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We have been conducting a survey on the birth prevalence of orofacial clefts, including cleft lip with or without cleft palate and cleft palate, in the Tokai area in central Japan every year for 37 years. Along with the yearly trends in the birth prevalence of orofacial clefts in that area for the past 37 years, we discuss whether the artificial abortion rate of fetuses with orofacial clefts has increased through the improved performance of ultrasonic imaging equipment. We also compare the yearly trends in the birth prevalence of congenital anomalies, including orofacial clefts, in Japan with those in other countries or areas where artificial abortion due to birth defects is legally permitted, and discuss the impact of improved accuracy of ultrasound imaging on the rate of artificial termination of pregnancy. The fact that the birth prevalence of orofacial clefts has basically remained unchanged for more than 30 years, even with recent more detailed prenatal diagnosis based on the improvement of ultrasonic diagnostic equipment, has allowed us tentatively to conclude that prenatal diagnosis is not currently threatening the right to life of the fetuses with orofacial clefts. This article is protected by copyright. All rights reserved.

Aims Dozens of causative genes and their mechanisms of nonsyndromic cleft lip with or without cleft palate (NSCL/P) were revealed through genome‐wide association and linkage studies. Results were, however, not always replicated in different populations or methodologies. This study used case–control and family based approaches to investigate the etiology of NSCL/P and its two subtypes: nonsyndromic cleft lip only (NSCLO) and nonsyndromic cleft lip and palate (NSCLP) among the Vietnamese population. Methods Two hundred and seventeen NSCL/P case‐parent trios (one affected child and two parents), including 105 NSCLO and 112 NSCLP were involved for a family based design; and 273 ethnic and region‐matched healthy controls with no cleft history in their families were recruited for a case–control design. Three SNPs consisting of TFAP2A (rs1675414 and rs303048) and 8q24 (rs987525) were genotyped using the TaqMan SNP genotyping assay. Results TFAP2A rs1675414 was associated with NSCLO, replicated by both case‐control and family based tests. Other SNPs yielded no evidence of susceptibility to NSCL/P or two subtypes. Conclusion The current investigation suggests an intriguing role of TFAP2A in the etiology of NSCLO among the Vietnamese population., This study used case‐control and family‐based approaches to investigate the etiology of NSCL/P and its two subtypes: nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft lip and palate (NSCLP) among Vietnamese population. TFAP2A rs1675414 was associated with NSCLO, replicated by both case‐control and family‐based tests.

Following recent genome wide association studies (GWAS), significant genetic associations have been identified for several genes with nonsyndromic cleft lip with or without cleft palate (CL(P)). To replicate two of these GWAS signals, we investigated the role of common and rare variants in the PAX7 and VAX1 genes. TaqMan genotyping was carried out for SNPs in VAX1 and PAX7 and transmission disequilibrium test (TDT) was performed to test for linkage and association in each population. Direct sequencing in and around the PAX7 and VAX1 genes in 1,326 individuals of European and Asian ancestry was done. The TDT analysis showed strong associations with markers in VAX1 (rs7078160, P = 2.7E-06 and rs475202, P = 0.0002) in a combined sample of Mongolian and Japanese CL(P) case-parent triads. Analyses using parent-of-origin effects showed significant excess transmission of the minor allele from both parents with the effect in the mothers (P = 6.5E-05, OR (transmission) = 1.91) more striking than in the fathers (P = 0.004, OR (transmission) = 1.67) for VAX1 marker rs7078160 in the combined Mongolian and Japanese samples when all cleft types were combined. The rs6659735 trinucleotide marker in PAX7 was significantly associated with all the US cleft groups combined (P = 0.007 in all clefts and P = 0.02 in CL(P)). Eight rare missense mutations found in PAX7 and two rare missense mutations in VAX1. Our study replicated previous GWAS findings for markers in VAX1 in the Asian population, and identified rare variants in PAX7 and VAX1 that may contribute to the etiology of CL(P). Determining the role of rare variants clearly warrants further investigation.

本研究の目的は，腫瘍切除による上顎欠損患者の発話の特徴と，顎義歯の効果を明らかにすることである．腫瘍切除後上顎欠損を生じ，顎義歯を作製した9名に，開鼻声，構音検査，ブローイング検査，発語明瞭度検査を実施した．顎義歯非装着時は，無声破裂子音は摩擦音へ，有声子音は通鼻音へ異聴される傾向が見られた．この理由として，上顎欠損により呼気鼻漏出量が増加し，安定した構音位置が確保されないことが考えられた．開鼻声，構音，ブローイング検査時の呼気鼻漏出量，発語明瞭度とも顎義歯装着により改善された．顎義歯装着後，構音が改善されたことから，顎義歯が上顎欠損症例の構音障害の治療に効果があることが示された．

Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oris muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts. Furthermore, we suggest a role for BMP4 in wound healing.

We describe our experience with a case of visual impairment caused by an orbital abscess due to an acute odontogenic maxillary sinus infection in a 31-year-old man. After the treatment of a periapical lesion of the left upper second premolar at a dental clinic, infection progressed to an orbital abscess. He was referred to our hospital by an ophthalmologic clinic.We administered antibiotics, performed maxillary sinus osteotomy, incised the upper and lower eyelids, and extracted the infected tooth to allow pus drainage and irrigation. His condition improved after treatment, but at presentation he had already lost the visual acuity of his left eye. We would like to stress the importance of hospital-clinic coordination and a team approach to medical treatment.

Genetic disposition and environmental factors are closely related to the occurrence of ulcerative colitis (UC). The HLA haplotypes of major histocompatibility complex (MHC) Class II are considered to be the most important genetic factors in UC. The current report focuses on the genetic human leukocyte antigen (HLA) of a family in which UC crises have occurred in five of six members with identical MHC Class II haplotypes. Haplotypes A24/26 (A24/-), BW4/6 (BW4/-) and DQ1/3 (DQ1/-) were found in all six members of the family. In DNA typing, characteristic loci common to this family were seen in DRB11502 and DQB10601. From the genetic investigation of this family, we concluded that HLA haplotypes are the most important genetic factors in the occurrence of UC.

Acute intermittent porphyria (AIP) is a hereditary metabolic disease with a mortality rate of still 25% when clinical symptoms develop.We described our experience with extraction of an upper impacted wisdom tooth in a patient with AIP.The patient was a 35-year-old woman in whom AIP developed after celiotomy. Her condition deteriorated, and she became bedridden and was receiving rehabilitation. She had trismus due to pericoronitis of an upper wisdom tooth. We used safe antibiotics and performed an operation. To avoid stress, the patient was sedated with morphine and nitrous oxide and was sufficiently desensitized to pain with propitocaine. The prognosis was good.Clinical symptoms of AIP are often caused by agents such as carbamazepine, sulfa drugs, and lidocaine, which are used in clinical oral surgery. When surgery for treatment is done in patients with AIP, it is necessary to avoid stress, use safe drugs, sufficiently desensitize the patient to pain, and cooperate closely with other medical departments.

Background: In a previous paper, the stereographic reconstruction of the crypt structure of ulcerative colitis using the RATOCK System was described. The relationship between the blood vessels and the crypt structure is the focus of the current paper, using two kinds of tissue staining color in which the color differs. Stereographic images make the relationship between the crypt structure and blood vessel distribution understandable at a glance. Methods: The methods used here are identical to those described in a previous paper. In the present paper, five cases of ulcerative colitis (UC) are examined. Biopsy specimens were obtained from the diseased, normal, and transitional zones (the area between the normal and diseased zones) from each patient. Three-dimensional reconstruction was created using TRI for Windows (RATOC System Tokyo, Japan) software. In the present paper, two kinds of dyeing method between H&E and monoclonal antibody staining of the tissue was used. It was proven that the distribution of gland and blood vessel is very clear in the 3-D reconstruction shown. Results: (i) The blood vessels in the normal zones run parallel to the crypt in a regular manner and are almost identical to one another in diameter. (ii) In the transitional and diseased zones, the blood vessels show no clear direction and produce many branches without any apparent order. The blood vessels are, moreover, irregular in diameter. (iii) In short, clear parallelism is lost in both the transitional and diseased zones. Conclusion: Stereographic reconstruction of endoscopically obtained biopsy specimens of UC-affected tissues makes it possible to understand at a glance the distribution of blood vessels and their relationship to crypts. The relationship of these was clarified by the combined use of two kinds of dyeing method with three-dimensional reconstruction.

Background: This paper describes the creation of 3-D computer graphic images of the mucosal crypt of ulcerative colitis (UC) and the resulting observations, which may have great significance to our understanding of the mechanisms involved in the progress of this disease. Methods: Endoscopic biopsy specimens of normal, diseased and transitional (the border area between normal and diseased) zones of the mucosa were taken from five different patients of various ages and at various periods in the progress of their diseases. Three-dimensional reconstruction of these specimens was perfomed using TRI for Windows (RATOC System Tokyo, Japan) as software. Results: Clear stereographic images exhibiting the structures of crypts, the effects and the progress of UC were obtained. It was seen that, (i) moving from normal to transitional and to diseased zones, the value for crypt volume and crypt surface area increased, but at a far lower rate than those representing the lumen volume and surface area, (ii) the numbers of crypts and crypt lumina decreased as inflammation became more severe and (iii) it is likely that there is a specific point (the intermediate portion of the crypt) which is attacked by inflammation in ulcerative colitis. Conclusion: This method, of stereographic analysis by computer, has opened a new door to the study of a whole range of inflammatory bowel diseases.

Although a breakpoint in the minor breakpoint cluster region (m-bcr) of the BCR gene is observed in about two-thirds of patients with Philadelphia chromosome-positive acute lymphoblastic leukemia, this type of genomic rearrangement occurs very rarely in chronic myeloid leukemia (CML). We describe here the eighth case of m-bcr CML, and delineate unique clinical characteristics found in common to the 7 cases reported previously. Monocytosis with a low neutrophil/monocyte ratio resembling chronic myelomonocytic leukemia was the most striking feature of m-bcr CML. Splenomegaly and basophilia were not conspicuous in chronic phase. A high percentage of immature granulocytes and low neutrophil alkaline phosphatase score were the findings in common with classical CML. Lymphoid and myeloid blast changes have been observed at and shortly after presentation so far. We found a hybrid type of blast crisis in the course of m-bcr CML.Thus, m-bcr CML may be a definite subtype of CML, exhibiting distinct clinical characteristics. The presence of fusion product of m-bcr mRNA in an earlier myeloid cell may involve monocytic lineage in addition to myeloproliferative defects.

Previous reports have stressed the association between autoimmune disease and lympho-proliferative neoplasm. Here we report a patient in whom multiple myeloma developed about 30 years after the onset of rheumatoid arthritis. A 79 year-old woman with an about 30-year history of rheumatoid arthritis was admitted because of lumbago in December, 1993. Laboratory findings revealed M-proteinemia (IgA 2,380 mg/dl, IgG 728 mg/dl, IgM 51 mg/dl) and serum immunoelectrophoresis showed monoclonal IgA with lambda type light chain. Bone marrow aspirate contained 66.0% plasma cells. Serological tests of rheumatoid factor were positive. X-ray findings revealed radiolucent myelomatous foci in the skull and typical destructive changes of rheumatoid arthritis in multiple joint. From these findings, IgA lambda-type multiple myeloma with rheumatoid arthritis was diagnosed. Although the pathogenesis of the association between rheumatoid arthritis and multiple myeloma is unknown, prolonged antigenic stimulation manifested by rheumatoid arthritis is considered to be a possible pathogenetic factor in the development of multiple myeloma.

大腸粘膜における局所の免疫反応時のmucus release (粘液放出)について検討した.先に著者らは,経直腸的にBSA (bovine serum albumin)による免疫を繰り返した後,免疫対応または非対応抗原で経直腸的challengeを行った場合,ラットの正常大腸の免疫反応に際して,大腸goblet cellmucus (杯細胞粘液)の放出の増加はみられず,正常粘膜では小腸と大腸の局所的抗原抗体反応に差異があることを報告した.今回は,免疫前に経直腸的にホルマリン注入による粘膜障害を行い,腸管粘膜の破綻を来した場合の大腸の局所免疫反応に際して,粘液放出現象の動態について検討を行った.その結果,大腸の粘膜障害時には,大腸局所で抗原抗体反応に依存してmucus releaseの増加がみられ, mucosal barrierを破る機序さえ働けば,局所免疫反応によるmucus releaseが増加することが判明した.

We describe a patient with malignant histlocytosis whose serum contained an autoantlbody against platelet protein. The patient was admitted because of nasal bleeding and high-grade fever. The clinical course was fulminantly progressive and terminated with cerebral hemorrhage. Bone marrow aspirate showed the proliferation of large atypical cells, some of which exhibited phagocytic activity. At postmortem examination, there was diffuse infiltration of these atypical cells In the liver, spleen, kidney, and bone marrow. Morphological, cytochemlcal, immunohistochemlcal, and genotypic characteristics suggested that the proliferating cells were derived from the monocyte-rnacrophage system. Western blot analysis revealed the presence of autoantibody against an ∼88 kd molecule of platelet proteins. Although the relationship of cause and effect remains to be clarified, this autoantibody appeared to have stimulated thrombophagocytosls of the neoplastic cells. © 1994 Wiley-Liss, Inc.

大腸粘膜における局所の免疫反応時のmucus release (粘液放出)について検討した.小腸を場とした抗原抗体反応では,経十二指腸的に動物に抗原を投与し,同一抗原でchallengeしたときに, mucus releaseが正常小腸で増加するというLake A, M.,らの報告がある.これに対して著者らは,ラットの正常大腸粘膜に経直腸的にBSA (bovine serum albumine)による免疫を繰り返した後,免疫対応または非対応抗原で経直腸的challengeを行い,抗原抗体反応によるmucus releaseについて検討した.その結果,小腸と異なり正常大腸では局所免疫で, mucus releaseの増加は対照と差がみられず,正常粘膜では小腸と大腸の局所的抗原抗体反応に差異があることが判明した.

Actinomycosis is a specific type of inflammation that has become rare since the advent of antibiotics. We report a case of cheek actinomycosis caused byActinomyces meyeri (A. meyeri), which we encountered recently.A 52-year-old man was carried by ambulance to our department because of left cheek swelling, pain, and poor general condition. After a computed tomographic scan, surgical drainage was performed. OnlyA. meyeriwas isolated from the pus. After isolation, high-dose penicillin G therapy (8 million units/day for 17 days intravenously and 6.4 million units/day for the following 4 weeks by orally) was given. Cure was achieved without any granulomatous lesions.

Peters anomaly involves a major error in the embryonic development of the eye, associated with corneal clouding and variable iridolenticulocorneal adhesions. Short limb dwarfism and a pathognomonic face (thin upper lip, hypoplastic columella, round face, and micrognathia) occur as complications of Peters anomaly. Cleft lip and palate have also been reported as a complication of Peters anomaly.Here, we describe a case of Peters anomaly with cleft palate.

Van der Woude syndrome (VWS) is a common autosomal dominant disorder with cleft lip and/or palate and lower lip pits. Its prevalence is estimated to be 1/33,600 in the Finnish Population, and 1/47,813 in the Japanese. We performed mutation analysis of the IRF6 gene by direct sequencing in 2 unrelated Japanese families that consist of a total of 3 affected members with cleft lip and palate associated with lower lip pits. Consequently, we found novel base substitutions, 25C > T, in IRF6–exon 3 in a boy, his mother, and his phenotypically normal maternal grandmother in one of the families. A known mutation, 250C > T, was identified in exon 4 of a girl and her unaffected father in the other family. The same mutations were never observed among 190 healthy Japanese. The results indicate incomplete penetrance and variable expressivity in the families. Because 25C > T and 250C > T predict to lead to R9W and R84C substitutions, respectively, at the most conserved DNA binding domain of IRF6, and because arginine at positions 9 and 84 is highly conserved among IRFs, the 2 mutations may lead to abolish the DNA binding activity in the developing craniofacial region. To our knowledge, this is the first report of IRF6 mutations observed in Japanese VWS patients.

Chronic myeloid leukemia in a 61-year-old man progressed into the accelerated phase 8 months after the initial evaluation (Ph chromosome [20/20], FISH 93.5%), although the major cytogenetic response (Ph chromosome [0/20], FISH 9.7%) had been achieved 6 months after the initiation of the treatment with interferon and hydroxyurea. The Peripheral blood stem cells (Ph chromosome [0/20], FISH 5.8%, PCR 2.7 x 10(2) copies/microgram RNA) were harvested simultaneously with the attempt to induce the second chronic phase using the mini-ICE (idarubicin, cytosine arabinoside and etoposide) therapy. However, 2 months later, the disease progressed into blast crisis with the additional chromosomal abnormalities, and did not respond to the re-induction therapy with idarubicin and cytosine arabinoside. Autologous stem cell transplantation was then performed using the preparatory regimen with busulfan and cyclophosphamide. The third chronic phase was successfully achieved, and has been well maintained with imatinib for more than 13 months (Ph chromosome [0/20], FISH 0.0%, PCR10(2) copies/microgram RNA). This may be a rare case in which normal hematopoietic stem cells could be enriched in the peripheral blood in the accelerated phase, and that cytogenetic remission was achieved using these cells in the blast crisis. Flexible use of peripheral blood stem cells and imatinib could be an additional strategy for the better treatment of chronic myeloid leukemia.

症例は78歳男性,全身に多数の水疱,びらんを認め水疱性類天疱瘡(bullous pemphigoid: BP)と診断された.血清IgG 3,870mg/dl, γG 45.6%と高値であった.剖検で左肺に未分化型大細胞癌を認め,血中G-CSFは2,680pg/mlと著明に高値を示した.肺癌はG-CSF染色で陽性であり, G-CSF産生肺癌と診断した.間接蛍光抗体法では皮膚基底膜にIgGの沈着を認め,さらに肺癌はIgG染色で陽性であった. BPと肺癌の関連性を考えるうえで興味ある症例と考え報告した.

There have been many reports on congenital anomalies associated with cleft lip and/or palate (CL/CLP) in Japan. However, these reports included data only on patients who came to hospitals; thus the real situation regarding these anomalies remains unclear. Therefore, we surveyed newborns at all delivery facilities in the central area of Japan for the presence of these anomalies, following their progress for 12 consecutive years; at the end of that time, questionnaires were collected and analyzed. In this article, we describe our results.

BACKGROUND The recent recognition of the association of Epstein-Barr virus (EBV) with T-cell/natural killer cell (T/NK-cell) lymphoma has documented that particular types of EBV-containing T/NK-cell lymphoma are frequently complicated by hemophagocytic syndrome (HPS). This observation suggests that both EBV and proliferating T/NK-lymphoma cells play significant roles in the development of HPS. Cytokines released from neoplastic T cells are presumed to account for the activation of macrophages, which is followed by a complex cascade of cytokine production, resulting in full-blown HPS. Five patients with B-cell lymphoma complicated by HPS were studied for elevated serum cytokines, the association of EBV, and CD25 expression of lymphoma cells; the aim of this study was to verify whether the mechanisms of HPS development hypothesized for T/NK-cell lymphoma also operate in B-cell lymphoma. METHODS Sera were analyzed for the presence of inflammatory and immunoregulatory cytokines. Flow cytometry, immunohistology (IH), in situ hybridization (ISH), polymerase chain reaction (PCR), and Southern blot analysis were performed using bone marrow aspirates, biopsy specimens, and autopsy specimens. RESULTS Immunophenotypic and Southern blot studies verified that the lymphoma cells of all five patients were of B-cell lineage. Bone marrow aspirates demonstrated histiocytosis with extensive hemophagocytic activity. Marked elevation of serum cytokines and expression of CD25 were observed in all five patients. However, the results of PCR, ISH using EBER1 probe, and IH for latent membrane protein indicated that these lymphoma cells were free of EBV infection. CONCLUSIONS In patients with B-cell lymphoma, EBV infection is not necessarily required for the initiation of HPS. In this article, the pathogenesis of HPS assumed to be operative in B-cell lymphoma is discussed with reference to T/NK-cell lymphoma complicated by HPS. Cancer 1998;82:1963-72. © 1998 American Cancer Society.

We report the successful management of cerebral vasculitis in a 46-year-old woman with longstanding rheumatoid arthritis with low-dose methotrexate. She suddenly developed dysarthria and left hemiparesis. Magnetic resonance imaging disclosed ischemia of the right pons, and angiography demonstrated cerebral vasculitis of vertebro-basilar arteries. The vasculitis was refractory with high-dose steroid therapy, which had only transient clinical benefit, and evolution to the pontine infarction followed. Her clinical status showed marked improvement in association with recovery of the vascular abnormalities after the initiation of the methotrexate therapy.

While various infectious agents have been reported to induce hemophagocytic syndrome (HPS), protozoan malaria-associated HPS has not been documented. We describe a patient with Plasmodium falciparum malaria complicated by HPS. A 24-year old man with a history of recent travel in tropical areas was hospitalized with high fever and hepatosplenomegaly. Blood smear showed many of the erythrocytes infected with the ring form of P. falciparum. Laboratory data disclosed bicytopenia with coagulopathy, a high serum level of LDH, hyperferritinemia and hypercytokinemia. Bone marrow smear demonstrated proliferation of mature histiocytes with vivid hemophagocytosis. He was free from other active, disseminated viral, bacterial and fungal infections which have been reported to induce HPS. He recovered rapidly from HPS after resolution of the original malarial infection.

Our previous studies demonstrated both humoral and cell-mediated autoimmunity to the goblet cell of the colon to be recognized in ulcerative colitis. As one of the characteristics of this disease is ascending and continuous lesion that arises from the rectum to the oral parts of the colon, we consider that the boundary zone between the uninvolved and involved portion of the colon, in which an attack of immunocompetent cells to the goblet cell occurs and the mucosal defence is destroyed, has an important key to understand this disease. On the other hand, it has been reported that secretory component (SC) and IgA are important factors in the mucosal defence mechanism.In this paper, 11 patients-three with proctitis, six with left-sided colitis, and two with total colitis-were investigated as for the correlation of SC, IgA, and goblet cell mucus in the colonic mucosa. Biopsy specimens, which were obtained from uninvolved, involved portions, and boundary zones with colonofiberscope, were examined regarding their distribution with immunofluorescent staining technique.Both SC and IgA were decreased in distribution in mucosa of uninvolved portion and boundary zone, whereas goblet cell mucus was kept abundantly. And all of them were decreased in distribution in mucosa of involved lesion. So it seems that these three factors have an important relationship to each other in the colonic mucosal defence in ulcerative colitis.

Cefpiramide distribution in oral tissue and inflamed mouth floor of mice was examined by agar well method.After abdominal administration of Cefpriramide 200μg/g to the mice, the tissue concentration of serum reached d peak in 5 minutes, that of the mandibular bone, tongue, masseter, mouth floor, submandibular gland, and femur in 10 minutes. The tissues in order of concentration were the serum, mouth floor, tongue, submandibular gland, mandibular bone, masseter and femur.After abdominal administration of Cefpiramide 200μg/g to the mice whose mouth floor had been inflamed, the concentration of the inflamed mouth floor reached a peak in 10 minutes. Compared with the normal mouth floor, Cefpiramide was distributed in a low position in inflamed mouth floor, but it seems likely that the maintenance of the concentration is good because of the high distribution in 60 minutes after the administration.

Pyroglobulinemiaを伴うIgD-λ型骨髄腫の希有な1症例を報告する.患者は70才,男性.腰痛と大量の下血を主訴に入院となつた.検索の結果,直腸S状結腸の非特異的びまん性出血性炎症像に加え,汎血球減少,血沈高度亢進,骨のPmched out lesion, IgD-λ型M蛋白血症,骨髄の著明な骨髄腫細胞の増殖などが認められ,多発性骨髄腫と診断した.本例の大量の下血には,腰痛時に頻用していたindomethacin坐薬の直接作用に加え,血小板減少および, M蛋白による血小板機能低下,凝固因子活性低下.線溶亢進などの関与が示唆された.血清非働化時発見されたpyroglobulinはIgDによるものであることが判明した.その熱凝固性,酸ゲル化反応は非常に緩和ではあるが, glycine, urea, guanidineなどにて熱凝固性が消失または抑制されることより,従来から報告されている定型的なIgG型pyroglobulinと類似の熱凝固化機序が示唆された.

本邦では遭遇する機会の少ないロシア系ユダヤ人の成人型Gaucher病を経験した.症例は46才男性. 6才時脾摘.全身倦怠感,黄疸にて入院.検査で肝障害著明.アンモニア値508μg/dlと著増.酸フォスファターゼ42.7Uと高値, IgM-HA抗体陽性.意識障害進行し死亡.剖検時の骨髄スタンプ標本でGaucher細胞を多数認めた.肝4700gと腫大し, Gaucher細胞が高度に増生していた.剖検肝の分析では,全脂質の増加あり,薄層クロマトグラフィーでglucocerebrosideが全脂質の87%と著増していた.また人工基質で測定したβ-glucosidase活性は15.4%と低下していた.したがって,本症例は, Gaucher病による肝障害にA型肝炎が合併し,肝不全にて死亡したと考えられた.

The distribution of binding sites for three lectins labeled with rhodamine was studied by using immunofluorescence microscopy in the colonic mucosa in ulcerative colitis.Binding sites for Dolichos biflorus agglutinin (DBA), a lectin specific to terminal α-N-acetylgalactosamine residue, and soy bean agglutinin (SBA), specific to teminal α or β-N-acetylgalactosamine residue of surface glycoprotein in the endoscopically uninvolved mucosa in ulcerative colitis were almost equal in distribution to those of normal human colon. These two lectins were markedly decreased in distribution in the endoscopically involved mucosa, whereas they were also decreased in the boundary zone which was considered as locating between the involved and the uninvolved portion. On the other hand, there was no definite difference in binding sites for concanavalin A (Con A), a lectin specific to terminal α-mannopyranoside, α-glucopyranoside, between normal colon and ulcerative colitis.These results suggest that a quantitative and/or qualitative alteration in the colonic mucin has an important role in the colonic mucosa in ulcerative colitis. And lectins may be developed into a powerful probe for the detection of biochemical change in the colonic mucosa in ulcerative colitis.

We used an immunofluorescence method to study the distribution of lactoferrin in the colonic mucosa in eight ulcerative colitis patients. Peroxidase staining was also examined simultaneously, and the distribution of peroxidase positive cells was compared with that of lactoferrin positive cells.Both lactoferrin positive cells and peroxidase positive cells were barely found in the endoscopically uninvolved mucosa and abundantly in the endoscopically involved mucosa, whereas they were moderately observed in the boundary zone which was considered as locating between the involved and the uninvolved portion. On the other hand, in four normal colons these cells were rarely found. It was also intensely indicated that peroxidase positive cells were to be neutrophils by using Giemsa staining.Lactoferrin is a strong iron-binding glycoprotein that has been detected in secretions that bathe human mucosal tissues, in vitro studies has been showed that it has both bacteriostatic and bactericidal effects. Meanwhile, our previous studies have demonstrated that s-IgA system decreases in distribution in the colonic mucosa in ulcerative colitis. Accordingly, these results suggest that lactoferrin appears and/or increases in compensation for s-IgA system in the colonic mucosa in ulcerative clitis, and it has a significant role in the mucosal defense for bacterial infection.

The extremely rare IgD pyroglobulin caused opalescence, lost its antigenicity and acquired more negative charge when heated for 30 min at 56 degrees C. Exposure to 60 degrees C for 60 min produced a firm gel. The thermoprecipitability was abolished by the treatment with guanidine, urea and sodium dodecyl sulfate, but not by 2-mercaptoethanol or neuraminidase, and required the presence of both heavy and light chains. However, amino acid analysis showed abnormalities only in the heavy chain. We hypothesize that the irreversible heat-induced aggregation of IgD pyroglobulin is the result of a conformational change, triggered by light chain, which increases the molecular hydrophobicity.

脈無し病の女子2例を経験し,その1例はmesoinositol hexanicotinate (Hexanicit), predni-solone,抗凝固薬の投与により症状の改善を認めた.他の1例は胸部大動脈瘤,腹部大動脈縮窄,左腎動脈狭窄を合併し,左腎生検の結果,juxtaglomerular cellの増殖が認められ,その高血圧が腎乏血によるものであることが推測された.本疾患は全身の比較的太い中枢の動脈を侵す慢性血管炎と考えられ,膠原病との関係が問題になるが,これら2例とも赤沈促進, CRP, RAT陽性, globulinとくにγ-giobulinの増加がみられた.しかし,LE現象, Coombs試験,ヒトの大動脈壁を抗原とする抗人グロブリン消費試験などはいずれも陰性であり,また血清の超遠心分析所見においてもmacrog1o-bulinの増加などの異常を認めなかつた.