Juxtaposition of the T-cell receptor alpha-chain locus (14q11) and a region (14q32) of potential importance in leukemogenesis by a 14;14 translocation in a patient with T-cell chronic lymphocytic leukemia and ataxia-telangiectasia.

We describe a t(14;14)(q11;q32) translocation in a patient with T-cell chronic lymphocytic leukemia and ataxia-telangiectasia (AT). By using a battery of joining (J)-segment probes from the T-cell receptor (TCR) alpha-chain locus TCRA, three distinct J alpha rearrangements were observed. One rearrangement reflected a normal TCRA variable (V) region V alpha-to-J alpha recombination. The second rearrangement was caused by the translocation even itself, which joined a DNA segment from 14q32 centromeric to the immunoglobulin heavy chain locus (IGH) and a J alpha gene located approximately 75 kilobases (kb) 5' of the TCRA constant region gene (C alpha). A third rearrangement involved a 17-kb internal deletion 3' to the translocation, a rearrangement within the J alpha locus that has been observed once before in a patient with AT. Analysis of these three rearrangements underscores the increase in aberrant locus-specific recombination in lymphocytes from patients with AT. Furthermore, these studies support the view that a growth-effecting gene is present in the 14q32 region that participates in the leukemogenic process.     

Insulin-like growth factor binding protein-1 as a predictor of glucose-stimulated hyperinsulinemia in prepubertal obese children

OBJECTIVE: The present study was undertaken to examine the association of a glucose-stimulated insulin response with the fasting insulin-like growth factor-binding protein (IGFBP)-1 concentration in prepubertal obese children. SUBJECTS AND METHODS: The fasting levels of serum insulin and IGFBP-1 were measured in 17 obese and 16 control children. Furthermore, we performed an oral glucose tolerance test in obese children and examined the association of the area under the curve (AUC) for insulin with the fasting IGFBP-1 level. RESULTS: The mean serum level of IGFBP-1 was significantly lower in obese children (41.0 +/- 4.8 micrograms/l. P < 0.005) than in controls (91.2 +/- 9.9 micrograms/l). Although there was an inverse relationship between the fasting levels of serum insulin and IGFBP-1 in all subjects (r = -0.42, P < 0.05), no significant correlation between these two parameters was observed in the obese group alone. In obese children, the fasting IGFBP-1 level correlated inversely with AUC-insulin (r = -0.70, P < 0.005), whereas there was no significant relationship between the fasting insulin level and AUC-insulin. CONCLUSION: The present study suggests that the serum level of IGFBP-1 may be an early predictor of insulin resistance in prepubertal obesity.     

Coronary reperfusion using an extracorporeal circulating system performed in cases with abruptly obliterated coronary arteries: a new method]

For the cases with the abruptly obliterated coronary artery during angioplasty or angiography, emergency bypass surgery is mandatory. However, a "bail-out" perfusion catheter with multiple side-holes, which maintains antegrade coronary flow, is not efficient in preventing the myocardium from developing ischemia, because blood flow is interfered due to pressure-dependent perfusion mechanism in the shock state. We developed a new perfusion catheter coupled with an extracorporeal circulating system and a perfusion pump. Its effectiveness and safety were tested experimentally in canine hearts. The system is composed of a perfusion catheter (125 cm in length) with 4 side-holes within 1.5 cm of the catheter tip, and a rolar pump. Maximum flow volumes were 123 ml/min, 84 ml/min, and 52 ml/min for 4.5F, 4.3F, and 4F perfusion catheters, respectively. The left anterior descending coronary artery (LAD) was ligated after the perfusion catheter was advanced into the proximal LAD under fluoroscopic control. To avoid formation of pericatheter intracoronary thrombi, 50 U/kg/hr heparin was continuously injected during a 5-hour ligation. In the nonperfusion group (n = 4), the ST segments elevated in all dogs; 2 died of ventricular fibrillation within 30 min, and one was confirmed to have myocardial necrosis by NBT staining. In the perfusion group (n = 4), neither ECG changes nor hemodynamic deterioration was observed. Intracoronary thrombi were not observed in any surviving dogs. Coronary perfusion using our new device was performed in 2 patients: one patient, a 73-year-old man with 99% stenosis in the very proximal portion of his LAD, had massive intimal dissection after PTCA, and angiography revealed total occlusion of his proximal LAD and LCX. Coronary perfusion was immediately initiated by advancing the perfusion catheter into his LAD. After that the patient recovered from shock. Emergency bypass surgery was successfully performed after 120 min coronary perfusion with the support of IABP and inotropics. The other patient, a 58-year-old man with effort angina, had intimal dissection in the proximal portion of his right coronary artery, which was supplying collaterals to the mid LAD and LCX. Successful bypass surgery was performed 320 min after the coronary perfusion without IABP and inotropics. In conclusion, coronary reperfusion with an extracorporeal circulating system proved to have a greater effect than did passive perfusion in such cases with cardiogenic shock.     

Collagenous gastroduodenitis coexisting repeated Dieulafoy ulcer: A case report and review of collagenous gastritis and gastroduodenitis without colonic involvement

Collagenous gastritis (CG) is a rare disorder characterized by the thick collagenous subepithelial bands associated with mucosal inflammation. There have been approximately fifty reports in the literature since it was first described in 1989. According to previous reports, CG is heterogeneous and classified into two groups—(1) cases limited to the gastric mucosa in children or young adults, and (2) CG associated with collagenous colitis in elderly adults presenting with chronic watery diarrhea. In Japan, only nine previous cases were reported, and all of them were young adults. We report a case of CG with collagenous duodenitis in a 22-year-old female. She had repeated upper gastrointestinal bleeding from a Dieulafoy lesion of the fornix, but had no symptoms of malabsorption or diarrhea. Endoscopic findings revealed striking nodularity with a smooth islet-shaped normal area in the antrum and the body. The pathological findings of nodular mucosa showed the deposition of collagen bands just under the mucoepithelial lesion. In addition, she had collagenous duodenitis in part of the bulbs, and a colonoscopy showed no abnormalities. We provide a literature review of CG and collagenous gastroduodenitis without colonic involvement.     

Establishment of a human nonluteinized granulosa cell line that transitions from the gonadotropin-independent to the gonadotropin-dependent status

The ovary is a complex endocrine organ responsible for steroidogenesis and folliculogenesis. Follicles consist of oocytes and two primary steroidogenic cell types, the granulosa cells, and the theca cells. Immortalized human granulosa cells are essential for researching the mechanism of steroidogenesis and folliculogenesis. We obtained granulosa cells from a 35-yr-old female and immortalized them by lentivirus-mediated transfer of several genes so as to establish a human nonluteinized granulosa cell line (HGrC1). We subsequently characterized HGrC1 and investigated its steroidogenic performance. HGrC1 expressed enzymes related to steroidogenesis, such as steroidogenic acute regulatory protein, CYP11A, aromatase, and gonadotropin receptors. Stimulation with FSH increased the mRNA levels of aromatase, which consequently induced the aromatization of androstenedione to estradiol. Activin A increased the mRNA levels of the FSH receptor, which were synergistically up-regulated with FSH stimulation. HGrC1 also expressed a series of ligands and receptors belonging to the TGF-β superfamily. A Western blot analysis showed that bone morphogenetic protein (BMP)-4, BMP-6, and BMP-7 phosphorylated small mother against decapentaplegic (Smad)1/5/8, whereas growth differentiation factor-9 phosphorylated Smad2/3. BMP-15 and anti-Müllerian hormone phosphorylated Smad1/5/8 while also weakly phosphorylating Smad2/3. These results indicate that HGrC1 may possess the characteristics of granulosa cells belonging to follicles in the early stage. HGrC1 might also be capable of displaying the growth transition from a gonadotropin-independent status to gonadotropin-dependent one.     

Pivot technique combined with mandibular backward distraction osteogenesis for the patient with high risk for relapse

Severe skeletal relapse is one of the most difficult problems after mandibular advancement, and the management to overcome such problems tends to require more compromised methods and longer treatment period. We described that mandibular backward distraction osteogenesis with maxillomandibular fixation at an appropriate occlusion. Furthermore, to avoid inappropriate distraction vector, the distal plates of the distraction device were fixed with 1 screw to work as a pivot after the manipulation of the condyle to the glenoid fossa at the end of distraction activation. This technique was applied to 3 female patients with mandibular deficiency. The intraoral distractors were set on the lateral surface of the mandibular body; the fixation of the distal plate was fixed with 1 monocortical screw to make the proximal segment including the condyle manipulating at the end of the distraction phase by releasing the maxillomandibular fixation. The distraction rate was 1 mm/d, and the latency period was 7 days. The follow-up period after mandibular backward distraction osteogenesis ranged from 26 to 56 months. No specific complication, such as broken device, severe infection, or bony nonunion, occurred. Postoperative relapse was not observed during the follow-up period. This technique might become 1 choice to apply for mandibular deficiency in a patient with high risk for relapse.     

A Case of Carcinoma Ex Pleomorphic Adenoma in the Buccal Mucosa: Review of the Literature

We present a case of carcinoma ex pleomorphic adenoma on the right buccal mucosa in a 52-year-old Japanese woman. Based on the histopathology, the excised tumor was the non-invasive type, but the majority of the tumor consisted of poorly-differentiated adenocarcinoma cells. We performed proton radiation after the surgery. The patient was well, without evidence of disease, 48 months after surgery. Carcinoma ex pleomorphic adenoma in the buccal mucosa has been reported in only four cases during the past twenty years. Therefore, our case was comparatively rare.