JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 11 2008
ANDREA AVELLA M.D.
Introduction: To improve the endomyocardial biopsy (EMB) diagnostic sensitivity for arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), we hypothesized a biopsy sampling focused on selected right ventricle (RV) low-voltage areas identified by electroanatomic voltage mapping. Methods and Results: The study population (22 patients, 10 men; mean age 34 ± 10 years) included 11 patients with overt ARVC/D (group A) and 11 patients with suspected ARVC/D (group B), according to both arrhythmic profile and standardized noninvasive diagnostic criteria. In all 22 patients, an RV bipolar voltage mapping was performed with CARTOÔ system sampling multiple endocardial sites (262 ± 61), during sinus rhythm, with a 0.5,1.5 mV color range setting of voltage display. All 11 (100%) group A patients and 8 of the 11 (73%) group B patients (P = nonsignificant [NS]) presented RV low-voltage areas (<0.5 mV). In 8 group A patients and in all 8 group B patients with a pathological RV voltage map, an EMB focused on the low-voltage areas was performed. In 6 (75%) group A patients and in 7 (87%) group B patients (P = NS), voltage mapping-guided EMB was diagnostic for ARVC/D. In the remaining 3 patients, only nonspecific histological findings were observed. Conclusions: The results of our study (1) confirm the high diagnostic sensitivity of RV voltage mapping in patients with overt ARVC/D, (2) document a high prevalence of RV low-voltage areas even in patients with suspected ARVC/D, and (3) demonstrate that in patients with clinical evidence or suspicion for ARVC/D, presenting RV low-voltage areas, EMB guided by voltage mapping may provide ARVC/D diagnosis confirmation. [source]

NEUTROPHIL DYSPLASIA CHARACTERIZED BY THE ACQUIRED PELGER-HUET ANOMALY OCCURRING WITH THE COMBINATION OF MYCOPHENOLATE MOFETIL AND GANCICLOVIR POST RENAL TRANSPLANTATION: A REPORT OF 5 CASES

NEPHROLOGY, Issue 1 2002
Kay Td
[source]

Surveillance colonoscopy for colitic cancer in inflammatory bowel disease

DIGESTIVE ENDOSCOPY, Issue 4 2003
Keisuke Hata
Patients with inflammatory bowel disease are known to be at increased risk for the development of colorectal cancer, especially those with long-standing extensive ulcerative colitis. Although some recommend prophylactic total proctocolectomy for these high-risk patients, surveillance colonoscopy to detect ulcerative colitis-associated colorectal cancer is, instead, generally performed. Dysplasia has been considered to be a useful marker to detect colorectal cancer at surveillance colonoscopy. High-grade dysplasia is a definite indication for total proctocolectomy, while management of low-grade dysplasia is still controversial. Patients with Crohn's disease are also considered to be at higher risk for the development of colorectal cancer, although the risk may be lower than in extensive ulcerative colitis. Molecular biology-based surveillance and chemoprevention for ulcerative colitis-associated colorectal cancer are also reviewed. [source]

Helicobacter Pylori and Precancerous Gastric Lesions

DIGESTIVE ENDOSCOPY, Issue 3 2000
Pham Quang Cu
Background: To determine the relationship between Helicobacter pylori (H. pylori) infection and the precancerous gastric lesions: atrophic gastritis (AG) and intestinal metaplasia (IM) and dysplasia. Methods: A total of 347 dyspeptic patients, including 141 H. pylori -positive patients and 206 H. pylori -negative patients, were studied alongside age- and sex-matched controls. The patients underwent gastroscopy and endoscopic biopsy for detection of H. pylori, and histological examinations. Helicobacter pylori was detected by a urease test (CLO; Delta West; Bentley, Australia), by histology (H&E stain, Giemsa) and by serology (BioSig; BioMeditech, NJ, USA). Atrophic gastritis, IM and dysplasia were detected by histological examination (Giemsa, H&E stain). Results: There is a higher rate of atrophic gastritis in H. pylori -positive than in H. pylori -negative patients (46 vs 13.5%, odds ratio (OR) = 5.4; P < 0.01). Gastritis in H. pylori -positive patients also has a higher rate of activity than in H. pylori -negative patients. The rate of IM is higher in H. pylori -positive patients than in H. pylori -negative patients (35 vs 11%; OR = 4.3; P < 0.01). Metaplasia is more often diffuse in H. pylori -positive than in H. pylori -negative patients. Dysplasia is more common in H. pylori -positive than in H. pylori -negative patients (12 and 3.8%; OR = 3.3; P < 0.01). Conclusions: This study supports the suggestion of a relationship between H. pylori infection and precancerous gastric lesions. Wherever H. pylori is present, the precancerous lesions are more common and more severe. [source]

Renal Artery Fibromuscular Dysplasia Is a Cause of Refractory Hypertension in the Elderly

ECHOCARDIOGRAPHY, Issue 1 2009
Raed Aqel M.D.
Fibromuscular dysplasia (FMD) is predominantly a disease of younger women, but it can occur and cause refractory hypertension in the elderly. We present here classic angiographic and intravascular ultrasound images of FMD in a 70-year-old woman with refractory hypertension. Renal artery FMD should be included in the differential diagnosis of refractory hypertension even in older patients since recognizing and treating this condition will add favorably to the outcome of these patients. [source]

Intraoperative Ultrasound to Define Focal Cortical Dysplasia in Epilepsy Surgery

EPILEPSIA, Issue 1 2008
Dorothea Miller
Summary Focal cortical dyplasia (FCD) is a frequent cause of medication-resistant focal epilepsy. Patients with FCD may benefit from epilepsy surgery. However, it is difficult to intraoperatively define lesion boundaries. In this case report we present a novel tool to identify FCD intraoperatively. A patient with frontal lobe epilepsy underwent resection of a left frontomesial FCD. Image guidance was achieved by intraoperative ultrasound, which depicted the lesion with a higher resolution than preoperative MRI. Postoperatively the patient remained seizure free. Intraoperative ultrasound may be helpful in identifying and targeting subtle epileptogenic lesions, which are difficult to visualize. [source]

Introduction to Epilepsia Issue on Pediatrics and Dysplasia

EPILEPSIA, Issue 6 2006
Philip A. Schwartzkroin
No abstract is available for this article. [source]

Seizure Outcome after Temporal Lobectomy in Temporal Lobe Cortical Dysplasia

EPILEPSIA, Issue 11 2003
Teeradej Srikijvilaikul
Summary:,Purpose: To identify the temporal lobe cortical dysplasia (CD) histopathology classification subtype and determine the seizure outcome of patients who underwent temporal lobectomy with coincident CD. Methods: We reviewed the data of 28 patients with temporal lobe epilepsy who underwent surgery with pathologically verified CD at our institution from 1990 to 2000. The seizure outcome was assessed at a minimum of 1 year after surgery according to Engel's classification. Results: Of 28 patients who underwent surgery, nine (32.1%) had isolated CD, and 19 (67.9%) had CD and hippocampal sclerosis (CD&HS). Twenty-six (92.9%) patients had histopathology subtype Ia (architectural abnormalities). Twenty (71.4%) patients were seizure free (Engel class I). Favorable seizure outcome (Engel class I, II) was achieved in 26 (92.9%) patients. No difference in seizure outcome was noted between patients with CD and CD&HS. Conclusions: The most common histopathologic subtype in patients with temporal lobe CD is type Ia (architectural abnormalities). Temporal lobectomy in temporal lobe epilepsy patients with CD can achieve favorable seizure outcome. [source]

Neocortical Temporal FDG-PET Hypometabolism Correlates with Temporal Lobe Atrophy in Hippocampal Sclerosis Associated with Microscopic Cortical Dysplasia

EPILEPSIA, Issue 4 2003
Beate Diehl
Summary: ,Purpose: Medically intractable temporal lobe epilepsy (TLE) due to hippocampal sclerosis (HS), with or without cortical dysplasia (CD), is associated with atrophy of the hippocampal formation and regional fluorodeoxyglucose positron-emission tomography (FDG-PET) hypometabolism. The relation between areas of functional and structural abnormalities is not well understood. We investigate the relation between FDG-PET metabolism and temporal lobe (TL) and hippocampal atrophy in patients with histologically proven isolated HS and HS associated with CD. Methods: Twenty-three patients underwent en bloc resection of the mesial and anterolateral neocortical structures. Ten patients were diagnosed with isolated HS; 13 patients had associated microscopic CD. Temporal lobe volumes (TLVs) and hippocampal volumes were measured. Magnetic resonance imaging (MRI) and PET were co-registered, and regions of interest (ROIs) determined as gray matter of the mesial, lateral, and anterior temporal lobe. Results: All patients (HS with or without CD) had significant ipsilateral PET hypometabolism in all three regions studied (p < 0.0001). In patients with isolated HS, the most prominent hypometabolism was in the anterior and mesial temporal lobe, whereas in dual pathology, it was in the lateral temporal lobe. TLVs and hippocampal volumes were significantly smaller on the epileptogenic side (p < 0.05). The PET asymmetries ipsilateral/contralateral to the epileptogenic zone and TLV asymmetries correlated significantly for the anterior and lateral temporal lobes (p < 0.05) in the HS+CD group, but not in the isolated HS group. Mesial temporal hypometabolism was not significantly different between the two groups. Conclusions: Temporal neocortical microscopic CD with concurrent HS is associated with more prominent lateral temporal metabolic dysfunction compared with isolated HS in TL atrophy. Further studies are needed to confirm these findings and correlate the PET hypometabolic patterns with outcome data in patients operated on for HS with or without CD. [source]

Electroencephalographic Characterization of an Adult Rat Model of Radiation-Induced Cortical Dysplasia

EPILEPSIA, Issue 10 2001
Shinji Kondo
Summary: ,Purpose: Cortical dysplasia (CD) is a frequent cause of medically intractable focal epilepsy. The mechanisms of CD-induced epileptogenicity remain unknown. The difficulty in obtaining and testing human tissue warrants the identification and characterization of animal model(s) of CD that share most of the clinical, electroencephalographic (EEG), and histopathologic characteristics of human CD. In this study, we report on the in vivo EEG characterization of the radiation-induced model of CD. Methods: Timed-pregnant Sprague,Dawley rats were irradiated on E17 using a single dose of 145 cGy or left untreated. Their litters were identified and implanted with bifrontal epidural and hippocampal depth electrodes for prolonged continuous EEG recordings. After prolonged EEG monitoring, animals were killed and their brains sectioned and stained for histologic studies. Results: In utero,irradiated rats showed frequent spontaneous interictal epileptiform spikes and spontaneous seizures arising independently from the hippocampal or the frontal neocortical structures. No epileptiform or seizure activities were recorded from age-matched control rats. Histologic studies showed the presence of multiple cortical areas of neuronal clustering and disorganization. Moreover, pyramidal cell dispersion was seen in the CA1>CA3 areas of the hippocampal formations. Conclusions: Our results further characterize the in vivo EEG characteristics of the in utero radiation model of CD using long-term EEG monitoring. This model may be used to study the molecular and cellular changes in epileptogenic CD and to test the efficacy of newer antiepileptic medications. [source]

Neuroradiologic Findings in Focal Cortical Dysplasia: Histologic Correlation with Surgically Resected Specimens

EPILEPSIA, Issue 2001
Kazumi Matsuda
Summary: ,Purpose: We investigated the neuroradiologic characteristics of focal findings of surgically resected specimens obtained from 47 patients with focal cortical dysplasia (FCD). Methods: Forty cases were detected by magnetic resonance imaging (MRI), and two cases were detected only by single-photon emission computed tomography (SPECT), but five cases could not be detected before operation. Results: MRI revealed abnormal gyri and sulci in 34 patients (pachygyric in 18, polymicrogyric in 10, both in six), and blurring of the gray matter,white matter junction in 29 (72%) patients. Signal abnormalities were found in 36 (90%) patients, in the gray matter in 32, with white matter in 30, and at the gray matter,white matter junction in 13. Moreover, peculiar patterns of abnormal signals in the white matter were recognized, including remarkably abnormal subcortical signals of T2 hyperintensity and T1 hypointensity adjacent to the dysplastic cortex in 15 cases, high radiated T2 signals extending from the ependymal surface of the lateral ventricle to the overlying cortex in 11 cases, and widespread abnormal signals in the white matter with gray matter involvement in four cases. Histologically, these abnormal signals corresponded to various degrees of dyslamination and morphologic abnormalities of neurons and glial cells in the gray matter, and to dysmyelination, ectopic clustering of dysplastic neurons, glial proliferation, and necrotic change in the white matter. Regional cerebral blood flow SPECT showed interictal hypoperfusion in 29 (62%) of the 47 patients, interictal hyperperfusion in two, and ictal hyperperfusion in 28 of the 34 patients associated with FCD. [123I]iomazenil SPECT demonstrating the distribution of central benzodiazepine receptors showed low accumulations localized spatially corresponding to the epileptogenic foci associated with FCD in seven of eight patients. Conclusions: These results demonstrate that neuroimaging reflects various structural and functional changes closely related to epileptogenesis in FCD. [source]

Cortical Dysplasia: Electroclinical, Imaging, and Neuropathologic Study of 13 Patients

EPILEPSIA, Issue 9 2001
Laura Tassi
Summary: ,Purpose: The aim of this study was to correlate the electroclinical and radiologic data with the neuropathologic findings and surgical outcome in epileptic patients with epilepsy and Taylor's focal cortical dysplasia (TFCD) and to characterize further the abnormal intermediate filaments expression in the balloon cell present in the peculiar dysplasia. Methods: We retrospectively selected 13 TFCD patients who underwent surgery for intractable epilepsy with the aim of removing the magnetic resonance (MR)-detectable lesion and/or the epileptogenic zone defined by stereoelectroencephalographic recordings. The surgical specimens were analyzed by means of routine neuropathologic and immunocytochemical studies. Antisera against different intermediate filaments also were used in serial adjacent sections to evaluate their coexpression in balloon cells. Results: Histopathologic abnormalities typical of TFCD were found not only within the MR-visible lesions but also in most of the epileptogenic zones with no MR signal alterations. Furthermore, the MR-visible lesions contained a high proportion of cells with an abnormal expression of intermediate filament proteins. After a long follow-up, 10 of the patients are now seizure free. Conclusions: Our findings indicate that highly epileptogenic zones may correspond to tissue alterations not revealed by neuroimaging. Furthermore, the immunocytochemical data show that the dysplastic tissue detected by MR contained high concentrations of cells filled with abnormal intermediate filaments. The detected colocalization of neuronal and glial markers in balloon cells indicates a failure of cellular commitment during development. [source]

Nasopharyngeal carcinoma in situ (NPCIS),pathologic and clinical perspectives

HEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 11 2002
Martin Wai Pak FRCSEd(ORL)
Abstract Background Dysplasia or carcinoma in situ lesions (NPCIS) of the nasopharynx have rarely been reported. The prevalence, biologic behavior, and the transformation period of the pure preinvasive lesions have not been fully explained. Methods All cases of NPCIS were retrospectively reviewed during the period between 1990 and 2000. The clinical features of all cases were studied. The biopsy samples were examined using light microscopy and in situ hybridization (ISH) for EBV-encoded RNA (EBER). The sera taken before and after the transformation were analyzed for anti-viral capsid antigen (VCA) EBV titers and circulating cell-free EBV DNA concentration. Results Three cases of NPCIS were identified. Two of the three cases subsequently developed into invasive NPC after initial presentation. The interval of transformation varied from 40 to 48 months. In all three cases, the specimens showed abnormal findings on light microscopy and positive staining for EBER. Elevated anti-VCA titers were present in two of the preinvasive lesions. No cell-free EBV DNA was detected in the sera of these patients during the preinvasive phase of the disease. Conclusions Preinvasive NPC is a rare but distinct entity. Its transformation period can be as long as 4 to 5 years. Elevated anti-VCA titers, in the presence of abnormal cells on light microscopy, should alert the pathologist to perform ISH EBER studies to diagnose this rare condition. © 2002 Wiley Periodicals, Inc. [source]

The diagnosis of dysplasia and malignancy in Barrett's oesophagus

HISTOPATHOLOGY, Issue 2 2000
REVIEW
Barrett's metaplasia is associated with an increased risk for adenocarcinoma. Adenocarcinoma develops through a multistep process characterized by defects in genes and morphological abnormalities. The early morphological changes of the process are called ,dysplasia'. Dysplasia is defined as an unequivocal neoplastic (premalignant) transformation confined within the basement membrane. For most Western pathologists malignancy is defined as invasion and characterized by a breach through the basement membrane. Japanese pathologists rely on cytological atypia and complex branching of crypts. Cytological and architectural abnormalities allow identification of dysplasia on routinely stained sections. A distinction is made between low- and high-grade dysplasia. The differential diagnosis between low-grade dysplasia and reactive changes can be difficult. Therefore a second opinion is strongly recommended, not only for high-grade dysplasia but also for low-grade. Immunohistochemistry for p53 and flow cytometry for detection of aneuploidy can support the diagnosis. Identification of dysplasia and malignancy depends on the number of biopsy samples examined. The minimum number of biopsies required has not yet been determined and depends partly on the length of the metaplastic segment. It has been proposed to sample with four quadrant biopsies at 20-mm intervals. New endoscopic techniques can increase the diagnostic yield. Endoscopically visible lesions increase the risk of finding malignancy. The time sequence for the progression of dysplasia is not known but progression from low- to high-grade and cancer has been shown to occur over a period of years although it may not be inevitable. [source]

Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia,

HUMAN MUTATION, Issue 6 2010
Alex Staffler
Abstract Campomelic dysplasia is a malformation syndrome with multiple symptoms including characteristic shortness and bowing of the long bones (campomelia). CD, often lethal due to airway malformations, is caused by heterozygous mutations in SOX9, an SRY-related gene regulating testis and chondrocyte development including expression of many cartilage genes such as type II collagen. Male to female sex reversal occurs in the majority of affected individuals with an XY karyotype. A mild form without campomelia exists, in which sex-reversal may be also absent. We report here two novel SOX9 missense mutations in a male (c.495C>G; p.His165Gln) and a female (c.337A>G; p.Met113Val) within the DNA-binding domain leading to non-lethal acampomelic CD. Functional analyses of mutant proteins demonstrate residual DNA-binding and transactivation of SOX9-regulated genes. Combining our data and reports from the literature we postulate a genotype-phenotype correlation: SOX9 mutations allowing for residual function lead to a mild form of CD in which campomelia and sex reversal may be absent. © 2010 Wiley-Liss, Inc. [source]

Incidence and Prognosis of Colorectal Dysplasia in Inflammatory Bowel Disease: A Population-based Study from Olmsted County, Minnesota,

INFLAMMATORY BOWEL DISEASES, Issue 8 2006
Tine Jess MD
Abstract Background and Aims: The risk, fate, and ideal management of colorectal dysplasia in inflammatory bowel disease (IBD) remain debated. We estimated the incidence, long-term outcome, and risk factors for progression of colorectal dysplasia (adenomas [adenoma-associated lesions or masses (ALMs)], flat dysplasia, and dysplasia-associated lesions or masses [DALMs]) in a population-based IBD cohort from Olmsted County, Minnesota. Materials and Methods: The Rochester Epidemiology Project was used to identify cohort patients with colorectal dysplasia. Medical records were reviewed for demographic and clinical characteristics. Histology slides were reviewed by a pathologist blinded to previous pathology reports. The cumulative incidence of dysplasia was estimated, and the association between patient characteristics and recurrence/progression of dysplasia was assessed using proportional hazards regression. Results: Twenty-nine (4%) IBD patients developed flat dysplasia (n = 8), DALMs (n = 1), ALMs in areas of IBD (n = 18), or ALMs outside areas of IBD (n = 2). Among 6 patients with flat low-grade dysplasia (fLGD) who did not undergo colectomy, none progressed during a median of 17.8 (range 6,21) years of observation with a median of 3 (range 0,12) surveillance colonoscopies. Four (22%) patients with ALMs in areas of IBD who did not undergo surgery developed LGD or DALMs. Primary sclerosing cholangitis and dysplasia located proximal to the splenic flexure were significantly associated with risk for recurrence/progression of dysplasia. Conclusions: This population-based cohort study from Olmsted County, Minnesota did not confirm an increased risk of cancer related to fLGD, whereas 22% of patients with ALMs in areas of IBD developed fLGD or DALMs. [source]

Gs, Mutations in Fibrous Dysplasia and McCune-Albright Syndrome,

JOURNAL OF BONE AND MINERAL RESEARCH, Issue S2 2006
Lee S Weinstein
Abstract Fibrous dysplasia (FD) is a focal bone lesion composed of immature mesenchymal osteoblastic precursor cells. Some FD patients also have hyperpigmented skin lesions (café-au-lait spots), gonadotropin-independent sexual precocity, and/or other endocrine and nonendocrine manifestations (McCune-Albright syndrome [MAS]). MAS results from somatic mutations occurring during early development, resulting in a widespread mosaic of normal and mutant-bearing cells, which predicts that the clinical presentation of each patient is determined by the extent and distribution of abnormal cells. These mutations encode constitutively active forms of Gs,, the ubiquitously expressed G protein ,-subunit that couples hormone receptors to intracellular cAMP generation. These mutations lead to substitution of amino acid residues that are critical for the intrinsic GTPase activity that is normally required to deactivate the G protein. This leads to prolonged activation of Gs, and its downstream effectors even with minimal receptor activation. This explains why MAS patients have stimulation of multiple peripheral endocrine glands in the absence of circulating stimulatory pituitary hormones and increased skin pigment, which is normally induced by melanocyte-stimulating hormone through Gs,/cAMP. Similar mutations are also present in 40% of pituitary tumors in acromegaly patients and less commonly in other endocrine tumors. FD results from increased cAMP in bone marrow stromal cells, leading to increased proliferation and abnormal differentiation. Parental origin of the mutated allele may also affect the clinical presentation, because Gs, is imprinted and expressed only from the maternal allele in some tissues (e.g., pituitary somatotrophs). [source]

Fibrous Dysplasia as a Stem Cell Disease,

JOURNAL OF BONE AND MINERAL RESEARCH, Issue S2 2006
Mara Riminucci
Abstract At a time when significant attention is devoted worldwide to stem cells as a potential tool for curing incurable diseases, fibrous dysplasia of bone (FD) provides a paradigm for stem cell diseases. Consideration of the time and mechanism of the causative mutations and of nature of the pluripotent cells that mutate in early embryonic development indicates that, as a disease of the entire organism, FD can be seen as a disease of pluripotent embryonic cells. As a disease of bone as an organ, in turn, FD can be seen as a disease of postnatal skeletal stem cells, which give rise to dysfunctional osteoblasts. Recognizing FD as a stem cell disease provides a novel conceptual angle and a way to generate appropriate models of the disease, which will continue to provide further insight into its natural history and pathogenesis. In addition, skeletal stem cells may represent a tool for innovative treatments. These can be conceived as directed to alter the in vivo behavior of mutated stem cells, to replace mutated cells through local transplantation, or to correct the genetic defect in the stem cells themselves. In vitro and in vivo models are currently being generated that will permit exploration of these avenues in depth. [source]

Gnathodiaphyseal Dysplasia: A Syndrome of Fibro-Osseous Lesions of Jawbones, Bone Fragility, and Long Bone Bowing

JOURNAL OF BONE AND MINERAL RESEARCH, Issue 9 2001
Mara Riminucci
Abstract We report an unusual generalized skeletal syndrome characterized by fibro-osseous lesions of the jawbones with a prominent psammomatoid body component, bone fragility, and bowing/sclerosis of tubular bones. The case fits with the emerging profile of a distinct syndrome with similarities to previously reported cases, some with an autosomal dominant inheritance and others sporadic. We suggest that the syndrome be named gnathodiaphyseal dysplasia. The patient had been diagnosed previously with polyostotic fibrous dysplasia (PFD) elsewhere, but further clinical evaluation, histopathological study, and mutation analysis excluded this diagnosis. In addition to providing a novel observation of an as yet poorly characterized syndrome, the case illustrates the need for stringent diagnostic criteria for FD. The jaw lesions showed fibro-osseous features with the histopathological characteristics of cemento-ossifying fibroma, psammomatoid variant. This case emphasizes that the boundaries between genuine GNAS1 mutation-positive FD and other fibro-osseous lesions occurring in the jawbones should be kept sharply defined, contrary to a prevailing tendency in the literature. A detailed pathological study revealed previously unreported features of cemento-ossifying fibroma, including the participation of myofibroblasts and the occurrence of psammomatoid bodies and aberrant mineralization, within the walls of blood vessels. Transplantation of stromal cells grown from the lesion into immunocompromised mice resulted in a close mimicry of the native lesion, including the sporadic formation of psammomatoid bodies, suggesting an intrinsic abnormality of bone-forming cells. [source]

Prospective Study of Cardiac Sarcoid Mimicking Arrhythmogenic Right Ventricular Dysplasia

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 5 2009
SMIT C. VASAIWALA M.D.
Introduction: Case studies indicate that cardiac sarcoid may mimic the clinical presentation of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C); however, the incidence and clinical predictors to diagnose cardiac sarcoid in patients who meet International Task Force criteria for ARVD/C are unknown. Methods and Results: Patients referred for evaluation of left bundle branch block (LBBB)-type ventricular arrhythmia and suspected ARVD/C were prospectively evaluated by a standardized protocol including right ventricle (RV) cineangiography-guided myocardial biopsy. Sixteen patients had definite ARVD/C and four had probable ARVD/C. Three patients were found to have noncaseating granulomas on biopsy consistent with sarcoid. Age, systemic symptoms, findings on chest X-ray or magnetic resonance imaging (MRI), type of ventricular arrhythmia, RV function, ECG abnormalities, and the presence or duration of late potentials did not discriminate between sarcoid and ARVD/C. Left ventricular dysfunction (ejection fraction <50%) was present in 3/3 patients with cardiac sarcoid, but only 2/17 remaining patients with definite or probable ARVD/C (P = 0.01). Conclusions: In this prospective study of consecutive patients with suspected ARVD/C evaluated by a standard protocol including biopsy, the incidence of cardiac sarcoid was surprisingly high (15%). Clinical features, with the exception of left ventricular dysfunction and histological findings, did not discriminate between the two entities. [source]

Pacing in Right Ventricular Dysplasia after Disconnection Surgery

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 2 2000
CHUEN TANG M.B.B.S.
Pacing in Right Ventricular Dysplasia. This report describes a 33-year-old patient with arrhythmogenic right ventricular (RV) dysplasia who had a dual chamber pacemaker implanted at age 23 years for drug-induced bradycardia. Pacing was continued after right ventricular free-wall disconnection (RVFVVD) at age 24 years. Her pacemaker was not replaced after battery depletion 7 years later. She presented the following year in severe right-sided heart failure. Her old pacemaker generator was replaced. This was followed by rapid resolution of her clinical failure and return to a full, active, physical lifestyle. This observation suggests the potential benefit of dual chamber pacing in patients with RV dysplasia after RVFWD. [source]

Keratinocyte Dysplasia in Hematopoietic Stem Cell Transplant Recipients in the Day 28 to 84 Post Transplant Period.

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2005
Ning Li MD
Severe keratinocyte dysplasia (SKD) has been reported in the early post-transplant period of hematopoietic stem cell transplant (HCST) patients, with a frequency as high as 47.4%. In the period less than 3 weeks post-transplant it was associated with cyclophosphamide conditioning. The purpose of our study was to determine the prevalence of SKD in a later post-transplant period, from 28 days to 84 days, and study the possible causes. The 2003 slide file (227 slides) of Seattle Cancer Care Alliance was examined for skin biopsies from patients who had undergone HCST. Twenty-two cases (9.7%) showed SKD. A control group of 22 biopsies matched for days post-transplant and age were selected from the remaining 205 biopsies. SKD was associated with a busulfan conditioning regimen, 72.7% in the SKD group and 36.3% in the control group (p = 0.016). SKD was not associated with cyclophosphamide (p = 0.174), fludarabin (p = 0.263) or total body irradiation (p = 0.50). Although active GVHD (grade 2 or 3) was more commonly seen in SKD group (45.5%) than the control group (22.2%), it did not show significant difference (p = 0.052). Our study showed that SKD developed in 9.7% of the skin biopsies from days 28 to 84 post-transplant, and was associated with busulfan conditioning regimen. [source]

Fine-needle aspiration cytology to distinguish dysplasia from hepatocellular carcinoma with different grades

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 7pt2 2008
Chen-Chun Lin
Abstract Background:, Distinguishing dysplasia from hepatocellular carcinoma (HCC) by fine-needle aspiration (FNA) cytology is difficult. The aim of this study was to diagnose HCC and the distinction of liver cell dysplasia from HCC with different grades by interpreting and scoring the cyto-morphological features. Methods:, Eighty-three cirrhotic patients undertook a sonography-guided FNA and subsequent needle biopsy for the tumor. HCC was confirmed in 68 cases and cirrhosis with dysplasia in 15 cases by pathology and follow-up for longer than 2 years. Eighteen cytological features were scored as degree of one, two or three according to their presence or prominence. Results:, Two cases of well-differentiated HCC were diagnosed as negative for HCC initially. The sensitivity, specificity, false positive, false negative and accuracy were 97%, 100%, 0%, 3% and 97.6% for FNA cytology in the diagnosis of HCC, respectively. The score of dysplasia was 20.8 ± 1.3 (mean ± SD) and lower than 26.2 ± 3.4 in Edmondson's grade I HCC (P < 0.01), 28.9 ± 2.9 in grade II HCC (P < 0.01), and 34.9 ± 4.3 in grade III/IV HCC (P < 0.01). The score was also significantly lower in grade II HCC than in grade III/IV HCC (P < 0.01). Conclusions:, FNA yielded a high accuracy in the distinction of dysplasia from HCC with different grades. There is a good correlation in cyto-morphological scores of liver cell dysplasia and HCC with different grades. Dysplasia displayed the lowest score and the score increased in order from dysplasia to grade III/IV HCC. [source]

Dysplasia and carcinoma development in a repeated dextran sulfate sodium-induced colitis model

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 10 2002
Isao Okayasu
Abstract Background: As an important mechanism underlying the increased risk of colorectal carcinoma development in patients with long-standing ulcerative colitis, promotion as a result of the regenerative process has been proposed. In the present study, a dysplasia-carcinoma sequence in a novel repeated colitis model in mice is documented. Methods: Repeated colitis was induced by nine administration cycles of 3% dextran sulfate sodium (DSS; molecular weight, 54 000): each administration cycle comprised 3% DSS for 7 days followed by distilled water for the subsequent 14 days, to give conditions similar to the clinically observed active and remission phases in humans. Results: Multiple colorectal tumors (nine low- and four high-grade dysplasias and two carcinomas) developed in 25 mice. These neoplastic lesions consisted of tubular structures, presenting as various types of elevated, flat and depressed tumor, similar to those in ulcerative colitis patients. A time-course study with assessment of the severity of colitis and in vivo bromodeoxyuridine uptake during a single 3% DSS administration cycle revealed a high level of regenerative activity in the colitis-affected mucosal epithelia. Conclusion: Thus, with the present repeated colitis model, regeneration and neoplastic lesions were apparent, the biological features of which provide evidence of a colorectal dysplasia,invasive carcinoma sequence in ulcerative colitis. [source]

Focal Cortical Dysplasia: Improving Diagnosis and Localization With Magnetic Resonance Imaging Multiplanar and Curvilinear Reconstruction

JOURNAL OF NEUROIMAGING, Issue 3 2002
Maria Augusta Montenegro MD
ABSTRACT Objective. To establish the contribution of multiplanar reconstruction (MPR) and curvilinear reformatting (CR) to the MRI investigation of focal cortical dysplasia (FCD). Methods. From a group of patients with intractable frontal lobe epilepsy, we selected patients with neuroimaging diagnosis of FCD. The diagnosis of FCD was based on the neuroimaging findings after a three step evaluation, always in the same order: (a) plain MRI films, (b) MPR, and (c) CR. After the selection of patients, the process of reviewing all the images in the three stages described above was performed by one of us, who did not take part on the selection of patients nor on the initial evaluation, and who was blind to the clinical and EEG findings of the patients. For data analysis, we first assessed the contribution of the additional findings of MPR analysis compared to the results of the evaluation using only plain MRI films, as is usually done in routine practice. Second, we assessed the contribution of CR to the findings of plain MRI films plus MPR. After completing the multistep evaluation, we all went back to review the plain MRI films with knowledge of lesion topography, in order to identify possible subtle features associated with FCD. Results. Seventeen patients met the inclusion criteria. Twelve had imaging diagnosis of FCD and were included in the second step of this project. Plain films of high resolution MRI showed the lesion in 6 (50%) of the 12 patients. By adding MPR to the plain MRI films, we identified lesions in all 12 patients. Furthermore, we found that MPR provided a better lesion localization and ascertainment of its relationship to other cerebral structures in 5 of 6 (83%) patients who had a lesion identified on plain films. By adding CR to the plain MRI films plus MPR analysis, we observed that (a) CR also allowed the identification of the dysplastic lesion in all patients, (b) CR improved lesion localization in one patient, and (c) CR provided a better visualization of the lesion extent in 4 patients (33%), showed a larger lesion in 3, and demonstrated that part of the area suspected as abnormal was more likely volume averaging in 2. Conclusion. MPR and CR analysis add to the neuroimaging evaluation of FCD by improving the lesion diagnosis and localization. CR helps to establish the extent of the lesion more precisely, allowing the visualization of some areas not shown on high resolution MRI and MPR. These techniques are complementary and do not replace the conventional wisdom of MRI analysis. [source]

AgNOR count as objective marker for dysplastic features in oral leukoplakia

JOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 9 2002
Amit Chattopadhyay
Abstract Background:,, Dysplasia is an important feature of leukoplakia. Because agreement among oral pathologists is poor regarding lesional diagnosis, silver stainable nucleolar organizer regions (AgNORs) as replicatory markers may have a place in objectively characterizing dysplasia in tissue specimens. Methods:,, We studied 41 normal oral epithelia, 51 oral leukoplakia (26 dysplastic, 25 non-dysplastic), and 51 cases of squamous cell carcinoma specimens for their mean AgNOR counts. Results:,, Mean AgNOR counts increased gradually from normal epithelium to non-dysplastic to dysplastic leukoplakia to squamous cell carcinoma. Using ROC analysis, we determined a mean AgNOR count cut-point (2.37) that can be used to distinguish between dysplastic and non-dysplastic leukoplakia. The test had a sensitivity of 75% and specificity of 83% with area under the curve being 88%. Conclusions:, Mean AgNOR count could be a valuable criterion for defining objective parameters for diagnosis/determination of dysplasia distinguishing between dysplastic and non-dysplastic leukoplakia. [source]

Comparison of HPV infection, p53 mutation and allelic losses in post-transplant and non-posttransplant oral squamous cell carcinomas

JOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 3 2002
L. Zhang
Abstract Background:, Oral squamous cell carcinoma (SCC) is increasingly found in transplant recipients, although little is known of the natural history of the disease or the mechanism underlying this increase. Methods:, In this article we describe the history of development of 5 oral post-transplant SCCs (PSCCs) and compare their genetic profiles to 34 non-posttransplant SCCs (NPSCCs). Results:, Of the five patients with PSCCs, 3 had bone marrow transplants and two, kidney. All three PSCCs from bone marrow recipients were preceded locally by graft-vs.-host disease (GVHD). Two of the GVHD were biopsied and demonstrated dysplasia. Similar frequencies of loss of heterozygosity (LOH) occurred in PSCCs and NPSCCs at 3p, 9p, 17p and 8p, with lower frequencies in PSCCs at 4q (39% vs. 0%), 11q (53% vs. 20%) and 13q (45% vs. 20%), although the latter were not significantly different. Only 1 PSCC had a p53 mutation, compared to historical values of 40,60% for NPSCC. Interestingly, human papillomavirus (HPV) DNA was detected in 3 (60%) PSCCs, in comparison to only 4 (12%) of the 34 NPSCCs (P = 0.0346). Conclusions:, Dysplasia in oral GVHD may be a strong indicator of cancer risk and should not be regarded as reactive changes to lichenoid mucosites. The low level of p53 mutation and increased HPV infection support the involvement of HPV in the development of PSCC, while the similarity in LOH patterns suggests that other aspects of carcinogenesis may be comparable in these two types of SCCs. [source]

Mesalazine downregulates c-Myc in human colon cancer cells.

ALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 12 2007
A key to its chemopreventive action?
Summary Background, Dysplasia and malignant transformation of colonocytes in ulcerative colitis are associated with overexpression of c-Myc and genes regulating cell survival. 5-Aminosalicylates such as mesalazine may reduce the development of colorectal cancer in ulcerative colitis, but the mechanisms of its chemopreventive action are not clear. Aims, To examine whether mesalazine affects the expression of c-Myc in human colon cancer cell lines. Methods, Human colon cancer cells were treated with vehicle or mesalazine (4 mm or 40 mm). We examined: (i) mRNA expression by gene array, (ii) protein expression by Western blotting and immunohistochemistry and (iii) apoptosis by Annexin V labelling. Results, Mesalazine significantly reduced expression of c-Myc mRNA and protein. Conclusions, Mesalazine downregulates gene and protein expression of c-Myc. The apoptotic and growth inhibitory effects of mesalazine are dose-dependent. Expression of c-Myc is significantly reduced by mesalazine 40 mm. [source]

Focal Preauricular Dermal Dysplasia: Report of Two Cases and a Review of Literature

PEDIATRIC DERMATOLOGY, Issue 3 2008
Michael S. Krathen M.D.
Focal preauricular dermal dysplasia is a form of aplasia cutis congenita in which atrophic skin lesions occur in a stereotypical bilateral distribution in the preauricular region. Although focal preauricular dermal dysplasia and membranous cutis aplasia of the scalp share clinical similarities, focal preauricular dermal dysplasia represents a form of aplasia cutis congenita that is not typically associated with extracutaneous anomalies. [source]

A Child with Hypohidrotic Ectodermal Dysplasia with Features of a Collodion Membrane

PEDIATRIC DERMATOLOGY, Issue 3 2006
Chad Thomas M.D.
Seventy percent of infants born with hypohidrotic (anhidrotic) ectodermal dysplasia are noted by their parents to have significant scaling and peeling. Although dry skin is a frequently reported sign in children with hypohidrotic ectodermal dysplasia, only one French study has reported a true collodion membrane at birth. We suspect that scaling with features of collodion membrane is more common in infants than is reflected in the literature, and we describe another such infant, later diagnosed with hypohidrotic ectodermal dysplasia. [source]