A case with dicentric translocation between chromosome 9 and 18: Confirmation by fluorescent in situ hybridization on metaphase spread

A female child with dicentric translocation between chromosome 9 and chromosome 18 presented non-specific minor anomalies with laryngomalacia. Chromosomal analyses were performed by the G-banding method and a fluorescence in situ hybridization (FISH) technique with a specific probe for the centromeric region of chromosome 18 and the painting probe for the chromosomes 9 and 18. Her full karyotype was confirmed as 45, XX, tdic (9;18)(p24;p11). This is the first case of dicentric translocation between chromosomes 9 and 18. The FISH technique is an important tool in chromosome diagnostics.     

Reis-Bücklers角膜营养不良患者TGFBI基因突变

目的　探讨中国Reis Bücklers角膜营养不良患者的TGFBI基因的突变特征及其与临床表现的关系。方法　对于彼此无亲缘关系的两家系 10例患者及其家族中 2名正常成员进行基因分析。采取外周血 10ml,制备外周血白细胞基因组DNA,应用合成的特异性引物,聚合酶链反应(PCR)分别扩增TGFBI基因的第 4、12外显子,将基因产物进行直接测序,分析相应基因序列。结果两家系均呈现常染色体显性遗传。临床上表现为角膜上皮下及前弹力膜中细小的颗粒状混浊,随年龄增长而逐渐融合、扩大呈地图样外观,符合Reis Bücklers角膜营养不良地图型的诊断。基因序列分析呈现TGFBI基因第 124密码子第二个碱基G→T碱基点突变,导致精氨酸转变为亮氨酸(R124L)。结论　中国Reis Bücklers角膜营养不良患者两家系均呈现R124L基因突变,表现为Reis Bücklers角膜营养不良地图型改变。基因分析将为疾病的确诊提供可靠依据。     

Inflammatory esophagogastric polyp and fold in an adolescent

The case of a 13 year old boy with an inflammatory esophagogastric polyp and ulcerative colitis is described. Endoscopy revealed a typical polyp and gastric fold complex at the esophagogastric junction and a hiatal hernia. Histology of a biopsy specimen confirmed an inflammatory polyp covered by hyperplastic squamous and gastric foveolar epithelium. Continuous 24 hour esophageal manometry suggested gastroesophageal reflux, which may be related to the pathogenesis of the lesion. Follow-up endoscopy showed marked regression of the polyp with medication for reflux eosphagitis. This clinical entity is rare in childhood and adolescence, and the manifestations may not be readily recognized. Therefore, endoscopic biopsy is important in children with esophageal polyps. However, polypectomy is unnecessary except when malignancy is suspected or when symptoms persist.     

Acute childhood leukemia in a patient with hemophilia: First report in Japan

This study reports an unusual case of acute leukemia which was diagnosed as hemophilia A on initial admission for leukemia. A 3 year old boy was admitted to Kagoshima University Hospital with anemia. He was diagnosed as acute lymphoblastic leukemia. At the same time he was revealed to have severe hemophilia A⁻ without any previous episodes of severe bleeding tendency or family history of this disease. The laboratory investigation showed his mother to be a carrier of hemophilia A. Although there are many cases of hemophilia which have developed malignant tumors, most of them were caused by association with human immunodeficiency virus (HIV) infection. Only five cases with coexistence of leukemia and hemophilia without HIV infection have been reported and the present case is the first one in Japan. At this stage, hemophiliacs are not necessarily regarded to be a population at risk for the development of leukemia. Furthermore, no particular subtype of leukemia was characterized among these patients in the literature.     

Intraspinal Metastasis of Neuroblastoma -- Report of a Case Detected at Autopsy --

Metastasis to the brain or spinal cord parenchyma is extremelyrare in cases of neuroblastoma. We present a 3-year-7-month-old boy with neuroblastoma, stageIV, with intraspinal metastasis. He had no neurologic manifestationexcept incontinentia urinae and ataxia at the terminal stage.His cranial computed tomography scan showed high density areasin both cerebellar hemispheres which seemed to be distant metastaticmasses. At autopsy, the metastases in the cerebellum were foundto be due to dural infiltration but in the spinal cord parenchymaof the lumbar spine metastases were detected macroscopically.There were multiple distant metastatic areas near the roots,anterior and posterior. The neuroblastoma seemed to have spreadalong the roots by direct invasion from the meninges. In the future, the number of patients with metastasis into thebrain or spinal cord parenchyma will increase because patientswith progressive disease could live for a long time as a resultof intensive chemotherapy. Observation of these cases will behelpful to clarify the routes of metastasis to these areas.     

Efficacy and safety of laparoscopic surgery for pheochromocytoma

OBJECTIVE: Laparoscopic surgery for primary aldosteronoma and Cushing's syndrome is well established. We report on our experiences with laparoscopic adrenalectomy for pheochromocytoma, and assess the efficacy and safety of the laparoscopic approach. METHODS: Between April 1998 and April 2003, a total of 23 patients underwent laparoscopic adrenalectomy for pheochromocytoma at Chiba University Hospital and Yokohama Rosai Hospital, Japan. We compared the surgical outcomes of these patients with those of 106 patients with adrenal tumors due to other pathologies who underwent laparoscopic adrenalectomy during the same period. RESULTS: The mean tumor size of pheochromocytoma was 4.96 cm. Mean operative time was 192.7 min, and mean estimated blood loss was 130 mL. Neither mean operative time nor mean estimated blood loss was greater for patients with pheochromocytoma. Intraoperative hypertension (systolic blood pressure > 180 mmHg) occurred in 39.1% (9/23) of patients with pheochromocytoma. During the follow-up period, there were no mortalities or recurrences of endocrinopathy. CONCLUSIONS: Laparoscopic adrenalectomy for pheochromocytoma is a safe and minimally invasive procedure.     

Influence of piecemeal necrosis on the compensatory increase of mitochondrial respiratory enzymes of the tumour-bearing liver: Clinical study of 53 surgical cases

The relationships between histological findings, adaptively increased cytochrome a(+a3) levels in chronic liver disease and complications after hepatectomy were studied in order to clarify the mechanism of mitochondrial derangement. The liver specimens of 53 hepatectomized patients were randomly evaluated by three independent hepatopathologists and were compared with cytochrome a(+a3) levels in the biopsied liver, the extent of operation and postoperative complications. The cytochrome a(+a3) concentrations did not show any significant difference between cases of chronic hepatitis and liver cirrhosis nor groups classified by regeneration. Severity of piecemeal necrosis was categorized into three groups: group A--minimal (n = 20); group B--moderate (n = 19); and group C--severe (n = 14). There were significant differences (P less than 0.01) in cytochrome a(+a3) concentrations between the groups (A: 99 +/- 9; B: 135 +/- 6; C: 155 +/- 10 pmol/mg of mitochondrial protein). Extensive hepatectomy, involving segmentectomy or more, was frequently complicated (four of nine, 44.4%) in group C, whereas there were few complications (two of 16, 12.5%) in group A cases in which extensive hepatectomy was performed. Evidence will be presented which will show that deranged liver function, as indicated by cytochrome a(+a3) levels, is closely correlated with piecemeal necrosis. This may be attributed to the damage of periportal hepatocytes which are the main sites of oxidative phosphorylation.     

Randomized Trial Comparing Chemotherapy Alone and Chemotherapy Plus Chest Irradiation in Limited Stage Small Cell Lung Cancer: A Preliminary Report

In order to assess the effectiveness of chest irradiation inaddition to intensive chemotherapy in limited stage small celllung cancer, 50 patients were randomized to receive either chemotherapyalone or chemotherapy plus chest irradiation, between April1981 and October 1985. The chemotherapy regimen consisted ofa four-drug combination of cyclophosphamide, vincristine, methotrexate,and procarbazine, and a three-drug combination of etoposide,adriamycin, and nimustine, given alternately every 8 weeks.One group of 26 patients received the chemotherapy alone, andanother group of 24 patients received chest irradiation with40 Gy between cycles 1 and 2 of the chemotherapy. Complete responserates were quite similar in the two groups; 50% for those receivingchemotherapy alone, and 59% for those receiving chemotherapyplus chest irradiation. There were no significant differencesin median survival (15 months versus 12 months) and in long-termsurvival rates between the two groups with a median follow-upperiod of 26 months. The combined modality treat ment was moretoxic than chemotherapy aIone two patients receiving such treatmentdied of radiation pneumonitis. It is concluded that chest irradiationcombined with chemotherapy does not affect the response rate,survival, or pattern of recurrence in patients with limitedstage small cell lung cancer.     

Stage–specific antigens of Hymenolepis microstoma recognized in BALB/c mice

Antigenicity of eggs (oncospheres), cysticercoids and adults (with immature segments only) of the bile duct tapeworm Hymenolepsis microstoma was analysed using immunoblotting techniques and indirect immunofluorescent antibody (IFA) techniques with immune sera of BALB/c mice (i) infected with different doses of cysticercoids, (ii) during patent or prepatent infection with the lumen phase of the parasite or (iii) sensitized with live or dead eggs. Antibody responses detected by IFA test and immunoblotting showed that antigenicity of eggs (oncospheres) differed from that of cysticercoids and adults. Single worm infections were sufficient to stimulate antibody responses. Mice which had patent infection showed strong antibody responses to all three (egg (oncosphere), cysticercoid, adult) antigens, while mice given two prepatent infections showed some antibody responses to cysticercoid and adult antigens only. Although the normal intermediate hosts of this parasite are arthropods, antibodies to some major egg (oncosphere) antigens were produced in mice given eggs of this parasite orally, either through inoculation of eggs or ingestion of faeces contaminated with eggs. Antibodies were not produced in mice dosed with non-viable eggs. The results are consistent with the hypothesis that cestode parasites express phase- (or stage-) specific antigens.     

Fast-Slow Type of Atrioventricular Nodal Reentrant Tachycardia: Horizontal Dissociation of the AV Node During Tachycardia

Two patients with recurrent supraventricular tachycardia are presented. The tachycardia was initiated and terminated by atrial extrastimulation beyond the atrial relative refractory period and the atrial activation sequence during the tachycardia was low to high. The induction of tachycardia was dependent on a critical AH interval. In patient 1 who had ventriculoatrial conduction, the tachycardia was initiated by the premature ventricular stimulation followed by double atrial response. In patient 2 the ventriculoatrial conduction was not observed. In both patients, the unchanged atrial cycle length during the tachycardia with antegrade Wenckebach AH block was observed. When AH block occurred during tachycardia the first AH interval was shorter than the subsequent HA interval. In patient 2 verapamil (5 mg) prolonged the atrial cycle length during tachycardia and rapid intravenous injection of adenosine triphosphate (10 mg) terminated the tachycardia. Oral diltiazem (280 mg/day) suppressed the tachycardia in patient 1. These findings suggest that the mechanism of tachycardia may be fast-slow type of AV nodal reentry in the upper portion of the AV node and this type of arrhythmia has tendency to show incessant form.