lymphangiectasia in the small intestine. To our knowledge, this is the first report of intestinal lymphangiectasia as a complication of skeletal dysplasia resulting in severe protein-losing enteropathy. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

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.

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

PubMed

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

2013-12-01

Cemento-osseous dysplasia may present as a focal, periapical or florid lesion in the mandible or maxilla. The lesion may sometimes appear similar to peri-radicular lesions on a periapical radiograph. This report presents a case with irreversible pulpitis and root resorption as well as a mixed radiolucent/radiopaque lesion around a mandibular molar tooth root. Root canal treatment was performed and because of the radiographic signs of root resorption and the patient's fear of having a malignant disease, periapical surgery was also performed. The histopathology report confirmed the presence of florid cement-osseous dysplasia which was mimicking apical periodontitis. Follow-up radiography 12 months after the surgery illustrated complete healing of the radiolucent area. © 2011 The Authors. Australian Endodontic Journal © 2011 Australian Society of Endodontology.

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

PubMed

Dhar, Reema Sharma; Bora, Amitava

2014-01-01

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

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.

A standardized imaging protocol for the endoscopic prediction of dysplasia within sessile serrated polyps (with video).

PubMed

Tate, David J; Jayanna, Mahesh; Awadie, Halim; Desomer, Lobke; Lee, Ralph; Heitman, Steven J; Sidhu, Mayenaaz; Goodrick, Kathleen; Burgess, Nicholas G; Mahajan, Hema; McLeod, Duncan; Bourke, Michael J

2018-01-01

Dysplasia within sessile serrated polyps (SSPs) is difficult to detect and may be mistaken for an adenoma, risking incomplete resection of the background serrated tissue, and is strongly implicated in interval cancer after colonoscopy. The use of endoscopic imaging to detect dysplasia within SSPs has not been systematically studied. Consecutively detected SSPs ≥8 mm in size were evaluated by using a standardized imaging protocol at a tertiary-care endoscopy center over 3 years. Lesions suspected as SSPs were analyzed with high-definition white light then narrow-band imaging. A demarcated area with a neoplastic pit pattern (Kudo type III/IV, NICE type II) was sought among the serrated tissue. If this was detected, the lesion was labeled dysplastic (sessile serrated polyp with dysplasia); if not, it was labeled non-dysplastic (sessile serrated polyp without dysplasia). Histopathology was reviewed by 2 blinded specialist GI pathologists. A total of 141 SSPs were assessed in 83 patients. Median lesion size was 15.0 mm (interquartile range 10-20), and 54.6% were in the right side of the colon. Endoscopic evidence of dysplasia was detected in 36 of 141 (25.5%) SSPs; of these, 5 of 36 (13.9%) lacked dysplasia at histopathology. Two of 105 (1.9%) endoscopically designated non-dysplastic SSPs had dysplasia at histopathology. Endoscopic imaging, therefore, had an accuracy of 95.0% (95% confidence interval [CI], 90.1%-97.6%) and a negative predictive value of 98.1% (95% CI, 92.6%-99.7%) for detection of dysplasia within SSPs. Dysplasia within SSPs can be detected accurately by using a simple, broadly applicable endoscopic imaging protocol that allows complete resection. Independent validation of this protocol and its dissemination to the wider endoscopic community may have a significant impact on rates of interval cancer. (Clinical trial registration number: NCT03100552.). Copyright © 2018 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All

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

Multidisciplinary management of hypohydrotic ectodermal dysplasia – a case report

PubMed Central

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

2015-01-01

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

Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia.

PubMed

Majoor, B C J; Andela, C D; Quispel, C R; Rotman, M; Dijkstra, P D S; Hamdy, N A T; Kaptein, A A; Appelman-Dijkstra, N M

2018-01-01

Fibrous dysplasia (FD) is a rare bone disorder in which normal bone is replaced by fibrous tissue resulting in pain, deformities, pathological fractures or asymptomatic disease. Illness perceptions are patients' cognitions and emotions about their illness and its treatment, which may impact on Quality of Life (QoL). Here, we explore illness perceptions in patients with FD compared to other disorders, identify factors associated with illness perceptions and evaluate their relationship with QoL. Ninety-seven out of 138 eligible patients from the LUMC FD cohort completed the Illness Perception Questionnaire-Revised (IPQ-R) and the Short Form-36 (SF-36). Age, Gender, Skeletal Burden Score (SBS), FGF-23 levels, type of FD and SF-36 scores were analysed for an association with illness perceptions. We observed significant (p < 0.01) differences in patients' illness perceptions between FD subtypes in the domains: identity, timeline acute/chronic and consequences. Patients with craniofacial FD reported to perceive more consequences (p = 0.022). High SBS was associated with perceiving more negative consequences and attributing the cause of FD to psychological factors (p < 0.01), and high FGF-23 levels with attributing more symptoms to the disease and perceiving more consequences (p < 0.01). The IPQ-R domain identity, timeline acute/chronic, timeline cyclical, consequences, emotional representations and treatment control were significantly associated with impairments in QoL. Illness perceptions in patients with FD relate to QoL, differ from those in patients with other disorders, and are associated with disease severity. Identifying and addressing maladaptive illness perceptions may improve quality of life in patients with FD.

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

PubMed Central

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

1999-01-01

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


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

HPV prevalence and HPV-related dysplasia in elderly women

PubMed Central

Hermansson, Ruth S.; Olovsson, Matts; Hoxell, Emelie

2018-01-01

Introduction In Sweden, where screening ends at the age of 60, about 30% of the cervical cancer cases occur in women older than 60. The aim of the present study was to investigate the prevalence of HPV and cervical dysplasia in women of 60 years and above. Patients and methods From September 2013 until June 2015, 1051 women aged 60–89 years (mean 68 years) were sampled for an HPV test when attending an outpatient gynecology clinic. Women with positive results had a second HPV test and liquid based cytology (LBC), after 3.5 months on average. Those with a positive second HPV test were examined by colposcopy, and biopsy and a sample for LBC was obtained. Results The prevalence of HPV was 4.1%, (95%CI 3.0–5.5, n = 43) at the first test, and at the second test 2.6% remained positive (95%CI 1.7–3.8, n = 27). The majority of women positive in both HPV tests, had dysplasia in histology, 81.5% (22/27) (4 CIN 2–0.4%, 18 CIN 1–1.7%). HPV-related dysplasia was found in 2.1%, (95%CI 1.3–3.2, n = 22) of the 1051 women. Four of the 22 women with positive HPV tests also had abnormal cytology, one ASCUS and three CIN 1. No cancer or glandular dysplasia was detected. Conclusion A significant proportion of elderly women were found to have a persistent cervical HPV infection. Among them there was a high prevalence of CIN diagnosed by histology. The HPV test showed high sensitivity and specificity in detecting CIN in elderly women, while cytology showed extremely low sensitivity. PMID:29320507

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

PubMed

Allali, Slimane; Le Goff, Carine; Pressac-Diebold, Isabelle; Pfennig, Gwendoline; Mahaut, Clémentine; Dagoneau, Nathalie; Alanay, Yasemin; Brady, Angela F; Crow, Yanick J; Devriendt, Koen; Drouin-Garraud, Valérie; Flori, Elisabeth; Geneviève, David; Hennekam, Raoul C; Hurst, Jane; Krakow, Deborah; Le Merrer, Martine; Lichtenbelt, Klaske D; Lynch, Sally A; Lyonnet, Stanislas; MacDermot, Kay; Mansour, Sahar; Megarbané, André; Santos, Heloisa G; Splitt, Miranda; Superti-Furga, Andrea; Unger, Sheila; Williams, Denise; Munnich, Arnold; Cormier-Daire, Valérie

2011-06-01

Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2 gene (ADAMTSL2). Following this study, we have collected the samples of 30 additional GD families, including 33 patients and identified ADAMTSL2 mutations in 14/33 patients, comprising 13 novel mutations. The absence of mutation in 19 patients prompted us to compare the two groups of GD patients, namely group 1, patients with ADAMTSL2 mutations (n=20, also including the 6 patients from our previous study), and group 2, patients without ADAMTSL2 mutations (n=19). The main discriminating features were facial dysmorphism and tip-toe walking, which were almost constantly observed in group 1. No differences were found concerning heart involvement, skin thickness, recurrent respiratory and ear infections, bronchopulmonary insufficiency, laryngo-tracheal stenosis, deafness, and radiographic features. It is concluded that GD is a genetically heterogeneous condition. Ongoing studies will hopefully lead to the identification of another disease gene.

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

PubMed

Komabayashi, Takashi; Zhu, Qiang

2011-03-01

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

Temporal lobe volumes in patients with hippocampal sclerosis with or without cortical dysplasia.

PubMed

Diehl, B; Najm, I; LaPresto, E; Prayson, R; Ruggieri, P; Mohamed, A; Ying, Z; Lieber, M; Babb, T; Bingaman, W; Lüders, H O

2004-05-25

Recent MRI-based volume reconstruction studies in intractable temporal lobe epilepsy (TLE) due to hippocampal sclerosis (HS) suggested atrophy that extends to the adjacent neocortical areas. To study the extent of temporal lobe volume (TLV) abnormalities in patients with pathologically confirmed HS (with or without cortical dysplasia [CD]) who underwent anterior temporal lobectomy for the treatment of drug-resistant TLE. Fifty patients (right TLE: n = 24; left TLE: n = 26) were found to have HS (hippocampal cell loss of >30%). Associated neocortical CD was seen in 20 patients (43%). MRI-based TLVs and hippocampal and hemispheric volume reconstructions in all patients were compared between pathologic groups and with volumes acquired from 10 age-matched control subjects. TLVs ipsilateral to the epileptogenic zone in patients with TLE were smaller than TLVs in control subjects (p < 0.01). In patients with left TLE, TLVs ipsilateral to the epileptogenic zone were smaller than contralateral TLVs (left: 66.6 +/- 8.3 cm3, right: 74.9 +/- 10.0 cm3; p < 0.001). In patients with right TLE, there were no significant asymmetries. The contralateral TLVs (regardless of the side of surgery) were smaller in the HS + CD group than the HS group (HS + CD group: 74.9 +/- 8.6 cm3, HS group: 79.7 +/- 6.6 cm3; p < 0.05). Patients with HS + CD had a tendency to have less hippocampal atrophy and slightly smaller TLVs ipsilateral to the epileptogenic zone, accounting for significantly smaller TLV/hippocampal volume ratios compared with patients with HS alone. Drug-resistant TLE due to HS is associated with extrahippocampal temporal lobe atrophy. The presence of bilateral temporal lobe atrophy is suggestive of a more widespread (bilateral) temporal lobe involvement in patients with HS and CD.

Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.

PubMed Central

MacDermot, K D; Winter, R M; Wigglesworth, J S; Strobel, S

1991-01-01

We report two patients with severe combined immunodeficiency and short stature/short limb skeletal dysplasia. Case 1 presented at birth with rhizomelic shortening of the extremities and bowing of the femora. She developed clinical signs of severe combined immunodeficiency at 13 months and died at 21 months. Case 2 had severe prenatal shortening and bowing of the extremities and a small, malformed chest. Symptoms of severe combined immunodeficiency and severe failure to thrive developed soon after birth and she died at 5 months. The diagnosis of severe combined immunodeficiency in our patients was based on their clinical course and necropsy findings, supported in case 1 by the results of immune function tests. The results of investigation of immune function (immunoglobulins, lymphocyte subpopulations, lymphocyte function) are very variable in this syndrome as in other variants of severe combined immunodeficiency. Bone histopathology in both patients showed grossly irregular costochondral junctions, but normal transition of proliferating to hypertrophic chondrocytes. These cases belong to early lethal type 1 short limb skeletal dysplasia with severe combined immunodeficiency. Review of previously published cases with severe combined immunodeficiency and well documented skeletal findings show eight patients with prenatal onset of bowing and shortening of the extremities and metaphyseal abnormalities. These include two sib pairs concordant for the skeletal changes. In these cases, adenosine deaminase levels were not reported. An additional four published cases with associated adenosine deaminase deficiency had only mild metaphyseal abnormalities, but subsequently showed no linear growth.(ABSTRACT TRUNCATED AT 250 WORDS) Images PMID:1999827

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

PubMed Central

Aravind, Thara; Janardhanan, Mahija; Rakesh, S; Savithri, Vindhya; Unnikrishnan, U G

2017-01-01

Background: Early detection of oral squamous cell carcinoma (OSCC) remains one of the most efficient ways to ensure patient survival and improved quality of life. Although specific biomarkers related to OSCC have been investigated, a useful biomarker that assesses the transition potential of potentially malignant lesion to OSCC remains to be found. Osteopontin (OPN) has been recognized as an important factor in tumorigenesis and their expression in OSCC have been investigated earlier. In the present study, evaluation of OPN expression in premalignant and malignant lesions has been carried out to assess their possible role as a biomarker in the early diagnosis and prognosis of OSCC. Objectives: The objective of this study is to evaluate the role of OPN as a biomarker in the diagnosis and prognosis of OSCC. Materials and Methods: The study group consisted of archival paraffin-embedded blocks of ten cases each of varying grades of OSCC, oral epithelial dysplasias and epithelial hyperplasias. Sections were subjected to immunohistochemical staining for the biomarker OPN. Results: A positive OPN expression was noticed in epithelial dysplasias and SCC arising from the oral epithelium. A progressive increase in the intensity of staining was seen with increasing grades of dysplasias and a decrease in OPN expression with an increase in grades was observed in OSCC. Conclusion: The expression of OPN in full thickness of epithelium in severe dysplasias, carcinoma in situ, and in the superficial epithelium of OSCC suggest the possibility of considering OPN expression in full epithelial thickness in dysplasias as an indicator for malignant transformation. PMID:28479681

DNA methylation as an adjunct to histopathology to detect prevalent, inconspicuous dysplasia and early-stage neoplasia in Barrett’s esophagus

PubMed Central

Alvi, Muhammad A; Liu, Xinxue; O’Donovan, Maria; Newton, Richard; Wernisch, Lorenz; Shannon, Nicholas B; Shariff, Kareem; di Pietro, Massimiliano; Bergman, Jacques J G H M; Ragunath, Krish; Fitzgerald, Rebecca C

2016-01-01

Purpose Endoscopic surveillance of Barrett’s esophagus (BE) is problematic because dysplasia/early-stage neoplasia are frequently invisible and likely to be missed due to sampling bias. Molecular abnormalities may be more diffuse than dysplasia. The aim was therefore to test whether DNA methylation; especially on imprinted and X-chromosome genes; is able to detect dysplasia/early-stage neoplasia. Experimental design 27K methylation arrays were used to find genes best able to differentiate between 22 BE and 24 esophageal adenocarcinoma (EAC) samples. These were validated using pyrosequencing on a retrospective cohort (60 BE, 36 dysplastic and 90 EAC) and then in a prospective multicenter study (98 BE patients, including 28 dysplastic and 9 early EAC) designed to utilize biomarkers to stratify patients according to their prevalent dysplasia/EAC status. Results 23% genes on the array, including 7% of X-linked and 69% of imprinted genes, demonstrated statistically significant changes in methylation in EAC vs. BE (Wilcoxon P<0.05). 6/7 selected candidate genes were successfully internally (Pearson’s P<0.01) and externally validated (ANOVA P<0.001). Four genes (SLC22A18, PIGR, GJA12 and RIN2) showed the greatest area under curve (0.988) to distinguish between BE and dysplasia/EAC in the retrospective cohort. This methylation panel was able to stratify patients from the prospective cohort into three risk groups based on the number of genes methylated (low risk: <2 genes, intermediate: 2 and high: >2). Conclusion Widespread DNA methylation changes were observed in Barrett’s carcinogenesis including ≈70% of known imprinted genes. A four-gene methylation panel stratified BE patients into three risk groups with potential clinical utility. PMID:23243219

Surgical management of an infected aggressive florid cemento-osseous dysplasia. Report of a case.

PubMed

Martini, M Zillo; de Carvalho Júnior, J Pereira; Soares, H Arid

2006-09-01

Florid cemento-osseous dysplasia (FCOD) is a quite rare condition presenting in the jaws and is most seen in middle-aged black women, from the 4th decade of life on. The pathogenesis of the cemento-osseous dysplasias remains unknown; however, they seem to represent some kind of reactional or dysplastic process. We describe an aggressive case of infected florid cemento-osseous dysplasia (IFCOD) in a 47-year-old black woman. Extensive dysplastic lesions affected all jaw quadrants and radiographic features showed images of irregular radiopaque multilobular masses, peripherally lined by a radiolucent layer. We decided to keep the patient in the hospital in order to perform endovenous medication, hydration, drainage and general care. The surgery planning would be started as soon as regression of the acute feature was observed. Histopathologic analysis revealed the lesion was composed by osseous and cementoid tissues, being its diagnosis compatible with FCOD. The surgical procedure was accomplished with the patient under general anesthesia. It was opted for the excision of the lesion in all quadrants, with sequestrectomy and total dental extraction and remodelling of the alveolar ridges. After 9 months of follow-up the patient is still undergoing clinical control, presenting healing within the expected patterns. Symptomatic cases follow-up should be lasting and periodical, since there are reports of recurrence.

Immunohistochemical Expression of MCM-2 in Oral Epithelial Dysplasias.

PubMed

Zakaria, Samar H; Farag, Heba A; Khater, Dina S

2016-03-17

Oral cancer is one of the most frequent cancers in the world. It arises from epithelial dysplasia. Hence, identifying these lesions in an early stage could prevent their malignant transformation. The aim of the present work was to assess the cell proliferative activity of minichromosome maintenance protein (MCM-2) in oral epithelial dysplastic lesions and to correlate the results with different grades of epithelial dysplasia in an attempt to use MCM-2 in the early detection of malignancy. MCM-2 expression was determined by the nuclear count in a total of 30 oral epithelial dysplastic specimens roughly classified into 10 cases of mild, moderate, and severe dysplasia. Five cases of early invasive squamous-cell carcinomas and 5 cases of epithelial hyperplasia were also included. The MCM-2 immunostaining was found to increase gradually from mild to moderate to severe dysplasia and reached its maximum value in early invasive squamous cell carcinoma. MCM-2 is of prognostic value in cases of oral dysplasia that have a tendency to undergo malignant transformation.

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

PubMed

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

2015-04-01

In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4-year-old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term "cerebro-dermato-osseous dysplasia" is introduced to define this condition. © 2015 Wiley Periodicals, Inc.

A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis.

PubMed

Argenziano, G; Monsurrò, M R; Pazienza, R; Delfino, M

1998-02-01

We describe a woman with a probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. Other findings included syndactyly, typical facies, dental abnormalities, dermatoglyphic hypoplasia, epidermal ridge sweat pore count slightly below normal, and keratosis pilaris. Clinical studies and genetic analysis excluded the diagnosis of tuberous sclerosis in our patient. We conclude that she has ectodermal dysplasia associated with mental retardation. This association has been described previously; it suggests the possible interrelationship of a community of ectodermal dysplasia syndromes with a distinctive structural hair abnormality (pili torti et canaliculi), variable midfacial malformations, limb defects, and other features such as mental retardation. The similarity of our patient to that described by Whiting et al. and Abramovits-Ackerman et al. suggests the autonomy of this syndrome.

Clinical forms of actinic keratosis and levels of dysplasia of the epidermis.

PubMed

Oshyvalova, Olena O; Kaliuzhna, Lydia D; Kropelnytskyi, Vladislav O

Introduction: Actinic keratosis (AK) is precancerous skin lesion that occurs in the sun-exposedskin areas characterized by local intraepidermal dysplasia of different severity (KIN I, KIN II and KIN III). The aim of this research was to study distribution patterns and morphological features of AK histological types. Materials and Methods: The study included skin biopsy material from 68 patients with different clinical forms of AK. The diagnosis of AK was histologically confirmed in 100% of cases. Results: There were 63.21% of men and 36.8% of women among all patients with AK. The average age of patients was 73.3 ± 8.3.The most common clinico-histological forms of actinic keratosis were typical (41.2%), hypertrophic (16.2%), atrophic (14.7%) and pigmentary (11.7%), bowenoid (8.8%), acantholytic (7.4%). Among the rate of epidermal dysplasia there diagnosed cases of KIN І (50%), KIN ІІ (36.8%) and KIN III (13.2%). Conclusions: It was found a direct correlation between KIN I and typical and pigment forms of AK, KIN II and hypertrophic and bowenoid forms of AK.

Association of Multifocal Fibromuscular Dysplasia in Elderly Patients With a More Benign Clinical Phenotype: Data From the US Registry for Fibromuscular Dysplasia.

PubMed

Bagh, Imad; Olin, Jeffrey W; Froehlich, James B; Kline-Rogers, Eva; Gray, Bruce; Kim, Esther S H; Sharma, Aditya; Weinberg, Ido; Wells, Bryan J; Gu, Xiaokui; Gornik, Heather L

2018-06-20

Fibromuscular dysplasia (FMD) is a nonatherosclerotic arterial disease that predominately affects women and is most commonly diagnosed in middle age. The natural history of FMD among patients diagnosed at an older age is not well understood. To examine the differences in clinical presentation, arterial bed involvement, vascular events, and need for vascular procedures between younger and older patients with FMD. Analysis of baseline data for patients enrolled in the US Registry for FMD as of December 15, 2016, at referral centers participating in the US Registry for FMD. Patients 18 years and older at the time of enrollment and those with only confirmed multifocal (string of beads type) FMD were included. Patients were categorized according to age at the time of diagnosis (≥65 years vs <65 years). Prevalence of specific symptoms, vascular events, and prior vascular procedures at the time of enrollment in the registry. A total of 1016 patients were included in the analysis, of whom, 170 (16.7%) were 65 years or older at the time of diagnosis. Older patients with FMD were more likely to be asymptomatic at the time of diagnosis (4.2% vs 1.4%; P = .02). Headache and pulsatile tinnitus, both common manifestations of FMD, were less common in older patients (40.5% vs 69.1%; P < .001 and 30% vs 44.6%; P < .001, respectively). Extracranial carotid arteries were more commonly involved in patients 65 years or older at time of diagnosis (87% vs 79.4%; P = .03). There was no difference in prevalence of renal artery involvement, number of arterial beds involved, or diagnosis of any aneurysm. Patients 65 years or older were less likely to have had a major vascular event (37.1% vs 46.1%; P = .03) and fewer had undergone a therapeutic vascular procedure (18.5% vs 33.1%; P < .001). In the US Registry for FMD, patients 65 years or older at the time of diagnosis of multifocal FMD were more likely to be asymptomatic, had lower prevalence of major vascular

Sessile serrated adenomas with dysplasia: morphological patterns and correlations with MLH1 immunohistochemistry.

PubMed

Liu, Cheng; Walker, Neal I; Leggett, Barbara A; Whitehall, Vicki Lj; Bettington, Mark L; Rosty, Christophe

2017-12-01

Sessile serrated adenomas are the precursor polyp of approximately 20% of colorectal carcinomas. Sessile serrated adenomas with dysplasia are rarely encountered and represent an intermediate step to malignant progression, frequently associated with loss of MLH1 expression. Accurate diagnosis of these lesions is important to facilitate appropriate surveillance, particularly because progression from dysplasia to carcinoma can be rapid. The current World Health Organization classification describes two main patterns of dysplasia occurring in sessile serrated adenomas, namely, serrated and conventional. However, this may not adequately reflect the spectrum of changes seen by pathologists in routine practice. Furthermore, subtle patterns of dysplasia that are nevertheless associated with loss of MLH1 expression are not encompassed in this classification. We performed a morphological analysis of 266 sessile serrated adenomas with dysplasia with concurrent MLH1 immunohistochemistry with the aims of better defining the spectrum of dysplasia occurring in these lesions and correlating dysplasia patterns with MLH1 expression. We found that dysplasia can be divided morphologically into four major patterns, comprising minimal deviation (19%), serrated (12%), adenomatous (8%) and not otherwise specified (79%) groups. Minimal deviation dysplasia is defined by minor architectural and cytological changes that typically requires loss of MLH1 immunohistochemical expression to support the diagnosis. Serrated dysplasia and adenomatous dysplasia have distinctive histological features and are less frequently associated with loss of MLH1 expression (13 and 5%, respectively). Finally, dysplasia not otherwise specified encompasses most cases and shows a diverse range of morphological changes that do not fall into the other subgroups and are frequently associated with loss of MLH1 expression (83%). This morphological classification of sessile serrated adenomas with dysplasia may represent an

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.

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.

Hip instability: a review of hip dysplasia and other contributing factors

PubMed Central

Kraeutler, Matthew J.; Garabekyan, Tigran; Pascual-Garrido, Cecilia; Mei-Dan, Omer

2016-01-01

Summary Background Hip instability has classically been associated with developmental dysplasia of the hip (DDH) in newborns and children. However, numerous factors may contribute to hip instability in children, adolescents, and adults. Purpose This review aims to concisely present the literature on hip instability in patients of all ages in order to guide health care professionals in the appropriate diagnosis and treatment of the various disorders which may contribute to an unstable hip. Methods We reviewed the literature on the diagnosis and surgical management of hip dysplasia and other causes of hip instability. Conclusions Multiple intra- and extra-articular variables may contribute to hip instability, including acetabular bony coverage, femoral torsion, femoroacetabular impingement, and soft tissue laxity. Physical examination and advanced imaging studies are essential to accurately diagnose the pathology contributing to a patient’s unstable hip. Conservative management, including activity modification and physical therapy, may be used as a first-line treatment in patients with intra-articular hip pathology. Patients who continue to experience symptoms of pain or instability should proceed with arthroscopic or open surgical treatment aimed at correcting the underlying pathology. Level of evidence V. PMID:28066739

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

PubMed Central

RAUS, IULIAN; COROIU, ROXANA ELENA

2016-01-01

McCune–Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level. The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune – Albright syndrome. PMID:27857528

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

A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia

PubMed Central

Piróg, Katarzyna A.; Jaka, Oihane; Katakura, Yoshihisa; Meadows, Roger S.; Kadler, Karl E.; Boot-Handford, Raymond P.; Briggs, Michael D.

2010-01-01

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias belonging to the same bone dysplasia family. PSACH is characterized by generalized epi-metaphyseal dysplasia, short-limbed dwarfism, joint laxity and early onset osteoarthritis. MED is a milder disease with radiographic features often restricted to the epiphyses of the long bones. PSACH and some forms of MED result from mutations in cartilage oligomeric matrix protein (COMP), a pentameric glycoprotein found in cartilage, tendon, ligament and muscle. PSACH-MED patients often have a mild myopathy characterized by mildly increased plasma creatine kinase levels, a variation in myofibre size and/or small atrophic fibres. In some instances, patients are referred to neuromuscular clinics prior to the diagnosis of an underlying skeletal dysplasia; however, the myopathy associated with PSACH-MED has not previously been studied. In this study, we present a detailed study of skeletal muscle, tendon and ligament from a mouse model of mild PSACH harbouring a COMP mutation. Mutant mice exhibited a progressive muscle weakness associated with an increased number of muscle fibres with central nuclei at the perimysium and at the myotendinous junction. Furthermore, the distribution of collagen fibril diameters in the mutant tendons and ligaments was altered towards thicker collagen fibrils, and the tendons became more lax in cyclic strain tests. We hypothesize that the myopathy in PSACH-MED originates from an underlying tendon and ligament pathology that is a direct result of structural abnormalities to the collagen fibril architecture. This is the first comprehensive characterization of the musculoskeletal phenotype of PSACH-MED and is directly relevant to the clinical management of these patients. PMID:19808781

Radiographic Prevalence of Dysplasia, Cam, and Pincer Deformities in Elite Ballet.

PubMed

Harris, Joshua D; Gerrie, Brayden J; Varner, Kevin E; Lintner, David M; McCulloch, Patrick C

2016-01-01

The demands of hip strength and motion in ballet are high. Hip disorders, such as cam and pincer deformities or dysplasia, may affect dance performance. However, the prevalence of these radiographic findings is unknown. To determine the prevalence of radiographic cam and pincer deformities, borderline dysplasia, and dysplasia in a professional ballet company. Cross-sectional study; Level of evidence, 3. An institutional review board-approved cross-sectional investigation of a professional ballet company was undertaken. Male and female adult dancers were eligible for inclusion. Four plain radiographs were obtained (standing anteroposterior pelvis, bilateral false profile, and supine Dunn 45°) and verified for adequacy. Cam and pincer deformities, dysplasia, borderline dysplasia, and osteoarthritis were defined. All plain radiographic parameters were measured and analyzed on available radiographs. Student t test, chi-square test (and Fisher exact test), and Spearman correlation analyses were performed to compare sexes, groups, and the effect of select radiographic criteria. A total of 47 dancers were analyzed (21 males, 26 females; mean age (±SD), 23.8 ± 5.4 years). Cam deformity was identified in 25.5% (24/94) of hips and 31.9% (15/47) of subjects, with a significantly greater prevalence in male dancers than females (48% hips and 57% subjects vs 8% hips and 12% subjects; P < .001 and P = .001, respectively). Seventy-four percent of subjects had at least 2 of 6 radiographic signs of pincer deformity. Male dancers had a significantly greater prevalence of both prominent ischial spine and posterior wall signs (P = .001 and P < .001, respectively), while female dancers had a significantly greater prevalence of coxa profunda (85% female hips vs 26% male hips; P < .001). Eighty-nine percent of subjects had dysplasia or borderline dysplasia in at least 1 hip (37% dysplastic), with a significantly greater prevalence of dysplasia or borderline dysplasia in female versus

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

PubMed

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

2016-06-01

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

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

PubMed Central

Allali, Slimane; Le Goff, Carine; PressaceDiebold, Isabelle; Pfennig, Gwendoline; Mahaut, Clémentine; Dagoneau, Nathalie; Alanay, Yasemin; Brady, Angela F; Crow, Yanick J; Devriendt, Koen; Drouin-Garraud, Valérie; Flori, Elisabeth; Geneviève, David; Hennekam, Raoul C; Hurst, Jane; Krakow, Deborah; Le Merrer, Martine; Lichtenbelt, Klaske D; Lynch, Sally A; Lyonnet, Stanislas; MacDermot, Kay; Mansour, Sahar; Megarbané, André; Santos, Heloisa G; Splitt, Miranda; Superti-Furga, Andrea; Unger, Sheila; Williams, Denise; Munnich, Arnold; Cormier-Daire, Valérie

2012-01-01

Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterized by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2gene (ADAMTSL2). Methods Following this study, we have collected the samples of 30 additional GD families, including 33 patients and identified ADAMTSL2 mutations in 14/33 patients, comprising 13 novel mutations. The absence of mutation in 19 patients prompted us to compare the two groups of GD patients, namely group 1, patients with ADAMTSL2 mutations (n¼20, also including the 6 patients from our previous study), and group 2, patients without ADAMTSL2 mutations (n¼19). Results The main discriminating features were facial dysmorphism and tip-toe walking, which were almost constantly observed in group 1. No differences were found concerning heart involvement, skin thickness, recurrent respiratory and ear infections, bronchopulmonary insufficiency, laryngo-tracheal stenosis, deafness, and radiographic features. Conclusions It is concluded that GD is a genetically heterogeneous condition. Ongoing studies will hopefully lead to the identification of another disease gene. PMID:21415077

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

PubMed

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

2015-12-01

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

Barrett's oesophagus and associated dysplasia are not equally distributed within the esophageal circumference.

PubMed

Bibbò, Stefano; Ianiro, Gianluca; Ricci, Riccardo; Arciuolo, Damiano; Petruzziello, Lucio; Spada, Cristiano; Larghi, Alberto; Riccioni, Maria Elena; Gasbarrini, Antonio; Costamagna, Guido; Cammarota, Giovanni

2016-09-01

A careful endoscopic surveillance of Barrett's oesophagus is warranted to prevent esophageal cancer. To identify the preferred location of non-circumferential Barrett's oesophagus and associated dysplasia within the esophageal circumference. We retrospectively reviewed a prospectively maintained database of patients with non-circumferential lesions. The location of metaplastic lesions and dysplastic lesions within the esophageal circumference was identified as on a clock face, and their distribution in the 4 quadrants was compared. Of overall 443 patients with Barrett's oesophagus, 192 (43%) were eligible for our study. Multiple lesions were diagnosed in 110 (57%) of them, for a total amount of 352 metaplastic areas. Barrett's oesophagus lesions were located significantly more in the posterior wall of the oesophagus (38.4%), rather than in the right wall (28.8%), the anterior wall (22.6%), or the left wall (10.2%) (P<0.0001). Among all metaplastic lesions, 28 were associated with dysplasia (7.9%), and one with adenocarcinoma (0.3%). Dysplastic lesions were significantly more common in the posterior wall (39.3%) than, respectively, in the anterior wall (35.8%), the right wall (21.4%) or the left wall (3.5%) (P=0.03). Our results show that the posterior wall of the oesophagus is the preferential location of both Barrett's oesophagus and associated dysplasia. Copyright © 2016 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Presence or absence of intestinal metaplasia but not its burden is associated with prevalent high-grade dysplasia and cancer in Barrett's esophagus.

PubMed

Bansal, A; McGregor, D H; Anand, O; Singh, M; Rao, D; Cherian, R; Wani, S B; Rastogi, A; Singh, V; House, J; Jones, P G; Sharma, P

2014-01-01

Universal agreement on the inclusion of intestinal metaplasia to diagnose Barrett's esophagus (BE) is lacking. Our aim was to determine the association of intestinal metaplasia and its density with the prevalence of dysplasia/cancer in columnar lined esophagus (CLE). Patients with CLE but no intestinal metaplasia (CLE-no IM) were identified by querying the clinical pathology database using SNOMED codes for distal esophageal biopsies. CLE-IM patients were identified from a prospectively maintained database of BE patients. Subsequently, relative risks for prevalent dysplasia and cancer were calculated. Since patients with CLE-no IM are not usually enrolled in surveillance, only prevalent dysplasia/cancer on index endoscopy was analyzed. Goblet cell density and percent intestinal metaplasia were estimated. All biopsy slides were reviewed for dysplasia by two experienced gastrointestinal pathologists. Two hundred sixty-two CLE-IM and 260 CLE-no IM patients were included (age 64±12 vs. 60±11 years, P=0.001; whites 92% vs. 82%, P=0.001; males 99.7% vs. 99.3%, P=NS; CLE length 3.4±3.2 vears 1.4±0.4 cm, P=0.001 and hiatus hernia 64% vs. 56%, P=0.013). The odds of finding low-grade dysplasia and of high-grade dysplasia (HGD)/cancer were 12.5-fold (2.9-53.8, P=0.007) and 4.2-fold (95% CI 1.4-13, P=0.01) higher, respectively, in the CLE-IM group. Reanalysis after controlling for important variables of age, race, and length did not significantly alter the overall results. In CLE-IM group, when patients with high (>50/LPF) versus low goblet cell density (<50/LPF) and <10% versus >10% intestinal metaplasia were compared, the odds of HGD/cancer, OR 1.5 (0.5-4.9, P=0.5) and 1.97 (0.54-7.22), respectively, were not significantly higher. Demonstration of intestinal metaplasia continues to be an essential element in the definition of BE, but its quantification may not be useful for risk stratification of HGD/cancer in BE. © 2013 Wiley Periodicals, Inc. and the International

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cotroneo, Antonio Raffaele; Amoroso, Luigi; Giammarino, Alberto

PurposeTo 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).Materials and MethodsFrom 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.ResultsAll treatments were technically successful. Recurrence of hypertension was found in two patients within 12 months, and reinterventions were performed using CBA.ConclusionResults show the efficacy of CBA for renal artery FMD.

Hypermethylated ZNF582 and PAX1 genes in mouth rinse samples as biomarkers for oral dysplasia and oral cancer detection.

PubMed

Cheng, Shih-Jung; Chang, Chi-Feng; Ko, Hui-Hsin; Lee, Jang-Jaer; Chen, Hsin-Ming; Wang, Huei-Jen; Lin, Hsiao-Shan; Chiang, Chun-Pin

2018-02-01

Effective biomarkers for oral cancer screening are important for early diagnosis and treatment of oral cancer. Oral epithelial cell samples collected by mouth rinse were obtained from 65 normal control subjects, 108 patients with oral potentially malignant disorders, and 94 patients with oral squamous cell carcinoma (OSCC). Methylation levels of zinc-finger protein 582 (ZNF582) and paired-box 1 (PAX1) genes were quantified by real-time methylation-specific polymerase chain reaction after bisulfite conversion. An abrupt increase in methylated ZNF582 (ZNF582 m ) and PAX1 (PAX1 m ) levels and positive rates from mild dysplasia to moderate/severe dysplasia, indicating that both ZNF582 m and PAX1 m are effective biomarkers for differentiating moderate dysplasia or worse (MODY+) oral lesions. When ZNF582 m /PAX1 m tests were used for identifying MODY+ oral lesions, the sensitivity, specificity, and odds ratio (OR) were 0.65/0.64, 0.75/0.82, and 5.6/8.0, respectively. Hypermethylated ZNF582 and PAX1 genes in oral epithelial cells collected by mouth rinse are effective biomarkers for the detection of oral dysplasia and oral cancer. © 2017 Wiley Periodicals, Inc.

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.

Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders

PubMed Central

Boulet, Cedric; Madani, Hardi; Lenchik, Leon; Vanhoenacker, Filip; Amalnath, Deepak S; de Mey, Johan

2016-01-01

There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis, osteopathia striata, osteopetrosis, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis and pyknodysostosis. Non-hereditary dysplasias include melorheostosis, intramedullary osteosclerosis and overlap syndromes. Although many of these dysplasias are uncommon, radiologists should be familiar with their genetic, clinical and imaging findings to allow for differentiation from acquired causes of bony sclerosis. We present an overview of hereditary and non-hereditary bony dysplasias with focus on the pathogenesis, clinical and radiographic findings of each disorder. PMID:26898950

Follicular dysplasia in five Weimaraners.

PubMed

Laffort-Dassot, Catherine; Beco, Luc; Carlotti, Didier Noel

2002-10-01

This study evaluated the clinical and histopathological features and results of light and electron scanning microscopy assessments of follicular dysplasia in five Weimar Pointers. The data were compared with those obtained in three normal Weimaraners. In our study, this dermatosis affected young adults that showed progressive alopecia of the trunk (head and limbs were spared) associated with recurrent folliculitis/furunculosis. Exclusion of other dermatoses and the presence of histopathological lesions and hair shafts abnormalities seen in light and/or scanning electron microscopy similar to colour dilution alopecia led to the diagnosis of follicular dysplasia. The lesions we observed are the same as those described previously in colour dilution alopecia, but they were less pronounced in all our samples.

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.

Preliminary application of computer-assisted patient-specific acetabular navigational template for total hip arthroplasty in adult single development dysplasia of the hip.

PubMed

Zhang, Yuan Z; Chen, Bin; Lu, Sheng; Yang, Yong; Zhao, Jian M; Liu, Rui; Li, Yan B; Pei, Guo X

2011-12-01

The considerable variation in anatomical abnormalities of hip joints associated with different types of developmental dysplasia of hip (DDH) makes reconstruction in total hip arthroplasty (THA) difficult. It is desirable to create patient-specific designs for THA procedures. In the cases of adult single DDH, an accuracy-improved method has been developed for acetabular cup prosthesis implantation of hip arthroplasty. From October 2007 to November 2008, 22 patients with single DDH (according to the Crowe standard, all dysplasia hips were classified as type I) were scanned with spiral CT pre-operatively. These patients scheduled for THA were randomly assigned to undergo either conventional THA (control group, n = 11) or navigation template implantation (NT group, n = 11). In the NT group, three-dimensional (3D) CT pelvis image data were transferred to a computer workstation and 3D models of the hip were reconstructed using the Mimics software. The 3D models were then processed by the Imageware software. In brief, a template that best fitted the location and shape of the acetabular cup was 'reversely' built from the 3D model, the rotation centre of the pathological hip determined by mirroring that of the healthy site, and a guiding hole in the template was then designed. The navigational templates were manufactured using a rapid prototyping machine. These navigation templates guide acetabular component placement. Based on the predetermined abduction angle 45° and anteversion angle 18°, after 1 year follow-up, the NT group showed significantly smaller differences (1.6° ± 0.4°, 1.9° ± 1.1°) from the predetermined angles than those in the control group (5.8° ± 2.9°, 3.9° ± 2.5°) (P < 0.05). The template designs facilitated accurate placement of acetabular components in dysplasia of acetabulum. The hip's center of rotation in DDH could be established using computer-aided design, which provides a useful method for the accurate

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.

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

PubMed Central

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

2015-01-01

Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable paediatric epilepsy. In this study we performed multiplex targeted sequencing of 10 genes in the PI3K/AKT pathway on brain tissue from 33 children who underwent surgical resection of dysplastic cortex for the treatment of intractable epilepsy. Sequencing results were correlated with clinical, imaging, pathological and immunohistological phenotypes. We identified mosaic activating mutations in PIK3CA and AKT3 in this cohort, including cancer-associated hotspot PIK3CA mutations in dysplastic megalencephaly, hemimegalencephaly, and focal cortical dysplasia type IIa. In addition, a germline PTEN mutation was identified in a male with hemimegalencephaly but no peripheral manifestations of the PTEN hamartoma tumour syndrome. A spectrum of clinical, imaging and pathological abnormalities was found in this cohort. While patients with more severe brain imaging abnormalities and systemic manifestations were more likely to have detected mutations, routine histopathological studies did not predict mutation status. In addition, elevated levels of phosphorylated S6 ribosomal protein were identified in both neurons and astrocytes of all hemimegalencephaly and focal cortical dysplasia type II specimens, regardless of the presence or absence of detected PI3K/AKT pathway mutations. In contrast, expression patterns of the T308 and S473 phosphorylated forms of AKT and in vitro AKT kinase activities discriminated between mutation-positive dysplasia cortex, mutation-negative dysplasia cortex, and non-dysplasia epilepsy cortex. Our findings identify PI3K/AKT pathway mutations as an important cause of epileptogenic brain malformations and establish megalencephaly, hemimegalencephaly, and focal cortical dysplasia as part of a single pathogenic spectrum. PMID:25722288

Clinical relevance of the utilization of vital Lugol's iodine staining in detection and diagnosis of oral cancer and dysplasia.

PubMed

Elimairi, Imad; Altay, Mehmet Ali; Abdoun, Omer; Elimairi, Amr; Tozoglu, Sinan; Baur, Dale A; Quereshy, Faisal

2017-03-01

The aim of this study is to assess the clinical relevance of the utilization of vital Lugol's iodine staining in detection of oral cancer and dysplastic lesions as well as demarcation of the extent of these lesions. A prospective, cross-sectional, hospital-based study was performed in Khartoum Teaching Dental Hospital, Sudan. Suspicious oral epithelial lesions indicating incisional biopsy were stained with 10 % Lugol's iodine solution and were clinically designated as "negative" for dysplasia or neoplasia when no unstained lesion (USL) area was observed, or as "positive" when a USL area is observed. Incisional biopsies involving both the unstained portion and the stained portion were obtained and histologically evaluated for definitive diagnosis. Forty-five biopsies were obtained from 28 patients. Histopathological examination of the specimens confirmed some degree of dysplasia or neoplasia in all clinically positive specimens with oral squamous cell carcinoma (OSCC) being the most common definitive diagnosis (17 patients, 60.7 %). Clinical relevance level of vital Lugol's iodine staining in detecting oral cancer and dysplasia was found to be 90.9 % (SE = 0.05, P = 0.05). The findings of this study showed that Lugol's iodine is an easy, safe, and effective method of visualizing oral epithelial lesions and differentiating epithelial carcinoma and dysplasia from other benign mucosal lesions. Despite certain limitations, its use is of great value in detection and diagnosis of oral cancer and dysplasia. Lugol's iodine staining can effectively be used in detection of the dysplastic and malignant superficial lesions of the oral epithelium.

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.

Anal cytology, histopathology and anoscopy in an anal dysplasia screening program: is anal cytology enough?

PubMed

Silva, Marco; Peixoto, Armando; Sarmento, José Alexandre; Coelho, Rosa; Macedo, Guilherme

2018-02-01

The human papilloma virus is the leading cause of anal squamous cell carcinoma. Cytological screening may reduce the associated morbidity and mortality. The aim of the study was to estimate the agreement between anal cytological examination, histopathology and anoscopic visual impression. A prospective study of patients who underwent anal dysplasia screening between 2011 and 2015, in a proctology clinic of a tertiary referral center. During the study period, 141 patients (91% men, 87% with HIV infection) underwent 175 anal cytology tests. Of these, 33% were negative for intraepithelial lesions or malignancy (NILM), 22% were atypical squamous cells of uncertain significance (ASCUS), 33% were low-grade squamous intraepithelial lesion (LSIL) and 12% were high-grade squamous intraepithelial lesion (HSIL). With regard to anoscopic visual impression, 46% of patients had no lesions and excision/biopsy of the identified lesions was performed in the remaining patients. The weighted kappa-agreement between abnormal cytological results and anoscopic visual impression was moderate (k = 0.48). The weighted kappa-agreement between simultaneous anal cytological examinations and anal histopathologic findings was low (kappa = 0.20). With regard to the histological examination of cases with HSIL or superficially invasive squamous cell carcinoma, 64% of patients had dysplasia of a lower grade according to the cytological analysis (6 ASCUS, 18 LSIL and 4 NILM). There was a poor correlation between anal cytology, histopathology and anoscopic visual impression and a high number of histological studies of HGD that were of a lower dysplastic degree according to the cytological examination. Therefore, anal cytology screening should not be used as the sole method of anal dysplasia screening.

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.

[Frequency of oral squamous cell carcinoma and oral epithelial dysplasia in oral and oropharyngeal mucosa in Chile].

PubMed

Martínez, Carolina; Hernández, Marcela; Martínez, Benjamín; Adorno, Daniela

2016-02-01

Oral cancer in Chile corresponds approximately to 1.6% of all cancer cases. There are few studies about oral epithelial dysplasia and oral squamous cell carcinoma in the Chilean population. To determine the frequency of hyperkeratosis, mild, moderate and severe oral epithelial dysplasia, in situ carcinoma and squamous cell carcinoma of the oral and oropharyngeal mucosa in a registry of the Oral Pathology Reference Institute of the Faculty of Dentistry, Universidad de Chile, in a ten years period. Review of clinical records and pathological plates of 389 patients, obtained between 1990 and 2009. Cases were selected according to their pathological diagnosis, including hyperkeratosis, oral epithelial dysplasia, in situ carcinoma, squamous cell carcinoma and verrucous carcinoma. Forty four percent of cases were squamous cell carcinoma, followed by hyperkeratosis in 37% and mild epithelial dysplasia in 11%. Squamous cell carcinoma was more common in men aged over 50 years. Most of the potentially malignant disorders presented clinically as leukoplakia and squamous cell carcinoma were clinically recognized as cancer. In this study, men aged over 50 years are the highest risk group for oral cancer. Early diagnosis is deficient since most of these lesions were diagnosed when squamous cell carcinoma became invasive. Leukoplakia diagnosis is mostly associated with hyperkeratosis and epithelial dysplasia, therefore biopsy of these lesions is mandatory to improve early diagnosis.

The role of intraoperative MRI in resective epilepsy surgery for peri-eloquent cortex cortical dysplasias and heterotopias in pediatric patients.

PubMed

Sacino, Matthew F; Ho, Cheng-Ying; Murnick, Jonathan; Keating, Robert F; Gaillard, William D; Oluigbo, Chima O

2016-03-01

Previous studies have demonstrated that an important factor in seizure freedom following surgery for lesional epilepsy in the peri-eloquent cortex is completeness of resection. However, aggressive resection of epileptic tissue localized to this region must be balanced with the competing objective of retaining postoperative neurological functioning. The objective of this study was to investigate the role of intraoperative MRI (iMRI) as a complement to existing epilepsy protocol techniques and to compare rates of seizure freedom and neurological deficit in pediatric patients undergoing resection of perieloquent lesions. The authors retrospectively reviewed the medical records of pediatric patients who underwent resection of focal cortical dysplasia (FCD) or heterotopia localized to eloquent cortex regions at the Children's National Health System between March 2005 and August 2015. Patients were grouped into two categories depending on whether they underwent conventional resection (n = 18) or iMRI-assisted resection (n = 11). Patient records were reviewed for factors including demographics, length of hospitalization, postoperative seizure freedom, postoperative neurological deficit, and need for reoperation. Postsurgical seizure outcome was assessed at the last postoperative follow-up evaluation using the Engel Epilepsy Surgery Outcome Scale. At the time of the last postoperative follow-up examination, 9 (82%) of the 11 patients in the iMRI resection group were seizure free (Engel Class I), compared with 7 (39%) of the 18 patients in the control resection group (p = 0.05). Ten (91%) of the 11 patients in the iMRI cohort achieved gross-total resection (GTR), compared with 8 (44%) of 18 patients in the conventional resection cohort (p = 0.02). One patient in the iMRI-assisted resection group underwent successful reoperation at a later date for residual dysplasia, compared with 7 patients in the conventional resection cohort (with 2/7 achieving complete resection). Four

Risk factors for cervical dysplasia in Kerala, India.

PubMed Central

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

1999-01-01

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

Preoperative endoscopic titanium clip placement facilitates intraoperative localization of early-stage esophageal cancer or severe dysplasia.

PubMed

Tan, Lei; Feng, Juan; Zhao, Qin; Chen, Ping; Yang, Guotao

2017-08-02

Accurate intraoperative localization of esophageal lesions is essential for successful surgical resection. We tested whether preoperative endoscopic placement of titanium clips could facilitate intraoperative localization of early-stage esophageal cancer or severe dysplasia. A prospective randomized clinical trial was performed between May 2012 and July 2014. All enrolled patients received preoperative endoscopy and esophageal endoscopic ultrasound, as well as pathological study on the biopsy specimen, to confirm early stage esophageal cancer or severe dysplasia. One day before the surgical operation, patients in the experimental group received the preoperative endoscopic titanium labeling of esophageal lesions. Then, during the surgical operation, palpitation of titanium clips was used to localize the lesions in these patients. In patients in the control group, palpitation of nodules or esophageal wall mucosal thickening, together with the consideration of the results from preoperative endoscopic and ultrasound studies, was applied to estimate the location of the esophageal lesions. Study outcomes included the proportions of patients having successful intraoperative pre-resection lesion localization, post-esophagectomy lesion visualization, negative upper surgical margin, change of surgical approaches, and positive postoperative pathological diagnosis. A total of 27 patients were enrolled into the study, with 14 in the experimental group and 13 in the control group. Compared to the patients in the control group, a higher proportion of patients in the experimental group had statistically significant successful intraoperative esophageal lesion localization (100 versus 15.3% in the experimental versus control group). Preoperative endoscopic titanium clip placement could facilitate intraoperative localization of early-stage esophageal cancer or severe dysplasia. Current study was registered in Chinese Clinical Trial Registry and World Health Organization International

Implant-based oral rehabilitation of a variant model of type I dentinal dysplasia: A rare case report

PubMed Central

Nettem, Sowmya; Nettemu, Sunil Kumar; Basha, K.; Venkatachalapathi, S

2014-01-01

Dentin dysplasia is an exceptionally rare, autosomal-dominant, hereditary condition, primarily characterized by defective dentin formation affecting both the deciduous and permanent dentitions. The etiology remains imprecise to date, in spite of the numerous hypotheses put forward and the constant updates on this condition. This case report of type I dentin dysplasia exhibits radiographic findings that are unique and diverse from the classical findings of various subtypes of this disease reported to date. This article also depicts the implant-based oral rehabilitation of the young patient diagnosed with this variant model of dentin dysplasia type I. Early diagnosis and implementation of this preventive and curative therapy is vital for avoiding premature exfoliation of deciduous and permanent dentition and the associated residual ridge resorption, thereby overcoming functional and esthetic deficits and ensuring protection of the remaining dentition from further harm. PMID:25225567

VERTEBRAL DYSPLASIA IN YOUNG FISH EXPOSED TO THE HERBICIDE TRIFLURALIN

EPA Science Inventory

Sheepshead minnows, Cyprinodon variegatus Lacepede, exposed to 5-5 to 31 micrograms/l of the herbicide trifluralin, throughout their first 28 days of life, developed a heretofore, undescribed vertebral dysplasia. This dysplasia consisted of semisymmetrical hypertrophy of vertebra...

The Radiograph of the Pelvis as a Window to Skeletal Dysplasias.

PubMed

Gajarajulu, Vijayalakshmi; Natarajan, Balakrishnan; Muralinath, S

2016-06-01

Skeletal dysplasias are disorders of bone formation. There are many dysplasias that have been identified and studied over the years and long lists of radiological features have been documented; it is not possible to remember all of them, most of which are common to more than one dysplasia. This article is about a practical approach to the radiological diagnosis of skeletal dysplasias by viewing only a few radiographs rather than the entire skeletal survey. The radiographs that are to be studied are AP view of the pelvis, dorsolumbar spine- AP and lateral view and both hands PA view, in that order. The skull lateral view and both knees AP view are sometimes required. The authors advice to set out with the pelvis that provides information of not only the pelvic bones but also parts of the lumbar spine and the upper ends of the femur including their epiphyses, metaphyses and a part of the diaphyses. Sometimes the diagnosis is reached with only this one radiograph, as in achondroplasia or it may indicate a group like mucopolysaccharidoses which can be sorted out with radiographs of the spine and hands or the upper part of the femur can provide a cue to epiphyseal and metaphyseal dysplasias. Gamuts and atlases can be consulted for the rare dysplasias.

Office-based 532-nm pulsed KTP laser treatment of glottal papillomatosis and dysplasia.

PubMed

Zeitels, Steven M; Akst, Lee M; Burns, James A; Hillman, Robert E; Broadhurst, Matthew S; Anderson, R Rox

2006-09-01

Treatment of glottal papillomatosis and dysplasia was mirror-guided and done in surgeons' offices in the 19th century. It migrated to the operating room in the 20th century to accommodate direct laryngoscopic surgery, which required assistants to administer anesthesia and procedural support. The primary treatment goals, which are disease regression and voice restoration and/or maintenance, are tempered by the morbidity of general anesthesia and potential treatment-induced vocal deterioration. To obviate general anesthesia, office-based laser laryngeal surgery was first done in 2001 with the 585-nm pulsed dye laser (PDL), because it employs a fiber delivery system and its energy is selectively absorbed by oxyhemoglobin. Since then, this new angiolytic laser treatment paradigm has become a mainstay of management for many surgeons; however, there are a number of shortcomings of the PDL. To further develop this concept and address the limitations of the PDL, we used a 532-nm pulsed potassium titanyl phosphate (KTP) laser. A prospective assessment was performed on 48 patients in 72 cases of recurrent glottal dysplasia (36) or papillomatosis (36). All individuals had previously undergone microlaryngoscopic management with histopathologic evaluation. Two dysplasia patients did not tolerate the procedure. Of the treatable dysplasia cases, there was follow-up in 29 of 34. Disease regression was at least 75% in 18 of 29 cases (62%), 50% to 75% in 7 of 29 (24%), and 25% to 50% in the remaining 4 of 29 (14%). Papilloma patients returned for treatment when symptoms recurred, so disease regression could not be assessed accurately. Similar to data obtained with the PDL, these data confirmed that dysplastic mucosa could normalize without resection. Our observations revealed that the 532-nm pulsed KTP laser provided enhanced performance over the PDL laser in a number of ways. The ability to use smaller glass fibers precluded mechanical trauma to the channels of the flexible

Florid Cemento-Osseous Dysplasia Simultaneous the Chronic Suppurative Osteomyelitis in Mandible.

PubMed

Cavalcante, Mateus Barros; de Oliveira Lima, Amanda Laísa; Júnior, Marcus Antônio Brêda; Santos, Milkle Bruno Pessoa

2016-11-01

The florid cemento-osseous dysplasia is an uncommon condition nonneoplastic, of unknown cause with higher prevalence in melanodermic women, limited the maxillary bones, is characterized by the presence of dispersed and diffuse radiopaque calcifications, constituted of bone and dense cemento; however, when the bone is infected it induces the suppuration and formation of osseous sequestra, thus resulting in an osteomyelitis frame. The patient was attended in a Dental Specialties Center in the state of Alagoas, Brazil, presenting on clinical examination edema and extra oral fistula with pus drainage in hemiface submandibular of the right side. Radiographically it was possible to observe area of sclerosis and osseous sequestra involving the right side region of the mandible body, and it increases zones of the bone density. In association with clinical data and complementary diagnosis examinations, the option of treatment adopted was the complete removal of the bone fragment, followed by adaptation and plate fixation and titanium screws to reduce the risk of mandibular fracture. The aim of the present paper was to relate a clinical patient of florid cemento-osseous dysplasia simultaneous the chronic suppurative osteomyelitis, highlighting their clinical, radiographic, and histological characteristics, as well as their diagnosis and treatment.

Repeat surgery for focal cortical dysplasias in children: indications and outcomes.

PubMed

Sacino, Matthew F; Ho, Cheng-Ying; Whitehead, Matthew T; Kao, Amy; Depositario-Cabacar, Dewi; Myseros, John S; Magge, Suresh N; Keating, Robert F; Gaillard, William D; Oluigbo, Chima O

2017-02-01

OBJECTIVE Focal cortical dysplasia (FCD) is a common cause of medically intractable epilepsy that often may be treated by surgery. Following resection, many patients continue to experience seizures, necessitating a decision for further surgery to achieve the desired seizure outcomes. Few studies exist on the efficacy of reoperation for intractable epilepsy due to FCD in pediatric cohorts, including the definition of prognostic factors correlated with clinical benefit from further resection. METHODS The authors retrospectively analyzed the medical records and MR images of 22 consecutive pediatric patients who underwent repeat FCD resection after unsuccessful first surgery at the Children's National Health System between March 2005 and April 2015. RESULTS Accounting for all reoperations, 13 (59%) of the 22 patients achieved complete seizure freedom and another 5 patients (23%) achieved significant improvement in seizure control. Univariate analysis demonstrated that concordance in electrocorticography (ECoG) and MRI localization (p = 0.005), and completeness of resection (p = 0.0001), were associated with seizure freedom after the first reoperation. Patients with discordant ECoG and MRI findings ultimately benefited from aggressive multilobe lobectomy or hemispherectomy. Repeat lesionectomies utilizing intraoperative MRI (iMRI; n = 9) achieved complete resection and seizure freedom in all cases. CONCLUSIONS Reoperation may be clinically beneficial in patients with intractable epilepsy due to FCD. Patients with concordant intraoperative ECoG and MRI localization may benefit from extended resection of residual dysplasia at the margins of the previous lesional cavity, and iMRI may offer benefits as a quality control mechanism to ensure that a complete resection has been accomplished. Patients with discordant findings may benefit from more aggressive resections at earlier stages to achieve better seizure control and ensure functional plasticity.

Angle-resolved low-coherence interferometry: an optical biopsy technique for clinical detection of dysplasia in Barrett’s esophagus

PubMed Central

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

2012-01-01

Angle-resolved low-coherence interferometry (a/LCI) is an optical biopsy technique that measures scattered light from tissue to determine nuclear size with submicron-level accuracy. The a/LCI probe can be deployed through the accessory channel of a standard endoscope and provides feedback to physicians to guide physical biopsies. The technique has been validated in animal and ex vivo human studies, and has been used to detect dysplasia in Barrett’s esophagus patients in vivo. In a recent clinical study of 46 Barrett’s esophagus patients, a/LCI was able to detect dysplasia with 100% sensitivity and 84% specificity. This report reviews the technique and discusses its potential clinical utility. PMID:22149580

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

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

PubMed

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

2015-06-01

Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable paediatric epilepsy. In this study we performed multiplex targeted sequencing of 10 genes in the PI3K/AKT pathway on brain tissue from 33 children who underwent surgical resection of dysplastic cortex for the treatment of intractable epilepsy. Sequencing results were correlated with clinical, imaging, pathological and immunohistological phenotypes. We identified mosaic activating mutations in PIK3CA and AKT3 in this cohort, including cancer-associated hotspot PIK3CA mutations in dysplastic megalencephaly, hemimegalencephaly, and focal cortical dysplasia type IIa. In addition, a germline PTEN mutation was identified in a male with hemimegalencephaly but no peripheral manifestations of the PTEN hamartoma tumour syndrome. A spectrum of clinical, imaging and pathological abnormalities was found in this cohort. While patients with more severe brain imaging abnormalities and systemic manifestations were more likely to have detected mutations, routine histopathological studies did not predict mutation status. In addition, elevated levels of phosphorylated S6 ribosomal protein were identified in both neurons and astrocytes of all hemimegalencephaly and focal cortical dysplasia type II specimens, regardless of the presence or absence of detected PI3K/AKT pathway mutations. In contrast, expression patterns of the T308 and S473 phosphorylated forms of AKT and in vitro AKT kinase activities discriminated between mutation-positive dysplasia cortex, mutation-negative dysplasia cortex, and non-dysplasia epilepsy cortex. Our findings identify PI3K/AKT pathway mutations as an important cause of epileptogenic brain malformations and establish megalencephaly, hemimegalencephaly, and focal cortical dysplasia as part of a single pathogenic spectrum. © The Author (2015). Published by Oxford University Press

Optical coherence tomography allows for the reliable identification of laryngeal epithelial dysplasia and for precise biopsy: a clinicopathological study of 61 patients undergoing microlaryngoscopy.

PubMed

Just, Tino; Lankenau, Eva; Prall, Friedrich; Hüttmann, Gereon; Pau, Hans Wilhelm; Sommer, Konrad

2010-10-01

A newly developed microscope-based spectral-domain optical coherence tomography (SD-OCT) device and an endoscope-based time-domain OCT (TD-OCT) were used to assess the inter-rater reliability, sensitivity, specificity, and accuracy of benign and dysplastic laryngeal epithelial lesions. Prospective study. OCT during microlaryngoscopy was done on 35 patients with an endoscope-based TD-OCT, and on 26 patients by an SD-OCT system integrated into an operating microscope. Biopsies were taken from microscopically suspicious lesions allowing comparative study of OCT images and histology. Thickness of the epithelium was seen to be the main criterion for degree of dysplasia. The inter-rater reliability for two observers was found to be kappa = 0.74 (P <.001) for OCT. OCT provided test outcomes for differentiation between benign laryngeal lesions and dysplasia/CIS with sensitivity of 88%, specificity of 89%, PPV of 85%, NPV of 91%, and predictive accuracy of 88%. However, because of the limited penetration depth of the laser light primarily in hyperkeratotic lesions (thickness above 1.5 mm), the basal cell layer was no longer visible, precluding reliable assessment of such lesions. OCT allows for a fairly accurate assessment of benign and dysplastic laryngeal epithelial lesion and greatly facilitates the taking of precise biopsies. Laryngoscope, 2010.

Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.

PubMed

Yoshioka, Takakazu; Nishikomori, Ryuta; Hara, Junichi; Okada, Keiko; Hashii, Yoshiko; Okafuji, Ikuo; Nodomi, Seishiro; Kawai, Tomoki; Izawa, Kazushi; Ohnishi, Hidenori; Yasumi, Takahiro; Nakahata, Tatsutoshi; Heike, Toshio

2013-10-01

Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized by hypohidrosis, dental abnormalities, sparse hair, and immunodeficiency. Autosomal dominant (AD)-EDA-ID, caused by a heterozygous mutation within NFKBIA, is very rare and its clinical features remain largely unknown. This study describes a patient with AD-EDA-ID harboring a novel NFKBIA mutation who presented with mild EDA and non-infectious systemic inflammation. The clinical presentation of an AD-EDA-ID patient was described and immunological, genetic, and biochemical analyses were performed, with a focus on nuclear factor kappa B (NF-κB) activation. The patient presented with symptoms of mild EDA-ID, namely sparse hair and hypohidrosis, although a skin biopsy confirmed the presence of sweat glands. There were no dental abnormalities. The patient also suffered from non-infectious inflammation, which responded to systemic corticosteroid therapy; however, the patient remained ill. Immunological analyses revealed reduced Toll-like receptor/IL-1 (TLR/IL-1) and tumor necrosis factor (TNF) receptor family responses to various stimuli. Genetic analysis identified a de novo heterozygous missense mutation, p.Ser36Tyr, in NFKBIA, resulting in defective NFKBIA degradation and impaired NF-κB activation. The patient was diagnosed with AD-EDA-ID and underwent hematopoietic stem cell transplantation. Engraftment was successful, with few signs of acute graft versus host disease. However, the patient suffered hemolytic anemia and thrombocytopenia, and died from a brain hemorrhage due to intractable thrombocytopenia. AD-EDA-ID patients can present with mild ectodermal dysplasia and non-infectious inflammation, rather than with recurrent infections. Also, hematopoietic stem cell transplantation for AD-EDA-ID is still a clinical challenge.

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 ...

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

PubMed

Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

2013-01-01

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1.

PubMed

Tam, Allison; Sliepka, Joseph M; Bellur, Sunil; Bray, Collin Douglas; Lincoln, Christie M; Nagamani, Sandesh C S

2018-05-16

Whereas isolated sphenoid wing dysplasia (SWD) is a well-known clinical feature in neurofibromatosis 1 (NF1), extensive cranial defects involving multiple bones have been rarely reported in this disorder. In this report, we describe the clinical course of a 20-year-old male with NF1 and an extensive cranial bone dysplasia. The large sphenoethmoidal defect was associated with transethmoidal and orbital cephalocele as well as inferolateral herniation of the frontal lobe. In spite of the large defect, the individual did not have any symptoms or complications resulting from the osteopathy. We review the current knowledge of the pathogenesis and management of cranial bone dysplasia in NF1. Copyright © 2018 Elsevier Inc. All rights reserved.

Correlation of serum biomarkers (TSA & LSA) and epithelial dysplasia in early diagnosis of oral precancer and oral cancer.

PubMed

Sawhney, Hemant; Kumar, C Anand

Oral cancer is currently the most frequent cause of cancer-related deaths, which is usually preceded by oral pre-cancerous lesions and conditions. Altered glycosylation of glycoconjugates, such as sialic acid, fucose, etc. are amongst the important molecular changes that accompany malignant transformation. The purpose of our study was to evaluate usefulness of serum Total Sialic Acid (TSA) and serum Lipid-Bound Sialic Acid (LSA) as markers of oral precancerous lesions and histopathologically correlating them with grades of epithelial dysplasia. Blood samples were collected from 50 patients with oral precancer (Leukoplakia & OSMF), 25 patients with untreated oral cancer and 25 healthy subjects. Serum sialic acid (total and lipid bound) levels were measured spectrophotometrically. Tissue samples from all the patients were evaluated for dysplasia. Serum levels of total and lipid bound sialic acid were significantly elevated in patients with oral precancer and cancer when compared with healthy subjects. Analysis of variance test documented that there is progressive rise in serum levels of sialic acid with the degree of dysplastic changes in oral precancer patients. We observed positive correlation between serum levels of the markers and the extent of malignant disease (TNM Clinical staging) as well as histopathological grades. The results suggested that serum levels of TSA and LSA progressively increases with grades of dysplasia in precancerous groups and cancer group, when compared with healthy controls. These glycoconjugates, especially LSA has the clinical utility in indicating a premalignant change.

Incidence of Anal Dysplasia in a Population of High-Risk Women: Observations at a Cervical Pathology Unit.

PubMed

Oliver-Pérez, María de Los Reyes; Bravo Violeta, Victoria; Legorburu Alonso, Beatriz; Betancor Pérez, Diana; Bebia Conesa, Vicente; Jiménez López, Jesús S

2017-10-01

This study aimed to evaluate the incidence of anal dysplasia in women at high risk of developing those lesions and to assess the relationships between positive anal cytology and different risk factors. We performed an observational cross-sectional study involving a patient survey and chart review. The study was conducted at the cervical pathology unit at the Hospital Universitario 12 de Octubre, Madrid, Spain, from 2011 to 2015. Patients were 215 women aged 18 to 65 years old with risk factors for anal dysplasia, for whom anal evaluation was indicated. Anal cytology was performed in all patients. High-resolution anoscopy and anal biopsy were used to investigate abnormalities. All patients completed a survey regarding sexual practices. The patients' demographic and clinical data were collected by using a retrospective chart review. The main outcome measure was the incidence of anal dysplasia in this population. Of the 215 patients, 45 (21.0%) presented with cytological abnormalities (atypical squamous cells of undetermined significance, 13.5%; low-grade squamous intraepithelial lesion, 5.6%; high-grade squamous intraepithelial lesion, 1.9%). Anoscopy was performed in 31 patients (14.4%) and 2 patients (0.9%) had abnormal findings. One case (0.5%) of low-grade anal intraepithelial neoplasia was identified. Only immunosuppression (p = .01) and smoking status (p = .02) were significantly correlated with positive anal cytology results. Limitations of the study include the small single-center sample, a lack of controls, the retrospective design, potential survey response biases, and the nonstandardized survey. The incidence of abnormal cytological findings was 21.0%, whereas low-grade anal intraepithelial was confirmed in 0.5% of the patients. There is a higher incidence of cytological abnormalities among immunosuppressed women and smokers.

Focal cemento-osseous dysplasia masquerading as benign cementoblastoma: A diagnostic dilemma.

PubMed

Rao, Gayathri S; Kamalapur, Muralidhar G; Acharya, Swetha

2014-01-01

Focal cemento-osseous dysplasia (FCOD) is a fibro-osseous lesion that is a nonneoplastic reactive lesion. A case of 47-year-old female patient presenting with a diagnostic dilemma to the clinician is reported. Methods to achieve definitive diagnosis are discussed. FCOD can present with features of periapical pathology or other osseous lesions. Hence, to arrive at a definitive diagnosis biopsy and histopathologic examination is imperative.

Quantitative proteomics of the human skin secretome reveal a reduction in immune defense mediators in ectodermal dysplasia patients.

PubMed

Burian, Marc; Velic, Ana; Matic, Katarina; Günther, Stephanie; Kraft, Beatrice; Gonser, Lena; Forchhammer, Stephan; Tiffert, Yvonne; Naumer, Christian; Krohn, Michael; Berneburg, Mark; Yazdi, Amir S; Maček, Boris; Schittek, Birgit

2015-03-01

In healthy human skin host defense molecules such as antimicrobial peptides (AMPs) contribute to skin immune homeostasis. In patients with the congenital disease ectodermal dysplasia (ED) skin integrity is disturbed and as a result patients have recurrent skin infections. The disease is characterized by developmental abnormalities of ectodermal derivatives and absent or reduced sweating. We hypothesized that ED patients have a reduced skin immune defense because of the reduced ability to sweat. Therefore, we performed a label-free quantitative proteome analysis of wash solution of human skin from ED patients or healthy individuals. A clear-cut difference between both cohorts could be observed in cellular processes related to immunity and host defense. In line with the extensive underrepresentation of proteins of the immune system, dermcidin, a sweat-derived AMP, was reduced in its abundance in the skin secretome of ED patients. In contrast, proteins involved in metabolic/catabolic and biosynthetic processes were enriched in the skin secretome of ED patients. In summary, our proteome profiling provides insights into the actual situation of healthy versus diseased skin. The systematic reduction in immune system and defense-related proteins may contribute to the high susceptibility of ED patients to skin infections and altered skin colonization.

[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. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

Intraoperative MRI-guided resection of focal cortical dysplasia in pediatric patients: technique and outcomes.

PubMed

Sacino, Matthew F; Ho, Cheng-Ying; Murnick, Jonathan; Tsuchida, Tammy; Magge, Suresh N; Keating, Robert F; Gaillard, William D; Oluigbo, Chima O

2016-06-01

OBJECTIVE Previous meta-analysis has demonstrated that the most important factor in seizure freedom following surgery for focal cortical dysplasia (FCD) is completeness of resection. However, intraoperative detection of epileptogenic dysplastic cortical tissue remains a challenge, potentially leading to a partial resection and the need for reoperation. The objective of this study was to determine the role of intraoperative MRI (iMRI) in the intraoperative detection and localization of FCD as well as its impact on surgical decision making, completeness of resection, and seizure control outcomes. METHODS The authors retrospectively reviewed the medical records of pediatric patients who underwent iMRI-assisted resection of FCD at the Children's National Health System between January 2014 and April 2015. Data reviewed included demographics, length of surgery, details of iMRI acquisition, postoperative seizure freedom, and complications. Postsurgical seizure outcome was assessed utilizing the Engel Epilepsy Surgery Outcome Scale. RESULTS Twelve consecutive pediatric patients (8 females and 4 males) underwent iMRI-guided resection of FCD lesions. The mean age at the time of surgery was 8.8 years ± 1.6 years (range 0.7 to 18.8 years), and the mean duration of follow up was 3.5 months ± 1.0 month. The mean age at seizure onset was 2.8 years ± 1.0 year (range birth to 9.0 years). Two patients had Type 1 FCD, 5 patients had Type 2A FCD, 2 patients had Type 2B FCD, and 3 patients had FCD of undetermined classification. iMRI findings impacted intraoperative surgical decision making in 5 (42%) of the 12 patients, who then underwent further exploration of the resection cavity. At the time of the last postoperative follow-up, 11 (92%) of the 12 patients were seizure free (Engel Class I). No patients underwent reoperation following iMRI-guided surgery. CONCLUSIONS iMRI-guided resection of FCD in pediatric patients precluded the need for repeat surgery. Furthermore, it resulted

Lung volume reduction surgery in bronchopulmonary dysplasia.

PubMed

Siaplaouras, J; Heckmann, M; Reiss, I; Schaible, T; Waag, K L; Gortner, L

2003-06-01

We report on a female preterm infant of 29 wk gestational age, who developed acquired lobar emphysema after prolonged artificial ventilation secondary to respiratory disease syndrome and bronchopulmonary dysplasia. The infant underwent atypical segmentectomy at the age of 12 mo because of life-threatening hypoxaemia with pulmonary hypertension and failure of conservative treatment. Lung volume reduction surgery (LVRS) dramatically improved the respiratory function and resulted in adequate weight gain and psychomotor development. In selected cases LVRS can be an option for lobar emphysema in premature infants with severe bronchopulmonary dysplasia.

Three-Dimensional Magnetic Resonance Imaging of Glenohumeral Dysplasia in Neonatal Brachial Plexus Palsy.

PubMed

Eismann, Emily A; Laor, Tal; Cornwall, Roger

2016-01-20

Existing quantitative measurements of glenohumeral dysplasia in children with unresolved neonatal brachial plexus palsy (NBPP) have been mostly limited to the axial plane. The purpose of this study was to describe the three-dimensional (3D) pathoanatomy of glenohumeral dysplasia using 3D magnetic resonance imaging (MRI) reformations. 3D MRI reformations of the scapula, glenoid labrum, and proximal part of the humerus were created from a volume-acquisition proton-density-weighted MRI sequence of both the affected and the unaffected shoulder of seventeen children less than six years of age with unresolved NBPP who had not undergone shoulder surgery. Glenoid retroversion and posterior humeral head displacement were measured on axial 2D images. Humeral head displacement in all planes, labral circumference, glenoid retroversion, glenoid declination, and scapular morphometric values were measured on 3D reformations. Contiguity of the humeral head with the labrum and the shape of the glenoid were classified. Measurements were compared between the affected and unaffected sides. On 3D evaluation, the humeral head was completely posteriorly translated in ten patients but was never outside the glenoid labrum. Instead, in these patients, the humeral head was eccentrically articulating with the dysplastic glenoid and was contained by a posteriorly elongated labrum. Glenoid dysplasia was not limited to the axial plane. Less declination of the glenoid in the coronal plane correlated with greater 3D glenoid retroversion. Glenoid retroversion resulted from underdevelopment of the posterior aspect of the glenoid rather than overdevelopment of the anterior aspect of the glenoid. 3D measurements of greater glenoid retroversion and less declination correlated with 2D measurements of glenoid retroversion and posterior humeral head displacement. Posterior humeral head displacement in NBPP should not be considered a simple "dislocation." Glenohumeral dysplasia is not limited to the axial

Histopathologic features in actinic cheilitis by the comparison of grading dysplasia systems.

PubMed

Pilati, Sfm; Bianco, B C; Vieira, Dsc; Modolo, F

2017-03-01

This study aimed to determine the histopathologic findings in actinic cheilitis (AC) and lip squamous cell carcinomas (LSCC) diagnosed at Federal University of Santa Catarina in order to attempt to predict the evolution from AC to LSCC based on the comparison of two dysplasia classification systems. Histopathologic features were evaluated according to the World Health Organization classification of dysplasia and binary system of classification. Also, in LSCC, pattern, stage of invasion, and degree of keratinization were evaluated. A total of 58 cases of AC and 70 cases of LSCC were studied, and data correlation was performed using statistical analysis. The presence of dyskeratosis and keratin pearls was found to be strongly associated with severe dysplasia and could represent higher proximity between the severe dysplasia in AC and LSCC. Also, changes related to the nuclei, such as hyperchromasia, nuclear pleomorphism, anisonucleosis, increase in the number and size of nucleoli, increased number of mitoses, and atypical mitoses, indicate progression in dysplasia spectrum. Knowledge of clinical and histological features of AC and LSCC leads to better understanding of factors possibly associated with malignant transformation of epithelial dysplasia. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.

PubMed

Wu, Bo; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiao-Ping; Xia, Wei-Bo

2016-05-01

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the craniofacial bones and metaphyseal widening of long bones, and biochemical indexes were mostly normal. To further the understanding of the disease from a biochemical perspective, we reported a CMD case with obviously abnormal biochemical indexes. A 1-year-old boy was referred to our clinic. Biochemical test showed obviously increased alkaline phosphatase (ALP) and parathyroid hormone (PTH), mild hypocalcemia and hypophosphatemia. Moreover, significant elevated receptor activator of nuclear factor kappa-B ligand (RANKL) level, but normal β-C-terminal telopeptide of type I collagen (β-CTX) concentration were revealed. He was initially suspected of rickets, because the radiological examination also showed broadened epiphysis in his long bones. Supplementation with calcium and calcitriol alleviated biochemical abnormality. However, the patient gradually developed osteosclerosis which was inconformity with rickets. Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of craniometaphyseal dysplasia was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous mutation (C1124-1126delCCT) on exon 9. Our study revealed that obvious biochemical abnormality and rickets-like features might present as uncommon characteristics in CMD patients, and the calcium and calcitriol supplementation could alleviate biochemical abnormalities. Furthermore, although early osteoclast differentiation factor was excited in CMD patient, activity of osteoclast was still inert. Copyright © 2016. Published by Elsevier B.V.

Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia.

PubMed

Chikkannaiah, Panduranga; Nagaraju, Smitha; Kangle, Rajit; Gosavi, Mansi

2015-01-01

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

[Long-term follow-up of cemento-osseous dysplasia: a contralateral recurrence before radiotherapy].

PubMed

Khonsari, R H; Corre, P; Bouguila, J; Piot, B

2011-02-01

Cemento-osseous dysplasia is a benign fibro-osseous lesion of the jaws. Its complications are very rare. A panoramic x-ray was made to complete the pre-radiotherapy oral assessment of a 71-year-old female patient presenting with lung adenocarcinoma. This revealed a periapical fibro-osseous lesion on tooth n° 46. She had presented with a similar lesion on tooth n° 36, 16 years before. This had been treated by extraction and alveolar curettage. No surgical treatment was suggested for this recurrence on tooth n° 46. The diagnosis of focal cemento-osseous dysplasia is usually made on radiological and clinical data. The risk for transition to a florid form is unknown. Exeresis surgery before radiotherapy is discussed. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Lung Volume Reduction Surgery for Respiratory Failure in Infants With Bronchopulmonary Dysplasia.

PubMed

Sohn, Bongyeon; Park, Samina; Park, In Kyu; Kim, Young Tae; Park, June Dong; Park, Sung-Hye; Kang, Chang Hyun

2018-04-01

Lung volume reduction surgery (LVRS) can be performed in patients with severe emphysematous disease. However, LVRS in pediatric patients has not yet been reported. Here, we report our experience with 2 cases of pediatric LVRS. The first patient was a preterm infant girl with severe bronchopulmonary dysplasia, pulmonary hypertension, and hypothyroidism. The emphysematous portion of the right lung was removed via sternotomy and right hemiclamshell incision. The patient was discharged on full-time home ventilator support for 3 months after the surgery. Since then, her respiratory function has improved continuously. She no longer needs oxygen supplementation or ventilator care. Her T-cannula was removed recently. The second patient was also a preterm infant girl with bronchopulmonary dysplasia. She was born with pulmonary hypertension and multiple congenital anomalies, including an atrial septal defect. Despite receiving the best supportive care, she could not be taken off the mechanical ventilator because of severe hypercapnia. We performed LVRS on the right lung via thoracotomy. She was successfully weaned off the mechanical ventilator 1 month after the surgery. She was discharged without severe complications at 3 months after the operation. At present, she is growing well with the help of intermittent home ventilator support. She can now tolerate an oral diet. Our experience shows that LVRS can be considered as a treatment option for pediatric patients with severe emphysematous lung. It is especially helpful for discontinuing prolonged mechanical ventilator care for patients with respiratory failure. Copyright © 2018 by the American Academy of Pediatrics.

Cytological study of DNA content and nuclear morphometric analysis for aid in the diagnosis of high-grade dysplasia within oral leukoplakia.

PubMed

Yang, Xi; Xiao, Xuan; Wu, Wenyan; Shen, Xuemin; Zhou, Zengtong; Liu, Wei; Shi, Linjun

2017-09-01

To quantitatively examine the DNA content and nuclear morphometric status of oral leukoplakia (OL) and investigate its association with the degree of dysplasia in a cytologic study. Oral cytobrush biopsy was carried out to obtain exfoliative epithelial cells from lesions before scalpel biopsy at the same location in a blinded series of 70 patients with OL. Analysis of nuclear morphometry and DNA content status using image cytometry was performed with oral smears stained with the Feulgen-thionin method. Nuclear morphometric analysis revealed significant differences in DNA content amount, DNA index, nuclear area, nuclear radius, nuclear intensity, sphericity, entropy, and fractal dimension (all P < .01) between low-grade and high-grade dysplasia. DNA content analysis identified 34 patients with OL (48.6%) with DNA content abnormality. Nonhomogeneous lesion (P = .018) and high-grade dysplasia (P = .008) were significantly associated with abnormal DNA content. Importantly, the positive correlation between the degree of oral dysplasia and DNA content status was significant (P = .004, correlation coefficient = 0.342). Cytology analysis of DNA content and nuclear morphometric status using image cytometry may support their use as a screening and monitoring tool for OL progression. Copyright © 2017 Elsevier Inc. All rights reserved.

Cerebrospinal fluid otorhinorrhea due to cochlear dysplasias.

PubMed

Syal, Rajan; Tyagi, Isha; Goyal, Amit

2005-07-01

Cochlear dysplasia associated with defect in stapes footplate can be a cause of cerebrospinal fluid leak. Repair of cerebrospinal fluid leak in these cases is usually done by packing the vestibule with muscle or fascia. This traditional method of repair has 30-60% failure rate. Cerebrospinal fluid leak in four such patients was successfully repaired using multiple layer packing of vestibule, reinforced by pedicle temporalis muscle graft. Intraoperatively continuous lumbar drain was done. Magnetic resonance imaging of inner ear using 3D FSE T2WI and 3D FIESTA sequences was found helpful noninvasive investigation to localize site and route of cerebrospinal fluid leak.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wilkin, D.J.; Rimoin, D.L.; Cohn, D.H.

1994-09-01

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

Docosahexaenoic Acid and Bronchopulmonary Dysplasia in Preterm Infants.

PubMed

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

2017-03-30

Studies in animals and in humans have suggested that docosahexaenoic acid (DHA), an n-3 long-chain polyunsaturated fatty acid, might reduce the risk of bronchopulmonary dysplasia, but appropriately designed trials are lacking. We randomly assigned 1273 infants born before 29 weeks of gestation (stratified according to sex, gestational age [<27 weeks or 27 to <29 weeks], and center) within 3 days after their first enteral feeding to receive either an enteral emulsion providing DHA at a dose of 60 mg per kilogram of body weight per day or a control (soy) emulsion without DHA until 36 weeks of postmenstrual age. The primary outcome was bronchopulmonary dysplasia, defined on a physiological basis (with the use of oxygen-saturation monitoring in selected infants), at 36 weeks of postmenstrual age or discharge home, whichever occurred first. A total of 1205 infants survived to the primary outcome assessment. Of the 592 infants assigned to the DHA group, 291 (49.1% by multiple imputation) were classified as having physiological bronchopulmonary dysplasia, as compared with 269 (43.9%) of the 613 infants assigned to the control group (relative risk adjusted for randomization strata, 1.13; 95% confidence interval [CI], 1.02 to 1.25; P=0.02). The composite outcome of physiological bronchopulmonary dysplasia or death before 36 weeks of postmenstrual age occurred in 52.3% of the infants in the DHA group and in 46.4% of the infants in the control group (adjusted relative risk, 1.11; 95% CI, 1.00 to 1.23; P=0.045). There were no significant differences between the two groups in the rates of death or any other neonatal illnesses. Bronchopulmonary dysplasia based on a clinical definition occurred in 53.2% of the infants in the DHA group and in 49.7% of the infants in the control group (P=0.06). Enteral DHA supplementation at a dose of 60 mg per kilogram per day did not result in a lower risk of physiological bronchopulmonary dysplasia than a control emulsion among preterm infants

Radiographic Underestimation of In Vivo Cup Coverage Provided by Total Hip Arthroplasty for Dysplasia.

PubMed

Nie, Yong; Wang, HaoYang; Huang, ZeYu; Shen, Bin; Kraus, Virginia Byers; Zhou, Zongke

2018-01-01

The accuracy of using 2-dimensional anteroposterior pelvic radiography to assess acetabular cup coverage among patients with developmental dysplasia of the hip after total hip arthroplasty (THA) remains unclear in retrospective clinical studies. A group of 20 patients with developmental dysplasia of the hip (20 hips) underwent cementless THA. During surgery but after acetabular reconstruction, bone wax was pressed onto the uncovered surface of the acetabular cup. A surface model of the bone wax was generated with 3-dimensional scanning. The percentage of the acetabular cup that was covered by intact host acetabular bone in vivo was calculated with modeling software. Acetabular cup coverage also was determined from a postoperative supine anteroposterior pelvic radiograph. The height of the hip center (distance from the center of the femoral head perpendicular to the inter-teardrop line) also was determined from radiographs. Radiographic cup coverage was a mean of 6.93% (SD, 2.47%) lower than in vivo cup coverage for these 20 patients with developmental dysplasia of the hip (P<.001). However, both methods yielded highly correlated measurements for cup coverage (Pearson r=0.761, P<.001). The size of the acetabular cup (P=.001) but not the position of the hip center (high vs normal) was significantly associated with the difference between radiographic and in vivo cup coverage. Two-dimensional radiographically determined cup coverage conservatively reflects in vivo cup coverage and remains an important index (taking 7% underestimation errors and the effect of greater underestimation of larger cup size into account) for assessing the stability of the cup and monitoring for adequate ingrowth of bone. [Orthopedics. 2018; 41(1):e46-e51.]. Copyright 2017, SLACK Incorporated.

p63 in skin development and ectodermal dysplasias

PubMed Central

Koster, Maranke I.

2010-01-01

The transcription factor p63 is critically important for skin development and maintenance. Processes that require p63 include epidermal lineage commitment, epidermal differentiation, cell adhesion, and basement membrane formation. Not surprisingly, alterations in the p63 pathway underlie a subset of ectodermal dysplasias, developmental syndromes in which the skin and skin appendages do not develop normally. This review summarizes the current understanding of the role of p63 in normal development and ectodermal dysplasias. PMID:20445549

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.

Death due to complications of anhidrotic ectodermal dysplasia.

PubMed

Ogden, Emily; Schandl, Cynthia; Tormos, Lee Marie

2014-11-01

Ectodermal dysplasia comprises a group of disorders affecting ectodermal tissues. Severity depends on the genetic aberration; hyperpyrexia secondary to absence of sweat glands is a common complication. Treatment is supportive. This case report describes a 1-month, 27-day-old male infant with a diagnosis of X-linked recessive anhidrotic ectodermal dysplasia. On the day of his death, his mother swaddled him in a blanket and placed him on the couch at 5:30 am. When she picked him up at 8:00 am, he was unresponsive. At the emergency department, his rectal temperature was 40°C. Postmortem blood culture was positive for group B streptococcus, a possible etiology for fever. It is vital to teach parents that close monitoring of children with ectodermal dysplasia is necessary, as an increase in body temperature can become life threatening. © 2014 American Academy of Forensic Sciences.

Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.

PubMed

Mizukami, Tomoyuki; Obara, Megumi; Nishikomori, Ryuta; Kawai, Tomoki; Tahara, Yoshihiro; Sameshima, Naoki; Marutsuka, Kousuke; Nakase, Hiroshi; Kimura, Nobuhiro; Heike, Toshio; Nunoi, Hiroyuki

2012-02-01

X-linked anhidrotic ectodermal dysplasia with immunodeficiency (X-EDA-ID) is caused by hypomorphic mutations in the gene encoding nuclear factor-κB essential modulator protein (NEMO). Patients are susceptibile to diverse pathogens due to insufficient cytokine and frequently show severe chronic colitis. An 11-year-old boy with X-EDA-ID was hospitalized with autoimmune symptoms and severe chronic colitis which had been refractory to immunosuppressive drugs. Since tumor necrosis factor (TNF) α is responsible for the pathogenesis of NEMO colitis according to intestinal NEMO and additional TNFR1 knockout mice studies, and high levels of TNFα-producing mononuclear cells were detected in the patient due to the unexpected gene reversion mosaicism of NEMO, an anti-TNFα monoclonal antibody was administered to ameliorate his abdominal symptoms. Repeated administrations improved his colonoscopic findings as well as his dry skin along with a reduction of TNFα-expressing T cells. These findings suggest TNF blockade therapy is of value for refractory NEMO colitis with gene reversion.

Fatty metamorphosis and other patterns in fibrous dysplasia

PubMed Central

Shidham, Vinod B; Chavan, Ashwini; Rao, R Nagarjun; Komorowski, Richard A; Asma, Zeenath

2003-01-01

Background Interpretation of small biopsy fragments from suspected lesions of fibrous dysplasia with unusual clinical and / or radiological features may be challenging due to wide histomorphological spectrum of stromal appearances. Awareness of these variations should improve diagnostic confidence. Methods We retrospectively studied 26 cases of fibrous dysplasia (F- 19, M- 7; Ages ranged from 10 to 53 years) with confirmed diagnosis. The sites of the lesions were skull bones (9), humerus (1), femur (8), tibia (2), fibula (3), talus (1), mandible (1), and maxilla (1). Results Different stromal patterns, variably admixed with the classical pattern, were observed in 58%(15/26) of the cases. 20%(3/15) of these had more than one pattern. Focal fatty metamorphosis as groups of fat cells in the central portion of the lesion in the stroma of fibrous dysplasia between osseous trabeculae was observed in 23%(6/26) cases. Other patterns included myxoid stroma in 16%(4/26), collagenization of stroma in 12%(3/26), stroma rich pattern (with paucity of trabeculae) in 12%(3/26), foci of few foam cells in 23% (6/26), and calcified spherules in 12%(3/26). Focal osteoblastic rimming of trabeculae was observed only in 4%(1/26). Conclusions Various stromal variations and previously unreported fatty metamorphosis were frequently observed in fibrous dysplasia. PMID:12946277

Association of mutations with morphological dysplasia in de novo acute myeloid leukemia without 2016 WHO Classification-defined cytogenetic abnormalities

PubMed Central

Weinberg, Olga K.; Gibson, Christopher J.; Blonquist, Traci M.; Neuberg, Donna; Pozdnyakova, Olga; Kuo, Frank; Ebert, Benjamin L.; Hasserjian, Robert P.

2018-01-01

Despite improvements in our understanding of the molecular basis of acute myeloid leukemia (AML), the association between genetic mutations with morphological dysplasia remains unclear. In this study, we evaluated and scored dysplasia in bone marrow (BM) specimens from 168 patients with de novo AML; none of these patients had cytogenetic abnormalities according to the 2016 World Health Organization Classification. We then performed targeted sequencing of diagnostic BM aspirates for recurrent mutations associated with myeloid malignancies. We found that cohesin pathway mutations [q (FDR-adjusted P)=0.046] were associated with a higher degree of megakaryocytic dysplasia and STAG2 mutations were marginally associated with greater myeloid lineage dysplasia (q=0.052). Frequent megakaryocytes with separated nuclear lobes were more commonly seen among cases with cohesin pathway mutations (q=0.010) and specifically in those with STAG2 mutations (q=0.010), as well as NPM1 mutations (q=0.022 when considering the presence of any vs. no megakaryocytes with separated nuclear lobes). RAS pathway mutations (q=0.006) and FLT3-ITD (q=0.006) were significantly more frequent in cases without evaluable erythroid cells. In univariate analysis of the 153 patients treated with induction chemotherapy, NPM1 mutations were associated with longer event-free survival (EFS) (P=0.042), while RUNX1 (P=0.042), NF1 (P=0.040), frequent micromegakaryocytes (P=0.018) and presence of a subclone (P=0.002) were associated with shorter EFS. In multivariable modeling, NPM1 was associated with longer EFS, while presence of a subclone and frequent micromegakaryocytes remained significantly associated with shorter EFS. PMID:29326119

Mondini dysplasia with recurrent bacterial meningitis caused by three different pathogens.

PubMed

Shikano, Hiroaki; Ohnishi, Hidenori; Fukutomi, Hisashi; Ito, Kimiko; Morimoto, Masahiro; Teramoto, Takahide; Aoki, Mitsuhiro; Nishihori, Takezumi; Akeda, Yukihiro; Oishi, Kazunori; Fukao, Toshiyuki

2015-12-01

Mondini dysplasia is rare, but has an important association with recurrent bacterial meningitis. We herein describe the case of a 3-year-old girl with unilateral sensorineural hearing loss who presented with three independent episodes of bacterial meningitis within 8 months. Temporal bone computed tomography indicated the characteristic features of Mondini dysplasia in the right inner ear. This was treated by surgical closure of the inner ear defect via oval window and additional vaccination was administered. Appropriate vaccination might prevent the recurrent bacterial meningitis associated with Mondini dysplasia. © 2015 Japan Pediatric Society.

Barrett's esophagus: photodynamic therapy for ablation of dysplasia, reduction of specialized mucosa and treatment of superficial esophageal cancer

NASA Astrophysics Data System (ADS)

Overholt, Bergein F.; Panjehpour, Masoud

1995-03-01

Fifteen patients with Barrett's esophagus and dysplasia were treated with photodynamic therapy. Four patients also had early, superficial esophageal cancers and 5 had esophageal polyps. Light was delivered via a standard diffuser or a centering esophageal balloon. Eight patients maintained on omeprazole and followed for 6 - 54 months are the subject of this report. Photodynamic therapy ablated dysplastic or malignant mucosa in patients with superficial cancer. Healing and partial replacement of Barrett's mucosa with normal squamous epithelium occurred in all patients and complete replacement with squamous epithelium was found in two. Side effects included photosensitivity and mild-moderate chest pain and dysphagia for 5 - 7 days. In three patients with extensive circumferential mucosal ablation in the proximal esophagus, healing was associated with esophageal strictures which were treated successfully by esophageal dilation. Strictures were not found in the distal esophagus. Photodynamic therapy combined with long-term acid inhibition provides effective endoscopic therapy of Barrett's mucosal dysplasia and superficial (Tis-T1) esophageal cancer. The windowed centering balloon improves delivery of photodynamic therapy to diffusely abnormal esophageal mucosa.

Seizure Freedom in Children With Pathology-Confirmed Focal Cortical Dysplasia.

PubMed

Mrelashvili, Anna; Witte, Robert J; Wirrell, Elaine C; Nickels, Katherine C; Wong-Kisiel, Lily C

2015-12-01

We evaluated the temporal course of seizure outcome in children with pathology-confirmed focal cortical dysplasia and explored predictors of sustained seizure freedom. We performed a single-center retrospective study of children ≤ 18 years who underwent resective surgery from January 1, 2000 through December 31, 2012 and had pathology-proven focal cortical dysplasia. Surgical outcome was classified as seizure freedom (Engel class I) or seizure recurrence (Engel classes II-IV). Fisher exact and nonparametric Wilcoxon ranksum tests were used, as appropriate. Survival analysis was based on seizure-free outcome. Patients were censored at the time of seizure recurrence or seizure freedom at last follow-up. Thirty-eight patients were identified (median age at surgery, 6.5 years; median duration of epilepsy, 3.3 years). Median time to last follow-up was 13.5 months (interquartile range, 7-41 months). Twenty patients (53%) were seizure free and 26 patients (68%) attained seizure freedom for a minimum of 3 months. Median time to seizure recurrence was 38 months (95% confidence interval, 6-109 months), and the cumulative seizure-free rate was 60% at 12 months (95% confidence interval, 43%-77%). Clinical features associated with seizure freedom at last follow-up included older age at seizure onset (P = .02), older age at surgery (P = .04), absent to mild intellectual disability before surgery (P = .05), and seizure freedom for a minimum of 3 months (P < .001). Favorable clinical features associated with sustained seizure freedom included older age at seizure onset, older age at surgery, absent or mild intellectual disability at baseline, and seizure freedom for a minimum of 3 months. Copyright © 2015 Elsevier Inc. All rights reserved.

[Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Literature review and case report].

PubMed

Camargo-Ariza, William Alejandro; Galvis-Blanco, Silvia Juliana; Camacho-Enciso, Tatiana Del Pilar; Quiroz-Romero, Carlos Alberto; Bermudez-Echeverry, Juan José

Arrhythmogenic right ventricular cardiomyopathy/dysplasia is an inherited autosomal dominant disease, with an estimated prevalence of 1:2,500 to 1:5,000, being higher in males (3:1). It is characterised histologically by the substitution of cardiomyocytes for fibrous-adipose tissue, which predisposes to ventricular arrhythmias, right ventricular failure, and sudden cardiac death. The main aim of treatment is to reduce the risk of sudden death and improve the quality of life of patients. The case is presented of a 23 year old woman whose clinical symptoms started with palpitations, chest pain with physical activity, syncope, and headache, 6 years ago during her first pregnancy. Due to an increase in symptomatology, a stress test was performed, during which she collapsed with a sustained monomorphic ventricular tachycardia. A cardiac magnetic resonance scan showed dilation, an increase in trabeculae, and decreased function of the right ventricle. A 3-dimensional mapping and ablation was performed, and during the isoproterenol infusion test, a polymorphic ventricular flutter was generated that required electrical cardioversion. The decision was made to implant a dual chamber cardioverter defibrillator and perform stellate ganglion ablation as secondary prevention. After her discharge, the patient re-consulted many times due to discharges of the device associated with palpitations. A comprehensive review of the patient's medical records was performed, finding characteristics that may suggest arrhythmogenic right ventricular dysplasia. The Task Force criteria was applied, concluding that, as she met more than 2 major criteria, the patient had a definitive diagnosis of this disease. Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

Investigation of p16(INK4a) as a prognostic biomarker in oral epithelial dysplasia.

PubMed

Nankivell, Paul; Williams, Hazel; Webster, Keith; Pearson, David; High, Alec; MacLennan, Kenneth; Senguven, Burcu; McConkey, Christopher; Rabbitts, Pamela; Mehanna, Hisham

2014-04-01

Human papilloma virus is a risk factor for oropharyngeal cancer. Evidence for a similar aetiological role in the development of oral dysplasia or its transformation to oral cancer is not as clear. Meta-analyses estimate the prevalence of high-risk human papilloma virus (HPV) serotypes to be three times higher in pre-malignant lesions and cancer than in normal oral mucosa. However, this does not imply a causal relationship. Conflicting results are reported from the few studies examining the prognostic significance of HPV positivity in the development of oral cancer. We aimed to examine the ability of p16(INK4a) protein expression, a surrogate marker of HPV infection, to predict malignant progression in a large cohort of oral dysplasia patients. One hundred forty eight oral dysplasia cases underwent immunohistochemical analysis using a monoclonal antibody against p16(INK4a) . Clinical factors were also collated on each case. Slides were double scored independently by two trained observers. Univariate analyses using both logistic and Cox regression models were performed. Thirty nine of 148 cases progressed to cancer. Ten of 148 cases (7%) were p16(INK4a) positive. High grade of dysplasia (P = 0.0002) and lesion morphology (P = 0.03) were found to be prognostic of malignant progression. p16(INK4a) score was not prognostic in this cohort (P = 0.29). This did not change with a time to event analysis (P = 0.24). Few studies have assessed the aetiological role of HPV in cancer development from dysplastic lesions. Our study, using one of the largest cohorts of oral dysplasia, demonstrated a low rate of p16(INK4a) positivity and was unable to confirm a prognostic ability for this biomarker. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Imaging diagnosis--temporomandibular joint dysplasia in a Basset Hound.

PubMed

Lerer, Assaf; Chalmers, Heather J; Moens, Noel M M; Mackenzie, Shawn D; Kry, Kristin

2014-01-01

A 5-month-old intact male Basset Hound presented for evaluation of pain and crepitation during manipulation of the temporomandibular joint, worse on the right side. A computed tomography (CT) scan of the head was performed. The CT images demonstrated the osseous features of temporomandibular joint dysplasia and facilitated a 3D reconstruction, which allowed better visualization of the dysplastic features. The patient responded to conservative management with a tape muzzle with no recurrence reported by the owner 6 months after presentation. © 2013 American College of Veterinary Radiology.

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

PubMed Central

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

2015-01-01

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. PMID:27011852

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

PubMed

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

2016-04-01

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

Focal cemento-osseous dysplasia masquerading as benign cementoblastoma: A diagnostic dilemma

PubMed Central

Rao, Gayathri S; Kamalapur, Muralidhar G; Acharya, Swetha

2014-01-01

Context: Focal cemento-osseous dysplasia (FCOD) is a fibro-osseous lesion that is a nonneoplastic reactive lesion. Case Report: A case of 47-year-old female patient presenting with a diagnostic dilemma to the clinician is reported. Methods to achieve definitive diagnosis are discussed. Conclusions: FCOD can present with features of periapical pathology or other osseous lesions. Hence, to arrive at a definitive diagnosis biopsy and histopathologic examination is imperative. PMID:24959061

Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

PubMed

Zeng, B; Lu, H; Xiao, X; Zhou, L; Lu, J; Zhu, L; Yu, D; Zhao, W

2015-11-01

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormalities of hair, teeth, and sweat glands, while non-syndromic hypodontia (NSH) affects only teeth. Mutations in Ectodysplasin A (EDA) underlie both XLHED and NSH. This study investigated the genetic causes of six hypohidrotic ectodermal dysplasia (HED) patients and genotype-phenotype correlation. The EDA gene of six patients with HED was sequenced. Bioinformatics analysis and structural modeling for the mutations were performed. The records of 134 patients with XLHED and EDA-related NSH regarding numbers of missing permanent teeth from this study and 20 articles were reviewed. Nonparametric tests were used to analyze genotype-phenotype correlations. In four of the six patients, we identified a novel mutation c.852T>G (p.Phe284Leu) and three reported mutations: c.467G>A (p.Arg156His), c.776C>A (p.Ala259Glu), and c.871G>A (p.Gly291Arg). They were predicted to be pathogenic by bioinformatics analysis and structural modeling. Genotype-phenotype correlation analysis revealed that truncating mutations were associated with more missing teeth. Missense mutations and the mutations affecting the TNF homology domain were correlated with fewer missing teeth. This study extended the mutation spectrum of XLHED and revealed the relationship between genotype and the number of missing permanent teeth. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

An activating G{sub s}{alpha} mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shenker, A.; Weinstein, L.S.; Spiegel, A.M.

1994-09-01

McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, cafe-au-lait spots, and multiple endocrinopathies. The etiology of fibrous dysplasia is unknown. Activating mutations of codon 201 in the gene encoding the {alpha}-subunit of G{sub s}, the G-protein that stimulates adenylyl cyclase, have been found in all affected MAS tissues that have been studied. Initial attempts to amplify DNA from decalcified paraffin-embedded bone specimens from frozen surgical bone specimens from five MAS patients using polymerase chain reaction and allele-specific oligonucleotide hybridization. Most of the cells in four specimens of dysplastic bone contained a heterozygous mutation encoding substitution ofmore » Arg{sup 201} of G{sub s}{alpha} with His, but the mutation was barely detectable in peripheral blood specimens from the patients. Only a small amount of mutant allele was detected in a specimen of normal cortical bone from the fifth patient, although this patients had a high proportion of mutation in other, affected tissues. The mosaic distribution of mutant alleles is consistent with an embryological somatic cell mutation of the G{sub s}{alpha} gene in MAS. The presence of an activating mutation of G{sub s}{alpha} in osteoblastic progenitor cells may cause them to exhibit increased proliferation and abnormal differentiation, thereby producing the lesions of fibrous dysplasia. 43 refs., 2 figs.« less

Respiratory Phenotypes for Preterm Infants, Children, and Adults: Bronchopulmonary Dysplasia and More.

PubMed

Collaco, Joseph M; McGrath-Morrow, Sharon A

2018-05-01

Ongoing advancements in neonatal care since the late 1980s have led to increased numbers of premature infants surviving well beyond the neonatal period. As a result of increased survival, many individuals born preterm manifest chronic respiratory symptoms throughout infancy, childhood, and adult life. The archetypical respiratory disease of prematurity, bronchopulmonary dysplasia, is the second most common chronic pediatric respiratory disease after asthma. However, there are several commonly held misconceptions. These misconceptions include that bronchopulmonary dysplasia is rare, that bronchopulmonary dysplasia resolves within the first few years of life, and that bronchopulmonary dysplasia does not impact respiratory health in adult life. This focused review describes a spectrum of respiratory conditions that individuals born prematurely may experience throughout their lifespan. Specifically, this review provides quantitative estimates of the number of individuals with alveolar, airway, and vascular phenotypes associated with bronchopulmonary dysplasia, as well as non-bronchopulmonary dysplasia respiratory phenotypes such as airway malacia, obstructive sleep apnea, and control of breathing issues. Furthermore, this review illustrates what is known about the potential for progression and/or lack of resolution of these respiratory phenotypes in childhood and adult life. Recognizing the spectrum of respiratory phenotypes associated with individuals born preterm and providing comprehensive and personalized care to these individuals may help to modulate adverse respiratory outcomes in later life.

Hearing screening in children with skeletal dysplasia.

PubMed

Tunkel, David E; Kerbavaz, Richard; Smith, Beth; Rose-Hardison, Danielle; Alade, Yewande; Hoover-Fong, Julie

2011-12-01

To determine the prevalence of hearing loss and abnormal tympanometry in children with skeletal dysplasia. Clinical screening program. National convention of the Little People of America. Convenience sample of volunteers aged 18 years or younger with skeletal dysplasias. Hearing screening with behavioral testing and/or otoacoustic emissions, otoscopy, and tympanometry. A failed hearing screen was defined as hearing 35 dB HL (hearing level) or greater at 1 or more tested frequencies or by a "fail" otoacoustic emissions response. Types B and C tympanograms were considered abnormal. A total of 58 children (aged ≤18 years) with skeletal dysplasia enrolled, and 56 completed hearing screening. Forty-one children had normal hearing (71%); 9 failed in 1 ear (16%); and 6 failed in both ears (10%). Forty-four children had achondroplasia, and 31 had normal hearing in both ears (71%); 8 failed hearing screening in 1 ear (18%), and 3 in both ears (7%). Tympanometry was performed in 45 children, with normal tympanograms found in 21 (47%), bilateral abnormal tympanograms in 15 (33%), and unilateral abnormal tympanograms in 9 (20%). Fourteen children with achondroplasia had normal tympanograms (42%); 11 had bilateral abnormal tympanograms (33%); and 8 had unilateral abnormal tympanograms (24%). For those children without functioning tympanostomy tubes, there was a 9.5 times greater odds of hearing loss if there was abnormal tympanometry (P = .03). Hearing loss and middle-ear disease are both highly prevalent in children with skeletal dysplasias. Abnormal tympanometry is highly associated with the presence of hearing loss, as expected in children with eustachian tube dysfunction. Hearing screening with medical intervention is recommended for these children.

[Photodynamic therapy of dysplasias and early carcinomas in Barrett esophagus with a diode laser system--a pilot study].

PubMed

Zöpf, T; Rosenbaum, A; Apel, D; Jakobs, R; Arnold, J C; Riemann, J F

2001-04-15

Photodynamic therapy (PDT) of dysplasia and early cancer of the esophagus could show good results in the potential of ablation. Unfortunately, the existing expensive and temperamental dye laser systems foiled a broad clinical use. In this pilot study, we investigated the feasibility of an inexpensive and maintenance-free diode laser system for PDT of dysplasia and early cancer in Barrett's esophagus. Eight patients with Barrett's esophagus and/or early cancer were treated. As light source we used a diode laser system with a maximum power output of 2 W and a wavelength of 633 +/- 3 nm. One patient was treated initially with Photosan-3, seven patients received 5-aminolevulinic acid. In all patients we could achieve reduction in length and/or histologically proven downgrading. In three quarters of the patients, complete eradication of adenocarcinoma could be attained. Columnar-lined metaplastic epithelium could also be completely eradicated. PDT using a diode laser system is comparably effective in Barrett's esophagus/early cancer as PDT with dye laser systems. PDT is a gentle and effective technique with little side effects.

Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.

PubMed

Valério, R A; Scatena, C; Santos, F R R; Romano, F L; Queiroz, A M; Paula-Silva, F W G

2017-04-01

Frontonasal dysplasia is a complex rare malformation, characterised by abnormalities involving the central portion of the face, especially the eyes, nose and forehead. It can manifest independently or associated with other abnormalities as part of some syndromes. The purpose of this case report was to describe a 5-year-old patient, diagnosed with frontonasal dysplasia. Among the abnormalities characterised with this disorder were ocular hypertelorism, broad nose tip with median notch, median facial cleft, bifid anterior skull, low set hairline, Poland's syndactyly and ankyloglossia. Consisted of behavioural management, oral hygiene instruction, prophylaxis, topical fluoride application, extraction of primary teeth, composite resin restorations and sealants in pits and fissures. Preformed metal crowns were also applied to the right and left primary maxillary second molars. Currently, the patient is 11 years-old in the permanent dentition and therefore was referred for corrective orthodontic and periodontal treatments due to the persistence of gingival retraction of the permanent mandibular right central incisor. The treatment in this case was directed to the promotion of oral health and orthodontic corrections, which are of fundamental importance due to medical, physical and social limitations of children affected by this syndrome, hindering healing and rehabilitative treatment. Paediatric dentists should be included in multidisciplinary teams providing care to patients with special needs, improving their quality of life.

Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

PubMed

Hyder, Zerin; Beale, Victoria; O'Connor, Ruth; Clayton-Smith, Jill

2017-04-01

The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood. We go on to review the literature on the diagnosis and management of genitourinary malformations in EEC syndrome.

Developmental outcome after surgery in focal cortical dysplasia patients with early-onset epilepsy.

PubMed

Kimura, Nobusuke; Takahashi, Yukitoshi; Shigematsu, Hideo; Imai, Katsumi; Ikeda, Hiroko; Ootani, Hideyuki; Takayama, Rumiko; Mogami, Yukiko; Kimura, Noriko; Baba, Koichi; Matsuda, Kazumi; Tottori, Takayasu; Usui, Naotaka; Inoue, Yushi

2014-12-01

The purpose of this study was to investigate the developmental outcome after surgery for early-onset epilepsy in patients with focal cortical dysplasia (FCD). Among 108 patients with histopathologically confirmed FCD operated between 1985 and 2008, we selected 17 patients with epilepsy onset up to 3 years of age. Development was evaluated by the developmental quotient or intelligence quotient (DQ-IQ) and mental age was measured by the Mother-Child Counseling baby test or the Tanaka-Binet scale of intelligence. Postsurgical development outcome was evaluated by the changes in DQ-IQ and mental age as well as rate of increase in mental age (RIMA) after surgery. RIMA was calculated as the increase in mental age per chronological year (months/year; normal average rate: 12 months/year). Age at epilepsy onset of 17 patients ranged from 15 days to 36 months (mean±SD, 11.0±10.0 months). Age at surgery ranged from 18 to 145 months (75.1±32.4 months). Evaluation just before surgery showed that 13 of 17 (76.4%) patients had DQ-IQ below 70. Ten patients (58.8%) were seizure-free throughout the postsurgical follow-up period. After surgery, DQ-IQ was maintained within 10 points of the presurgical level in 13 patients (76.4%), and increased by more than 10 points in one patient (5.9%). After surgery, RIMA in patients with Engel's class I (7.5±3.8) was higher than patients with Engel's class II-IV (2.6±3.4) (unpaired t-test with Welch's correction, t=2.99, df=15, p=0.0092). RIMA was particularly low in two patients with spasm. In four patients with presurgical DQ-IQ<70, seizure-free after surgery and without spasm, DQ-IQ did not increase but RIMA improved from 3.6±2.8 before surgery to 6.9±2.5 months/year after surgery. RIMA became better from 2 years after surgery. In four patients with presurgical DQ-IQ≥70 and no spasm, two showed the same or higher RIMA than normal average after surgery. In 58.8% of FCD patients with early onset epilepsy, epilepsy surgery effectively

Artificial intelligence estimates the impact of human papillomavirus types in influencing the risk of cervical dysplasia recurrence: progress toward a more personalized approach.

PubMed

Bogani, Giorgio; Ditto, Antonino; Martinelli, Fabio; Signorelli, Mauro; Chiappa, Valentina; Leone Roberti Maggiore, Umberto; Taverna, Francesca; Lombardo, Claudia; Borghi, Chiara; Scaffa, Cono; Lorusso, Domenica; Raspagliesi, Francesco

2018-01-22

The objective of this study was to determine whether the pretreatment human papillomavirus (HPV) genotype might predict the risk of cervical dysplasia persistence/recurrence. Retrospective analysis of prospectively collected data of consecutive 5104 women who underwent the HPV-DNA test were matched with retrospective data of women undergoing either follow-up or medical/surgical treatment(s) for genital HPV-related infection(s). Artificial neuronal network (ANN) analysis was used in order to weight the importance of different HPV genotypes in predicting cervical dysplasia persistence/recurrence. ANN simulates a biological neuronal system from both the structural and functional points of view: like neurons, ANN acquires knowledge through a learning-phase process and allows weighting the importance of covariates, thus establishing how much a variable influences a multifactor phenomenon. Overall, 5104 women were tested for HPV. Among them, 1273 (25%) patients underwent treatment for HPV-related disorders. LASER conization and cervical vaporization were performed in 807 (59%) and 386 (30%) patients, respectively, and secondary cervical conization in 45 (5.5%). ANN technology showed that the most important genotypes predicting cervical dysplasia persistence/recurrence were HPV-16 (normalized importance: 100%), HPV-59 (normalized importance: 51.2%), HPV-52 (normalized importance: 47.7%), HPV-18 (normalized importance: 32.8%) and HPV-45 (normalized importance: 30.2%). The pretreatment diagnosis of all of those genotypes, except HPV-45, correlated with an increased risk of cervical dysplasia persistence/recurrence; the pretreatment diagnosis was also arrived at using standard univariate and multivariable models (P<0.01). Pretreatment positivity for HPV-16, HPV-18, HPV-52 and HPV-59 might correlate with an increased risk of cervical dysplasia persistence/recurrence after treatment. These data might be helpful during patients' counseling and to implement new vaccination

Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

PubMed

Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

2013-09-01

Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

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

PubMed

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

2016-07-01

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

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

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

PubMed

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

2015-06-01

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

Expression of Bcl-2 and Bax in extrahepatic biliary tract carcinoma and dysplasia

PubMed Central

Li, Sheng-Mian; Yao, Shu-Kun; Yamamura, Nobuyoshi; Nakamura, Toshitsugu

2003-01-01

AIM: To compare the difference of expression of Bcl-2 and Bax in extrahepatic biliary tract carcinoma and dysplasia, and to analyze the role of Bcl-2 and Bax proteins in the progression from dysplasia to carcinoma and to evaluate the correlation of Bcl-2/Bax protein expression with the biological behaviors. METHODS: Expressions of Bcl-2 and Bax were examined immunohistochemically in 27 cases of extrahepatic biliary tract carcinomas (bile duct carcinoma: n = 21, carcinoma of ampulla of Vater: n = 6), and 10 cases of atypical dysplasia. Five cases of normal biliary epithelial tissues were used as controls. A semiquantitative scoring system was used to assess the Bcl-2 and Bax reactivity. RESULTS: The expression of Bcl-2 was observed in 10 out of 27 (37.0%) invasive carcinomas, 1 out of 10 dysplasias, none out of 5 normal epithelial tissues. Bax expression rate was 74.1% (20/27) in invasive carcinoma, 30% (3/10) in dysplasia, and 40% (2/5) in normal biliary epithelium. Bcl-2 and Bax activities were more intense in carcinoma than in dysplasia, with no significant difference in Bcl-2 expression (P = 0.110), and significant difference in Bax expression (P = 0.038). Level of Bax expression was higher in invasive carcinoma than in dysplasia and normal tissue (P = 0.012). Bcl-2 expression was correlated to Bax expression (P = 0.0059). However, Bcl-2/Bax expression had no correlation with histological subtype, grade of differentiation, or level of invasion. CONCLUSION: Increased Bcl-2/Bax expression from dysplasia to invasive tumors supports the view that this is the usual route for the development of extrahepatic biliary tract carcinoma. Bcl-2/Bax may be involved, at least in part, in the apoptotic activity in extrahepatic biliary carcinoma. PMID:14606101

Genetics Home Reference: septo-optic dysplasia

MedlinePlus

... have been associated with septo-optic dysplasia , although mutations in these genes appear to be rare causes ... brain (the forebrain) such as the optic nerves . Mutations in any of these genes disrupt the early ...

Mutations in FLNB cause boomerang dysplasia

PubMed Central

Bicknell, L; Morgan, T; Bonafe, L; Wessels, M; Bialer, M; Willems, P; Cohn, D; Krakow, D; Robertson, S

2005-01-01

Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans. PMID:15994868

Mutations in FLNB cause boomerang dysplasia.

PubMed

Bicknell, L S; Morgan, T; Bonafé, L; Wessels, M W; Bialer, M G; Willems, P J; Cohn, D H; Krakow, D; Robertson, S P

2005-07-01

Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans.

Heart Failure Is Common and Under-Recognized in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia.

PubMed

Gilotra, Nisha A; Bhonsale, Aditya; James, Cynthia A; Te Riele, Anneline S J; Murray, Brittney; Tichnell, Crystal; Sawant, Abhishek; Ong, Chin Siang; Judge, Daniel P; Russell, Stuart D; Calkins, Hugh; Tedford, Ryan J

2017-09-01

Heart failure (HF) prevalence in arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) varies depending on study cohort and is not well characterized. This study sought to determine prevalence and predictors of HF in ARVC/D. Clinical HF, defined as at least 1 HF sign or symptom, was retrospectively adjudicated for 289 patients meeting ARVC/D Task Force Criteria. HF was present in 142 patients (49%): 113 had isolated RV involvement and 29 had evidence of LV dysfunction. Average age of HF onset was 40±14 years. Most commonly reported symptoms were exertional dyspnea (78%) and fatigue (73%). Only 40% (n=57/142) had signs of volume overload. Left-sided HF signs were rare. Patients with clinical HF before ARVC/D diagnosis (n=31) were older ( P =0.005) and met fewer Task Force Criteria ( P =0.013) than those who developed HF after ARVC/D presentation. Female sex (odds ratio, 2.2; 95% confidence interval, 1.21-4.01; P =0.01) and lateral precordial T-wave inversions (odds ratio, 9.87; 95% confidence interval, 1.07-91.1; P =0.043) were associated with increased odds of HF. Additionally, patients with symptomatic LV dysfunction had higher odds of lateral precordial T-wave inversions (odds ratio, 18.4; 95% confidence interval, 2.92-116.18; P =0.002). Patients with HF were more likely to undergo heart transplantation (15/142 versus 1/147; P <0.001) or die during study follow-up period (7 versus 0; P =0.007). HF symptoms, especially exertional dyspnea, are common in ARVC/D; yet, classic left-sided signs are typically absent and less than half have evidence of volume overload. Given the unique predominately right-sided phenotype, a large portion of patients with HF may be under-recognized. © 2017 American Heart Association, Inc.

Frequency domain beamforming of magnetoencephalographic beta band activity in epilepsy patients with focal cortical dysplasia.

PubMed

Heers, Marcel; Hirschmann, Jan; Jacobs, Julia; Dümpelmann, Matthias; Butz, Markus; von Lehe, Marec; Elger, Christian E; Schnitzler, Alfons; Wellmer, Jörg

2014-09-01

Spike-based magnetoencephalography (MEG) source localization is an established method in the presurgical evaluation of epilepsy patients. Focal cortical dysplasias (FCDs) are associated with focal epileptic discharges of variable morphologies in the beta frequency band in addition to single epileptic spikes. Therefore, we investigated the potential diagnostic value of MEG-based localization of spike-independent beta band (12-30Hz) activity generated by epileptogenic lesions. Five patients with FCD IIB underwent MEG. In one patient, invasive EEG (iEEG) was recorded simultaneously with MEG. In two patients, iEEG succeeded MEG, and two patients had MEG only. MEG and iEEG were evaluated for epileptic spikes. Two minutes of iEEG data and MEG epochs with no spikes as well as MEG epochs with epileptic spikes were analyzed in the frequency domain. MEG oscillatory beta band activity was localized using Dynamic Imaging of Coherent Sources. Intralesional beta band activity was coherent between simultaneous MEG and iEEG recordings. Continuous 14Hz beta band power correlated with the rate of interictal epileptic discharges detected in iEEG. In cases where visual MEG evaluation revealed epileptic spikes, the sources of beta band activity localized within <2cm of the epileptogenic lesion as shown on magnetic resonance imaging. This result held even when visually marked epileptic spikes were deselected. When epileptic spikes were detectable in iEEG but not MEG, MEG beta band activity source localization failed. Source localization of beta band activity has the potential to contribute to the identification of epileptic foci in addition to source localization of visually marked epileptic spikes. Thus, this technique may assist in the localization of epileptic foci in patients with suspected FCD. Copyright © 2014 Elsevier B.V. All rights reserved.

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.

Use of mini dental implants in ectodermal dysplasia children: follow-up of three cases.

PubMed

Sfeir, E; Nassif, N; Moukarzel, C

2014-07-01

Ectodermal dysplasia is a hereditary genodermatosis characterised by a congenital defect of ectodermal structures, causing tooth malformations and anomalies. Implantology has become accepted in these subjects. However cases are often complicated by a reduction in the size of the alveolar process, making the insertion of conventional implants difficult without bone grafting. The reduced diameter of mini-implants and their ease of insertion provide an interesting solution in supporting removable or fixed prosthesis. The purpose of this paper is to report the follow-up of three cases of children (11-12 year- old) with ectodermal dysplasia in which mini-implants were used to support the prostheses. In the first case, two mini-implants were inserted into the anterior part of the mandible for stabilising a removable denture (2 years follow-up). In the other two cases, mini- implants were inserted in the maxilla and mandible to replace missing front teeth with fixed prostheses. Patients were called for follow- up every 6 months: in the sencod case follow-up lasted 4 years in the mandible and 2 years in the maxilla; in the third case, 2 years in the maxilla and 1 year in the mandible. The use of mini-implants in children with ectodermal dysplasia can enhance aesthetics, and functional and psychosocial development.

Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia.

PubMed

Hohenbichler, Katharina; Lelotte, Julie; Lhommel, Renaud; Tahry, Riëm El; Vrielynck, Pascal; Santos, Susana Ferrao

2017-12-01

Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-onset Rasmussen encephalitis with dual pathology, associated with focal cortical dysplasia and encephalitis. We interpreted the Rasmussen encephalitis to be caused by severe and continuous epileptic activity due to focal cortical dysplasia. The best therapeutic approach for such cases remains unclear.

Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case

PubMed Central

Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

2013-01-01

Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition. PMID:24179947

Genetics Home Reference: diastrophic dysplasia

MedlinePlus

... Changes Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue ...

Genetics Home Reference: Ghosal hematodiaphyseal dysplasia

MedlinePlus

... A, Le Merrer M, Cormier-Daire V. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. Hum Genet. ... are genome editing and CRISPR-Cas9? What is precision medicine? What ...

Genetics Home Reference: multiple epiphyseal dysplasia

MedlinePlus

... MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ... manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. BMC Musculoskelet ...

Genetics Home Reference: Langer mesomelic dysplasia

MedlinePlus

... Citation on PubMed Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE. Compound heterozygosity of ... L, Elder FF, Scott CI Jr, Marttila P, Ross JL. Complete SHOX deficiency causes Langer mesomelic dysplasia. ...

Tooth eruption in a patient with craniometaphyseal dysplasia: case report.

PubMed

Hayashibara, T; Komura, T; Sobue, S; Ooshima, T

2000-10-01

Craniometaphyseal dysplasia (CMD) is a very rare genetic disorder of bone remodeling caused by osteoclast dysfunction. The clinical and radiographical features of oral findings are presented in a sporadic case of CMD in a child (age 10 years, 7 months). An intraoral examination showed severe malocclusions, including anterior crossbite and deep bite. Furthermore, a radiographic examination showed increased radiopacity of the maxilla and mandibular bones due to hyperostosis and sclerosis of the jaw. There was no root resorption of the canines or molars in the primary dentition, although root formation of the permanent teeth was proceeding. Dental age was calculated to be approximately 1 year, 4 months younger than his chronological age. The eruption speed of the permanent lateral incisors after the gingival emergence was shown to be within normal values, and we discuss whether the canines and premolars in the permanent dentition could erupt or not.

Canine breeds associated with gastric carcinoma, metaplasia and dysplasia diagnosed by histopathology of endoscopic biopsy samples.

PubMed

Candido, Marcus Vinicius; Syrjä, Pernilla; Kilpinen, Susanne; Spillmann, Thomas

2018-06-18

Gastric carcinoma (GC) is a rather rare pathological finding in dogs, with the exception of some breeds which seem predisposed. The etiopathogenesis is largely unknown in dogs, whereas in humans GC often develops from gastric mucosal metaplasia and dysplasia. This study investigates whether dogs of certain breeds are more often subject to gastroduodenoscopy (GDS), and diagnosed with GC, mucosal metaplasia or dysplasia. A retrospective clinical database search was performed at the Veterinary Teaching Hospital at the University of Helsinki, Finland. The following inclusion criteria were applied to estimate relative risk for metaplasia/dysplasia and GC: dogs from pure breeds with at least five individuals subject to GDS with histopathology of gastric biopsies. Between 2006 and 2016, from a total of 54945 canine patients presented, 423 dogs underwent GDS. Inclusion criteria were met in 180 dogs of 20 different pure breeds. Eight dogs had GCs (mean age = 9.8 ± 1.7 years): Belgian Tervuren (n = 4), Collie (n = 2), Golden Retriever (n = 1) and Jack Russel Terrier (n = 1). Fourteen dogs of eight breeds had gastric mucosal metaplasia or dysplasia. A log-binomial statistical model revealed that dogs in the following breeds had a significantly higher probability to undergo GDS than the others in the study population: Australian Terrier, Belgian Tervuren, Cairn Terrier, Collie and Siberian Husky. Belgian Tervuren was found at higher risk to be diagnosed with GC [RR = 19 (5.7-63.9; P < 0.0001)], as well as mucosal metaplasia/dysplasia [RR (7.6; 2.95-19.58; P < 0.0001)], as compared to the other breeds included. Shetland Sheepdog had an increased RR (5.83; 1.75-19.45; P = 0.0041) for metaplasia. The results indicate a very low incidence of GC in dogs. The Belgian Tervuren, however, appears as predisposed. The histopathologic descriptions of mucosal changes such as metaplasia and dysplasia were also rare, but were more frequent in the

Consensus Statements for Management of Barrett’s Dysplasia and Early-Stage Esophageal Adenocarcinoma, Based on a Delphi Process

PubMed Central

BENNETT, CATHY; VAKIL, NIMISH; BERGMAN, JACQUES; HARRISON, REBECCA; ODZE, ROBERT; VIETH, MICHAEL; SANDERS, SCOTT; GAY, LAURA; PECH, OLIVER; LONGCROFT–WHEATON, GAIUS; ROMERO, YVONNE; INADOMI, JOHN; TACK, JAN; CORLEY, DOUGLAS A.; MANNER, HENDRIK; GREEN, SUSI; DULAIMI, DAVID AL; ALI, HAYTHEM; ALLUM, BILL; ANDERSON, MARK; CURTIS, HOWARD; FALK, GARY; FENNERTY, M. BRIAN; FULLARTON, GRANT; KRISHNADATH, KAUSILIA; MELTZER, STEPHEN J.; ARMSTRONG, DAVID; GANZ, ROBERT; CENGIA, GIANPAOLO; GOING, JAMES J.; GOLDBLUM, JOHN; GORDON, CHARLES; GRABSCH, HEIKE; HAIGH, CHRIS; HONGO, MICHIO; JOHNSTON, DAVID; FORBES–YOUNG, RICKY; KAY, ELAINE; KAYE, PHILIP; LERUT, TONI; LOVAT, LAURENCE B.; LUNDELL, LARS; MAIRS, PHILIP; SHIMODA, TADAKUZA; SPECHLER, STUART; SONTAG, STEPHEN; MALFERTHEINER, PETER; MURRAY, IAIN; NANJI, MANOJ; POLLER, DAVID; RAGUNATH, KRISH; REGULA, JAROSLAW; CESTARI, RENZO; SHEPHERD, NEIL; SINGH, RAJVINDER; STEIN, HUBERT J.; TALLEY, NICHOLAS J.; GALMICHE, JEAN–PAUL; THAM, TONY C. K.; WATSON, PETER; YERIAN, LISA; RUGGE, MASSIMO; RICE, THOMAS W.; HART, JOHN; GITTENS, STUART; HEWIN, DAVID; HOCHBERGER, JUERGEN; KAHRILAS, PETER; PRESTON, SEAN; SAMPLINER, RICHARD; SHARMA, PRATEEK; STUART, ROBERT; WANG, KENNETH; WAXMAN, IRVING; ABLEY, CHRIS; LOFT, DUNCAN; PENMAN, IAN; SHAHEEN, NICHOLAS J.; CHAK, AMITABH; DAVIES, GARETH; DUNN, LORNA; FALCK–YTTER, YNGVE; DECAESTECKER, JOHN; BHANDARI, PRADEEP; ELL, CHRISTIAN; GRIFFIN, S. MICHAEL; ATTWOOD, STEPHEN; BARR, HUGH; ALLEN, JOHN; FERGUSON, MARK K.; MOAYYEDI, PAUL; JANKOWSKI, JANUSZ A. Z.

2017-01-01

BACKGROUND & AIMS Esophageal adenocarcinoma (EA) is increasingly common among patients with Barrett’s esophagus (BE). We aimed to provide consensus recommendations based on the medical literature that clinicians could use to manage patients with BE and low-grade dysplasia, high-grade dysplasia (HGD), or early-stage EA. METHODS We performed an international, multidisciplinary, systematic, evidence-based review of different management strategies for patients with BE and dysplasia or early-stage EA. We used a Delphi process to develop consensus statements. The results of literature searches were screened using a unique, interactive, Web-based data-sifting platform; we used 11,904 papers to inform the choice of statements selected. An a priori threshold of 80% agreement was used to establish consensus for each statement. RESULTS Eighty-one of the 91 statements achieved consensus despite generally low quality of evidence, including 8 clinical statements: (1) specimens from endoscopic resection are better than biopsies for staging lesions, (2) it is important to carefully map the size of the dysplastic areas, (3) patients that receive ablative or surgical therapy require endoscopic follow-up, (4) high-resolution endoscopy is necessary for accurate diagnosis, (5) endoscopic therapy for HGD is preferred to surveillance, (6) endoscopic therapy for HGD is preferred to surgery, (7) the combination of endoscopic resection and radiofrequency ablation is the most effective therapy, and (8) after endoscopic removal of lesions from patients with HGD, all areas of BE should be ablated. CONCLUSIONS We developed a data-sifting platform and used the Delphi process to create evidence-based consensus statements for the management of patients with BE and early-stage EA. This approach identified important clinical features of the diseases and areas for future studies. PMID:22537613

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.

Gastroscopic screening in 80 patients with pernicious anaemia.

PubMed Central

Stockbrügger, R W; Menon, G G; Beilby, J O; Mason, R R; Cotton, P B

1983-01-01

We have studied 80 patients with pernicious anaemia. Upper gastrointestinal endoscopy (with biopsy and cytology) showed no lesion other than atrophic gastritis in 34 patients. Thirty three patients, however, had varying degrees of gastric mucosal dysplasia, which was detected more frequently by histology than by cytology. The endoscopic appearance of the mucosa was abnormal in four of the six patients with moderate dysplasia, and in all three patients with severe dysplasia. One patient was found to have a small carcinoma in the gastric antrum, and underwent total gastrectomy; 18 patients had polyps (often multiple); four of these were treated by endoscopic polypectomy. One of the patients with polyps had multiple carcinoid tumours, and an asymptomatic parathyroid adenoma. Seventeen of the patients also underwent barium meal examination; abnormalities were revealed in only three of the seven patients with lesions visible at endoscopy. Our results justify further endoscopic studies in patients with pernicious anaemia, and sequential examinations to establish the natural history of gastric dysplasia. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 PMID:6642278

Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.

PubMed

Ramírez-Alejo, Noé; Alcántara-Montiel, Julio C; Yamazaki-Nakashimada, Marco; Duran-McKinster, Carola; Valenzuela-León, Paola; Rivas-Larrauri, Francisco; Cedillo-Barrón, Leticia; Hernández-Rivas, Rosaura; Santos-Argumedo, Leopoldo

2015-10-01

NF-κB essential modulator (NEMO) is a component of the IKK complex, which participates in the activation of the NF-κB pathway. Hypomorphic mutations in the IKBKG gene result in different forms of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males without affecting carrier females. Here, we describe a hypomorphic and missense mutation, designated c.916G>A (p.D306N), which affects our patient, his mother, and his sister. This mutation did not affect NEMO expression; however, an immunoprecipitation assay revealed reduced ubiquitylation upon CD40-stimulation in the patient's cells. Functional studies have demonstrated reduced phosphorylation and degradation of IκBα, affecting NF-κB recruitment into the nucleus. The patient presented with clinical features of ectodermal dysplasia, immunodeficiency, and immune thrombocytopenic purpura, the latter of which has not been previously reported in a patient with NEMO deficiency. His mother and sister displayed incontinentia pigmenti indicating that, in addition to amorphic mutations, hypomorphic mutations in NEMO can affect females. Copyright © 2015 Elsevier Inc. All rights reserved.

Scanning Electron Microscopic Hair Shaft Analysis in Ectodermal Dysplasia Syndromes.

PubMed

Hirano-Ali, Stefanie A; Reed, Ashley M; Rowan, Brandon J; Sorrells, Timothy; Williams, Judith V; Pariser, David M; Hood, Antoinette F; Salkey, Kimberly

2015-01-01

The objective of the current study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using scanning electron microscopy (SEM) and to compare the findings with those in unaffected controls. This is the second of a two-part study, the first of which used light microscopy as the modality and was previously published. Scanning electron microscopy was performed in a blinded manner on hair shafts from 65 subjects with seven types of ED syndromes and 41 unaffected control subjects. Assessment was performed along the length of the shaft and in cross section. Hair donations were collected at the 28th Annual National Family Conference held by the National Foundation for Ectodermal Dysplasia. Control subjects were recruited from a private dermatology practice and an academic children's hospital outpatient dermatology clinic. SEM identified various pathologic hair shaft abnormalities in each type of ED and in control patients. When hairs with all types of ED were grouped together and compared with those of control patients, the difference in the presence of small diameter and shallow and deep grooves was statistically significant (p < 0.05). When the EDs were separated according to subtype, statistically significant findings were also seen. SEM is a possible adjuvant tool in the diagnosis of ED syndromes. There are significant differences, with high specificity, between the hairs of individuals with ED and those of control subjects and between subtypes. © 2015 Wiley Periodicals, Inc.

Characterisation of colonic dysplasia-like epithelial atypia in murine colitis

PubMed Central

Randall-Demllo, Sarron; Fernando, Ruchira; Brain, Terry; Sohal, Sukhwinder Singh; Cook, Anthony L; Guven, Nuri; Kunde, Dale; Spring, Kevin; Eri, Rajaraman

2016-01-01

AIM To determine if exacerbation of pre-existing chronic colitis in Winnie (Muc2 mutant) mice induces colonic dysplasia. METHODS Winnie mice and C57BL6 as a genotype control, were administered 1% w/v dextran sulphate sodium (DSS) orally, followed by drinking water alone in week-long cycles for a total of three cycles. After the third cycle, mice were killed and colonic tissue collected for histological and immunohistochemical evaluation. Inflammation and severity of dysplasia in the colonic mucosa were assessed in H&E sections of the colon. Epithelial cell proliferation was assessed using Ki67 and aberrant β-catenin signalling assessed with enzyme-based immunohistochemistry. Extracted RNA from colonic segments was used for the analysis of gene expression using real-time quantitative PCR. Finally, the distribution of Cxcl5 was visualised using immunohistochemistry. RESULTS Compared to controls, Winnie mice exposed to three cycles of DSS displayed inflammation mostly confined to the distal-mid colon with extensive mucosal hyperplasia and regenerative atypia resembling epithelial dysplasia. Dysplasia-like changes were observed in 100% of Winnie mice exposed to DSS, with 55% of these animals displaying changes similar to high-grade dysplasia, whereas high-grade changes were absent in wild-type mice. Occasional penetration of the muscularis mucosae by atypical crypts was observed in 27% of Winnie mice after DSS. Atypical crypts however displayed no evidence of oncogenic nuclear β-catenin accumulation, regardless of histological severity. Expression of Cav1, Trp53 was differentially regulated in the distal colon of Winnie relative to wild-type mice. Expression of Myc and Ccl5 was increased by DSS treatment in Winnie only. Furthermore, increased Ccl5 expression correlated with increased complexity in abnormal crypts. While no overall difference in Cxcl5 mucosal expression was observed between treatment groups, epithelial Cxcl5 protein appeared to be diminished in the

Genomics of Fibromuscular Dysplasia.

PubMed

Di Monaco, Silvia; Georges, Adrien; Lengelé, Jean-Philippe; Vikkula, Miikka; Persu, Alexandre

2018-05-21

Fibromuscular Dysplasia (FMD) is “an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries” (Persu, et al; 2014). FMD can lead to hypertension, arterial dissections, subarachnoid haemorrhage, stroke or mesenteric ischemia. The pathophysiology of the disease remains elusive. While familial cases are rare (<5%) in contemporary FMD registries, there is evidence in favour of the existence of multiple genetic factors involved in this vascular disease. Recent collaborative efforts allowed the identification of a first genetic locus associated with FMD. This intronic variant located in the phosphatase and actin regulator 1 gene ( PHACTR1 ) may influence the transcription activity of the endothelin-1 gene ( EDN1 ) located nearby on chromosome 6. Interestingly, the PHACTR1 locus has also been involved in vascular hypertrophy in normal subjects, carotid dissection, migraine and coronary artery disease. National and international registries of FMD patients, with deep and harmonised phenotypic and genetic characterisation, are expected to be instrumental to improve our understanding of the genetic basis and pathophysiology of this intriguing vascular disease.

Bizarre cell dysplasia of the cervix.

PubMed

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

2017-02-01

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

Pamidronic acid and cabergoline as effective long-term therapy in a 12-year-old girl with extended facial polyostotic fibrous dysplasia, prolactinoma and acromegaly in McCune-Albright syndrome: a case report

PubMed Central

2012-01-01

Introduction McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dysplasia, typically involving the facial skull, numerous café-au-lait spots and autonomous hyperfunctions of several endocrine systems, leading to hyperthyroidism, hypercortisolism, precocious puberty and acromegaly. Case presentation Here, we describe a 12-year-old Caucasian girl with severe facial involvement of fibrous dysplasia, along with massive acromegaly due to growth hormone excess and precocious puberty, with a prolactinoma. Our patient was treated with a bisphosphonate and the prolactin antagonist, cabergoline, resulting in the inhibition of fibrous dysplasia and involution of both the prolactinoma and growth hormone excess. During a follow-up of more than two years, no severe side effects were noted. Conclusion Treatment with bisphosphonates in combination with cabergoline is a suitable option in patients with McCune-Albright syndrome, especially in order to circumvent surgical interventions in patients suffering from polyostotic fibrous dysplasia involving the skull base. PMID:22273876

Hip Dysplasia: Clinical Signs and Physical Examination Findings.

PubMed

Syrcle, Jason

2017-07-01

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

A Tissue Systems Pathology Test Detects Abnormalities Associated with Prevalent High-Grade Dysplasia and Esophageal Cancer in Barrett's Esophagus.

PubMed

Critchley-Thorne, Rebecca J; Davison, Jon M; Prichard, Jeffrey W; Reese, Lia M; Zhang, Yi; Repa, Kathleen; Li, Jinhong; Diehl, David L; Jhala, Nirag C; Ginsberg, Gregory G; DeMarshall, Maureen; Foxwell, Tyler; Jobe, Blair A; Zaidi, Ali H; Duits, Lucas C; Bergman, Jacques J G H M; Rustgi, Anil; Falk, Gary W

2017-02-01

There is a need for improved tools to detect high-grade dysplasia (HGD) and esophageal adenocarcinoma (EAC) in patients with Barrett's esophagus. In previous work, we demonstrated that a 3-tier classifier predicted risk of incident progression in Barrett's esophagus. Our aim was to determine whether this risk classifier could detect a field effect in nondysplastic (ND), indefinite for dysplasia (IND), or low-grade dysplasia (LGD) biopsies from Barrett's esophagus patients with prevalent HGD/EAC. We performed a multi-institutional case-control study to evaluate a previously developed risk classifier that is based upon quantitative image features derived from 9 biomarkers and morphology, and predicts risk for HGD/EAC in Barrett's esophagus patients. The risk classifier was evaluated in ND, IND, and LGD biopsies from Barrett's esophagus patients diagnosed with HGD/EAC on repeat endoscopy (prevalent cases, n = 30, median time to HGD/EAC diagnosis 140.5 days) and nonprogressors (controls, n = 145, median HGD/EAC-free surveillance time 2,015 days). The risk classifier stratified prevalent cases and non-progressor patients into low-, intermediate-, and high-risk classes [OR, 46.0; 95% confidence interval, 14.86-169 (high-risk vs. low-risk); P < 0.0001]. The classifier also provided independent prognostic information that outperformed the subspecialist and generalist diagnosis. A tissue systems pathology test better predicts prevalent HGD/EAC in Barrett's esophagus patients than pathologic variables. The results indicate that molecular and cellular changes associated with malignant transformation in Barrett's esophagus may be detectable as a field effect using the test. A tissue systems pathology test may provide an objective method to facilitate earlier identification of Barrett's esophagus patients requiring therapeutic intervention. Cancer Epidemiol Biomarkers Prev; 26(2); 240-8. ©2016 AACR. ©2016 American Association for Cancer Research.

Dual Pathology in Rasmussen's Encephalitis: A Report of Coexistent Focal Cortical Dysplasia and Review of the Literature.

PubMed

Prayson, Richard A

2012-01-01

Rasmussen's encephalitis is a well-established, albeit rare cause of medically intractable epilepsy. In a small number of Rasmussen's cases, a second pathology is identified, which independently can cause medically intractable seizures (dual pathology). This paper documents a case of a 13-year-old male who presented with medically intractable epilepsy. The patient underwent a series of surgical resections, early on resulting in a diagnosis of focal cortical dysplasia and later yielding a diagnosis of coexistent Rasmussen's encephalitis, marked by chronic inflammation, microglial nodules, and focal cortical atrophy, combined with focal cortical dysplasia (Palmini et al. type IIA, ILAE type IIA). The literature on dual pathology in the setting of Rasmussen's encephalitis is reviewed.

Dual Pathology in Rasmussen's Encephalitis: A Report of Coexistent Focal Cortical Dysplasia and Review of the Literature

PubMed Central

Prayson, Richard A.

2012-01-01

Rasmussen's encephalitis is a well-established, albeit rare cause of medically intractable epilepsy. In a small number of Rasmussen's cases, a second pathology is identified, which independently can cause medically intractable seizures (dual pathology). This paper documents a case of a 13-year-old male who presented with medically intractable epilepsy. The patient underwent a series of surgical resections, early on resulting in a diagnosis of focal cortical dysplasia and later yielding a diagnosis of coexistent Rasmussen's encephalitis, marked by chronic inflammation, microglial nodules, and focal cortical atrophy, combined with focal cortical dysplasia (Palmini et al. type IIA, ILAE type IIA). The literature on dual pathology in the setting of Rasmussen's encephalitis is reviewed. PMID:23056977

Dental Perspectives in Fibrous Dysplasia and McCune-Albright Syndrome

PubMed Central

Akintoye, Sunday O.; Boyce, Alison M.; Collins, Michael T.

2013-01-01

McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (PFD), endocrine disorders and café-au-lait skin pigmentation. Ninety percent of MAS patients have FD lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, bone pain and compromised oral health. Maxillo-mandibular FD is also associated with dental developmental disorders, malocclusion, and high caries index. There is limited data on the outcomes of dental treatments in maxillo-mandibular FD/MAS patients, because clinicians and researchers have limited access to patients, and there are concerns that dental surgery may activate quiescent jaw FD lesions to grow aggressively. This report highlights current perspectives on dental management issues associated with maxillo-mandibular FD within the context of MAS. PMID:23953425

Bronchopulmonary dysplasia: improvement in lung function between 7 and 10 years of age.

PubMed

Blayney, M; Kerem, E; Whyte, H; O'Brodovich, H

1991-02-01

To evaluate the natural history of bronchopulmonary dysplasia, we studied the same 32 patients at a mean age of 7 and 10 years. The group as a whole had normal height and weight percentiles, and each child grew along his or her established somatic growth curve. Although some children had abnormal values, the group maintained a normal mean total lung capacity and functional residual capacity. The mean residual volume and the residual volume/total lung capacity ratios were elevated at both ages. At age 7 years the 19 patients (59%) who had a forced expiratory volume in 1 second (FEV1) of less than 80% had "catch up" improvement by 10 years of age (65 +/- 11% to 72 +/- 16% of predicted value; p less than 0.05). All the children who had a normal FEV1 at 7 years of age continued to have a normal FEV1 at age 10 years. Resting single-breath carbon monoxide uptake by the lung was normal when measured at age 10 years. The majority of patients had a positive methacholine challenge test result at both ages, although there was a low incidence of clinically diagnosed asthma. This study demonstrates that patients with bronchopulmonary dysplasia who have normal lung function at age 7 have had normal lung growth and that those with evidence of mild to moderate lung disease have continued lung growth or repair, or both, during their school years.

FOXI2: a possible gene contributing to ectodermal dysplasia.

PubMed

Kurban, Mazen; Zeineddine, Savo Bou; Hamie, Lamiaa; Safi, Remi; Abbas, Ossama; Kibbi, Abdul Ghani; Bitar, Fadi; Nemer, Georges

2017-12-01

Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2 was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia. We therefore suggest screening for FOXI2 mutation in the setting of ectodermal features that are not associated with genes known to contribute to ectodermal dysplasia.

Multimodal Approach for Radical Excision of Focal Cortical Dysplasia by Combining Advanced Magnetic Resonance Imaging Data to Intraoperative Ultrasound, Electrocorticography, and Cortical Stimulation: A Preliminary Experience.

PubMed

Tringali, Giovanni; Bono, Beatrice; Dones, Ivano; Cordella, Roberto; Didato, Giuseppe; Villani, Flavio; Prada, Francesco

2018-05-01

Type II focal cortical dysplasia is the most common malformation of cortical development associated with drug resistant epilepsy and susceptible to surgical resection. Although, at present, advanced imaging modalities are capable of detecting most cortical disorders, it is still a challenge for the surgeon to visualize them intraoperatively. The lack of direct identification between normal brain and subtle dysplastic tissue may explain the poor results in terms of being seizure-free versus other forms of epilepsy. The aim of this study is to compare magnetic resonance imaging (MRI) and intraoperative ultrasound-guided neuronavigation, along with cortical stimulation and acute electrocorticography, as a multimodal surgical approach to cortical dysplasia's tailored resection. Six consecutive patients with type II cortical dysplasia underwent epilepsy surgery by means of MRI/intraoperative ultrasound-guided neuronavigation. Intraoperative cortical stimulation of sensory/motor cortex was performed to localize cortical eloquent areas. Acute electrocorticography was used to identify epileptogenic tissue. These findings were correlated to real-time ultrasound imaging to establish the extent of the resection. Intraoperative ultrasound depicted cortical dysplasias at a higher resolution and accuracy than MRI. Therefore it maximized the extent of the resection. Both postoperative MRIs and pathology documented the extent of the resection in all patients. Seizure-freedom was achieved in 5 cases (Engel class IA), and in 1 patient it was classified as Engel class IB. No postoperative neurological deficits were observed. These results strongly suggest feasibility of ultrasound-guided resection of focal cortical dysplasia. Providing high resolution and accuracy, it allows an easy, real-time discrimination between normal and dysplastic brain. Copyright © 2018 Elsevier Inc. All rights reserved.

Maxillectomy for Cementifying Osseous Dysplasia of the Maxilla: A Case Report.

PubMed

Akbulut, Sevtap; Demir, Mehmet Gokhan; Basak, Kayhan; Paksoy, Mustafa

2015-01-01

Osseous dysplasias are the most common subtype of fibro-osseous lesions of the maxillofacial bones. They are benign and often present as incidental asymptomatic lesions. Diagnosis can be made with clinical and radiographic examination. This article reports the case of a 47-year-old man with a huge cementifying osseous dysplasia of the maxilla that presented with secondary infection after teeth extraction and repair of oroantral fistula. A subtotal maxillectomy had to be done after conservative treatment failed to resolve the infection. Biopsy, tooth extraction or surgical trauma to the affected bones of osseous dysplasia could easily lead to severe secondary infection, the treatment of which may be very difficult, and thus should be avoided if possible.

Florid cemento-osseous dysplasia: Report of a case documented with clinical, radiographic, biochemical and histological findings

PubMed Central

Çankal, Dilek A.; Bozkaya, Süleyman; Ergün, Gülfem; Bar??, Emre

2013-01-01

Florid cemento-osseous dysplasia (FCOD) has been described as a condition that characteristically affects the jaws of middle-aged black women. This condition has also been classified as gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis, multiple estenosis and sclerotic cemental masses. It usually exhibits as multiple radiopaque cementum-like masses distributed throughout the jaws. Radiographically, FCOD appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. Computed tomography, because of its ability to give axial, sagittal, and frontal views, is useful in the evaluation of these lesions. This article reports the case of a 45-year-old white man who was diagnosed with FCOD on the basis of clinical, radiographic, biochemical and histological findings. It is of major importance to realize that all dentists have a unique opportunity as well as ethical obligation to assist in the struggle against wrong dental treatments that might save patients dental health. This case report illustrates the point that periapical radiolucencies may represent benign fibro-osseous lesions that may be overlooked or result in unnecessary endodontic treatment. Key words:Florid cemento-osseous dysplasia, florid osseous dysplasia, fibro-osseous lesions. PMID:24455053

Florid cemento-osseous dysplasia: Report of a case documented with clinical, radiographic, biochemical and histological findings.

PubMed

Kutluay Köklü, Harika; Cankal, Dilek A; Bozkaya, Süleyman; Ergün, Gülfem; Bar, Emre

2013-02-01

Florid cemento-osseous dysplasia (FCOD) has been described as a condition that characteristically affects the jaws of middle-aged black women. This condition has also been classified as gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis, multiple estenosis and sclerotic cemental masses. It usually exhibits as multiple radiopaque cementum-like masses distributed throughout the jaws. Radiographically, FCOD appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. Computed tomography, because of its ability to give axial, sagittal, and frontal views, is useful in the evaluation of these lesions. This article reports the case of a 45-year-old white man who was diagnosed with FCOD on the basis of clinical, radiographic, biochemical and histological findings. It is of major importance to realize that all dentists have a unique opportunity as well as ethical obligation to assist in the struggle against wrong dental treatments that might save patients dental health. This case report illustrates the point that periapical radiolucencies may represent benign fibro-osseous lesions that may be overlooked or result in unnecessary endodontic treatment. Key words:Florid cemento-osseous dysplasia, florid osseous dysplasia, fibro-osseous lesions.

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

PubMed

Sen, Partha; Dharmadhikari, Avinash V; 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.

Surgical Management of Polyostotic Craniofacial Fibrous Dysplasia: Long-Term Outcomes and Predictors for Postoperative Regrowth

PubMed Central

Boyce, Alison M.; Burke, Andrea; Peck, Carolee Cutler; DuFresne, Craig R.; Lee, Janice S.; Collins, Michael T.

2017-01-01

Background The mainstay of treatment for craniofacial fibrous dysplasia is surgical; however, optimal indications and techniques are poorly understood, particularly in polyostotic disease and McCune-Albright syndrome. This study investigated surgical indications and risk factors for recurrence in a large cohort. Methods One hundred thirty-three craniofacial fibrous dysplasia subjects in a natural history study were evaluated. Radiographic studies, operative reports, and clinical records were reviewed. Results Thirty-six subjects underwent 103 craniofacial procedures (mean, 2.8 operations per subject), with 13.5 ± 10.5-year follow-up (range, 0 to 39 years). The most common indication was craniofacial deformity (n = 61 operations), including 36 initial operations (59 percent) and 26 reoperations (41 percent). Mean time to reoperation was 3.4 ± 3.2 years (range, 0.3 to 13.3 years). Re-growth occurred after 42 operations (68 percent), and was more frequent after operations in subjects with McCune-Albright syndrome growth hormone excess [22 of 25 operations (88 percent)] than without growth hormone excess [15 of 36 operations (58 percent); p = 0.02]. Of 11 subjects with growth hormone excess, nine (82 percent) were undiagnosed at the time of their initial operation. Regrowth was more frequent after debulking procedures [31 of 38 (82 percent)] than after more aggressive reconstructions [nine of 20 (45 percent); p = 0.007]. Eleven subjects underwent treatment for aneurysmal bone cysts, with recurrence in one subject. Eleven subjects underwent biopsies and none had complications or regrowth. Conclusions Craniofacial fibrous dysplasia regrowth and reoperation are common, particularly after debulking procedures. Outcomes are favorable for aneurysmal bone cysts and biopsies. McCune-Albright syndrome growth hormone excess is a risk factor for regrowth, and may be underdiagnosed in surgical patients. Surgeons should be aware of appropriate screening for endocrinopathies in

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

PubMed

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

2016-04-01

Two distinct syndromes that link α-thalassemia and intellectual disability (ID) have been described: ATR-X, due to mutations in the ATRX gene, and ATR-16, a contiguous gene deletion syndrome in the telomeric region of the short arm of chromosome 16. A critical region where the candidate genes for the ID map has been established. In a pediatric patient with Hemoglobin H disease, dysmorphic features and ID, 4 novel and clinically relevant Copy Number Variants were identified. PCR-GAP, MLPA and FISH analyses established the cause of the α-thalassemia. SNP-array analysis revealed the presence of 4 altered loci: 3 deletions (arr[hg19]Chr16(16p13.3; 88,165-1,507,988) x1; arr[hg19]Chr6(6p21.1; 44,798,701-45,334,537) x1 and arr[hg19]Chr17(17q25.3; 80,544,855-81,057,996) x1) and a terminal duplication (arr[hg19]Chr7(7p22.3-p22.2; 4,935-4,139,785) x3). The -α(3.7) mutation and the ∼1.51 Mb in 16p13.3 are involved in the alpha-thalassemic phenotype. However, the critical region for ATR-16 cannot be narrowed down. The deletion affecting 6p21.1 removes the first 2 exons and part of intron 2 of the RUNX2 gene. Although heterozygous loss of function mutations affecting this gene have been associated with cleidocranial dysplasia, the patient does not exhibit pathognomonic signs of this syndrome, possibly due to the fact that the isoform d of the transcription factor remains unaffected. This work highlights the importance of searching for cryptic deletions in patients with ID and reiterates the need of the molecular analysis when it is associated to microcytic hypochromic anemia with normal iron status. © 2016 Wiley Periodicals, Inc.

Depression and anxiety before and after limb length discrepancy correction in patients with unilateral developmental dysplasia of the hip.

PubMed

Liu, Ruiyu; Li, Yongwei; Fan, Lihong; Mu, Mingchao; Wang, Kunzheng; Song, Wei

2015-12-01

Limb length discrepancy (LLD) is common in patients with developmental dysplasia of the hip (DDH) and may influence the psychological status of these patients. The present study aims to investigate depression and anxiety in DDH patients with different extents of LLD and to assess the effect of LLD correction on these two psychological factors. 161 patients with DDH were recruited and divided into two groups based on whether they could perceive LLD preoperatively. The patients who could not perceive LLD were assigned to group N, and those who could perceive LLD were assigned to group P. Depression/anxiety, Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) scores and LLD were assessed one week before, six months and two years after total hip arthroplasty (THA). Depression and anxiety were significantly higher in group P patients compared to group N patients. The patients in group N presented significant improvement in depression and anxiety six months after arthroplasty, while DDH patients in group P did two years after arthroplasty. Correlation analyses revealed their improvement was associated with pain relief and improved hip function in both groups of patients and was also related to changes in the perception of LLD in group P patients. Depression and anxiety levels were higher in DDH patients with perceived LLD. Their improvement was related to pain relief and improved hip function following THA. In DDH patients with perceived LLD, a change in the perception of LLD also played a part in their improvement. Copyright © 2015 Elsevier Inc. All rights reserved.

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.

Restoration of Oral Function for Adult Edentulous Patients with Ectodermal Dysplasia: A Prospective Preliminary Clinical Study.

PubMed

Wu, Yiqun; Wang, Xu Dong; Wang, Feng; Huang, Wei; Zhang, Zhiyong; Zhang, Zhiyuan; Kaigler, Darnell; Zou, Duohong

2015-10-01

Therapy with zygomatic implants (ZIs) or conventional implants (CIs) has proven to be an effective method to restore oral function for systemically healthy patients. However, it is still a major challenge to fully restore oral function to edentulous adult patients with ectodermal dysplasia (ED). The aim of this study was to determine an effective treatment protocol for restoring oral function using ZIs and CIs to edentulous adult ED patients. Ten edentulous adult ED patients were treated in this study. The treatment protocol involved the following: (1) bone augmentation in the region of the anterior teeth; (2) placement of two ZIs and four CIs in the maxilla, and four CIs in the mandible; (3) fabrication of dental prosthesis; and (4) psychological and oral education. Following treatment of these patients, implant success rates, biological complications, patient satisfaction, and psychological changes were recorded. Although there was evidence of bone graft resorption in the maxilla, bone augmentation of the mandible was successful in all patients. Nine CIs in the maxilla failed and were removed. All ZIs were successful, and the CIs success rates were 77.50% in the maxilla and 100% in the mandible, with a mean of 88.75%. The mean peri-implant bone resorption for the CIs ranged from 1.3 ± 0.4 mm to 1.8 ± 0.6 mm, and four cases exhibited gingival hyperplasia in the maxilla and mandible. One hundred percent of the patients were satisfied with the restoration of their oral function, and >50% of the patients exhibited enhanced self-confidence and self-esteem. This study demonstrates that oral function can be restored in edentulous adult ED patients using a comprehensive and systematic treatment protocol involving psychological and oral education, bone augmentation, implant placement, and denture fabrication. Despite these positive outcomes, bone augmentation remains challenging in the anterior region of the maxilla for edentulous adult ED patients. © 2015

Management of Barrett's high-grade dysplasia: initial results from a population-based national audit.

PubMed

Chadwick, Georgina; Groene, Oliver; Taylor, Angelina; Riley, Stuart; Hardwick, Richard H; Crosby, Tom; Greenaway, Kimberley; Cromwell, David A

2016-04-01

Previous studies reported significant variation in the management of patients with Barrett's esophagus. However, these are based on self-reported clinical practice. The aim of this study was to examine the management of high-grade dysplasia in Barrett's esophagus in England by using patient-level data and to compare practice with guidelines. From April 2012 to March 2013, National Health Service (NHS) trusts in England prospectively collected data on patients newly diagnosed with high-grade dysplasia (HGD) of the esophagus as part of the National Oesophago-Gastric Cancer Audit. Data were collected on patient characteristics, diagnosis and endoscopic findings, treatment planning, and therapy. Between April 2012 and March 2013, NHS trusts reported 465 cases of HGD. Diagnosis was confirmed by a second pathologist in 79.4% of cases (270/340), and 86.0% (374/465) had their treatment planned at a multidisciplinary team meeting. A total of 290 patients (62.4%) were managed endoscopically (frequently with endoscopic resection or radiofrequency ablation), whereas 26 patients (5.6%) had esophagectomy. The proportion of patients managed by surveillance varied by age (P < .001), ranging from 19.5% in patients aged <65 years to 63.8% in patients aged ≥85 years. More patients received active treatment if their cases were discussed at a multidisciplinary meeting (73.5% vs 44.3%; P < .001) or managed at higher-volume trusts (87.8% vs 55.4%; P < .001). There was marked variation in the management of HGD across England, with a third of patients receiving no active treatment. Patients discussed at a specialist multidisciplinary meeting or managed in high-volume trusts were more likely to receive active treatment. Copyright © 2016 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.

Newly defined aberrant crypt foci as a marker for dysplasia in the rat colon

PubMed Central

Ochiai, Masako; Hippo, Yoshitaka; Izumiya, Masashi; Watanabe, Masatoshi; Nakagama, Hitoshi

2014-01-01

Dysplasia represents a preneoplastic status in multistep colon carcinogenesis. Whereas laborious preparation of thin sections is required for its diagnosis, we here show that newly defined aberrant crypt foci (ACF) simply mark the majority of the dysplasia on the whole colon. Specifically, decoloring of the azoxymethane-treated rat colon after scoring classical ACF (cACF) resulted in visualization of a subset of aberrant crypts that remained densely stained. They were morphologically classified into three subtypes, of which two with compressed luminal openings proved highly correlated with dysplasia. Accordingly, we designated those foci harboring either of the two crypt subtypes as dysplasia-associated ACF (dACF). By serially applying different detection methods for known preneoplastic lesions to the same colon, we showed that most dACF had already been identified as cACF, and a few newly identified dACF contained an entire population of more advanced lesions, such as flat ACF and mucin-depleted foci. Consequently, integrative scoring of cACF and dACF enabled capture of all early lesions of the colon. Furthermore, 94% of the dACF showed dysplasia and 90% of the dysplastic lesions proved to be dACF. Thus, dACF is a promising marker for dysplasia, likely facilitating precise identification of the early stages of colon carcinogenesis. PMID:24827115

p53 expression and mutation analysis of odontogenic cysts with and without dysplasia.

PubMed

Cox, Darren P

2012-01-01

Overexpression of p53 protein is well described in odontogenic cystic lesions (OCLs), including those with epithelial dysplasia; however, most p53 antibodies stain both wild-type and mutated p53 protein and may not reflect genotype. Direct sequencing of the p53 gene has not identified mutations in OCLs with dysplasia. The purpose of this study was to determine the molecular basis of p53 expression in several types of OCLs with and without dysplasia. The study material comprised 13 OCLs: odontogenic keratocyst (n = 5), orthokeratinized odontogenic cyst (n = 5), dentigerous cyst (n = 2), lateral periodontal cyst (n = 1), and unspecified developmental odontogenic cyst (UDOC) (n = 1). Five of these had features of mild or moderate epithelial dysplasia. One intraosseous squamous cell carcinoma (SCC) that was believed to have arisen from an antecedent dysplastic orthokeratinized OC was also included. Immunohistochemistry was performed using the DO7 monoclonal antibody that recognizes wild-type and mutated p53. DNA was extracted from microdissected tissue for all samples and exons 4 to 8 of the p53 gene direct sequenced. In 4 of 5 OCLs with dysplasia there was strong nuclear staining of basal and suprabasal cells. In all cases without dysplasia, nuclear expression in basal cells was either negative or weak and was absent in suprabasal cell nuclei. A mutation in exon 6 of the p53 gene (E224D) was identified in both the dysplastic orthokeratinized OC and the subsequent intraosseous SCC. OCLs with features of dysplasia show increased expression of p53 protein that does not reflect p53 mutational status. One dysplastic OC shared the same p53 mutation with a subsequent intraosseous SCC, indicating that p53 mutation may be associated with malignant transformation in this case. Copyright © 2012 Elsevier Inc. All rights reserved.

Risk of high-grade cervical dysplasia and cervical cancer in women with systemic lupus erythematosus receiving immunosuppressive drugs.

PubMed

Feldman, C H; Liu, J; Feldman, S; Solomon, D H; Kim, S C

2017-06-01

Objective Prior studies suggest an increased risk of cervical cancer among women with systemic lupus erythematosus. However, the relationship with immunosuppressive drugs is not well studied in US nationwide cohorts. We compared the risk of high-grade cervical dysplasia and cervical cancer among women with systemic lupus erythematosus who started immunosuppressive drugs versus hydroxychloroquine. Methods We identified systemic lupus erythematosus patients initiating immunosuppressive drugs or hydroxychloroquine using claims data from two US commercial health plans and Medicaid (2000-2012). We used a validated claims-based algorithm to identify high-grade cervical dysplasia or cervical cancer. To account for potential confounders, including demographic factors, comorbidities, medication use, HPV vaccination status, and health care utilization, immunosuppressive drugs and hydroxychloroquine initiators were 1:1 matched on the propensity score. We used inverse variance-weighted, fixed effect models to pool hazard ratios from the propensity score-matched Medicaid and commercial cohorts. Results We included 2451 matched pairs of immunosuppressive drugs and hydroxychloroquine new users in the commercial cohort and 7690 matched pairs in Medicaid. In the commercial cohort, there were 14 cases of cervical dysplasia or cervical cancer among immunosuppressive drugs users and five cases among hydroxychloroquine users (hazard ratio 2.47, 95% CI 0.89-6.85, hydroxychloroquine = ref). In Medicaid, there were 46 cases among immunosuppressive drugs users and 29 cases in hydroxychloroquine users (hazard ratio 1.24, 95% CI 0.78-1.98, hydroxychloroquine = ref). The pooled hazard ratio of immunosuppressive drugs was 1.40 (95% CI 0.92-2.12). Conclusion Among women with systemic lupus erythematosus, immunosuppressive drugs may be associated with a greater, albeit not statistically significant, risk of high-grade cervical dysplasia and cervical cancer compared to patients receiving

Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

PubMed Central

Woods, C G; Rogers, J G; Mayne, V

1994-01-01

We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have shown characteristic features of both conditions and have grown less well than expected for achondroplasia. Radiographs show the striking synergistic effects of the two conditions. MRI in both sibs confirmed brain stem compression at the foramen magnum. This may be an important complication and should be actively sought in any double heterozygote. Images PMID:7966194

Placental mesenchymal dysplasia complicated by hydrops fetalis and fetal death: a case report.

PubMed

Akbarzadeh-Jahromi, Mojgan; Sari Aslani, Fatemeh; Parvari, Shams

2013-09-01

Placental mesenchymal dysplasia is a rare condition of the placenta and its true incidence and underlying cause has remained unknown till now due to its rarity. Its accurate diagnosis is essential, because placental mesenchymal dysplasia is usually compatible with a good fetal and maternal outcome. A precise ultrasonographic evaluation can contribute to the identification of characteristic features, particularly to discriminate it from partial hydatidiform mole, its main differential diagnosis. We report an early third-trimester pathologically- diagnosed case of placental mesenchymal dysplasia. It was complicated by fetal hydrops and death. 

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

PubMed

Guazzarotti, L; Tadini, G; Mancini, G E; Giglio, S; Willoughby, C E; Callea, M; Sani, I; Nannini, P; Mameli, C; Tenconi, A A; Mauri, S; Bottero, A; Caimi, A; Morelli, M; Zuccotti, G V

2015-04-01

Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterizing the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

PubMed Central

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

2016-01-01

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

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

PubMed

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

2016-01-01

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

CBCT findings of periapical cemento-osseous dysplasia: A case report.

PubMed

Eskandarloo, Amir; Yousefi, Faezeh

2013-09-01

Periapical cemento-osseous dysplasia (PCOD) is a subtype of cemento-osseous dysplasia that usually occurs in middle-aged black women. This report described a case of a 45-year-old Iranian woman who was diagnosed with PCOD on the basis of cone beam computed tomographic (CBCT) findings. CBCT enabled detailed visualization of the bone changes. This report described the special radiographic characteristics of PCOD, including discontinuity of the lingual cortex on the CBCT sectional and three-dimensional images.

[Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion].

PubMed

Shi, Hui-juan; Fang, Qun; Wang, Lian-tang

2005-07-13

To investigate the possibility of prenatal diagnosis of the fetal suspected to be affected by anhidrotic ectodermal dysplasia (EDA) in a family with X-linked EDA so as to provide a basis for prenatal diagnosis and genetic counseling of this disorder. Pedigree analysis and genetic counseling were performed in a family after a proband was diagnosed with EDA. The peripheral blood samples were collected from the proband, a 12-year-old boy, his mother, and his 2 aunts, one being pregnant, to undergo chromosome karyotype analysis. The fetus Puncture of umbilical vein was performed to collect the blood of fetus for chromosome examination. Induced abortion was conducted due to the diagnosis of the fetus with EDA. Autopsy, immunohistochemistry of the skin tissues of face, breast, epigastrium, and thigh, and X-ray photography of the lower jawbone were made. Pericentric inversion occurring at one of the X-chromosome [inv (x) (p22q13)] was found in the proband and his nephew (the fetus), both patients, and his mother and his second aunt (the pregnant woman), both carriers. Autopsy of the fetus showed epidermis dysplasia and deficiency of hair follicle and sebaceous gland. Immunohistochemistry showed that epithelial membrane antigen and cytokeratin were negatively expressed in the fetal skin tissues. Pedigree analysis and genetic counseling for the family members of EDA patients and prenatal and postpartum examination for the fetus help diagnose EDA.

Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients.

PubMed

Fauser, Susanne; Huppertz, Hans-Juergen; Bast, Thomas; Strobl, Karl; Pantazis, Georgios; Altenmueller, Dirk-Matthias; Feil, Bertram; Rona, Sabine; Kurth, Christoph; Rating, Dietz; Korinthenberg, Rudolf; Steinhoff, Bernhard J; Volk, Benedikt; Schulze-Bonhage, Andreas

2006-07-01

Focal cortical dysplasias (FCDs) are increasingly diagnosed as a cause of symptomatic focal epilepsy in paediatric and adult patients. However, little is known about the clinical characteristics of epilepsy in these patients. In order to elucidate the clinical characteristics of their epilepsy, 120 pharmacoresistant patients including children and adults with histologically proven FCD were studied retrospectively. Age at seizure onset was analysed in the total group and compared between subgroups with different localization and different histological subtypes of FCD. The role of febrile seizures with respect to dual pathology was investigated. Seizure semiology was analysed focusing on initial seizure type and change of seizure semiology during the course of disease. Finally, transient responsiveness to antiepileptic drug therapy was studied. In the majority of patients, epilepsy began in the first 5 years of life. However, onset of epilepsy could also occur in the second or third decade until the age of 60. Age at epilepsy onset was not significantly different between temporal, extratemporal and multilobar localization of FCD. Patients without cytoarchitectural abnormalities (mild malformations of cortical development, FCD 1a according to Palmini) had significantly later epilepsy onset (P= 0.001) compared with patients with cytoarchitectural abnormalities (FCD 1b, 2a and 2b according to Palmini). In patients with additional hippocampal sclerosis (dual pathology) febrile seizures were significantly more frequently reported (P = 0.02) than in patients without dual pathology. Moreover, patients with dual pathology and febrile seizures significantly more frequently presented with severe hippocampal sclerosis (Wyler Grade 3-4) as compared with patients with dual pathology in the absence of febrile seizures (P = 0.03). First observed seizures were mainly tonic or generalized tonic-clonic. A change of seizure semiology seemed to be age-dependent and occurred between the

Early-stage gastric cancers represented as dysplasia in a previous forceps biopsy: the importance of clinical management.

PubMed

Park, Jin Seok; Hong, Su Jin; Han, Jae Pil; Kang, Myung Soo; Kim, Hee Kyung; Kwak, Jeong Ja; Ko, Bong Min; Cho, Joo Young; Lee, Joon Seong; Lee, Moon Sung

2013-02-01

Because histological examination of gastric lesions by forceps biopsy is of limited accuracy, management on the basis of histological results is occasionally controversial. We examined the characteristics of early gastric cancers that presented as dysplasia resulting from a previous forceps biopsy. Between April 2007 and December 2010, 341 gastric adenocarcinoma lesions from 330 patients previously diagnosed histologically via endoscopic submucosal dissection were examined. We retrospectively assessed the characteristics of early gastric cancer according to their initial forceps biopsy results. In total, 183 EGCs were diagnosed as dysplasia (53.7%; 89 low-grade and 94 high-grade) and 158 (46.3%) as carcinoma by forceps biopsy before endoscopic submucosal dissection. Significant differences were noted with respect to histologic differentiation of carcinomas, Lauren histologic type, depth of invasion, lymphovascular invasion, and en bloc resection between the dysplastic group and carcinoma group, based on forceps biopsy results. A forceps biopsy result is not fully representative of the entire lesion and, thus, endoscopic submucosal dissection should be considered for lesions diagnosed as dysplasia via forceps biopsy in order to avoid the risk of missed carcinomas. Copyright © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Genetics Home Reference: spondyloepimetaphyseal dysplasia, Strudwick type

MedlinePlus

... STRUDWICK TYPE Sources for This Page Amirfeyz R, Taylor A, Smithson SF, Gargan MF. Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. J Pediatr Orthop B. 2006 Jan;15(1):41-4. Citation on ...

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.

Predictors of Progression to High-Grade Dysplasia or Adenocarcinoma in Barrett’s Esophagus

PubMed Central

Whitson, Matthew J.; Falk, Gary W.

2015-01-01

Article Synopsis The prevalence of esophageal adenocarcinoma is increasing dramatically. Barrett’s esophagus remains the most well established risk factor for the development of esophageal adenocarcinoma. There are multiple clinical, endoscopic, and pathologic factors that increase the risk of neoplastic progression to high-grade dysplasia or esophageal adenocarcinoma in Barrett’s esophagus. This article will review both risk and protective factors for neoplastic progression in patients with Barrett’s esophagus. PMID:26021196

Primary cellular meningeal defects cause neocortical dysplasia and dyslamination

PubMed Central

Hecht, Jonathan H.; Siegenthaler, Julie A.; Patterson, Katelin P.; Pleasure, Samuel J.

2010-01-01

Objective Cortical malformations are important causes of neurological morbidity, but in many cases their etiology is poorly understood. Mice with Foxc1 mutations have cellular defects in meningeal development. We use hypomorphic and null alleles of Foxc1 to study the effect of meningeal defects on neocortical organization. Methods Embryos with loss of Foxc1 activity were generated using the hypomorphic Foxc1hith allele and the null Foxc1lacZ allele. Immunohistologic analysis was used to assess cerebral basement membrane integrity, marginal zone heterotopia formation, neuronal overmigration, meningeal defects, and changes in basement membrane composition. Dysplasia severity was quantified using two measures. Results Cortical dysplasia resembling cobblestone cortex, with basement membrane breakdown and lamination defects, is seen in Foxc1 mutants. As Foxc1 activity was reduced, abnormalities in basement membrane integrity, heterotopia formation, neuronal overmigration, and meningeal development appeared earlier in gestation and were more severe. Surprisingly, the basement membrane appeared intact at early stages of development in the face of severe deficits in meningeal development. Prominent defects in basement membrane integrity appeared as development proceeded. Molecular analysis of basement membrane laminin subunits demonstrated that loss of the meninges led to changes in basement membrane composition. Interpretation Cortical dysplasia can be caused by cellular defects in the meninges. The meninges are not required for basement membrane establishment but are needed for remodeling as the brain expands. Specific changes in basement membrane composition may contribute to subsequent breakdown. Our study raises the possibility that primary meningeal defects may cortical dysplasia in some cases. PMID:20976766

CBCT findings of periapical cemento-osseous dysplasia: A case report

PubMed Central

Eskandarloo, Amir

2013-01-01

Periapical cemento-osseous dysplasia (PCOD) is a subtype of cemento-osseous dysplasia that usually occurs in middle-aged black women. This report described a case of a 45-year-old Iranian woman who was diagnosed with PCOD on the basis of cone beam computed tomographic (CBCT) findings. CBCT enabled detailed visualization of the bone changes. This report described the special radiographic characteristics of PCOD, including discontinuity of the lingual cortex on the CBCT sectional and three-dimensional images. PMID:24083217

Incremental yield of dysplasia detection in Barrett's esophagus using volumetric laser endomicroscopy with and without laser marking compared with a standardized random biopsy protocol.

PubMed

Alshelleh, Mohammad; Inamdar, Sumant; McKinley, Matthew; Stewart, Molly; Novak, Jeffrey S; Greenberg, Ronald E; Sultan, Keith; Devito, Bethany; Cheung, Mary; Cerulli, Maurice A; Miller, Larry S; Sejpal, Divyesh V; Vegesna, Anil K; Trindade, Arvind J

2018-02-02

Volumetric laser endomicroscopy (VLE) is a new wide-field advanced imaging technology for Barrett's esophagus (BE). No data exist on incremental yield of dysplasia detection. Our aim is to report the incremental yield of dysplasia detection in BE using VLE. This is a retrospective study from a prospectively maintained database from 2011 to 2017 comparing the dysplasia yield of 4 different surveillance strategies in an academic BE tertiary care referral center. The groups were (1) random biopsies (RB), (2) Seattle protocol random biopsies (SP), (3) VLE without laser marking (VLE), and (4) VLE with laser marking (VLEL). A total of 448 consecutive patients (79 RB, 95 SP, 168 VLE, and 106 VLEL) met the inclusion criteria. After adjusting for visible lesions, the total dysplasia yield was 5.7%, 19.6%, 24.8%, and 33.7%, respectively. When compared with just the SP group, the VLEL group had statistically higher rates of overall dysplasia yield (19.6% vs 33.7%, P = .03; odds ratio, 2.1, P = .03). Both the VLEL and VLE groups had statistically significant differences in neoplasia (high-grade dysplasia and intramucosal cancer) detection compared with the SP group (14% vs 1%, P = .001 and 11% vs 1%, P = .003). A surveillance strategy involving VLEL led to a statistically significant higher yield of dysplasia and neoplasia detection compared with a standard random biopsy protocol. These results support the use of VLEL for surveillance in BE in academic centers. Copyright © 2018 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.

Comparisons and Limitations of Current Definitions of Bronchopulmonary Dysplasia for the Prematurity and Respiratory Outcomes Program.

PubMed

Poindexter, Brenda B; Feng, Rui; Schmidt, Barbara; Aschner, Judy L; Ballard, Roberta A; Hamvas, Aaron; Reynolds, Anne Marie; Shaw, Pamela A; Jobe, Alan H

2015-12-01

Bronchopulmonary dysplasia is the most common morbidity of prematurity, but the validity and utility of commonly used definitions have been questioned. To compare three commonly used definitions of bronchopulmonary dysplasia in a contemporary prospective, multicenter observational cohort of extremely preterm infants. At 36 weeks postmenstrual age, the following definitions of bronchopulmonary dysplasia were applied to surviving infants with and without imputation: need for supplemental oxygen (Shennan definition), National Institutes of Health Workshop definition, and "physiologic" definition after a room-air challenge. Of 765 survivors assessed at 36 weeks, bronchopulmonary dysplasia was diagnosed in 40.8, 58.6, and 32.0% of infants, respectively, with the Shennan, workshop and physiologic definitions. The number of unclassified infants was lowest with the workshop definition (2.1%) and highest with the physiologic definition (16.1%). After assigning infants discharged home in room air before 36 weeks as no bronchopulmonary dysplasia, the modified Shennan definition compared favorably to the workshop definition, with 2.9% unclassified infants. Newer management strategies with nasal cannula flows up to 4 L/min or more and 0.21 FiO2 at 36 weeks obscured classification of bronchopulmonary dysplasia status in 12.4% of infants. Existing definitions of bronchopulmonary dysplasia differ with respect to ease of data collection and number of unclassifiable cases. Contemporary changes in management of infants, such as use of high-flow nasal cannula, limit application of existing definitions and may result in misclassification. A contemporary definition of bronchopulmonary dysplasia that correlates with respiratory morbidity in childhood is needed. Clinical trial registered with www.clinicaltrials.gov (NCT01435187).

Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome?

PubMed

Watts, P; Kumar, N; Ganesh, A; Sastry, P; Pilz, D; Levin, A V; Chitayat, D

2008-05-01

To report the association of severe chorioretinal dysplasia, hydranencephaly, microcephaly, and intracranial calcification in children with no evidence of intrauterine infections. Two unrelated female infants with visually inattentive behaviour, hydranencephaly, and intracranial calcification were referred for an ophthalmological opinion. The fundus examination and computerised tomograms (CT scans) of head were similar in both children. There was bilateral extensive chorioretinal dysplasia, intracranial calcifications, and hydranencephaly. Serology was negative for acquired intrauterine congenital infections. We report two cases that may represent a new syndrome or the more severe end of the spectrum of the pseudo-TORCH (toxoplasma, rubella, cytomegalovirus, and herpes simplex) syndrome. The association of chorioretinal dysplasia with the pseudo-TORCH syndrome has not been reported previously.

[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

2018-03-01

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 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

[Proximal femoral varus osteotomy in adults after developmental dysplasia of the hip: long-term results].

PubMed

Rozkydal, Z; Janíček, P; Otiepka, P

2010-01-01

The aim of this retrospective study was to assess the results of varus osteotomy of the proximal femur in adults with coxa valga after developmental dysplasia of the hip (DDH) and to evaluate the efficacy of this method. Thirty hips in 28 patients treated by proximal femoral varus osteotomy in the period from 1983 to 1990 were evaluated. The indication for surgery involved coxa valga (145°-168°) with grade I- III of osteoarthritis and mild acetabular dysplasia. The patient group comprised twenty six women and two men with an average age of 28 years (18 to 42) at the time of surgery. The mean follow-up was 22 years (19 to 26). The preoperative radiographic examination included an AP view of the pelvis, AP views of the hip in neutral and in frog-leg position and AP views of the hip in 30° of abduction and neutral rotation. Varus osteotomy was indicated when the best position of the hip joint was achieved in abduction. The procedure was performed according to M. Müller. Hip assessment was based on the grade of osteoarthritis, CCD angle, Wiberg angle and AHI index. The results were statistically evaluated using the life table analysis of clinical survivorship of osteotomy and the Kaplan- Meier curve. Clinical failure was defined as conversion of osteotomy to total hip replacement (THR). At the latest follow-up of 22 years on the average, 18 patients (19 hips) still had osteotomy and 10 patients (11 hips) had undergone conversion to THR. The life table analysis showed the cumulative proportion of osteotomy with a clinical survivorship of 0.97 at 5 years, 0.75 at 10 and 15 years, and 0.68 at 20 and 25 years after surgery. The cumulative rate of clinical survivorship of osteotomy, as shown by the Kaplan-Meier curve, was 0.89 at 10 years, 0.75 at 20 years and 0.67 at 25 years after surgery. Nineteen patients were satisfied with the osteotomy outcome. The median of Harris hip scores in the patients with osteotomy was 48 points before surgery and 78 points at the latest

Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.

PubMed

Geneviève, D; Le Merrer, M; Feingold, J; Munnich, A; Maroteaux, P; Cormier-Daire, V

2008-04-15

Metatropic dysplasia (MD-OMIM: 156530 and 250600) is a rare chondrodysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis, first described in 1893. Up until now, 81 other patients have been reported. The phenotypic variability of MD has led to a classification based on radiological anomalies dividing into three different types: a lethal autosomal recessive form, an autosomal recessive non-lethal form and a non-lethal autosomal dominant form with less severe radiographs manifestations and a better clinical outcome. Here, we report on clinical and radiological features of 19 novel MD patients. We describe new radiological features, including precocious calcification of hyoid and cricoid cartilage, irregular and squared-off calcaneal bones and severe hypoplasia of the anterior portion of first cervical vertebrae. In addition, the observation of an overlap between the autosomal recessive non-lethal form and the non-lethal autosomal dominant form, the rarity of sibship recurrences and the observation of vertical transmissions of MD in the literature argue in favor of an autosomal dominant mode of inheritance for all MD types. This hypothesis is reinforced by the use of the statistical single ascertainment method that rejects the hypothesis of an autosomal recessive mode of inheritance responsible for MD. Therefore, we propose that recurrence in sibs is due to gonadal mosaicism. Copyright 2008 Wiley-Liss, Inc.

Clinical Features and Endovascular Management of Iliac Artery Fibromuscular Dysplasia

PubMed Central

Ketha, Siva S.; Bjarnason, Haraldur; Oderich, Gustavo S.; Misra, Sanjay

2014-01-01

Purpose To identify the spectrum of clinical presentation of iliac artery fibromuscular dysplasia (FMD) and to evaluate the outcomes of endovascular management of iliac FMD for claudication. Methods and materials All patients in our institution with a diagnosis of FMD between January 1980 and December 2010 were identified. 14 patients were found to have FMD of the iliac arteries. Associated risk factors included hypertension (79%), hyperlipidemia (64%), smoking history (36%), coronary artery disease (21%), diabetes (0 %), and obesity (36%). Results Eight (57%) patients were incidentally found to have iliac FMD on imaging. 6 (43%) patients had life style limiting claudication involving one or both extremities. All 6 patients were reported as mild peripheral arterial disease (PAD) based on ankle brachial index (ABI) measurements (0.7 to 0.9). These six patients underwent 10 endovascular procedures for claudication including angioplasty (n=8) and self-expanding stent placement (n=2). Mean symptom free survival was 56.3 months. Conclusion Iliac FMD may be found incidentally or may present with disabling claudication that is amenable to endovascular treatment. PMID:24768236