Dysplasia Type Research Articles

Duplication of 17p13.3 associated with an unclassified type of metaphyseal dysplasia

Duplication of 17p13.3 associated with an unclassified type of metaphyseal dysplasia

PTU-005 Risk Factors for Recurrence Following Endoscopic Resection of Large Colorectal Polyps in a Western Population

Introduction Although consistent risk factors for recurrence after resection of colorectal polyps have been identified in eastern series, there are few data on risk factors in western practice which may have different patient populations, experience, referral patterns and employ different techniques. Our unit is one of only a few specialist interventional endoscopy units in the UK. As a result, many referred patients have very large polyps, deeply scarred lesions from previous attempts at resection and several had been deemed too frail to undergo treatment. We aimed to determine the risk factors for recurrence after endoscopic resection of large colorectal polyps in this population. Methods We analysed a series of endoscopic resections of large colorectal polyps. Several techniques were employed including EMR, ESD and hybrid techniques involving combinations of EMR, ESD, TEMS and transanal resection for particularly challenging polyps. Visible vessels were routinely coagulated. After resection, the area was scrutinised with magnification chromoendoscopy to check for residual polyp which was resected or ablated. Surveillance endoscopy was performed at 3 and 12 months. Results 363 polyps with a mean size of 56 mm were resected in 326 patients who had a mean age of 71 years: 309 by EMR, 38 by ESD and 16 by hybrid procedures. Mean follow up was 12.2 months. 38% of polyps were deeply scarred. Recurrence occurred in 9.7% of patients, 17% of which were diminutive. 66% of recurrences were apparent on the first surveillance endoscopy. Size > 30 mm, piecemeal resection, deeply scarred lesions and the use of argon plasma coagulation were associated with recurrence on univariate analysis. However, logistic regression revealed only piecemeal resection was independently associated with recurrence (OR 5.1, p = 0.03). Intraprocedural bleeding, old age, high grade dysplasia, rectal location and histological type were not significantly associated with recurrence. Furthermore, there were no significant differences in recurrence between lesions resected by ESD or EMR, or between lesions resected with traditional techniques and those using a hybrid of various endoscopic and minimally invasive surgical techniques. Conclusion In contrast to other series, we found only piecemeal resection to be associated with recurrence. We feel that the routine use of techniques such as post-resection assessment using magnification chromoendoscopy to detect residual polyp and routine coagulation of visible vessels helps to eliminate some of the risk factors for recurrence. These techniques may also account for the success of hybrid procedures to resect large polyps in difficult locations with similar recurrence rates, which are an invaluable option in some challenging cases. Disclosure of Interest None Declared

Usefulness of a fluorescence visualization system for the detection of oral precancerous and early cancerous lesions.

Early detection of precancerous and early cancerous lesions could greatly reduce both the mortality and morbidity of oral cancer. The objective of this study was to analyze a fluorescence visualization(FV) system for the detection of precancerous and early cancerous lesions in rat tongue carcinogenesis and human oral cancerous lesions using for the first time a 4NQO rat model and human tissue. Based on the results from the rat tongue carcinogenesis model, under direct FV, the normal oral mucosa emitted various shades of pale green autofluorescence. In the precancerous and early cancerous cases, the lesion appeared as an irregular dark area. Histological examination of the lesions showed that the VELscope system had a sensitivity of 95% and specificity of 100% in discriminating normal mucosa from dysplasia/carcinoma insitu(CIS) or invasive carcinoma. The proliferating cell nuclear antigen(PCNA) protein level was gradually increased with progression of carcinogenic transformation. Furthermore, the results of PCNA and FV loss (FVL) were correlated. Next, results from 17 patients were also presented. Histological examination of the lesions showed that the VELscope system had a sensitivity of 95% and specificity of 100% in discriminating normal mucosa from severe dysplasia/CIS or invasive carcinoma. There were no normal epithelium cells in any of the FVL regions. Furthermore, to clarify the usefulness of FV compared to vital staining with iodine, we investigated the surgical margins of early oral squamous cell carcinoma(OSCC) tissues and compared the FVL and iodine unstained area(IU). The percentage of various types of dysplasia were almost equal when comparing the FVL and IU. These results suggest that this direct FV device has the potential for simple, cost-effective screening, detection and margin determination of oral precancerous and early cancerous lesions.

Reliability in the diagnosis of femoroacetabular impingement and dysplasia among hip surgeons: role of surgeon volume and experience.

To evaluate the degree of inter-rater agreement in identifying important radiographic features of femoroacetabular impingement (FAI) and hip dysplasia. In addition, the effect of supplementary investigations (CT and/or MRI) and clinical experience of the observer was determined. During the British Hip Society meeting 2013 participants were asked to remark on various radiological parameters of FAI and dysplasia, make a diagnosis, and recommended treatment. Free-Marginal Multirater Kappa analysis was performed to determine multi-rater agreement. The 'crossover sign', 'ischial spine sign' and 'lateral centre-edge angle' were found to have the highest inter-rater agreement. For the whole group only fair agreement was seen for the diagnosis of type of FAI (κ = 0.3) and dysplasia (κ = 0.3) after plain radiographs with supplementary investigations being only marginally helpful in improving the diagnosis of type of FAI (κ = 0.4). In contrast, high-volume hip preservation surgeons had a substantial improvement in diagnosis after supplementary investigations (type of FAI κ = 0.75, and dysplasia (κ = 0.65). Our study shows that agreement on diagnosis and treatment on the basis of plain radiographs is low amongst general hip surgeons. This improved with surgeon volume and experience, suggesting that protocols for diagnosis of these conditions need to be altered as assessment appears to be rather subjective.

Use of the Fassier-Duval telescopic rod for the management of congenital pseudarthrosis of the tibia

Introduction: Congenital pseudarthrosis of the tibia (CPT) is a rare condition that can pose a challenge in achieving union after surgical excision of the pseudarthrosis site. Multiple methods have been described for management of fractures complicating this abnormal bone, including intramedullary nails (IMNs) and external fixators. One of the IMN designs is the telescoping nail, which has many models including the Fassier-Duval (FD) rod. This system has been known for its use in the management of osteogenesis imperfecta and different types of dysplasia. In this series, we describe our experience with the use of this system in the management of CPT of the tibia in children. Methods: We conducted a retrospective chart review of four patients with FD rod insertions for CPT management. The mean age at surgery was 7.6 years (range: 1.5-17) and the minimum follow-up was 20 months (average: 52.3 months, range: 20-93 months). Two out of the four patients had a concomitant diagnosis of neurofibromatosis Type 1. Results: All four cases achieved union of the fracture at final follow-up. Complications encountered in these cases included a case of joint intrusion into the knee and a case of rod migration due to the failure of telescoping. Conclusion: The FD rod showed promising results in our cohort, but before this treatment modality can be recommended for the management of CPT, additional studies are required. Level of Evidence: IV

Нехирургические методы коррекции пролапса гениталий и нарушений мочеиспускания

To date, the problem of genital prolapse remains relevant in connection with a high frequency of occurrence. The article provides a brief obzorprichin, leading to the development of genital prolapse, in particular, describes the different types of connective tissue dysplasia. The most common genital prolapse combined with various types of urinary incontinence, which greatly impairs the quality of life of patients. Considering the pathogenesis of connective tissue dysplasia and disorders from urinating, the article shows the need for this category of patients comprehensive treatment, including hormone treatment, aimed at addressing estrogen deficiency, metabolic therapy, improves collagen synthesis and treatment aimed at removing overactive bladder symptoms.

Abstract A15: A human mini brain model of pediatric GBM

Abstract Glioblastoma (GBM) is the most devastating brain cancer with dismal prognosis both in adults and children and accounts for 16% of primary brain tumors. Despite aggressive therapeutic approaches, the majority of patients die within one year after diagnosis. Giving the limitation of current GBM mouse models, which do not reflect the biological properties of human tumors, in particular, tumor heterogeneity and pathogenesis, there is a growing need for new models. Current in vitro 3D models involve the use of hydrogel scaffolds and cell lines, which do not represent a viable developmental context where the tumor mass interacts with and invades the surrounding brain tissues. Starting with pluripotent human embryonic stem cells we reproduced a 3D tissue structure (so-called cerebral organoid) representing a developing human brain in vitro. We engineered these mini-brains to express oncogenic hits responsible for the derivation of tumors in pediatric GBM patients. Pediatric GBM is driven by a combination of epigenetic and genetic hits including the expression of a mutant histone H3 variant H3F3A (mutated at K27M or G34R) or a gain of function mutant isocitrate dehydrogenase IDH1R132H in combination with the loss of the histone remodeling factor ATRX and/or p53 tumor suppressor. We used a combination of these oncogenic hits to create a model of tumor engineering representing the first 3D human tissue model of GBM. This model combines the accurate multi-lineage differentiation and physiology of human brain with the easiness of manipulation of in vitro systems. H&E staining of the modified organoids shows remarkable dysplasia reminiscent of human primary glioma. Different genetic hits result in different type of dysplasia with IDH1R132H showing distinct morphology, suggestive of a broad range of applicability to model oncogenic-dependence in pediatric GBM. Cerebral organoids may also be used as a model to study tumor invasion starting with glioma stem-like cells (GSCs, which are believed to be the tumor-initiating cells in GBM). Indeed 923 GSCs (which are not invasive in mice brain) quickly and spontaneously (within few days) invade a co-cultured cerebral organoid. This study is the first to engineer a human CNS tumor in vitro. The model carries a tremendous potential to uncover the pathogenesis and initiation of brain cancer in a pediatric setting. Note: This abstract was not presented at the conference. Citation Format: Amin Ismail. A human mini brain model of pediatric GBM. [abstract]. In: Proceedings of the AACR Special Conference: Advances in Brain Cancer Research; May 27-30, 2015; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2015;75(23 Suppl):Abstract nr A15.

A new dimension to cephalometry: DW plane

Context: An accurate jaw relationship is critically important in orthodontic diagnosis and treatment planning. Various angular and linear measurements that have been proposed can be erroneous because they depend on various factors. Aim: The purpose of this study is to establish a new cephalometric measurement to assess the skeletal jaw discrepancy using Walker's point. Settings and Design: Lateral cephalogram of 100 Indian subjects with age range (8–11, 12–18, 19-27) were obtained. Inclusion criteria were – clinically Class I occlusion; normal overjet and overbite; orthoganthic profile; competent lips and cephalometrically normal ANB; Wits appraisal; Rakosi Jarabak's angle of inclination and mandibular plane angle. Materials and Methods: Four skeletal landmarks: Point A, Point B, Walker's point (W) and Wing point (w) were used to indicate the severity and type of skeletal dysplasia. Double W (DW) was constructed joining the Walker's and Wing point. Statistical Analysis Used: Analysis of variance test and Student's t -test was applied which showed significant results. Results: The difference between Walker's perpendicular to A Point and Walker's perpendicular to B Point gave the sagittal jaw discrepancy and was found to be 8.2 ± 0.9 mm. This measurement remained relatively constant throughout life. Conclusions: DW plane is an effective way to accurately establish the skeletal jaw relationship. It analyses the variance between linear measurements to determine the sagittal jaw relationship, linear measurements for vertical maxillary height and angular measurements to determine rotational jaw changes.

Abstract LB-138: Use of cerebral organoids to model pediatric gliomas with H3.3K27M and H3.3G34R

Abstract Glioblastoma (GBM) is the most devastating brain cancer with dismal prognosis both in adults and children and accounts for 16% of primary brain tumors. Despite aggressive therapeutic approaches, the majority of patients die within one year after diagnosis. Giving the limitation of current GBM mouse models, which do not reflect the biological properties of human tumors, in particular, tumor heterogeneity and pathogenesis, there is a growing need for new models. Current in vitro 3D models involve the use of hydrogel scaffolds and cell lines, which do not represent a viable developmental context where the tumor mass interacts with and invades the surrounding brain tissues. Starting with pluripotent human embryonic stem cells we reproduced a 3D tissue structure (so-called cerebral organoid) representing a developing human brain in vitro. We engineered these mini-brains to express oncogenic hits responsible for the derivation of tumors in pediatric GBM patients. Pediatric GBM is driven by a combination of epigenetic and genetic hits including the expression of a mutant histone H3 variant H3F3A (mutated at K27M or G34R) or a gain of function mutant isocitrate dehydrogenase IDH1R132H in combination with the loss of the histone remodeling factor ATRX and/or p53 tumor suppressor. We used a combination of these oncogenic hits to create a model of tumor engineering representing the first 3D human tissue model of GBM. This model combines the accurate multi-lineage differentiation and physiology of human brain with the easiness of manipulation of in vitro systems. H&E staining of the modified organoids shows remarkable dysplasia reminiscent of human primary glioma. Different genetic hits result in different type of dysplasia with IDH1R132H showing distinct morphology, suggestive of a broad range of applicability to model oncogenic-dependence in pediatric GBM. Cerebral organoids may also be used as a model to study tumor invasion starting with glioma stem-like cells (GSCs, which are believed to be the tumor-initiating cells in GBM). Indeed 923 GSCs (which are not invasive in mice brain) quickly and spontaneously (within few days) invade a co-cultured cerebral organoid. This study is the first to engineer a human CNS tumor in vitro. The model carries a tremendous potential to uncover the pathogenesis and initiation of brain cancer in pediatric settings. Citation Format: Amin Ismail. Use of cerebral organoids to model pediatric gliomas with H3.3K27M and H3.3G34R. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr LB-138. doi:10.1158/1538-7445.AM2015-LB-138

PTU-327 An evaluation of the effect of using an acetic acid protocol for the detection of dysplasia in barrett’s oesophagus in a district general hospital setting: Abstract PTU-327 Table 1

Introduction Studies have suggested that mucosal enhancement techniques, such as acetic acid (AA) spray may increase detection of advanced dysplasia during surveillance of Barrett’s oesophagus. A standardised AA protocol was adopted by 3 consultants and a nurse endoscopist (NE) from 2011, other endoscopists continued a conventional methodology for surveillance. We aimed to investigate the impact of the use of a standard protocol (HD image in WL, FICE assessment and use of 3% AA dye spray, with targeted biopsies and Seattle protocol biopsies) on the detection of all dysplasia and advanced dysplasia (HGD, or in-situ adenocarcinoma). Method We searched the HICCS Endoscopic Reporting System for all endoscopies where Barrett’s oesophagus was detected between October 2010 and October 2014 (n = 587). Only specific surveillance cases were included (index and specific recall cases excluded). Endoscopy reports were checked and histology results retrieved from the Welsh Clinical Portal system. Differences in dysplasia detection rates for the AA Protocol (AA) or ‘standard’ white light endoscopy (WLE) were tested using the Chi-squared test, with significance level set at p Results In the 4 year study period, 367 Barrett’s surveillance procedures were performed in 220 patients. The AA protocol was applied during 86 procedures, standard WLE in 269 procedures. The dysplasia rates are shown in the Table 1. There was a significant increase in the detection rate of all types of dysplasia (p Conclusion Introduction of a Standard AA Protocol in our Health Board was associated with higher detection of dysplasia compared with white light endoscopies performed during the same time interval. The training of a nurse endoscopist to provide this service has proved both feasible and effective. All surveillance patients now attend pre-booked lists where AA protocol is used. Disclosure of interest None Declared.

OP57 – 2589: Temporal lobe epilepsy in children: Beyond hippocampal sclerosis

Objective Hippocampal Sclerosis (HS) is widely recognized as a significant underlying cause of drug-resistant temporal lobe epilepsy (TLE) in adults. In contrast, HS is a rare finding in paediatric surgical series and data on this patient group are scarce. Methods We studied 34 children and adolescents with drug-resistant TLE and MTS who had epilepsy surgery at our centre with regard to electroclinical characteristics, MRI features and histopathology. Special focus was set on 15 children in whom histopathology was consistent with Focal Cortical Dysplasia (FCD) Type IIIa. Results Clinical characteristics associated with this highly selective subset of patients were: the presence of febrile seizures during infancy, a shorter duration of active epilepsy, a lower age at epilepsy surgery, extended EEG changes as well as excellent outcomes after anterior temporo-polar resection. However, we were unable to detect any significant association with either specific features on neuroimaging or neuropathological subtyping of the hippocampal sclerosis. Conclusion Data on HS in children with temporal lobe epilepsy is scarce and available data sets limitied. In the light of this perspective we present the first detailed description and comprehensive data analysis of children with the novel entity of FCD Type IIIa.

MRI in Hip Dysplasia: How to Shorten your MR-Protocol?

Objective: Congenital hip dysplasia is a common orthopedic disorder in childhood. MRI is widely used to image high grade dysplastic hips after reduction and fixation within a cast. The purpose of this study was to optimize and shorten the MR study to the requests of the pediatric orthopedic surgeons. Material and Methods: 13 consecutive MR studies of the hip were included in the study (1-5 months of age) between 2003 and 2011. Two pediatric orthopedic surgeons, who were blind for the diagnosis and therapy of the study patients, evaluated all magnetic resonance images (MRI) to determine the type of hip dysplasia. The usefulness of the MR-images was assessed using a 5-point scale. The type of hip dysplasia was assessed using the Tonnis criteria. In addition two radiologists in consensus evaluated the status of sedation and motion artifacts. Original MRI-reports were reviewed. Results: The most valuable sequences for the position of the femoral head and the evaluation of the anatomic details of the 13 MR-studies were: (a) In coronal planes: TIRM 3 mm (Score 4.6), T2 TSE 3mm (Score 4.1). (b) In axial planes: PD axial 3mm (Score 4.75), DESS reformats 1.5 mm (Score 4.5). (c) All sagittal sequences and non-fat saturated T1w images were not supportive for the orthopedic surgeons. Mild and major motion artifacts are observed in 33% of the patients with sedation and in 71% without sedation. Conclusion: After reduction of high-grade hip dysplasia and Spica-cast fixation, MRI examination offers valuable information for the orthopedic surgeon. The MRI study may fulfill the orthopedic surgeon’s needs using only one coronal and axial plane (e.g. T2w, PD or DESS) to image the dysplastic hip after treatment in a Spica-cast reliably. The shortening of the protocol may reduce the requirement of general anesthesia or sedation, however optimal images without motion artifacts play an important role in image interpretation.

Fibrocartilagenous dysplasia: A rare variant of fibrous dysplasia

Fibrous dysplasia (FD) is a benign disorder affecting one or more bones seen in all age groups and shows no geographical, racial and sex predilection. Fibrocartilaginous dysplasia (FCD) is a type of fibrous dysplasia where there is extensive cartilaginous differentiation. Our patient was a young girl with a 2 year history of pain in the right forearm and hip. Imaging studies showed multiple lucent lesions in the femur, humerus and radius. Microscopic examination of the curetted fragments from the lesion showed predominant cartilaginous components with focal fibro-osseous areas and areas of enchondral ossification. We present this case due to its rarity and the importance of distinguishing FCD from other benign and malignant cartilaginous tumors as it mimics these in clinical and histological features.

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

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

O39: Death by self-mutilation after cannabis consumption in a patient with cortical dysplasia

Aims The use of cannabis has been linked to an increased risk for acute psychosis, especially delirious episodes or schizophrenicspectrum disorders. Self-mutilation and dissociative disorders are rare (Bergua A et al. Ophthalmologica 2002;216:269–71). On the contrary, according to some authors, cannabis resin consumption would reduce these disorders (Passie T et al. Drug Test Anal. 2012;4:649-59). We report on original case of death by automutilation in a patient with cortical dysplasia following consumption of a highly concentrated resin cannabis. Case report Mr. B., 36 years-old, presents on the public roads a major state of agitation with self-mutilation and bilateral enucleation. Despite the intervention of emergency services, he impales on the fence and dies in an array of cataclysmic hemorrhage. According to statements of two witnesses who have spent the day with the victim, he would have presented a state of major agitation after spending few minutes in his apartment. They also indicate that the victim was a regular cannabis user and had presented unlabeled psychiatric disorders few years earlier. Four fragments of a brown substance resembling cannabis resin were seized at the home of the victim. Methods The autopsy was performed 12 hours later. Toxicological samples (cardiac blood, peripheral blood, pleural fluid, gastric content, vitreous humor and hair) were taken. Blood screening for major drugs and narcotics was done by LC-MS/MS. Dosages of amphetamines, opiates and cocaine were done by GC-MS, quantification of cannabinoids by GC-MS/MS. Identification and dosage of hallucinogens, new synthetic drugs, and synthetic cannabinoids were performed by LC-MS and LC-MS/MS. The composition of the four brown fragments seized at the home of the victim was determined by GC-MS and GC-FID. A pathological expertise was also performed. Results Toxicological analysis of the biological fluids and hair revealed the presence of different markers of cannabis consumption: THC 11-OH-THC THC-COOH Cannabinol Cannabidiol Cardiac blood (ng/mL) 25 3.2 13 0.6 0.3 Femoral blood (ng/mL) 13.5 4.1 14.7 1.3 0.7 Gastric content (ng/mL) 868 0.8 26 – 22 Hair (1,5 cm) (pg/mg) 137 1 ns* 9 94 These results indicate a recent cannabis consumption and the high gastric concentrations are in favor of an orally absorption. Hair analysis confirms regular consumption. A postmortem redistribution between the blood compartments can be observed. The analysis of fragments (F1 to F4) confirmed that it was cannabis resin with following composition (%): THC Cannabinol Cannabidiol F1- F3 31.1 5.5 1 F2 34.8 6 1.1 F4 35.4 6 1 The 4 pieces of cannabis resin highlights similar qualitative and quantitative composition with very high levels of active compounds. The pathological expertise reveals brain cortical dysplasia and lung lesions alveolitis type with pigmented macrophages related to regular toxic inhalation. Discussion and conclusion cortical dysplasia induces seizures and hallucinations. In this particular case, the absorption of a large dose of an highly concentrated cannabis extract may have caused hallucinations and dissociative disorders.

Autosomal recessive anhidrotic ectodermal dysplasia: a rare entity.

We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED) can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED), which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.

Significance of survivin immunoreactivity and morphometric analysis of HPV-induced cervical dysplasia

Genomic integration of high-risk human papilloma virus in the nucleus of cervical epithelial mucosal cells leads to epithelial dysplasia. The aim of this study was to determine the relevance of correlation between epithelial survivin expression and the degree of human papilloma virus (HPV)-induced cervical epithelial dysplasia, and to establish the significance of morphometric analysis of the nuclear area in the assessment of the degree of cervical dysplasia. This retrospective study included 99 women with primary, previously untreated lesions, and colposcopic findings indicating dysplasia, in whom a cytological test by Papanicolaou method was interpreted according to the Bethesda criteria as lowgrade squamous intraepithelial lesion (LSIL), high-grade squamous intraepithelial lesion (HSIL), and atypical squamous cells of undetermined significance (ASCUS). We performed human papilloma virus (HPV) typing by PCR for evidence of viruse types 16, 18, 31, 33. After biopsy of the cervical mucosa, we performed hematoxylin-eosin (H-E) and Periodic Acid Schiff (PAS) staining, and immunohistochemical and morphometric analysis of tissue samples. The control group consisted of 12 women without dysplasia and without a verified infection of cervical high-risk HPV. A high statistical correlation between the degree of dysplasia and expression of survivin was found in patients with different types of cervical dysplasia (p = 0.003). We observed a high statistical difference between the area of nuclei at different degrees of cervical dysplasias (p = 0.000). The high-grade cervical dysplasia had a more than 2-fold higher level of ranking in comparison to low-grade dysplasia, and a more than 10-fold higher ranking than the control group without cervical dysplasia.

Segmental odontomaxillary dysplasia

Segmental odontomaxillary dysplasia is a type of hemi-maxillofacial dysplasia. It is a sporadic, mesoectodermal dysplasia that presents early in life, possibly as early as in utero and exhibits male gender predominance (1.7:1.0). Its features include enlargement of the soft tissue and/or bone of one hemimaxilla that may produce mild facial asymmetry, sclerotic radiographic bone changes and dental developmental abnormalities. The dense bone, which often exhibits a radiographic vertical orientation of the trabecular bone pattern, is generally associated with delayed eruption of the teeth. Congenitally missing premolar teeth (either or both) is a common feature of this condition that is of significant diagnostic value. Ipsilateral cutaneous findings have been reported in 23% of cases. Immature woven bone forming irregular patterns are seen histologically. Herein, we present a case report on segmental odontomaxillary dysplasia in a 13-year-old boy.

The relationship between the pathological types and scalp electroencephalography features in patients with focal cortical dysplasia and intractable epilepsy

Objective To study the relationship between different pathological types of focal cortical dysplasia (FCD) and the morphology of epileptiform discharges on electroencephalography (EEG) in patients with intractable epilepsy.Methods Case series of 91 patients (male∶ female =54∶37),aged 12.7 ± 9.76 years,with histo-pathological diagnosis of FCD (based on the consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission).All patients were examined by long-term scalp video EEG monitoring before operation and were followed up at least 6 months after operation.The morphology of the interictal discharges on scalp EEG were divided into 4 types including no epileptiform discharges,spikes,poly-spikes and fast rhythms.The morphology of the seizure onset was also divided into 4 types including spikes,poly-spikes and/or fast rhythms,electro-decremental and unclassified.Results Of 91 patients,there were significant difference between different types of FCD in the morphology of interictal discharges (P =0.013) with polyspikes more common in FCD Ⅱ a and FCD Ⅱ b and fast rhythms more common in FCD]] a and spikes more common in FCD Ⅰ and FCD Ⅲ.But no relationship was found between the morphology of the seizure onset and FCD types (P =0.1976).Conclusions In patients with FCD and intractable epilepsy,the morphology of interictal discharges in scalp EEG is probably related to the pathological types of FCD. Key words: Focal cortical dysplasia; Intractable epilepsy ; Eelctroencephalography; Morphology

Stroboscopy in Detection of Laryngeal Dysplasia Effectiveness and Limitations

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