Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

We report a boy with a unique, ‘new’ form of spondyloepimetaphyseal dysplasia. The conspicuous features of the spinal changes were the delay in ossification of the cervical spine and posterior elements of the thoraco-lumbar spine. The vertebral bodies were of abnormal shape but of normal size and well ossified. The hallmark of epiphyseal changes was markedly delayed ossification (bone age). The severely disturbed metaphyseal ossification was similar to Jansen metaphyseal dysplasia. This pattern of changes has not yet been described in spondyloepimetaphyseal dysplasia.     

Retrospective diagnosis of chondrodysplasia punctata

The diagnosis of punctate epiphyseal dysplasia (PED) after disappearance of puncta is problematical. In some instances, however, the phenotypic and radiographic characteristics may persist and permit a retrospective diagnosis of PED in persons with unclassified bone dysplasia or bone changes of unknown origin. We report a boy aged 8 years who presented with unusual bony abnormalities that were consistent with a diagnosis of PED.     

Dutch variant of Bellini metaphyseal dysplasia: Report of two siblings

Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which they named trichoscyphodysplasia and metaphyseal acroscyphodysplasia. Although the authors agree that there is more than one bone dysplasia that presents with these distinctive radiographic knee appearances, they consider that too few cases have been reported to satisfactorily classify this group of disorders.     

Mesomelic dysplasia: Langer type

Two patients with Langer type mesomelic dysplasia are reported. This is one of the rare but well differentiated and easily recognizable mesomelic dysplasias.     

Metatropic Dysplasia and its Variants (Analysis of 14 Cases)

METATROPIC DYSPLASIA is a spondylo-epi-metaphyseal dysplasia with characteristic clinical and radiographic features. 37 cases of the disorder were reported up to 1983 accordingly to Beck et al. 14 cases of spondylo-epi-metaphyseal dysplasia of metatropic variety from 9 paediatrk institutions have been analysed. Radiologically and clinically we discern four groups of patients with features of metatropic dysplasia. 1. A lethal, pen-natal type, 2. An autosomal recessive type with diagnostic radiographic findings and often fatal outcome in the first few years of life, 3. A rare dominant type, 4. A mild type consistent probably of different spondylo-epi-metaphyseal dysplasias which show mild metatropic changes. (Metatropic Dysplasia Variants).     

Microcephalic,osteodysplastic, primordial dwarfism

A case of microcephalic, osteodysplastic, primordial dwarfism (cephaloskeletal dysplasia of Taybi and Linder) is reported. This rare disease is characterised by unique clinical appearances and diagnostic radiographic findings. It is also associated with distinctive brain abnormalities. The latter include micrencephaly, lissencephaly, corpus callosum aplasia/agenesis and unusual histological brain abnormalities.     

Human papillomavirus type 52 polymorphism and high‐grade lesions of the uterine cervix

The association between polymorphism of human papillomavirus type 52 (HPV52) and high‐grade cervical intraepithelial neoplasia (CIN2,3) was investigated in Canadian women. HPV‐52‐positive endocervical specimens collected from 216 women selected from a total of 3,614 participants recruited in two case‐control and two cohort studies conducted in Canada, were further analyzed by PCR‐sequencing of the LCR and E6 gene. Overall, the HPV52 LCR prototype was detected more frequently in Caucasian women (69 of 132, 52.3%, 95% confidence interval (CI): 43.8%–60.6%) than in non‐Caucasian women (15 of 48, 31.3%, 95% CI 19.9%–45.4%). In two cohort studies, HPV52 prototype was detected in seven of 15 (46.7%, 95% CI 24.8–69.9) HPV52 persistent infections and 14 of 35 (40.0%, 95% CI 25.5–56.5) transient infections (p = 0.76). In two case‐control studies, 30 participants did not have CIN, 18 had low‐grade CIN (CIN1), 64 had CIN2,3, seven had cervical cancer and the diagnosis was undefined for 27 women. Variant MTL‐52‐LCR‐02 was detected more frequently in women with cancer (28.6%, 95% CI 7.6%–64.8%) than in women without cancer or CIN2,3 (0%, 95% CI 0.0%–9.2%; p = 0.015). CIN2,3 risk was significantly associated with a deletion at nucleotide position 7695 in the LCR (OR 4.9, 95% CI 1.2–20.8), the T7744C variation in the LCR (OR 5.7, 95% CI 1.1–32.0), and the K93R variation in E6 (OR 6.9, 95% CI 1.3–36.8), after adjusting for age, detection of HPV16 or 18 and study site. These findings indicate that HPV52 polymorphism influences risk of CIN‐2,3 and possibly invasive cancer.     

Fibrocartilaginous dysplasia (Fibrous dysplasia with extensive cartilaginous differentiation)

Fibrocartilaginous dysplasia is a variant of fibrous dysplasia in which extensive cartilaginous differentiation is identified. The amount of cartilage varies from case to case, however, no percentage has been proposed to consider this diagnosis. We present a 6 year-old girl with a two-year history of hip pain. Initial imaging studies of the right femur revealed a lucent lesion of the proximal shaft that extended into the femoral neck with ill-defined borders but wellmaintained cortex. Computed tomography scan demonstrated increased density of the medullary cavity but the cortex appeared intact. Curettage of the lesion was performed and fragments with cartilaginous appearance were obtained, weighing 45 g in total. Microscopically, the tumor revealed a cartilaginous (60%) and a fibro-osseous (40%) component; the former had increased cellularity and some chondrocytes displayed moderate atypia and binucleation, while the latter showed features of fibrous dysplasia. Areas of endochondral ossification and calcification were also identified. After five years of surgery this child is well and without evidence of recurrence. We discuss the differential diagnosis of this variant of fibrous dysplasia in the pediatric group.(Pathology Oncology Research Vol 12, No 2, 111–114)     

Dominant Craniometaphyseal Dysplasia — A Family Study Over Five Generations

A two month old male infant being investigated for nasal obstruction was noted to have the typical facies and radiological changes of craniometaphyseal dysplasia. Investigation of the family detected 9 individuals in 4 generations with radiological evidence of craniometaphyseal dysplasia. Their ages ranged from 2 months to 70 years. Three presented with nasal obstruction, one with facial nerve dysfunction and three had developed deafness in or before their third decade. Two were asymptomatic. One family member, now dead, was known to have had early onset of deafness but had not been examined or X-rayed. All of the affected individuals were noted to have had the typical facies in childhood. Characteristic radiological findings in the cranium and long bones were present to a varying degree and were most prominent in those presenting in infancy.     

Prevalence of abnormal Papanicolaou smears and cytohistological correlation: A study from Aga Khan University Hospital, Pakistan

Objectives: To determine the prevalence of abnormal Papanicolaou (Pap) smears in patients visiting the gynecologic outpatient department at Aga Khan University Hospital, Karachi (AKUH) and their cytohistologic correlation. This data was also compared with other international institutions. Methods: A database search of all abnormal cervical cytological cases diagnosed in the gynecologic outpatient department at Aga Khan University Hospital in the last 10 years (i.e. from 1994 to 2004), as well as their follow‐up biopsies, was carried out. The data was then analyzed. Results: Of the 66 617 Pap smears reviewed, 95% of cases had a diagnosis of ‘negative’, 2% of smears were labeled as ‘inadequate’, 0.54% Pap smears showed dysplastic changes, and 0.14% were labeled as ‘malignant’. These numbers are less than figures in Western countires, but are comparable with Asian figures. The pick‐up rate for abnormal Pap smears was 8/1000, while the overall concordance rate was 74%; positive predictive values for high‐grade cervical lesions and for carcinomas was high 92–100%, respectively; while for ASCUS and low‐grade cervical lesion was 35% and 67%, respectively. A total number of 8 cases were identified where there was a discrepancy between cytological and histological diagnosis, they were reviewed critically. Conclusion: In most of the developing countries effective Pap screening faces certain barriers. This includes limited or poor quality of cytology services. In a low‐resource country like Pakistan there is a subset of patients (those with atypical cellular abnormalities) who may benefit from repeat smears instead of early cervical biopsies. In order to improve the efficacy of our cytology services, we need to develop specific clinical protocols for subsequent management of abnormal smears.     

Cranio-Metaphyseal Dysplasia (Report of 3 cases - two infants and one adult)

Two infants were investigated because of facial nerve palsy. Clinical examination suggested the diagnosis of cranio-metaphyseal dysplasia and radiographic examination was typical of this. The mother of one of the infants was affected along with three relatives. This bone dysplasia is characterised by sclerosis of the skull and abnormal modelling of the long bones often heralded by neurological complication. The radiographic features are typical.     

Human papillomavirus type 31 DNA detected in part of the dysplasia but in no part of the squamous metaplasia in a specimen taken from one patient.

Using in situ hybridization, human papillomavirus (HPV 6, 16, 18, 31, 33) DNAs were detected in a cervical severe dysplasia accompanied by squamous metaplasia. It was found that, only HPV 31 DNA was harbored in the cervical severe dysplasia, but HPV DNAs were not identified in a lesion of squamous metaplasia. The in situ hybridization method will be of use, therefore, when dysplasia with squamous metaplasia or other lesions are examined for HPV DNA. In a cervical smear, HPV 31 DNA could be detected on the nuclei of dysplastic cells, so this method is applicable to cervical smears. If squamous metaplasia is to be considered as a precursor lesion to cervical dysplasia, the HPV DNA harbored in the dysplasia must also be detected in the accompanying squamous metaplasia. Our results suggested that not all squamous metaplasias were involved with HPV, as far as we were able to detect using five types of HPV DNA probe.     

Profile of Colorectal Polyps: a Retrospective Study from King Fahad Hospital,Madinah, Saudi Arabia

Aim: To evaluate the predominant colorectal polyps in the Almadinah region of Saudi Arabia. Materials andMethods: In this iretrospective study, we analyzed pathology reports of colonoscopies performed in King FahadHospital, Madinah, Saudi Arabia during the period 2006 to 2013. Data based on patient age, gender, size, siteand type of polyps and the degree of dysplasia were analyzed by software SPSS 17 and compared with otherpublished studies from different geographic regions of the world. Results: During these years, 224 patients hadcolonic polyps, of whom 149 (66.5%) were men and 75 (33.5%) were women. The most common types of polypswere adenomatous (166), followed by hyperplastic polyps (24), juvenile (18), inflammatory (13), lipomatous(2) and one patient with Peutz-Jegher polyps. Tubulovillous adenoma was the commonest adenomatous polyp(102), followed by tubular (41) and villous (23) types. The sigmoid colon was the most commonly involved region(36.6%). Dysplasia was significantly associated with female patients who had large size tubulovillous polypslocated in the left colon. Conclusions: The type and distribution of colorectal polyps in Saudi Arabia is verysimilar to Western countries. Patient gender, and size, histological type and location of polyps are closely relatedto dysplastic change in colonic polyps.     

Tetraspanins CD9 and CD151, epidermal growth factor receptor and cyclooxygenase-2 expression predict malignant progression in oral epithelial dysplasia

Background:

Prognostic biomarkers aim to improve on the current inadequate method of histological assessment to identify patients with oral epithelial dysplasia at greatest risk of malignant transformation. We aimed to assess the prognostic ability of six protein biomarkers linked to the epidermal growth factor receptor (EGFR) pathway, including three tetraspanins, in a large multicentre oral dysplasia cohort.

Methods:

One hundred and forty-eight cases with varying degrees of epithelial dysplasia underwent immunohistochemical assessment for CD9, CD151, CD82, EGFR, Her-2, and COX-2. Scoring was performed independently by two observers. Univariate analyses using both logistic and Cox regression models and a multivariate regression were performed.

Results:

Malignant progression was significantly greater in those cases with decreased expression of CD9 (P=0.02), and increased expression of CD151 (P=0.02), EGFR (P=0.04), and COX-2 (P=0.003). Histological grade (P=0.0002) and morphology (P=0.03) were also prognostic, whereas smoking and alcohol were not. The optimal combination by backward-variable selection was of histological grade (hazard ratio (HR) 1.64; 95% CI 1.12, 2.40), COX-2 overexpression (HR 1.12; 1.02, 1.24) and CD9 underexpression (HR 0.88; 0.80, 0.97). CD82 and Her-2 demonstrated no prognostic ability.

Conclusion:

This is the first study of the expression and prognostic potential of the tetraspanins in oral dysplasia. A combination of certain biomarkers with clinical factors appeared to improve the accuracy of determining the risk of malignancy in individuals with oral dysplasia. These findings may also offer potential new therapeutic approaches for this condition.     

Ossifying fibroma of the jaws: report of two cases and literature review

Ossifying fibromas are uncommon benign tumors of the craniofacial skeleton thought to originate from the periodontal ligament. Most are small and incidentally diagnosed with routine dental radiographs. With larger lesions, patients may complain of an abnormal bite or an enlarging mass. This tumor involves slow-evolving growth with deforming swelling generally arising in the mandible, with possible early tooth displacement. From the radiological perspective, more than 50% of the lesions exhibit an expansion of the jaws and 53% shows well-defined unilocular radiolucencies and 40% are mixed radiolucent-radiopaque lesions. The lesions exceptionally can be radiopaque. Ossifying fibroma presents several variant histopathological subtypes. The overlapping clinical and histopathological features of these subtypes have led to diagnostic dilemma and confusion. Complete excision of this tumor has become a necessity since it is notorious for recurrence. We present here two cases of ossifying fibroma of the jaws along with insight into the literature review.     

河北省磁县食管癌普查

[目的]通过内镜普查了解食管癌高发区人群食管及贲门癌和其他各种病变的患病情况，达到早诊早治的目的。[方法]河北省肿瘤研究所于2002年在磁县台城乡进行了电子纤维胃镜辅以碘染色普查，结果采用SPSSl0．0软件进行统计学处理。[结果]食管癌高发区人群中轻度食管炎、中度食管炎、重度食管炎的组织学检出率分别是34．9％、1．6％、0．2％；轻度不典型增生、中度不典型增生、重度不典型增生的组织学检出率分别是8．6％、7．8％、2．6％；食管原位癌、黏膜内癌、浸润性鳞癌的组织学检出率分别是2．5％、0．2％、0．7％。贲门炎的组织学检出率是47．8％；轻度不典型增生、重度不典型增生的组织学检出率分别是2．5％、0．8％；黏膜内腺癌、浸润性腺癌的组织学检出率分别是0．1％、0．8％。内镜普查食管癌的早期发现率为79．4％。普查率达73．8%。[结论]电子纤维胃镜辅以碘染色直接普查较拉网普查的优点是可以得到食管和贲门各种病变的组织学诊断，早期食管癌的检出率高于拉网普查．为二级预防打下基础。     

Comparison Between Two Detection Methods for HPV16,HPV18 and P16Ink4a Biomarkers in Diagnosis of Abnormal Cervical Cytology

Background: Cervical cancer is the second most common cancer among women in many populations. While the Pap smear is a well established screening test it suffers from both false-positive and false-negative results in diagnosis of cancers and precancerous states. In this study, immunocytochemistry of the P16 biomarker and HPV-PCR were compared for their diagnostic potential. Materials and methods: In the study, we obtained pairs of specimens from 45 women with cervical dysplasia. One sample was placed in a liquid-based solution, and processed for staining of sections with antibodies to P16. HPV-PCR was performed on the other and the results obtained were analyzed by T-test using SPSS v. 15. Results: Using HPV-PCR 71% of the samples were found to be infected with either HPV 16 or HPV 18, and the rate of infection did not have a statistically significant relationship with higher grades of dysplasia (p= 0.253). In contrast, with immunocytochemistry evaluation of P16, 64% of the specimens were positive, but the percentage of positive results significantly increased with higher grades of dysplasia (p= 0.0001). Conclusion: Employment of the P16 marker as an optional test might be preferable over HPV-PCR for cervical dysplasia in our geographical region.     

Unclassified Osteochondrodystrophies with Extreme Platyspondyly (Report of two cases)

Two girls with different unclassified bone dysplasias characterised by severe, generalised platyspondyly are reported. In view of unrewar ding biochemical investigations the clinico-radiographic examinations remain the most im portant method of evaluation in this group of diseases.     

Inter- and Intra-Observer Variability in Diagnosis of Oral Dysplasia

Background: Oral potentially malignant disorders (OPMDs) are lesions from which malignancy is more likely to develop that from other tissues. The potential for malignant transformation of OPMDs is estimated by determining the degree of dysplastic changes in the epithelium. Dysplasia grading has been criticized for lack of reproducibility and poor predictive value but is still considered the gold standard for diagnosing OPMDs. Since grading of dysplasia is based on architectural and cytological changes, there can be considerable inter- and intra-observer variability due to subjective impressions. This aim in this study was to assess the degree of agreement between two pathologists grading dysplasia in the same patients and review the existing grading system. Materials and Methods: In this hospital-based cross-sectional study, 100 patients with clinically diagnosed OPMDs were subjected to biopsy followed by histopathological examination. The slides were examined by two pathologists using WHO and binary systems of classification and both were blinded to the clinical and each other’s histological diagnosis. For statistical analysis the Chi square test was applied. Results: Statistical analysis showed poor inter-observer variability with P values of 0.8 using the WHO classification and 0.3 using the binary classification. Conclusion: Our study provides evidence that the existing systems for grading dysplasia are not competent to rule out subjectivity. There is a need for a classification system that can overcome this drawback.