Micromelic type of spondylo-meta-epiphyseal dysplasia

A 4 8/12 years old girl with micromelic type of spondylo-meta-epiphyseal dysplasia is described. The spondylo-meta-epiphyseal dysplasias of micromelic type present a group of diseases with versatile clinical and radiographic findings. Marked shortening of stature with generalised spondylo-meta-epiphyseal changes in radiographic examination are a constant finding. No biochemical changes were yet reported. The difficulties of early recognition and classification of these cases are stressed.     

Fibrous dysplasia of a third toe

Fibrous dysplasia is a benign disorder of bone, consisting of one or more foci of fibro osseous tissue within the matrix of the affected bone. Fibrous dysplasia usually effects the femur, tibia, ribs, and facial bones and is rarely seen in feet. An unusual case of fibrous dysplasia involving the third toe is presented.     

成人髋臼发育不良Bernese经髋臼周围骨盆截骨术的两维有限元分析

目的：建立成人髋臼发育不良Bernese经髋臼周围骨盆截骨术后模型，并进行生物力学有限元分析。方法:制备尸体标本成人髋臼发育不良模型，并利用Ansys 6．0软件，对髋臼发育不良Bernese术后矫枉过正及合适矫正模型进行生物力学分析。结果：术后矫枉过正模型组外侧、前侧髋臼边缘出现应力增加趋势，作用于髋臼及股骨头的水平分力及剪应力是正常组的2—3倍。结论：探讨髋臼合适矫正的标准Bernese术后髋臼矫枉过正，将会导致髋臼进行性的向前侧、外侧突起畸形及股骨头颈髋臼盂唇撞击综合征。久之导致骨性关节炎。     

Interventricular Fibroma and Cystic Renal Dysplasia in a Newborn

A newborn twin presented with a cardiac tumor; at autopsy microcystic dysplasia was found in the kidneys. The histology of the renal cysts were not unlike those found in many multisystem syndromes (e.g., Schwartz-Jampel, Ehlers-Danlos, and Jeune's asphyxiating thoracic dystrophy). No evidence of tuberous sclerosis or other phakomatoses were found. This case may alert other observers to carefully look for cystic dysplasia of the kidneys or other organs in association with cardiac tumors.     

Ultrastructural findings supporting the angioblastic nature of the so-called adamantinoma of the tibia

Electron microscopy of a case of adamantinoma of the tibia shows features which support a mesenchymal angioblastic origin rather than epithelial. Comparison is made between tissue from this tumour and a squamous cell carcinoma of the femur arising in chronic osteomyelitis. In adamantinoma no desmosomes are found between tumour cells and their cytoplasmic ultrastructure shows features of mesenchymal cell type including evidence of pinocytic activity and bundles of filaments resembling hyperplastic endothelial cells. The stroma shows features similar to fibrous dysplasia of bone with fibroblasts, histiocytes and fibrolipoblastic lipid-laden mesenchymal cells. It is condluded that adamantinoma of the tibia should be considered to be an angioblastic tumour of bone.     

Striated muscle cells in the leptomeninges in cerebral dysplasia

Summary Non-neoplastic foci of skeletal muscle cells are rarely noted within human central nervous system. This report describes two children with developmental anomalies and striated muscle in the leptomeninges. Embryological displacement of notochordal or prechordal mesoderm in certain types of craniovertebral-cerebral dysplasia may account for the origin, the restricted sites and the infrequent observation of leptomeningeal striated muscle cells.     

Comparison of the effect of two and six week exposure to 80% and 100% oxygen on the lung of the newborn mouse: a quantitative SEM and TEM correlative study

Prolonged inhalation of 80% oxygen, in contrast to 100% oxygen, has generally been assumed not to lead to significant pulmonary impairment. Two and six week old C57BL mice were systematically assessed by transmission and scanning electron microscopy for structural changes in the lung caused by inhalation of 80% and 100% oxygen from the first day of life, and the injury was quantitated morphometrically. Six weeks of continuous inhalation of 80% oxygen resulted in diffuse fibrosis of the gas exchanging parts of the lung superimposed on which were, in the 100% oxygen exposed mice, foci of coarse scarring. Lowering the inspired oxygen concentration from 100% to 80% appeared to reduce the mucosal injury more than the interstitial fibrotic response. This suggests that the most persistent alteration caused by chronic supplemental oxygen exposure below 80% will be interstitial fibrosis.     

Intestinal neuronal dysplasia and its morphometric evidences

The aim of this study was to morphometrically objectify the characteristics of intestinal neuronal dysplasia (IND) B by optic electronic image analysis. Biopsies of 60 children divided into two age groups (8 ± 4 months and 4 years ± 20 months) were examined. Three groups (n = 20) were studied: (1) isolated IND B; (2) Hirschsprung-associated IND B (NAIND), and (3) normal controls. A histotopochemical lactic dehydrogenase (LDH) reaction was used for the morphometric measurement of ganglion size, nerve cell size, and number of nerve cells per ganglion. The submucous neural density was measured with an acetylcholinesterase reaction. The results showed no significant morphometric differences between isolated IND and HAIND. Aging caused an increase in ganglion and nerve cell size. The density of the submucous plexus decreased with age. All parameters measured were significantly different from normal controls. Giant ganglia with a high number of LDH-positive nerve cells (IND: > 7, controls: 4 ± 1 nerve cells/ganglion) were the most relevant diagnostic parameter of IND. The pathogenesis of a dysganglionosis is dominated by abnormal early, genetically caused laminin expression during embryonic life, blocking neuroblast migration (aganglionosis) and prematurely differentiating neuroblasts into myenteric (hypoganglionosis) and submucous plexus (IND). IND B, hypoganglionosis, and aganglionosis are different manifestations of an identical developmental abnormality in which IND is the weakest form.     

Urinary malondialdehyde concentration in preterm neonates: is there a relationship to disease entities of neonatal intensive care?

In a retrospective study, urinary malondialdehyde concentration in 45 preterm neonates (25–35 weeks' gestation) during their first month of life was measured by HPLC. Urine was collected on different days of life as a 3-h sample. The frequency of urine collection and measurement varied between one (n = 22) and seven times (n = 8) per child. The study group was divided into three categories according to birth weight: low-birth-weight infants (LBW) (n= 16), very low-birth-weight infants (VLBW) (n = 17) and extremely low-birth-weight infants (ELBW) (n=12). Urinary malondialdehyde concentration was highest in the ELBW group: 1.15 (0.66, 2.12) μmol/l (median and quartiles) versus 0.58 (0.34, 1.18) μmol/l in the VLBW and 0.60 (0.40, 1.06) μmol/l in the LBW groups (ELBW versus VLBW, p < 0.005; ELBW versus LBW, p<0.02). In oxygen-treated neonates, significantly higher malondialdehyde values were found compared to those without supplementary oxygen (0.89 (0.48, 1.74) versus 0.58 (0.32, 0.89) μmol/l; p < 0.005). Likewise, a higher malondialdehyde concentration was found in infants requiring mechanical ventilation (intermittent mandatory IMV or high frequency ventilation) compared to those breathing spontaneously (intermittent mandatory ventilation: 0.80 (0.42, 1.66); p < 0.05 and high frequency ventilation: 1.20 (0.83, 2.13); p < 0.001 versus 0.57 (0.33, 0.88) μmol/l). Malondialdehyde concentrations correlated significantly with FiO₂ yalues of the individual patients (r = 0.22; p<0.02). Comparing urinary malondialdehyde concentrations in infants with and without bronchopulmonary dysplasia, a significantly higher malondialdehyde concentration was found in the former group (0.96 (0.51, 2.07) versus 0.60 (0.32, 0.98) μmol/l;p<0.005)). Infants with patent ductus arteriosus had a higher urinary malondialdehyde concentration than those without patent ductus arteriosus (1.04 (0.58, 3.78) versus 0.64 (0.36,1.20) μmol/l;p 0.05)). Malondialdehyde concentrations were also higher in infants with intracranial bleeding compared to those without (0.83 (0.46, 1.42) versus 0.56 (0.33, 1.10) μmol/l; p<0.02)). No significant differences in urinary malondialdehyde concentration were seen, either in relation to i v feeding with or without lipid emulsion or to medication administered. Native malondialdehyde concentration in seven commercial preparations of lipid emulsion after various periods of storage was fairly constant (12.3 ± 0.4 μmol/l) (mean ± SD).     

Odontotrichodysplasia: A Case Report with a Review of Conditions Combining Ectodermal Dysplasia (Subgroup 1–2) with Skin Manifestations

We report a 5-year-old girl with partial anodontia, hypotrichosis, hyperpigmentation of the skin, absence of pilosebaceous structures, and long thin fingers. There has as yet been, to the best of our knowledge, no report of such a combination of features. A review of conditions combining ectodermal dysplasia (subgroup 1–2) with skin manifestations is presented.