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.     

Spondylo-Metaphyseal Dysplasias

One case of the common type and three pairs of siblings with hitherto undescribed varieties of spondylo-metaphyseal dysplasia are reported. All the pairs of siblings showed concordance in the spine changes. Some intrafamilial variability of the metaphyseal changes were present in pairs I and III of the siblings.     

Metaphyseal chondrodysplasia,type Jansen

The Jansen type of metaphyseal dysplasia is a rare disorder with significant clinical and radiographic variability. Two cases of classical Jansen disease and one with some distinctive features suggestive of the Jansen variant are reported.     

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)     

Diastrophic dysplasia with severe primary kyphosis and ‘monkey wrench’ appearance of the femora

The cases of two sisters with severe diastrophic dysplasia who showed some unusual radiographic features (kyphosis secondary to hypoplasia/dysplasia of the lumbar spine and a ‘monkey wrench’ appearance of the proximal femur) are reported here. Absent patellae were another feature that has not previously been reported in diastrophic dysplasia.     

腰椎单骨型骨纤维结构不良1例及文献复习

目的:结合文献复习,探讨脊柱单骨型骨纤维结构不良的治疗方法及预后。方法:报告１例经影像学、病理证实腰椎骨纤维结构不良的患者,行前路腰3椎体病灶及附件切除、L2-4间钛网置入脊柱前柱重建、植骨融合、MACS内固定术,并回顾相关文献。结果:术中切除部分腰3椎体及附件,重建脊柱稳定,病理检查结果提示:（L3椎体肿瘤）纤维结构不良,免疫组化结果示:CAM5.2(-)、CKpan(-)、EMA(-)。术后病人疼痛症状缓解,恢复良好。结论:脊柱单骨型纤维结构不良比较罕见,经前路病灶清除、植骨内固定可获得良好的治疗效果。     

Unclassified Osteochondrodysplasia With 14 Years' Observation Time

A 14½-year-old boy with undifferentiated osteochondrodysplasia was described. Shortening of the long bones with metaphyseal flaring were the most important radiographic findings in the newborn period. The dynamic nature of the changes–regression of the metaphyseal flaring and development of other deformities with age (uneven shortening of the long bones, platyspondyly of the thoracic spine, narrowing of the inter-pedicular distances in the lower thoracic and lumbar spine, hypoplasia of the knee epiphyses with valgus deformity and peculiar shape of pelvis and jaw) have been stressed. This case represents well the unpredictability of bone changes in undifferentiated osteochondrodysplasia of the newborn.     

胃粘膜上皮异型增生与早期胃癌临床病理随访

（目的）利用病理形态学诊断标准，随访观察胃粘膜异型增生与早期胃癌的关系。（方法）采集该院12年间2800例胃粘膜活检标本，从中检出64例各类型异型增生为随访观察对象。（结果）各类型均可见癌变，但以重度异型增生癌变率高。（结论）轻中度异型增生为可逆性病变，而重度异型增生为不可逆病变或正在癌变中的粘膜变化。     

Effects of etoposide and cyclophosphamide acute chemotherapy on growth plate and metaphyseal bone in rats

Pediatric cancer chemotherapy is known to cause bone growth arrest and osteoporotic changes, and yet the underlying mechanisms remain largely unknown. This project investigated effects of acute chemotherapy with topoisomerase inhibitor etoposide (Eto, 80 mg/kg), alkylating agent cyclophosphamide (Cyc, 240 mg/kg) or their combination (Cyc 120 mg/kg + Eto 50 mg/kg) on structural and cellular changes in the growth plate cartilage and metaphyseal bone, two important regions responsible for bone growth and bone mass accumulation. On day 3 after a single injection with either of the three treatments, although the total growth plate thickness was not significantly altered, the cellularity and height of the proliferative zone were significantly reduced. It was shown that while Eto suppressed chondrocyte proliferation, Cyc induced apoptosis in the growth plate proliferative zone. In the metaphysis, although osteoblastic cell surface was decreased in all three treated groups, the trabecular bone bone volume (BV/TV%) was not significantly altered on day 3. On the other hand, the acute chemotherapy reduced heights of both primary and secondary spongiosa trabecular bone. Therefore, Eto and/ or Cyc chemotherapy altered survival or proliferation of growth plate chondrocytes and metaphyseal osteoblastic cells and reduced heights of metaphyseal spongiosa trabecular bone, which may contribute to chemotherapy side effects of these two drugs on bone lengthening and bone mass accumulation.     

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).     

Diaphyseal osteosarcomas have distinct clinical features from metaphyseal osteosarcomas

Aims

The aim of this study was to clarify the clinical features and outcomes of diaphyseal osteosarcoma.

Methods

Patients with newly-diagnosed high-grade osteosarcoma occurring in the long bone were eligible for this retrospective study. Clinicopathological information was collected from our database and compared with 36 diaphyseal, 405 proximal and 519 distal metaphyseal, and 14 whole bone osteosarcoma patients. Additionally, case–control study matching by age, gender, site, and metastatic status at diagnosis with 1:3 ratio of 36 diaphyseal to 108 metaphyseal osteosarcomas patients was also conducted.

Results

Five-year overall survival and metastasis-free survival of the three groups including diaphyseal, metaphyseal, and whole bone osteosarcoma patients showed significant difference (P = .029 and P = .013, respectively), although there is no difference for the survivals between proximal and distal metaphyseal osteosarcoma patients. Case-control study showed that patients with diaphyseal osteosarcomas had a significantly larger tumour (mean 13.5 cm vs 10 cm, P = .026), and demonstrated higher pathologic fracture rate (28% vs 12%, P = .033), superior 5-year metastasis-free survival (74% vs 40%, P = .0068), and slightly better 5-year overall survival (68% vs 46%, P = .074). Prognostic factor analysis showed that a pathologic fracture significantly decreased the survival of the patients with diaphyseal osteosarcoma.

Conclusions

The current study showed that diaphyseal osteosarcoma has distinct clinical features from metaphyseal osteosarcoma having an increased risk of pathologic fractures but with favorable survival outcome.     

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.     

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.     

Radiological manifestations of the skeleton,lungs and brain in Stueve–Wiedemann syndrome

A total of 25 patients with the rare skeletal dysplasia Stueve–Wiedemann syndrome (SWS) have been evaluated during the last 11 years. Of all patients with clinical suspicion of SWS, skeletal and chest radiographs were obtained for classification of the underlying skeletal dysplasia. In one case, CT was carried out for the first time for further investigation of the midface hypoplasia. Typical conventional radiological findings and CT features were analysed and compared with published data. Early diagnosis of SWS was made by correlating radiological and clinical findings. Follow‐up radiological examinations of the skeleton and of the chest were carried out in six children surviving infancy for evaluation of progression. Clinically, they suffered from progressive orthopaedic problems, recurrent aspiration pneumonia and recurrent episodes of hyperthermia, as well as cutaneous infections. Radiologically progressive bowing of the long tubular bones and progressive metaphyseal decalcification were present on follow‐up skeletal radiographs. Skeletal abnormalities in SWS are so characteristic that an early post‐partum diagnosis can be made by correlation of typical clinical and radiological findings. Few cases survive infancy. First, these patients face progressive orthopaedic problems and respiratory infections.     

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.     

骨性纤维发育异常4例临床病理分析

目的探讨骨性纤维发育异常这一新病种的临床、放射学和病理特征。方法对4例骨性纤维发育异常患者的临床资料进行分析,并与10例骨纤维结构不良者进行对照分析。结果4例骨性纤维发育异常患者中3例行病灶清除＋自体植骨术,1例仅行病灶切除＋碘酊烧灼骨腔内壁。随访3年,其中1例术后2年复发。结论骨性纤维发育异常其临床表现、放射学和病理学改变均有其自身固有的特点,不应与骨纤维结构不良和长骨骨化性纤维瘤相混淆。     

胸椎黄韧带骨化性椎管狭窄的治疗

目的探讨漂浮法经根黄通道后路椎板切除治疗胸椎黄韧带骨化性椎管狭窄的远期效果。方法对22例胸椎黄韧带骨化性椎管狭窄行漂浮法经根黄通道后路椎板切除减压术。结果22例随访6—75个月,平均36．2个月,参考Epstein等的评价标准,优良率81．8％。术中10例损伤硬膜者6例经缝合或修补愈合,4例术后脑脊液漏者经引流等保守治疗方法治愈。结论漂浮法经根黄通道后路椎板切除减压术治疗胸椎黄韧带骨化性椎管狭窄,减压安全、彻底,可获得良好的治疗效果。     

胃粘膜上皮异型增生细胞增殖活性及凋亡与幽门螺杆菌感染的关系

背景与目的:异型增生是胃癌的癌前病变,但其癌变机制目前仍不清楚,本文通过对异型增生自然转归过程中细胞增殖活性和凋亡变化及幽门螺杆菌(Helicobacterpylori,HP)感染状态的研究,探讨二者之间的关系及其对异型增生癌变的影响。方法:取12例正常胃粘膜(对照组)和105例有随访结果的胃粘膜异型增生胃镜活检标本〔其中高度异型增生35例(癌变30例、未癌变5例);低度异型增生70例(癌变18例、未癌变52例)〕。全部标本均采用TUNEL(terminaldeoxynucleotidyltransferasemediatednickendlabeling)法检测凋亡情况;采用免疫组化法检测增殖细胞核抗原(proliferatingcellnuclearantigen,PCNA)表达情况;采用多聚酶链反应(polymerasechainreaction,PCR)检测HP及其CagA(+)株感染状况。结果:异型增生的HP感染率为84.76%,与对照组的83.33%相比差异无统计学意义,但CagA(+)株感染率为85.39%,高于对照组的60.00%。HP(+)和CagA(+)病例的增殖指数分别较HP(-)和CagA(-)为高(P<0.05),异型增生中PCNA的异常与HP及CagA(+)株感染有关(P<0.05)。凋亡/增殖比的变化与Hp的CagA(+)株感染有关(P<0.05)。结论:胃粘膜异型增生的形成及其自然转归过程中,异型增生的细胞动力学异常与HP、CagA(+)株感染有关。     

Kniest Syndrome (Report of two Cases)

Kniest syndrome is a rare type of osteochondrodystrophy apparent already at birth. The disease is characterised by shortening both of the trunk and extremities of the rhizomelic type, facial dysmorfism, thickening and decreased mobility of the joints, and progressive myopia and deafness. The radiographic changes are diagnostic. They comprise a generalised platyspondyly, epiphyseal dysplasia, metaphyseal flaring and rectangular iliac bones. The disease is inherited as a dominant trait.     

以吞咽困难为主要表现的弥漫性特发性骨质增生症一例报告

临床资料 患者,男,70岁,主诉吞咽不适感伴颈部酸痛2年,加重个月入。患者于2年前自感吞咽硬食时咽部不适,于当地医院行胃食管镜检查,未见明显阳性结果,于同期出现颈部酸痛感,偶有双侧手指指端麻木感,无明显上肢放射痛及“踩棉花感”。