Spinal muscular atrophy in trizygotic triplets

The clinical, electrophysiological, pathological and genetic findings in trizygotic triplets with spina muscular atrophy (SMA) are reported. The first child was clinically affected shortly after birth and the third one first showed symptoms at 1 month of age. Electromyography and a muscle biopsy provided evidence of lower motor neuron disease. The second child remains clinically normal, but electromyography showed fibrillation potentials and regular spontaneous motor unit activity at rest. Genetic linkage analysis revealed that the two siblings with typical type 1 SMA had the same chromosome 5q haplotype, and that the second child had a different haplotype. It is considered that in this family there is a link to SMA 5q and there is little possibility that the second child is affected. These data emphasize the need to adhere to strict clinical criteria for the diagnosis of chromosome 5q SMA.     

A Preliminary Report on Autologous Bone Marrow Transplantation for the Treatment of Advanced Non-Hodgkin's Lymphoma

Four patients with advanced non-Hodgkin's lymphoma of unfavorablehistology were treated with marrow-lethal doses of cyclophosphamide(CY) and total body irradiation (TB1) followed by the infusionof cryopreserved autologous marrow. All four patients showedengraftment after autologous bone marrow transplantation andachieved complete remission (CR). Three of them, however, developedrelapse in 1.7, 12.9 and 14.5 mo respectively after the transplantation.The other patient has survived in drug-free CR for more than16.6 mo. There was no treatment-related death although therewere some tolerable complications. These data suggest that theCY-TBI regimen may be effective in inducing CR in patients withadvanced non-Hodgkin's disease but it does not contribute topreventing relapse.     

In vitro IgE-secreting cells in man I. Mitogen-independent and -dependent subpopulations

In vitro IgE secretion by atopic and normal peripheral-blood lymphocytes was examined in culture with pokeweed mitogen or Staphylococcus aureus strain Cowan-I (StaCw) or without mitogen. IgE secreted in culture supernatants was measured with double antibody radioimmunoassay. Enumeration of IgE-secreting cells was made by a protein-A plaque assay. IgE was detected in increasing quantities in supernatants of cultured lymphocytes without mitogen up to the 12th day. IgE-plaque-forming cells were formed by the lymphocytes in large numbers on days 4–7 in cultures with mitogen. These results suggest that not only mitogen-independent but also mitogen-dependent subpopulations may exist in the IgE-secreting cells.     

Hepatic Proteins in Regenerating Liver

Abstract  Albumin immunoreactivity in the liver was examined on days 2, 5 and 10 after two-thirds partial hepatectomy by light and ultrastructural immunoperoxidase methods and the ultrastructural area of the rough endoplasmic reticulum (ER) in hepatocytes was measured. Albumin immunoreactivity was seen in the rough ER and Golgi apparatus of all hepatocytes in the hepatectomized liver and ultrastructural analysis showed a significantly greater area of rough ER on day 5 than on days 2 or 10. Albumin mRNA was studied by the in situ hybridization technique using radioisotopes and their numbers were determined visually. Albumin mRNA was present as grains in all hepatocytes and the grains varied in number during regeneration of the liver, being more abundant on day 5 than on days 2 or 10. The activity of [³H]-leucine incorporated into albumin synthesis, an indicator of translational activity, was higher on days 5 and 10 than on day 2 and was highest on day 5. In conclusion, albumin synthesis varied during liver regeneration after partial hepatectomy, being reduced at the peak of cell proliferation on day 2 and being most active on day 5.     

Reentrant Ventricular Outflow Tract Tachycardia Arising from Focal Scar Detected by Delayed Enhancement Magnetic Resonance Imaging

A 58‐year‐old man was referred to our emergency room with hemodynamically unstable sustained ventricular tachycardia (VT). The morphology of the VT exhibited a left bundle branch block and inferior axis deviation. He had no past history of cardiovascular disease. Echocardiography, cardiac catheterization, cardiac biopsy, gallium scintigram, myocardial scintigram, T1,T2‐weighted magnetic resonance imaging (MRI), and gadolinium‐enhanced cine MRI did not detect any structural heart disease or abnormal cardiac function. However, delayed‐enhancement MRI (DE‐MRI) detected a focal intramural scar within the septal ventricular outflow tract. An electrophysiological study revealed a sustained VT with several morphologies and the entrainment phenomenon. Radiofrequency catheter ablation to the site corresponding to the focal scar detected by DE‐MRI successfully eliminated the VT. (PACE 2012;35:e349–e352)     

鸡胚尿囊膜(HET-CAM)眼刺激替代试验对产品及原料评价的比较

目的 比较鸡胚尿囊膜试验(HET-CAM)作为一种眼刺激替代方法对产品或原料的评价.方法 采用HET-CAM和兔眼Draize试验方法,对19种原料和23种化妆品及家用洗涤产品眼刺激性进行检测,对体内体外试验的结果进行统计比较.结果 比较体内体外试验,原料和产品的kappa系数分别为0.826,0.531;灵敏度分别为100%,81.8%;特异度分别为85.7%,77.8%.结论 HET-CAM可作为Draize试验的替代试验,HET-CAM系统更适合对单纯化学品原料进行眼刺激试验.