Re: "Daily migraine with aura: a new migraine variant" (Merims D., Kuritzky A. Headache. 2000;40:389-392).
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Aged↗
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[Certain variants of clinical course of cancer of the gastric stump].
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Adult↗
[Revascularization of the legs in different variants of atherosclerotic vascular lesion].
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Arteriosclerosis↗
Dedifferentiated parosteal osteosarcoma: the experience of the Rizzoli Institute.
BACKGROUND: Dedifferentiated parosteal osteosarcoma (DPOS) is a variant of osteosarcoma in which a high-grade sarcoma coexists with a conventional parosteal osteosarcoma (c-POS), either at presentation (synchronous type) or at the time of recurrence (metachronous type). Only approximately 60 patients have been reported in the literature. The objective of this study was to analyze the clinicopathologic and radiographic features of a relatively large number of patients with DPOS in an attempt to define further the histologic and biologic behavior of this rare entity. METHODS: In a series of 120 patients with parosteal osteosarcoma who were seen at the Rizzoli Institute from 1958 to 2000, the authors identified 29 patients who were diagnosed with DPOS. The authors reviewed the clinical and radiologic features, histologic sections, treatments, and outcomes in this group of patients with DPOS. RESULTS: Twelve patients were male, and 17 patients were female. The patients ranged in age from 15 years to 65 yrs (average, 36 years; median, 32 years). One tumor involved the scapula, one involved the ilium, and another involved the skull. All 26 of the other tumors were located in the long bones (14 in the femur, 5 in the humerus, 3 in the tibia, 3 in the fibula, and 1 in the ulna). In 18 patients, radiographic areas of lucency were seen within an otherwise sclerotic lesion. Histologically, the dedifferentiated component was high-grade osteoblastic osteosarcoma in 14 patients, fibroblastic osteosarcoma in 10 patients, giant cell-rich osteosarcoma in 3 patients, and chondroblastic osteosarcoma in 2 patients. All tumors were Stage IIB, and invasion of the medullary canal was detected in 19 patients (65%). Twenty-eight patients underwent surgery, and 18 of those patients received chemotherapy (5 patients received neoadjuvant chemotherapy, and 13 patients received adjuvant). Nine patients were dead and 20 patients were alive (average follow-up, 107 months; range, from 3 months to 36 years) at the last follow-up. Of the nine patients who died, one patient received no treatment, five patients underwent surgery (with three patients achieving adequate margins) in combination with chemotherapy, and three patients underwent surgery only (with adequate margins achieved). Of the 20 patients who remained alive, 13 patients underwent surgery (with 10 patients achieving adequate margins) in combination with chemotherapy, whereas 7 patients underwent surgery only (all with adequate margins). Seven of the nine patients who died had widespread metastases. One patient died of causes unrelated to the tumor, and another patient died shortly after undergoing resection of a lesion in the skull. CONCLUSIONS: Dedifferentiation occurred in approximately 24% of patients with c-POS. The prognosis for patients with DPOS was better than the prognosis for patients with dedifferentiated central and dedifferentiated peripheral chondrosarcoma.
Adolescent↗
Benign hematologic neoplasm associated with mediastinal mature teratoma in a patient with Klinefelter's syndrome: a case report.
An 18-year-old male with Klinefelter's syndrome presented with a mature teratoma of the mediastinum. He was treated with debulking surgery and brief cisplatin-based chemotherapy. Ten years later, he presented with paraplegia and was found to have an isolated epidural mass. The mass was composed of mature histiocytoid cells reminiscent of those seen in malignant histiocytosis. There was no evidence of medullary dissemination and there was no evidence of recurrence of the germ cell tumor. He received local radiation therapy and a single course of leukemic induction. He remains well 4 years later. This case represents a localized variant of the diffuse histiocytic malignancies associated with malignant mediastinal germ cell tumors.
Adolescent↗
Intramural mesenteric venulitis. A new cause of intestinal ischaemia.
Venous damage is an uncommon cause of intestinal ischaemia. We report on a 44-year-old woman who presented signs and symptoms of acute intestinal ischaemia requiring surgical treatment. Histological examination of the resected right colon showed features of an intramural lymphocytic venulitis with no other demonstrable causes of ischaemic injury of the bowel. Extramural mesenteric veins appeared dilated and congested, without evidence of thrombotic occlusion or of inflammatory involvement. The patient, who was not taking any long-term medication and had no clinical evidence of collagen-vascular disease, promptly recovered after surgery. Follow-up for 7 months with no recurrences suggested a self-limited or indolent process. We propose the name 'intramural mesenteric venulitis' for this condition and believe that it could represent one extreme (the microscopic variant or intramural phase) of the spectrum comprising entero-colic phlebitis and mesenteric inflammatory veno-occlusive disease. The immunohistochemical evidence of a marked preponderance of T phenotype in the perivenular lymphocytes suggests lymphocyte-mediated vascular damage as the pathogenesis of the lesion.
Adult↗
Cell necrosis and endocytosis (apoptosis) in an embryonal rhabdomyosarcoma of the orbit.
An orbital embryonal rhabdomyosarcoma, which was excised from the orbit of an 8-year-old girl, was studied by light microscopy and transmission electron microscopy. Cells within the tumour demonstrated by light microscopy diffuse areas of necrosis and isolated single-cell necrosis. There were many viable tumour cells with intracytoplasmic vacuolar structures which contained basophilic granules. Ultrastructural studies showed close apposition between well-preserved tumour rhabdomyoblasts and degenerate or necrotic tumour cells: degenerate cells and condensed cell fragments were observed within the cytoplasm of the well-preserved tumour cells. Some cells which showed degenerative changes had features which suggested that they had ingested more than one degenerate cell on separate occasions. This phenomenon may be regarded as a variant of selective individual cell death, currently referred to as apoptosis, which has not been previously reported in a case of embryonal rhabdomyosarcoma. The patient remains free of tumour recurrence four years following treatment with combined radiotherapy and chemotherapy.
Cell Survival↗
Primary gastric apoptosis-rich T-cell lymphoma co-expressing CD4, CD8, and cytotoxic molecules.
In contrast to primary gastric lymphomas of B-cell type, little is known about primary gastric T-cell lymphomas. We describe three cases with remarkably similar features: diffuse growth, epitheliotropism, medium too large cell size, high apoptotic rates, and a CD3+, CD4+, CD8+, CD45RO+ immunophenotype. Clonal TCRgamma gene rearrangement was shown in two cases. Epstein-Barr virus infection was excluded in two cases. Taking advantage of fresh-frozen material, we analyzed two cases further, revealing CD5-, CD16+, CD56-, CD57-, CD25+, CD30+, CD103 (alphaEbeta7)+, bcl-2 protein+, CD95+, CD95 ligand(L)-. CD95L, however, was detected in histiocytic and fibroblastoid by stander cells. The lymphomas expressed granzyme B, perforin, and the TIA-1 antigen in various combinations. All three cases had a very unfavorable clinical course characterized by local recurrence and/or dissemination to other epithelial sites, leading to death within 6-12 months after the initial diagnosis despite surgery and aggressive antineoplastic treatment. These data suggest a novel variant of peripheral T-cell lymphoma operationally characterized as primary gastric, apoptosis-rich, CD103+, EBV-, T-cell lymphoma co-expressing CD4, CD8, CD16 and cytotoxic molecules.
Adult↗
Berger disease: Henoch-Schönlein syndrome without the rash.
Identical 7-year-old twin boys each had a proved adenovirus infection at the same time. A few days later one developed florid Henoch-Schönlein purpura, severe alimentary tract symptoms, and transient joint symptoms. He had an acute nephritic syndrome, which progressed to nephrotic syndrome and renal insufficiency. Biopsy showed severe proliferative glomerulonephritis with crescents and marked deposition of IgA, IgG, C3, and fibrin. The second twin had hematuria and abdominal pain but no rash. Biopsy showed mesangial proliferative glomerulonephritis with mesangial deposits of IgA and, to a lesser extent, IgG and C3. The appearance was characteristic of Berger disease, and the subsequent clinical course has been that of symptomless microscopic hematuria and recurrent macroscopic hematuria with normal renal function. Immunologic studies have not revealed why these identical twins responded differently to the same provocation. Perhaps Berger disease may be considered a variant of Henoch-Schönlein nephritis.
Adenoviridae Infections↗
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage-hair hypoplasia (CHH; MIM 250250). We tested the hypothesis that recessive metaphyseal dysplasia without hypotrichosis (M1M 250460), a disorder presenting with short stature and metaphyseal dysplasia similar to CHH, but lacking hair anomalies, immunodeficiency and other extra skeletal features, might be allelic to CHH. We identified four mutation-carrying alleles segregating with the skeletal phenotype in two unrelated boys and their parents. One allele carried the common Finnish mutation +70A--> G; the remaining three carried +195C--> T, +238C--> T, and dupAAGCTGAGGACG at -2. Sequencing 120 alleles from a control group revealed an unusually high density of single-nucleotide polymorphisms in and around the RMRP gene: the biological significance of this finding is unclear. We conclude that recessive metaphyseal dysplasia without hypotrichosis is a variant of CHH, manifesting only as short stature and metaphyseal dysplasia. Precise diagnosis of this form of metaphyseal dysplasia is not without importance because of recessive inheritance with corresponding recurrence risk, as well as because of potential complications such as anaemia, susceptibility to infections and the increased likelihood of developing cancer. The short stature and metaphyseal changes associated with cone-shaped epiphyses of the hands should raise the diagnostic possibility of a CHH-related disorder that can then be confirmed by mutation analysis.
Alleles↗
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Fatal congenital nonlysosomal cardiac glycogenosis has been attributed to a subtype of phosphorylase kinase deficiency, but the underlying genes and mutations have not been identified. Analyzing four sporadic, unrelated patients, we found no mutations either in the eight genes encoding phosphorylase kinase subunits or in the two genes encoding the muscle and brain isoforms of glycogen phosphorylase. However, in three of five patients, we identified identical heterozygous R531Q missense mutations of the PRKAG2 gene, which encodes the gamma 2-subunit of AMP-activated protein kinase, a key regulator of energy balance. Biochemical characterization of the recombinant R531Q mutant protein showed >100-fold reduction of binding affinities for the regulatory nucleotides AMP and ATP but an enhanced basal activity and increased phosphorylation of the alpha -subunit. Other PRKAG2 missense mutations were previously identified in patients with autosomal dominant hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome, characterized by juvenile-to-adult clinical onset, moderate cardiac glycogenosis, disturbed excitation conduction, risk of sudden cardiac death in midlife, and molecular perturbations that are similar to--but less severe than--those observed for the R531Q mutation. Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome. R531Q and other PRKAG2 mutations enhance the basal activity and alpha -subunit phosphorylation of AMP-activated protein kinase, explaining the dominant nature of PRKAG2 disease mutations. Since not all cases displayed PRKAG2 mutations, fatal congenital nonlysosomal cardiac glycogenosis seems to be genetically heterogeneous. However, the existence of a heart-specific primary phosphorylase kinase deficiency is questionable, because no phosphorylase kinase mutations were found.
AMP-Activated Protein Kinases↗
Angioimmunoblastic T-cell lymphoma (angioimmunoblastic lymphadenopathy with dysproteinemia [AILD]-type T-cell lymphoma) followed by Hodgkin's disease associated with Epstein-Barr virus.
A patient is described with angioimmunoblastic T-cell lymphoma (AIL) (angioimmunoblastic lymphadenopathy with dysproteinemia [AILD]-type T-cell lymphoma), which was later followed by Hodgkin's disease. At the time of the initial diagnosis, histological examination of a cervical lymph node showed a typical picture of AIL with abundant clear cells which were CD45RO+, CD43+, and CD20-, and there was no evidence of a monoclonal B-cell proliferation by immunohistochemical analysis. In situ hybridization for Epstein-Barr virus (EBV) was negative. Interposed by a bout of recurrence, the patient developed, 16 years later, a left subparotid mass which showed histologic features of Hodgkin's disease, mixed cellularity type. Diagnostic Reed-Sternberg cells and their variants were CD30+, CD15- and CD20+. Neither rearrangement of TCR beta and gamma chain genes nor of immunoglobulin heavy chain and kappa light chain genes was detected in DNA extract from fresh material. In situ hybridization showed the presence of EBV within the Reed-Sternberg cells. The data show that EBV was not etiologically related to AIL in this case. Further, the deficit in cellular immunity that accompanied AIL conceivably permit primary EBV infection or reactivation of latent infection, which eventuated in development of Hodgkin's disease, but the exact pathogenesis remains uncertain.
Blotting, Southern↗
Persistent cyclic herpes simplex virus infection in vitro. IV. Changes in the severity of the infections in the presence of antibody.
Hampar, Berge (National Institute of Dental Research, Bethesda, Md.). Persistent cyclic herpes simplex virus infection in vitro. IV. Changes in the severity of the infections in the presence of antibody. J. Bacteriol. 92:1741-1747. 1966.-The severity of persistent herpes simplex virus (HSV) infections maintained in the presence of viral antibody (AB) changed with time. These changes could be divided into three distinct phases during which the severity of the infections were maintained at low (phase 1), high (phase 2), and intermediate (phase 3) levels. Paralleling these changes was the appearance in the cultures of a new HSV variant which induced the formation of giant cells. The changes in the severity of the infections were attributable to three factors. The first was the presence in the cultures of virus-resistant cells. The second was the suppressive effects due to virus neutralization by the AB. The third was the inherent properties of each HSV variant which determined the amount of virus remaining in an infectious form in the presence of AB. Finally, the period of "exacerbation" in vitro (phase 2) was compared with recurrent episodes in human herpes infection.
Animals↗
Multicentric reticulohistiocytosis: a rare cause of erosive arthropathy of the distal interphalangeal finger joints.
BACKGROUND: Multicentric reticulohistiocytosis (MRH) is a rare systemic disease, presenting with typical skin abnormalities and erosive polyarthritis, which is often associated with malignancy. CASE REPORT: A case of MRH arthropathy, in which the typical nodular skin manifestation of the disease was absent, is described in a patient with a past history of breast cancer and no evidence of recurrent or new malignancy. RESULTS: Careful clinical and roentgenological evaluation disclosed important clues to differentiate this condition from other more common distal interphalangeal arthritides--namely, osteoarthritis and its "erosive" variant, rheumatoid arthritis, psoriatic arthritis, tophaceous gout, dialysis related hand arthropathy, and from the rarer fibroblastic rheumatism, all of which can be mimicked by MRH. Histopathology showed the characteristic histiocytic and multinucleated giant cell infiltrate with ground glass cytoplasm, and immunohistochemical analysis showed markers evocative of a monocyte/macrophage origin of MRH.
Aged↗
Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma.
The large cell (LC) subtype is a recently described histologic variant of medulloblastoma (Mb) associated with a rapid and aggressive clinical course. We describe the genomic profile of a LC-Mb tumor obtained from a patient who developed recurrent and fulminant disease despite 'good-risk' features at diagnosis and state- of-the-art multidisciplinary therapy. The tumor sample was analyzed using comparative genomic hybridization (CGH) and complementary molecular approaches. CGH revealed amplicons at chromosome bands 2p24-25, 2q12-22, and 17p11; losses of chromosomes 11q and 18; and low-level gains of 3q, 11p, 13q and 14q. Southern blot analysis confirmed N-myc amplification. No evidence of p53 mutation was detected. The genomic profile of this LC-Mb tumor sample revealed a distinctive pattern of genetic alterations including amplification of N-myc and anonymous oncogenes at chromosome bands 2q12-22 and 17p11. These genomic abnormalities are uncommon in other subtypes of Mb.
Blotting, Southern↗
Low-level genomic instability is a feature of papillary thyroid carcinoma: an array comparative genomic hybridization study of laser capture microdissected papillary thyroid carcinoma tumors and clonal cell lines.
CONTEXT: Previous chromosomal comparative genomic hybridization (CGH) studies of papillary thyroid carcinoma (PTC) have demonstrated a low prevalence of aberrations, with the majority of tumors showing no evidence of chromosomal instability. The technique of CGH can be optimized, however, using array CGH and laser capture microdissection to ensure pure cell populations for analysis. OBJECTIVE: To assess PTC using array CGH applied to laser capture microdissected tumor cells and pure cell cultures. DESIGN: Well-characterized PTC (known ret/PTC and BRAF mutation status), including samples from 5 tumors with classic morphology, 3 follicular variant tumors, and 3 clonal PTC cell lines, were analyzed. RESULTS: Copy gain and loss occurred in all of the tumor cases and cell lines examined. The most common recurrent aberrations involved gains on chromosomes 1, 5, 7, 11, 15, 17, and 22, with recurrent deletions occurring on chromosomes 4, 18, and 19. Analysis of the data from the 8 tumor samples showed that amplifications of TP73 (1p36.33), SNRPN (15q12), and PDGFB (22q13.1) occurred exclusively in tumors with a wild type BRAF. CONCLUSIONS: This study shows a higher prevalence of aberrations detected using array CGH allied to laser capture microdissection than previously described in the literature, and it appears that the combination of laser capture microdissection and arrayed clones optimizes studies utilizing CGH. Copy gain of PDGFB occurs in a subset of tumors showing no evidence of mutated BRAF or rearranged ret, suggesting that copy gain of PDGFB may underlie the increased expression of platelet-derived growth factor described recently in the literature.
Adult↗
[Oncocytic meningioma. Case report].
Among the histological variants of meningiomas the oncocytic subtype is rarely observed. Up-today, only six cases of oncocytic meningioma are described. This subtype of meningiomas shows an aggressive behavior and recurrences are more frequent. We describe a case of oncocytic meningioma in a 78-years-old woman. The patient had a history of breast cancer diagnosed 9 years before the brain biopsy; bilateral mastectomy and adjuvant chemotherapy was performed. She had a right frontal tumour measuring 3 cm in diameter. The patient is alive and well eleven months after surgery. The tumour was composed by large polygonal neoplastic cells with finely granular eosinophilic cytoplasm. Neoplastic cells were arranged in sheets and nests delimited by thin fibrous septa rich in vessels. Psammomatous bodies were also present. Mitoses were rare and necrosis was absent. Oncocytic differentiation was demonstrated by conventional histology and immunohistochemistry. Immunohistochemistry revealed a strong and diffuse positivity for antimitochondrial antiserum, vimentin and EMA; a focal reactivity for cytokeratin was observed. The rarity of oncocytic meningiomas is underlined with only six cases described in the world literature. The immunophenotypic profile and the differential diagnosis of the neoplasm is discussed and the concept of oncocytic meningioma as a distinct entity of tumour is emphasized.
Adenoma, Oxyphilic↗
[The comprehensive surgical treatment of patients with degenerative lesions of the lumbosacral spine].
On the basis of a complex analysis of surgical treatment of 52 patients with degenerative diseases of the lumbosacral part of the spine complicated by the formation of compressive reticulopathies main states were established responsible for the worse quality of life of this category of patients. Different forms of vertebrogenic radiculopathies were determined according to the morphological substrate of compression. The methods of diagnosing the spinal diseases at the lumbosacral level were estimated and the diagnostic algorithms for different variants of degenerative lesions were developed. Rational schemes of surgical correction are proposed according to the established groups of vertebrogenic lumbosacral radiculopathies. Special attention is given to prophylactics of recurrences of the pain syndrome and postoperative instability of the spine.
Humans↗