Kabuki make-up syndrome associated with West syndrome

A Japanese boy with Kabuki make-up syndrome associated with West syndrome is reported. He developed periodic tonic spasms at 6 months of age while his electro-encephalogram also revealed hypsarrhythmia. Although only a few previously reported cases of Kabuki make-up syndrome have been associated with epilepsy, it is likely that epileptic seizures are another primary feature of Kabuki make-up syndrome.     

Colonoscopic classification of internal hemorrhoids: Usefulness in endoscopic band ligation

Background:  Bleeding is one of the main symptoms of internal hemorrhoids. However, the conventional Goligher's classification of internal hemorrhoids does not consider the severity of bleeding. We intended to establish a useful method for evaluating internal hemorrhoids using a colonoscope that reflected the severity of the symptoms.
Methods:  Using a colonoscope in the retroflexed and forward viewing position, 104 patients with symptomatic internal hemorrhoids were evaluated based on the criteria of range, form and red color signs (RCS). Range was determined by the circumferential distribution of internal hemorrhoids and scaled from 0 to 4. Form was determined by size and scaled from 0 to 2. The presence of RCS was also evaluated. Symptoms were determined by interview and scaled from 0 to 3. Patients were treated by endoscopic band ligation (EBL) and were examined endoscopically before and 4 weeks after the treatment.
Results:  Before the treatment, range, form and RCS were significantly correlated to bleeding ( P <  0.01), and form was significantly correlated to prolapse ( P <  0.05). The endoscopic classification scores at 4 weeks after EBL improved significantly (range from 3.25 ± 0.05–0.56 ± 0.08 [ P <  0.01] and form from 2.81 ± 0.04–0.56 ± 0.07 P <  0.01).
Conclusion:  The new endoscopic classification of internal hemorrhoids proved to be closely correlated to symptoms, particularly bleeding, and thus highly useful in evaluating the effectiveness of the treatment.     

Carnitine depletion during total parenteral nutrition despite oral L-carnitine supplementation

Carnitine (CAR) plays an important role in the β-oxidation of fatty acids. Less attention, however, has been paid to CAR compared to other nutrients even in total parenteral nutrition (TPN). To examine CAR metabolism during TPN and the effect of simultaneous oral L-CAR supplementation on CAR levels, the blood CAR level was measured in a 3-year-old boy receiving long-term TPN because of short bowel syndrome. Both the total and acyl CAR in the serum were evaluated under various nutritional conditions including oral supplementation of L-CAR. Low CAR concentrations were observed especially when lipid containing TPN regimens were in place. Oral L-CAR supplementation was not sufficient to restore the low CAR levels in the present index patient even when the dose was increased to 120 mg/kg in accordance with the result of the L-CAR absorption test that revealed poor intestinal absorption of this nutrient. Moreover, a markedly low CAR level was measured during the onset of sepsis in the patient, and the blood CAR was depleted when lipid metabolism was activated by lipid loading or sepsis. To date, the late effects of CAR depletion on child growth have not been well examined. It is recommended that the blood CAR level be maintained at normal levels before any prominent manifestations of the deficiency have developed. The intravenous administration of CAR appears to be necessary to supply a sufficient amount of CAR for patients with severe malabsorption.     

Role of actin and calmodulin in migration and proliferation of rabbit gastric mucosal cells in culture

Abstract The aim of this study was to develop a new cellular restoration model using primary cultured rabbit gastric mucosal cells, and to evaluate the role of cytoskeleton and calmodulin in this process. Confluent monolayer mucosal cell sheets consisting mainly of mucous cells were wounded, and a rotating silicon tip was used to make cell-free areas of constant size. The process of restoration was monitored, and the cell-free area was measured and analysed quantitatively.
Artificial wounds recovered in 36 h in controls; however, mucosal cell repair was inhibited by treatment with the actin inhibitor, cytochalasin B, and the calmodulin inhibitor, W-7. In the process of restoration, bromodeoxyuridine (BrdU)-positive cells appeared around the wound 24 h after injury and then disappeared after the complete repair. Because BrdU-positive cells were never detected within 24 h after wounding, initial recovery of the wound occurred only by cell migration. Both the migration and the proliferation stage are seen with this model. This culture model is suitable for the analysis of gastric mucosal restoration. Present data are consistent with the hypothesis that the integrity of the cytoskeletal system is important for restoration after damage of the gastric mucosa.     

Flow cytometric analysis of homologous restriction factor 20KD (HRF20) expression on progeny cells during differentiation from haemopoietic progenitors in paroxysmal nocturnal haemoglobinuria

Summary. Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired clonal disorder with a deficiency of glycosyl-phosphatidylinositol (GPI) anchored proteins. Homologous restriction factor 20KD (HRF20, CD59) is a GPI-anchored and major complement-regulatory protein which plays a key role in the haemolytic mechanism of PNH. We examined the differentiation stage at which the PNH abnormality occurs, by means of flow cytometric analysis of HRF20 expression. Non-phagocytic mononuclear marrow cells were labelled with anti-HRF20 monoclonal antibody and sorted into either HRF20-negative or -positive fractions. The sorted cells were cultured in methylcellulose and their progeny in the colonies or bursts were analysed for HRF20 expression. All colonies and bursts from HRF20-negative fractions remained negative, whereas those from HRF20-positive fractions were either positive or negative. The possibility of a sorting error was excluded, because the secondary colonies from the HRF20 positive primary colonies consisted of both positive and negative progeny. These results suggest that there are several stages during differentiation from early progenitors to mature cells, at which the PNH abnormality becomes manifest.     

栝楼种子中不皂化类脂的化学成分研究

目的 :研究栝楼种子中不皂化类脂的化学成分 ,为制定中药瓜萎和瓜蒌子的质量标准奠定基础。方法 :乙醚提取脂肪油 ,氢氧化钾进行皂化反应 ,对不皂化类脂进行硅胶柱层色谱分离和纯化 ,用IR ,MS ,1 H NMR ,1 3C NMR等光谱技术和标准品对照等方法鉴定化合物的结构。结果 :鉴定了 7个化合物 ,即 :10α 葫芦二烯醇 (Ⅰ )、栝楼仁二醇 (Ⅱ )、异栝楼仁二醇 (Ⅲ )、7 氧代二氢栝楼仁二醇 (Ⅳ )、豆甾 7 烯 3β 醇 (Ⅴ )、豆甾 7,2 2 二烯 3β 醇 (Ⅵ )、豆甾 7,2 2 二烯 3 O β D 葡萄糖苷 (Ⅶ )。 结论 :前 4个化合物均为国内首次分离获得。     

Stromal invasion of the prostate following a complete response to bacillus Calmette-Guerin instillation therapy for carcinoma in situ of the ureter and the bladder

Bacillus Calmette-Guerin (BCG) instillation therapy is now a standard therapy for high-risk superficial bladder cancer patients. Although the complete response rate is approximately 70%, extra-vesical progression is sometimes observed. In particular, those patients who present a positive urinary cytology even after complete response from bladder lesion should be thoroughly examined. We present two cases of stromal invasion of the prostate after complete remission by BCG therapy of carcinoma in situ of the ureter and bladder found by transrectal prostate biopsy.     

栝楼种子中不皂化类脂的化学成分研究

 1.中国中医研究院中药研究所,北京 100700;2.日本大学理工学部) 目的 研究栝楼种子中不皂化类脂的化学成分,为制定中药瓜蒌和瓜蒌子的质量标准奠定基础。方法 乙醚提取脂肪油,氢氧化钾进行皂化反应,对不皂化类脂进行硅胶柱层色谱分离和纯化,用IR,MS,¹H-NMR¹³C-NMR等光谱技术和标准品对照等方法鉴定化合物的结构。结果 鉴定了7个化合物,即：10α-葫芦二烯醇(Ⅰ)、栝楼仁二醇(Ⅱ)、异栝楼仁二醇(Ⅲ)、7-氧代二氢栝楼仁二醇(Ⅳ)、豆甾-7-烯-3-β-醇(Ⅴ)、豆甾-7,22-二烯-3-β-醇(Ⅵ)、豆甾-7,22-二烯-3-O-β-D-葡萄糖苷(Ⅶ)。结论 前4个化合物均为国内首次分离获得。