Severe Neonatal Nemaline Myopathy—Histological and Histochemical Studies of Respiratory Muscles—

The histological and histochemical findings in the respiratory muscles of a patient with severe neonatal nemaline myopathy are described. The patient suffered from frequent pneumonia associated with vomiting due to gastroesophageal reflux and died at 3 months from respiratory failure. The diaphragm was moderately involved and the intercostal muscles mildly involved. Core/targetoid structures were observed in the diaphragm and intercostal muscles.     

Establishment and Characterization of a New Ph1-Positive Chronic Myeloid Leukemia Cell Line MC3 with Trilineage Phenotype and an Altered p53 Gene

A new Ph¹-positive leukemic cell line (MC3) expressing the P210^ber/abl oncoprotein was established from a patient with CML in blast crisis. The MC3 cells showed the trilineage phenotype of myeloid, lymphoid (CD 19) and megakaryocytoid lineages, and had a proliferative response to rhIL-1 and rhIL-3 in the serum-free culture. These results and the expression of CD34 indicated that the MC3 cells have characteristics of hematopoietic progenitor cells. Recently, it has been documented that alterations of the p53 gene in leukemic cells are frequently detected during the blast crisis of CML. The MC3 cells contained the altered p53 gene. In addition, the original leukemic cells showed the point-mutational activation of the N-ras gene and an additional chromosomal abnormality inv(3q), but the MC3 cells contained no such abnormalities, indicating that not all of the original leukemic cells had these abnormalities. Thus, the MC3 cell line may provide several insights into investigations of the blast crisis in CML as well as hematopoietic progenitor cells.     

Myelopathy due to scoliosis with vertebral hypertrophy in Klippel-Trenaunay-Weber syndrome

We describe a 37-year-old man complaining of right back pain and gait disturbance. He had a big soft tumor on his right back, hemihypertrophy of the right lower extremity, and right thoracic scoliosis. We diagnosed Klippel-Trenaunay-Weber syndrome based on the pathological findings of the soft tumor. Computed tomography (CT) scan revealed severe spinal stenosis due to a hypertrophic vertebral body and facet joint at T7. Treatment by decompression of hypertrophic bone led to complete neurological recovery. To our knowledge, no case has been reported of Klippel-Trenaunay-Weber syndrome with myelopathy which originated from thoracic scoliosis with a hypertrophic facet joint and vertebral body. We suggest that the cause of myelopathy in Klippel-Trenaunay-Weber syndrome originated not only from arteriovenous fistula, medullary angioma, and extradural hemangioma but also vertebral hypertrophy with scoliosis.     

Alteration of histological gastritis after cure of Helicobacter pylori infection

BACKGROUND: It is still disputed whether gastric atrophy or intestinal metaplasia improves after the cure of Helicobacter pylori infection. AIM: To clarify the histological changes after the cure of H. pylori infection through a literature survey. METHODS: Fifty-one selected reports from 1066 relevant articles were reviewed. The extracted data were pooled according to histological parameters of gastritis based on the (updated) Sydney system. RESULTS: Activity improved more rapidly than inflammation. Eleven of 25 reports described significant improvement of atrophy. Atrophy was not improved in one of four studies with a large sample size (> 100 samples) and in two of five studies with a long follow-up period (> 12 months), suggesting that disagreement between the studies was not totally due to sample size or follow-up period. Methodological flaws, such as patient selection, and statistical analysis based on the assumption that atrophy improves continuously and generally in all patients might be responsible for the inconsistent results. Four of 28 studies described significant improvement of intestinal metaplasia [corrected]. CONCLUSIONS: Activity and inflammation were improved after the cure of H. pylori infection. Atrophy did not improve generally among all patients, but improved in certain patients. Improvement of intestinal metaplasia was difficult to analyse due to methodological problems including statistical power.     

Ependymal cell reactions in spinal cord segments after compression injury in adult rat

Recently, it has been suggested that neural stem cells and neural progenitor cells exist in the ependyma that forms the central canal of the spinal cord. In this study, we produced various degrees of thoracic cord injury in adult rats using an NYU-weight-drop device, assessed the degree of recovery of lower limb motor function based on a locomotor rating scale, and analyzed the kinetics of ependymal cell proliferation and differentiation by proliferating cell nuclear antigen (PCNA), nestin, glial fibrillary acidic protein (GFAP), or GAP-43 immunostaining. The results showed that the time course of the ependymal cell proliferation and differentiation reactions differed according to the severity of injury, and that the responses occurred not only in the neighborhood of the injury but in the entire spinal cord. An increase in the locomotor rating score was related to an increase in the number of PCNA-positive cells, and the differentiation of ependymal cells into reactive astrocytes was involved in injury repair. No apoptotic cells in the ependyma were detectable by the TUNEL method. These results indicate that the ependymal cells of the spinal central canal are themselves multipotent, can divide and proliferate according to the severity of injury, and differentiate into reactive astrocytes within the ependyma without undergoing apoptosis or cell death.     

Solute-free versus electrolyte-free water clearance in the analysis of osmoregulation

Reduced bone mineral density (BMD) and an increased risk of vertebral fracture have been reported in calcium-stone-forming (CSF) patients presenting with idiopathic hypercalciuria. We investigated the association between BsmI vitamin D receptor (VDR) polymorphism and BMD in 68 hypercalciuric CSF patients (35 males and 33 premenopausal females, mean age +/- SD = 39 +/- 10 years). BMD was measured at lumbar spine (L2-L4) and femur neck sites using dual energy X-ray absorptiometry. A 72-hour dietary record and a 24-hour urine sample were obtained from each patient to determine calcium intake and excretion. The allelic frequency found for the sample as a whole was 16% BB, 44% Bb and 40% bb. Mean BMD values did not significantly differ among BB, Bb and bb patients at L2-L4 (1.162 +/- 0.10, 1.133 +/- 0.11 and 1.194 +/- 0.19 g/cm2, mean +/- SD, respectively) or at neck sites (0.920 +/- 0.11, 0.931 +/- 0.15 and 0.982 +/- 0.15 g/cm2, respectively). Calcium intake and excretion were also not significantly different among the three genotypes. Patients were then divided into two groups, normal BMD, T-score > or =-1 (n = 34) and low BMD, T-score <-1 (n = 34), to further evaluate the allele influence on previous bone loss. Despite a trend for a higher mean BMD at spine or neck sites for patients with one or two b alleles when compared to BB patients, the difference did not reach statistical significance. The distribution of BB, Bb and bb genotypes in the low-bone-mass group (15, 47 and 38%, respectively) was similar to that in the normal-bone-mass group (18, 41 and 14%, respectively). These data suggest that BsmI VDR polymorphism does not play an important role in the bone loss seen in hypercalciuric CSF patients.     

Responses of hepatic glucose output to noxious mechanical stimulation of the skin in anaesthetised rats

Responses of hepatic glucose output (HGO) to noxious mechanical stimulation of different skin areas were investigated in anaesthetised rats with central nervous system intact or acutely spinalized at the thoracic 1-2 (T1-T2) level by focusing on the involvement of the sympathetic and parasympathetic nerves in the responses of HGO. We measured HGO with a microdialysis probe implanted into the left lateral lobe of the liver. Pinching was applied to bilateral skin areas of the abdomen and hindlimb for 10 min. Atropine was injected in order to block the action of the parasympathetic nerves, whereas phentolamine and propranolol were injected in order to block the action of the sympathetic nerves. The HGO started to increase immediately after the cessation of pinching of the abdomen and the hindlimb, and lasted for 30 min. The increase of HGO was observed during stimulus period in animals pretreated with atropine, and totally abolished in animals pretreated with phentolamine and propranolol. The responses of HGO to abdominal pinching, but not to hindlimb pinching, remained after spinal cord transection at the T1-T2 level. The present results suggest that HGO is regulated as a reflex response via both sympathetic and parasympathetic nerves by noxious mechanical stimulation of the skin. Furthermore, it was shown that relative contribution of the spinal and supraspinal organization to the somato-HGO responses was dependent on the skin areas stimulated.     

Transportation for a pediatric heart transplant candidate to Germany

A 8-year-old girl who underwent a total cavopulmonary connection as an one-staged repair for tricuspid atresia (Ic) had had a progressive dilated cardiomyopathy. Despite of any medical support, her left ventricular ejection fraction had been ranged from 10% to 20% since 4 months after Fontan operation. This patient was decided to apply for a heart transplantation in Germany 17 months after Fontan operation. An administration of the sufficient amount of inotropics and oxygen, volume resuscitation, reduction of the peripheral circulation at the time of take-off, and a meticulous monitoring may contribute to the successful transportation of the critically ill patient.     

The role of plasma endothelin in the Fontan circulation

BACKGROUND: Various vasoactive substances are released during cardiopulmonary bypass. They may deteriorate pulmonary circulation after the Fontan operation. Effects of plasma endothelin-1 (ET-1), a vasoconstricting peptide, on the Fontan circulation have not been investigated. METHODS: Eleven patients (aged 11.1+/-7.5 years) who underwent the modified Fontan operation (group F) and seven patients (aged 9.9+/-6.0 years) who underwent the biventricular repair (group C) were studied. Plasma samples were obtained for measuring ET-1 on the first postoperative day (Early I), on returning to floor care from the intensive care unit (Early II), and during postoperative cardiac catheterization (Late). RESULTS: Plasma concentrations of ET-1 increased in group F (Early I, 4.37+/-1.78 pg/ml; Early II, 4.07+/-1.90 pg/ml) as compared with the basal value of 1.0+/-0.5 pg/ml. The central venous pressure, which reflects the pulmonary circulatory state, soon after the Fontan operation correlated significantly with the increased ET-1 concentration (y=1.809 x+6.484; r=0.809; p=0.0026). Although the Late ET-1 concentrations in group F were significantly decreased, the central venous pressure and the ET-1 concentrations demonstrated a significant correlation (y=3.074 x +5.427; r=0.740; p=0.0227). CONCLUSIONS: The increased humoral vasoactive substances such as ET-1, which induces pulmonary vasoconstriction following the Fontan operation, may have important implications for the Fontan circulation.