1/776. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.Two siblings manifested a neuro-haematologic syndrome characterised by low birth weight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia and pancytopenia without either telangiectasia or chromosomal instability. One sibling died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of purkinje cells and minimal gliosis. A surviving sibling has shown haematologic progression to a myelodysplastic disorder. There was no evidence of any chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. monosomy-7 was not present in the surviving sibling. We suspect that these two patients represent another example of the rare Hoyeraal-Hreidarsson syndrome and we are currently engaged in very close monitoring of the surviving sibling for evidence of any karyotypic abnormality.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
2/776. Multifocal osteosarcoma: an unusual presentation.PURPOSE: Report the unusual presentation, clinical course, and cytogenetic abnormalities in a child with multifocal osteosarcoma. patients AND methods: A 10-year-old boy had multifocal osteosarcoma involving the entire skeleton, pleura, bone marrow, and lungs. He had marked anemia, thrombocytopenia, and severe hypocalcemia at diagnosis. RESULTS: Despite aggressive chemotherapy, he died from progressive disease 1 month after diagnosis. cytogenetic analysis of tumor cells within the pleural fluid showed multiple chromosomal abnormalities with amplification of the c-myc oncogene. CONCLUSION: Multifocal osteosarcoma should be considered in the differential diagnosis of a child with pancytopenia and multiple bone lesions. Amplification of the c-myc oncogene may have had a significant role in the pathogenesis, etiology, and rapid progression of this patient's multifocal disease. Additional studies will be needed to determine the biologic significance of c-myc amplification in multifocal osteosarcoma.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
3/776. Prolonged survival of a patient with sickle cell trait and metastatic renal medullary carcinoma.PURPOSE: The treatment and outcome of a patient with sickle cell trait and metastatic renal medullary carcinoma is described. PATIENT AND methods: A 12-year-old boy with sickle cell trait had metastatic renal medullary carcinoma. After surgical resection of the primary tumor, he received chemotherapy with methotrexate, vinblastine, doxorubicin, and cisplatin. The carcinoma progressed after a 6-month period of stable disease. At that time, he received chemotherapy including ifosfamide, etoposide, carboplatin, and topotecan. RESULTS: The patient died of progressive disease 15 months from diagnosis. The patient's tumor in this report showed no progression while he was receiving methotrexate, vinblastine, doxorubicin, and cisplatin, but eventually became refractory to these and other cytotoxic agents. CONCLUSION: Renal medullary carcinoma is a highly chemotherapy-resistant tumor. Average survival after diagnosis is 15 weeks; the longest survival reported in the literature is 12 months from diagnosis. The patient in this report survived longer than the previously described patients before dying from progressive disease.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
4/776. Clinical presentation and types of Dupuytren's disease.The clinical presentation of Dupuytren's disease is discussed with emphasis on dermato-pathology, the nodule, the cord, ectopic manifestations regional and distant, and disease progression. The differential diagnosis also is described with a list of pseudo-Dupuytren's disease cases. Observations by this author suggest that there are two distinct clinical entities responsible for palmar fascial contracture, namely typical Dupuytren's disease and atypical Dupuytren's contracture. These two types seem to differ in presentation, treatment, and prognosis. The characteristic clinical findings of each of these two types are described. The disparity among treatment outcome studies and epidemiologic studies with regard to the prevalence of Dupuytren's disease is probably in part due to lack of distinction between these two clinical types. Accurate diagnosis and satisfactory treatment outcome can be achieved by careful history, thorough physical examination, and keen understanding of the pathophysiology of this enigmatic disease.- - - - - - - - - - ranking = 24.332024861973keywords = disease progression, progression (Clic here for more details about this article) |
5/776. Evolution of left ventricular diseasein the fetus. Case report.A fetal case is described that showed a rapid progression from the features of initial left ventricular fibroelastosis at 20 weeks of gestation to a more marked dilation at 22 weeks and finally to a hypoplastic left ventricle with aortic stenosis at 24 weeks of gestation. This case confirms the evolutive character of left ventricular disease during fetal life.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
6/776. p53 and p16INK4A mutations during the progression of glomus tumor.Glomus tumors are significantly rare tumors of carotid body. The great majority of these tumors are benign in character. Here we present two brothers with hereditary glomus jugulare tumor who had consanguineous parents. radiotherapy was applied approximately 8 and 10 years ago for treatment in both cases. Eight years later, one of these cases came to our notice due to relapse. The mutation pattern of p53, p57KIP2, p16INK4A and p15NK4B genes which have roles in the cell cycle, was analyzed in tumor samples obtained from the two affected cases in the initial phase and from one of these cases at relapse. The dna sample obtained from the case in initial diagnosis phase revealed no p53, p57KIP2, p16INK4A or p15INK4B mutation. He is still in remission phase. Despite the lack of p53, p57KIP2, p16INK4A and p15INK4B mutation at initial diagnosis the tumor dna of the other case in relapse revealed p53 codon 243 (ATG-->ATC; met-->ile) and p16 codon 97 (GAC-->AAC; asp-->asn) missense point mutations. No loss of heterozygosity in p53 and p16INK4A was observed by microsatellite analysis of tumoral tissues in these cases. P53 and p16INK4A mutations observed in relapse phase were in conserved regions of both genes. No previous reports have been published with these mutations in glomus tumor during progression. The mutation observed in this case may due to radiotherapy. In spite of this possibility, the missense point mutations in conserved region of p53 and p16INK4A genes may indicate the role of p53 and p16INK4A in tumor progression of glomus tumors.- - - - - - - - - - ranking = 6keywords = progression (Clic here for more details about this article) |
7/776. Progressive brown discoloration of silicone intraocular lenses after vitrectomy in a patient on amiodarone.A patient who was treated with amiodarone for 3 years developed brown discoloration of the intraocular lenses in both eyes. contrast sensitivity and blue perception were reduced in the right eye. After vitrectomy for a vitreoretinal traction syndrome in the left eye, the discoloration appeared to increase. The apparent progression may have been related to breakdown of the blood-aqueous barrier after vitrectomy. However, because the discoloration developed before surgery and was bilateral, long-term administration of amiodarone may also have played a role.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
8/776. Progressive outer retinal necrosis syndrome as an early manifestation of human immunodeficiency virus infection.Progressive outer retinal necrosis syndrome is a recently recognized variant of necrotizing herpetic retinopathy, developing in patients with acquired immune deficiency syndrome (AIDS) or other conditions causing immune compromise. We report a case in which the diagnosis of retinal necrosis syndrome was made before the diagnosis of AIDS was confirmed. A 41-year-old man presented with a 1-month history of blurred vision in his left eye. Ophthalmologic examination revealed extensive retinal necrosis with total retinal detachment in his left eye and multifocal deep retinal lesions scattered in the posterior fundus as well as in the peripheral retina in his right eye. The serologic test for human immunodeficiency virus (hiv) was positive. Despite intravenous acyclovir treatment for 1 week, the lesions in the right eye showed rapid progression. High doses of intravitreal ganciclovir were then given in addition to intravenous acyclovir. After combined treatment for 1 month, the lesions became quiescent and the visual acuity improved to 20/30. Although the patient soon developed full-blown AIDS, the vision in his right eye remained undisturbed. physicians should suspect progressive outer retinal necrosis syndrome in any patient with rapidly progressive necrotizing retinopathy and test the patient for hiv infection. Aggressive combined antiviral agent therapy should be considered to save vision.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
9/776. Rapid progression of cardiomyopathy in mitochondrial diabetes.Cardiac involvement and its clinical course in a diabetic patient with a mitochondrial tRNA(Leu)(UUR) mutation at position 3243 is reported in a 54-year-old man with no history of hypertension. At age 46, an electrocardiogram showed just T wave abnormalities. At age 49, it fulfilled SV1 RV5 or 6>35 mm with strain pattern. At age 52, echocardiography revealed definite left ventricular (LV) hypertrophy, and abnormally increased mitochondria were shown in biopsied endomyocardial specimens. He was diagnosed as having developed hypertrophic cardiomyopathy associated with the mutation. However, at age 54, SV1 and RV5,6 voltages were decreased, and echocardiography showed diffuse decreased LV wall motion and LV dilatation. Because he had mitochondrial diabetes, the patient's heart rapidly developed hypertrophic cardiomyopathy, and then it seemed to be changing to a dilated LV with systolic dysfunction. Rapid progression of cardiomyopathy can occur in mitochondrial diabetes.- - - - - - - - - - ranking = 5keywords = progression (Clic here for more details about this article) |
10/776. Spontaneous remission of anemia associated with a myelodysplastic syndrome with disease evolution into a myeloproliferative state.A red cell transfusion-dependent patient with a myelodysplastic syndrome had progression into a myeloproliferative state with thrombocytosis. At the same time, the patient became transfusion independent, and a subsequent bone marrow examination revealed a previously undetected loss of chromosome 7. The patient remains well with control of thrombocytosis by anagrelide therapy.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
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