1/113. A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception.A chromosomally normal 37-year-old woman was referred for preimplantation genetic diagnosis after having several conceptuses with trisomy 21. Segregation of chromosome 21 was assessed in unfertilised meiosis II oocytes and preimplantation embryos from PGD cycles using fluorescent in situ hybridisation (FISH). Of 7 preimplantation embryos, 5 were chromosomally abnormal with 4 having trisomy 21 and one being tetraploid. Of 4 oocytes, 3 had an abnormal chromosomal constitution with either an extra chromosome 21 or an extra chromatid 21. In one oocyte an extra chromatid 21 was detected in both the metaphase II complement and the first polar body providing the first direct evidence of a maternal trisomic germ cell line. Moreover, this result shows that the extra chromosome 21 can precociously divide into its two chromatids at the first meiotic division.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
2/113. Rapid reversal of nephrotic syndrome due to primary systemic AL amyloidosis after VAD and subsequent high-dose chemotherapy with autologous stem cell support.In a patient with nephrotic syndrome, renal biopsy revealed AL amyloid deposits. Monoclonal lambda light chains were identified in serum and urine. A low percentage of monoclonal plasma cells was detected in the bone marrow. The patient received four cycles of VAD and subsequent high-dose chemotherapy (HDCT) with melphalan (200 mg/m2) followed by autologous peripheral blood stem cell transplantation. proteinuria rapidly diminished during chemotherapy. Three months after HDCT, the patient has no edema, and no signs of plasma cell dyscrasia are currently detectable. Using VAD before starting HDCT may improve the condition of patients with amyloidosis and reduce transplantation-related morbidity and mortality.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
3/113. Successful treatment of adolescent pemphigus vulgaris by immunoadsorption method.A 15-year-old girl with pemphigus vulgaris did not respond to oral administration of prednisolone at 45 mg/day. The skin and oral mucous membrane lesions recurred after effective treatments with methylprednisolone pulse therapy and combination therapy with prednisolone and cyclosporine. The finally successful treatment involved eleven cycles of immunoadsorption using a tryptophan column and administration of a moderate dose of prednisolone. serum gamma-globulin level and anti-intercellular antibody titer decreased from 1.08 g/dl to 0.5 g/dl and 1:320 to 1:20, respectively. She has been well controlled with 21.5 mg/day prednisolone for 8 months after the final adsorption. Considering the physical, mental and social situation of adolescent student patients, immunoadsorption is a highly preferable choice among a variety of treatment modalities for pemphigus vulgaris because it makes the term of hospitalization shorter and avoids undesirable side effects from initial high dose corticosteroids.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
4/113. Follicular large-cell lymphoma of the orbit: a clinicopathologic, immunohistochemical and molecular genetic description of one case.BACKGROUND: Follicular large cell lymphoma of the orbit is a very rare and aggressive lymphoproliferative disease of the ocular adnexa. In this study we analyzed the clinicopathologic characteristics of one patient, including the immunoglobulin gene rearrangement assay by means of polymerase chain reaction. CASE REPORT: A 71-year-old female underwent an incisional biopsy in the superior nasal quadrant of the left orbit following the occurrence of bilateral eyelid edema and ptosis. histology and immunohistochemistry revealed a follicular large cell lymphoma of the orbit. Computerized tomography aimed at staging the disease revealed a supraclavicular lymphoadenopathy approximately 0.5 cm in diameter. Bone marrow biopsy was negative for lymphoma. The patient was classified as stage IV. She underwent a 10-week cycle of polychemotherapy (VP16, adriamycin, cyclophosphamide, vincristine, prednisone, bleomycin). Ten months after therapy, disease recurred at the cervical lymph nodes and the patient underwent a radiotherapy cycle of 4320 cGy with disease remission. At the time of writing, the patient presents a left axillary adenopathy on computerized tomography followup. CONCLUSION: Ophthalmologists should be aware of possible rare occurrences of follicular large cell lymphomas of the orbit. In this case the clinical outcome is always more aggressive than the more common MALT-type lymphoma, which usually exhibits benign behavior.- - - - - - - - - - ranking = 2keywords = cycle (Clic here for more details about this article) |
5/113. recurrence of cyclic esotropia after surgical correction.Cyclic esotropia is a rare form of strabismus in which a convergent squint appears and disappears typically, but not always, in a regular 48-hour cycle. Characteristically, the convergent squint, when present, has a large angle with associated suppression and no binocular function. On normal or "nonsquinting" days, no manifest deviation is detectable (although in some cases there may be an esophoria). Physiologic diplopia is appreciated, whereas fusion and stereopsis are all normal. amblyopia may occur in up to 20% of cases.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
6/113. Late patency of recycled internal mammary artery: verification by Doppler echocardiography and coronary angiography.We report the case of a 57-year-old man who had presented with exertional angina early in 1997 and had subsequently undergone myocardial revascularization with the use of both internal mammary arteries. Two months after surgery, the patient was readmitted to the hospital with unstable angina. coronary angiography revealed a 90% occlusion of the left internal mammary artery anastomosis, which was attached to the left anterior descending coronary artery. At reoperation, the left internal mammary artery was detached from the left anterior descending coronary artery, probed and injected with papaverine, checked for patency, and regrafted to the same coronary artery. recycling of the left internal mammary artery was facilitated by the harvesting and routing technique that had been used during the previous operation. At the patient's 1-year follow-up visit, both Doppler echocardiography and coronary angiography showed patency of the recycled graft. We conclude that recycling of the left internal mammary artery is a safe and effective option in selected patients who require reoperation after myocardial revascularization.- - - - - - - - - - ranking = 5keywords = cycle (Clic here for more details about this article) |
7/113. Successful treatment of relapsed CML after cord blood transplantation with donor leukocyte infusion IL-2 and IFNalpha.A 3-year-old girl with BCR/ABL-positive CML relapsed after related HLA-identical cord blood transplantation. She was treated with three cycles of donor lymphocyte (DLI) infusion from her 15-month-old brother. Interferon alpha was added after the second DLI, whereas a trial of IL-2 had to be discontinued because of increasing immature myeloid cells in the blood smear. No signs of GVHD were observed, but she developed myelosuppression and needed one platelet and one red blood cell transfusion. She achieved a molecular remission after 6 months with transient molecular relapse followed by sustained remission for 15 months. Thus, DLI with or without interferon alpha might prove to be a promising treatment option with tolerable side-effects in relapsed CML after cord blood transplantation. bone marrow transplantation (2000) 25, 219-222.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
8/113. Double recurrence of FSGS after two renal transplants with complete regression after plasmapheresis and ACE inhibitors.A patient who had undergone a first cadaveric donor kidney transplantation for idiopathic focal segmental glomerular sclerosis (FSGS), had an immediate recurrence of a biopsy-proven FSGS that eventually led to graft failure within 5 years from transplantation. The patient underwent a second cadaveric transplantation 10 months later. An immediate recurrence of a biopsy-proven FSGS occurred that was treated with two protracted cycles of plasmapheresis of seven months each, with the addition of an ACE inhibitor from the beginning. A complete and stable remission of FSGS was observed, which continues after more than 6 years from the end of plasmapheresis. The recurrence of FSGS after a second transplantation has a poor prognosis, but prolonged plasmapheresis treatment, by removing circulating factors altering glomerular permselectivity, and the addition of ACE inhibitors, through their potential interference with TGF-beta, might be synergistic in obtaining permanent remission.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
9/113. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial dna.OBJECTIVE: To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle. BACKGROUND: Recurrent myoglobinuria is typically seen in patients with inborn errors of carbohydrate or lipid metabolism, the main sources of energy for muscle contraction. Relatively little attention has been directed to defects of the mitochondrial respiratory chain in patients with otherwise unexplained recurrent myoglobinuria. methods: Having documented COX deficiency histochemically and biochemically in the muscle biopsy from a patient with exercise-induced recurrent myoglobinuria, the authors sequenced the three mitochondrial dna (mtDNA)-encoded COX genes, and performed restriction fragment length polymorphism analysis and single-fiber PCR. RESULTS: The authors identified a nonsense mutation (G5920A) in the COX I gene in muscle mtDNA. The mutation was heteroplasmic and abundantly present in COX-negative fibers, but less abundant or absent in COX-positive fibers; it was not found in blood or fibroblasts from the patient or in blood samples from the patient's asymptomatic mother and sister. CONCLUSIONS: The G5920A mutation caused COX deficiency in muscle, explaining the exercise intolerance and the low muscle capacity for oxidative phosphorylation documented by cycle ergometry. The sporadic occurrence of this mutation in muscle alone suggests that it arose de novo in myogenic stem cells after germ-layer differentiation. Mutations in mtDNA-encoded COX genes should be considered in patients with recurrent myoglobinuria.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
10/113. A pancreatic intraductal papillary mucinous tumor causing recurrent acute pancreatitis at the onset of menstrual periods.The unusual case of a young woman with pancreatitis recurring at onset of her menstrual periods is reported. The patient was diagnosed with pancreatic intraductal papillary mucinous tumor (IPMT). The temporal relation of clinical exacerbation of pancreatitis to the menstrual cycle is suggestive of a hormonal-mediated mechanism. The hypothesis of a possible role of progesterone receptors was dismissed with verification of the absence of progesterone and estrogen receptors in the neoplastic tissue. The possible role of activin A or inhibin A in our patient's clinical picture is theorized.- - - - - - - - - - ranking = 6.2809579210924keywords = menstrual cycle, cycle (Clic here for more details about this article) |
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