1/43. Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred.A fourth kindred displaying the triad of hereditary nephritis, deafness and thrombocytopenia with giant platelets is described. Renal involvement, a common cause of death amongst afflicted subjects, appears to have a better prognosis in the affected members of this family. Although the electron microscopic appearance of the megakaryocytes in the present case appears similar to that in previously reported cases, we suggest that the "giant" platelets may result from a degenerative process of megakaryocytes leading to nuclear regression and cytoplasmic fragmentation, rather than the usual blebbing process.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
2/43. chediak-higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.chediak-higashi syndrome (CHS) is a rare autosomal recessive disorder (incidence around 1 in 106 births), characterised by a complex immunologic defects, reduced pigmentation, and presence of giant granules in many different cell types. It most likely results from defective organellar trafficking or protein sorting. The causative gene (LYST) has recently been identified and shown to be homologous to the beige locus in the mouse. CHS has always been reported associated with premature-termination-codon mutations in both alleles of LYST. We report a unique patient with CHS, who was homozygous for a stop codon in the LYST gene on chromosome 1 and who had a normal 46,XY karyotype. The mother was found to be a carrier of the mutation, whereas the father had two normal LYST alleles. Non-paternity was excluded by the analysis of microsatellite markers from different chromosomes. The results of 13 informative microsatellite markers spanning the entire chromosome 1 revealed that the proband had a maternal isodisomy of chromosome 1 encompassing the LYST mutation. The proband's clinical presentation also confirms the absence of imprinted genes on chromosome 1.- - - - - - - - - - ranking = 0.5keywords = giant (Clic here for more details about this article) |
3/43. Fine needle aspiration cytology of plexiform fibrohistiocytic tumor. A case report.BACKGROUND: Plexiform fibrohistiocytic tumors are rare lesions of proposed myofibroblastic origin occurring primarily in infants and children. While the histologic, immunohistochemical and ultrastructural findings have been well described, cytologic description has been limited. CASE: An 8-month-old, male infant presented with a posterior chest wall mass and decreased use of his left arm. Fine needle aspiration biopsy showed a spectrum of plump fibroblastic spindle cells and histiocytelike cells within a finely granular myxoid background. Osteoclastlike giant cells were also noted. CONCLUSION: We report here the cytologic findings of a plexiform fibrohistiocytic tumor from fine needle aspiration biopsy studied using Papanicolaou, Ultrafast Papanicolaou and Diff-Quik stain, with the cytologic differential diagnosis of other spindled and histiocytelike tumors.- - - - - - - - - - ranking = 0.5keywords = giant (Clic here for more details about this article) |
4/43. The platelets in preleukemia and myelomonocytic leukemia. Ultrastructural cytochemistry and cytogenetics.light and electron microscopic studies of platelets from 16 patients with myelomonocytic leukemia or "preleukemia" revealed major morphologic alterations in 15 and minor ones in 1. Although variable in severity from case to case, the changes present followed a distinct pattern. In most cases there were two platelet populations, one morphologically normal and one morpholigically abnormal. The most salient changes pertained to size (giant forms), shape (the platelets being rounded and probably spheroidal), decrease or absence of the microtubules, and increase in immature elements. A striking feature was the variation in size and shape of the granules, with truly giant forms (up to 2.5 mum) being present. In cytogenetic studies in 14 cases, there was no correlation between the chromosomal changes and the various types of platelet anomalies.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
5/43. A giant cell angiofibroma involving 6q.Giant cell angiofibroma, a recently proposed new clinicopathological entity, arises exclusively in the orbit in adults and histologically exhibits features intermediate between those of giant cell fibroblastoma and solitary fibrous tumor. In a typical case of giant cell angiofibroma, abnormalities of chromosome 6 with a common pattern involving 6q13 were detected together with various other chromosomal aberrations. To our knowledge, this is the first reported case of giant cell angiofibroma demonstrating chromosomal abnormalities.- - - - - - - - - - ranking = 3.5keywords = giant (Clic here for more details about this article) |
6/43. Structural chromosomal anomaly in mental retardation.This article reports the structural chromosomal anomaly in three patients with mental retardation: (i) Proband was a five year old girl with reciprocal retardation (1; 2) (p32; q11) (ii) Proband, female of 14 years. Her karyotype showed translocation (1; 3) (q42; q13). The translocations were de novo in origin (iii) Proband showed variant 13 as the giant satellite over its short arm, and this was paternal in origin. Proband, eighteen months old male child had microcephaly and seizures. These two features may be because of autosomal recessive condition. This report emphasises the need for kayotyping to provide a clear cut diagnosis and appropriate counselling.- - - - - - - - - - ranking = 0.5keywords = giant (Clic here for more details about this article) |
7/43. Low grade fibromyxoid sarcoma. a further low-grade soft tissue malignancy characterized by a ring chromosome.Supernumerary rings in the context of a simple karyotype characterize several low-grade malignant tumors of soft tissue and bone. Low-grade fibromyxoid sarcoma is an uncommon low-grade sarcoma, the cytogenetics of which has not yet been reported. Here we describe the first molecular-cytogenetic characterization of a pulmonary metastasis of low-grade fibromyxoid sarcoma. The histology of the primary and recurrent tumors was consistent with the diagnosis of low-grade fibromyxoid sarcoma of the usual type, whereas the pulmonary metastasis was of the "giant rosettes" variant. cytogenetic analysis revealed a ring chromosome. Because gain of material of chromosomes 7 and 16 was detected by CGH, the ring chromosome is assumed to be composed of material from these respective chromosomes.- - - - - - - - - - ranking = 0.5keywords = giant (Clic here for more details about this article) |
8/43. paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome.The thrombocytopenia in an infant with clinical features of Jacobsen's syndrome characterized by multiple congenital anomalies, cardiac defects, psychomotor retardation, and deletion of chromosome 11 at 11q23.3 has been evaluated. Study of his platelets in the electron microscope revealed giant alpha granules in his cells identical in appearance to those reported in the family with paris-Trousseau syndrome. As a result, the paris-Trousseau syndrome appears to be a variant of the Jacobsen syndrome, and the thrombocytopenia observed in all cases of chromosome 11q23.3 deletion due to dysmegakaryopoieses. Giant alpha granules are frequently observed in normal platelets during long-term storage and may form in Jacobsen and paris-Trousseau platelets during prolonged residence in the bone marrow.- - - - - - - - - - ranking = 0.5keywords = giant (Clic here for more details about this article) |
9/43. A 6p trisomy detected in a family with a "giant satellite".A very large (giant) satellite was observed on one of the D-group chromosomes of a malformed and mentally retarded infant and her father. Detailed cytogenetic studies revealed that the giant satellite represented, in fact, a der(15) chromosome of translocation t(6;15)(p21;p12 or 13). The proposita was trisomic for a part of 6p(6pter leads to 6p21). The father was a balanced carrier, however, the deletion of the short arm of a No. 6 was hard to detect in routine karyotype analysis.- - - - - - - - - - ranking = 3keywords = giant (Clic here for more details about this article) |
10/43. Establishment and characterization of a Kaposi's sarcoma-associated herpesvirus- and Epstein-Barr virus-negative malignant lymphoma cell line (OHK) with primary effusion lymphoma immunophenotype.A novel cell line, designated OHK, was established from ascites of a 59-year-old Japanese woman with diffuse large B-cell lymphoma showing a peculiar serosal tropism, as seen in primary effusion lymphomas (PEL). OHK exhibited a large pleomorphic morphology with irregular nuclei and distinct nucleoli, and included immunoblastic and Reed-Sternberg-like giant cells. On ultrastructural examination, rich intermediate filaments, and well-developed Golgi apparati and rough endoplasmic reticulum, were seen. Immunophenotypically, OHK lacked T and B cell-associated antigens, and had CD10, CD30, CD33 and CD138 antigens. Although OHK cells did not express immunoglobulin (Ig) protein, Southern blot analysis demonstrated clonal rearrangements of Ig heavy and light chain genes. These observations suggest that OHK cells are derived from preterminally differentiated B cells, and that they have features of PEL. Kaposi's sarcoma-associated herpesvirus and Epstein-Barr virus were not detected. OHK displayed hyperploid karyotypes with multiple structural abnormalities, and produced some cytokines such as macrophage-colony-stimulating factor (M-CSF), granulocyte-CSF, interleukin 6 and transforming growth factor beta 1. In particular, vascular endothelial growth factor (VEGF), whose stimulation of vascular permeability is thought to be critical to the pathogenesis of PEL, was also produced in large quantities. These results indicate that OHK may be a useful tool for the investigation of PEL.- - - - - - - - - - ranking = 0.5keywords = giant (Clic here for more details about this article) |
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