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PubMed1999

[An adrenaline-induced vasospasm as the form of presentation of variant angina].

A 41-year-old-man without previous ischemic heart disease, developed a severe anaphylactic reaction. After administration of epinephrine (0.5 mg) the patient complained of chest pain. The electrocardiogram showed an elevation of ST segment in inferior leads. Myocardial necrosis was ruled out. Coronary arteriography disclosed normal coronary arteries. Eight months later, the patient developed severe chest pain during physical activity. ST elevation was again seen in inferior leads. ECG changes disappeared, when sublingual nitroglycerin was administered. A diagnosis of vasospastic angina was made. Exercise test was negative, during treatment with calcium-blocking agents. The patient subsequently remain free of symptoms taking medication. The physiological mechanisms of vasospastic angina and precipitating factors are discussed.

Adult↗

PubMed1999

Oncocytic and granular cell neoplasms of the central nervous system and pituitary gland.

Oncocytic transformation is an infrequent event within the central nervous system and is limited to neoplasms of the choroid plexus, meninges, and pituitary gland. Oncocytic modifications in choroid plexus tumors seem to occur predominantly in adult patients and in the fourth ventricle and do not seem to reflect any particular biological behavior. Meningiomas showing oncocytic differentiation have been recently described and this variant probably behaves more aggressively. Pituitary oncocytomas are regarded as a subtype of null cell adenomas. Oncocytic tumors have a significantly higher risk of progression with a higher recurrence rate after radiotherapy. Oncocytic changes in astrocytic neoplasms are rare. More frequently, astrocytomas can show granular changes that result in neoplasms composed of cells with granular cytoplasm and eccentric nuclei resembling foamy macrophages. Granular cell astrocytomas may mimic non-neoplastic lesions such as cerebral infarction and demyelinating disease. Cells with granular bodies are frequent in pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and ganglion cell tumors. Their presence is considered a useful diagnostic finding to distinguish these low-grade lesions from malignant gliomas. A rare neoplasm is the granular cell tumor of the infundibulum that, when symptomatic, has to be differentiated from pituitary adenomas and other more common lesions of the sellar region.

Adenoma↗

PubMed2002

[Medical treatment of central giant cell granuloma of the jaws].

Central giant cell granuloma (CGCG) is a benign intraosseous lesion of the jaws that is found predominantly in children and young adults. The lesion appears mostly in the mandible and presents as a unilocular or multilocular radiolucent defect. Although it is benign, it may be locally aggressive, causing extensive bone destruction, tooth displacement and root resorption. Two variants of the lesion, non-aggressive and aggressive, have been described. Traditionally, CGCG was treated surgically with aggressive curettage and peripheral ostectomy. The more aggressive type or recurrent lesions require wide resection, that lead to major defects in the jaws. This form of surgical treatment could be particularly disfiguring for a child or young adult. An alternative, non-surgical approach, was developed during the past several years. The present review describes several medical treatments available for CGCG that have been reported in the literature, such as corticosteroids, calcitonin and Interferon Alfa-2a. These alternatives are advantageous for large aggressive lesions in order to cure, or reduce the size of the lesion and thus minimize the need for extensive surgical resection that could result in functional and esthetic deficits.

Adrenal Cortex Hormones↗

PubMed1983

[Genetic analysis of stomach cancer and precancerous states].

This report is devoted to the genetic study of stomach cancer within the limits of classic and multiple models. Also, analysis of phenotypic and genetic correlations in the system of stomach cancer--pre-cancer and that of the association of this disease with genetic markers were conducted. The reliable dependence of the development of stomach cancer on genetic factors is shown and its genetic stipulation with individual forms of ulcer disease and gastritic is determined. The problem of their genetic heterogeneity has been discussed based on these findings. The values of recurrence risk of the development of stomach cancer in population of Moscow and those of the expressivity of connection of ulcer disease forms and stomach cancer with genetic variants of the ABO and Rhesus systems were obtained.

ABO Blood-Group System↗

PubMed1983

Primary nasal polyposis.

Twenty patients with nasal polyposis, either asymptomatic or with persistent nasal obstruction, were studied prospectively. Fourteen of 18 patients when free of obstructing polyps had no ongoing nasal symptoms. Nasal secretion eosinophilia of greater than or equal to 20% was demonstrated in 19/20 patients. Prick skin tests and RAST were positive to inhalant allergens with poor clinical correlation in 10/20 patients. Mean total eosinophil count and mean total serum IgE, IgA, IgG and IgM were normal. Sinus roentgenograms were consistent with sinusitis in 11/20 patients. Methacholine bronchial provocation was positive in 11/19 patients. Aspirin challenge was negative to 650 mg and 3250 mg in 18/18 and 8/8 patients respectively. Serum salicylate levels two hours post 3250 mg aspirin challenge had a mean of 18.5 mg/dl. HLA typing to the A and B loci revealed no specific pattern. Patients with primary nasal polyposis are characterized by nasal secretion eosinophilia, lack of ongoing symptoms when free of obstructing polyps, increased frequency of cholinergic bronchial hyper-reactivity, increased susceptibility to recurrent or chronic sinusitis, lack of aspirin sensitivity and high frequency of inhalant prick skin test and RAST positivity without correlation to symptoms. These patients may represent a variant of the syndrome involving nasal polyposis, bronchial asthma and bronchospastic reactions to aspirin and related drugs.

Adolescent↗

PubMed1995

[Long-term results in pediatric orthopedics].

Whether to treat deformities in childhood or even to operate on them is a difficult decision which may affect a patient's whole life. Most important is a sound knowledge of the natural course. Many 'deformities' are just normal variants, and others improve during the growth period, but some get worse and may cause damage in later life. However the outcome of operations is not always certain. Recurrence may occur as well as overcorrection; therefore, the long-term prognosis, with or without treatment, must be the guideline for indications. If an operation is considered, timing and extent of a correction are decisive. On the grounds of long-term outcome studies, guidelines can be established for the treatment of different diseases and deformities: upper extremities [dysmelia, elbow], spine [scoliosis, Scheuermann's disease, spondylolisthesis], hip (congenital dysplasia, Perthes' disease, slipped epiphysis), knee and feet (flatfoot, pes equinovarus).

Adolescent↗

PubMed1995

Erythema multiforme, Stevens-Johnson Syndrome, and toxic epidermal necrolysis.

The protean manifestations of erythema multiforme range from minor variants through Stevens-Johnson Syndrome, bullous erythema multiforme, and toxic epidermal necrolysis. Herpes simplex virus is a common etiologic agent for minor varieties particularly if they are recurrent. Certain drugs also cause severe varieties of erythema multiforme. Although no form of therapy is recognized as generally effective, many are used in treating this group of diseases. Local wound care is also important.

Diagnosis, Differential↗

PubMed1998

Osteochondromalike parosteal osteosarcoma: a report of six cases of a new entity.

OBJECTIVE: Our purpose was to describe a rare juxtacortical bone sarcoma with deceptively benign, osteochondromalike histologic characteristics. We present criteria by which this low-grade malignant neoplasm can be distinguished from other benign and malignant surface lesions of bone with particular emphasis on the imaging features. MATERIALS AND METHODS: Six cases of a low-grade, chondroossifying parosteal sarcoma of bone were reviewed. Patients included four males and two females 11 months to 66 years old. Histologic findings from initial tumors and from recurrent tumors were reviewed. Two musculoskeletal radiologists analyzed the imaging studies, which included plain films, CT scans, MR images, and a bone scan. RESULTS: Histologically, the lesions were characterized by a thin layer of proliferating, periosteally derived spindle cells overlying a thin, low-grade malignant cartilage cap that underwent calcification, neovascularization, and conversion into benign bone and marrow fat. These lesions were unique in that the malignant elements were only at their periphery. All six cases were initially misdiagnosed as benign lesions on pathologic evaluation. In each patient, imaging revealed a "pasted-on" ossified surface lesion with an intact underlying cortex and no medullary involvement. In three cases, recurrent tumors had histologic appearances consistent with conventional parosteal osteosarcoma. Dedifferentiation, metastases, and death occurred in one of these three cases. CONCLUSION: To our knowledge, this surface lesion of bone has not been specifically described. Whether this tumor constitutes a distinct entity or is a specialized variant of parosteal osteosarcoma is unclear. Precise radiologic-pathologic correlation is essential for appropriate diagnosis and management.

Adolescent↗

PubMed2005

Distinction of desmoplastic melanoma from non-desmoplastic melanoma by gene expression profiling.

Desmoplastic melanoma (DM) is a variant of melanoma characterized by the presence of amelanotic fusiform melanocytes dispersed in a prominent collagenous stroma. DM behaves differently from conventional non-desmoplastic melanoma (NDM). It has a higher tendency for local recurrence and is less likely to metastasize to regional lymph nodes. In this study, we explored the possibility of distinguishing DM from NDM by gene expression profiling. RNA samples from ten primary cutaneous melanomas of similar depth of invasion were analyzed using the Affymetrix U133A oligonucleotide platform. Four tumors were DM, five were ND, and one tumor showed combined features of desmoplastic and conventional. Hierarchical cluster analysis clearly separated DM from NDM. The expression of a number of melanocyte differentiation genes was decreased in DM compared with NDM, which corresponded to immunohistochemical results. Various genes were upregulated in DM, including neurotrophic factors and genes involved in extracellular matrix production. A novel finding was the high expression of clusterin in DM, which was confirmed by immunohistochemical studies. Our results from gene expression profiling validate the distinction of DM from NDM. They also provide the opportunity to learn more about the biology of DM which had previously not yet been associated with this variant of melanoma.

Biomarkers, Tumor↗

PubMed1977

Myxoid variant of malignant fibrous histiocytoma.

It has been generally recognized that malignant fibrous histiocytoma (MFH) may assume a highly myxoid, hypocellular appearance. Eighty cases of malignant fibrous histiocytoma having varying degrees of myxoid change were reviewed. These tumors typically arose on the extremities (leg, 61%; arm, 21%) of adults (peak age incidence, 60-69 years). They were usually attached to fascia (31%) or involved skeletal muscle (51%) and had a mucoid or translucent appearance. The myxoid areas consisted of widely spaced spindled and pleomorphic cells embedded in a matrix of acid mucopolysaccharides. The cellular areas were indistinguishable from those of the typical pleomorphic MFH. The rate of local recurrence of these tumors was 61%, and of metastasis, 23%, but metastasis was less likely when the tumor was small, superficially located, or had a prominent myxoid component. In fact, the degree of myxoid change was inversely related to the rate of metastasis. Therefore, because of the more favorable prognosis of the myxoid variant, it seems appropriate to separate it from the usual nonmyxoid form of MFH. The myxoid variant must also be clearly distinguished from benign myxoid lesions such as myxoma or nodular fasciitis, with which it is often confused.

Adult↗

PubMed2006

High nuclear expression of the apoptosis inhibitor protein survivin is associated with disease recurrence and poor prognosis in laryngeal basaloid squamous cell carcinoma.

CONCLUSION: Nuclear expression of survivin should be studied as a promising marker of higher-risk laryngeal basaloid squamous cell carcinomas (BSCCs), which can then be treated more aggressively and followed more closely. OBJECTIVE: BSCC is an uncommon bimorphic variant of SCC. The hypothesized greater aggressiveness and poorer prognosis of head and neck BSCC compared to SCC are still under debate. The regulation of apoptotic cell death has a profound effect on the pathogenesis and progression of malignancies. Survivin is the smallest member of the inhibitor of apoptosis gene family. The aim of this study was to investigate for the first time the expression of the inhibitor of apoptosis protein survivin in laryngeal BSCCs and their neck lymph node metastases and to compare the results with those obtained with conventional SCCs. MATERIAL AND METHODS: Immunoreactivity to survivin was determined in nine laryngeal BSCCs and nine site- and stage-matched SCCs. RESULTS: A nuclear subcellular localization of survivin dominated in both primary laryngeal BSCCs and SCCs and in their lymph node metastases. There was no significant difference in mean survivin expression between primary laryngeal BSCCs (25.1%) and SCCs (25.6%) (p=0.86). Nuclear survivin expression was significantly higher in BSCCs associated with disease recurrence and poor prognosis (p=0.02).

Adult↗

PubMed2026

A Novel BRCA1 Pathogenic Variant in Tunisian Patient With High Grade Ovarian Cancer: Favorable Therapeutic Response to Olaparib.

BACKGROUND: Ovarian cancer is one of the leading causes of death from gynecological cancer worldwide. Genetic mutations in genes involved in key cellular functions such as BRCA1/2 play a central role in tumorigenesis and have major implications for targeted therapeutic strategies, especially the use of poly (ADP-ribose) polymerase (PARP) inhibitors. CASE: Herein, we described a case of a 50-year-old woman diagnosed with severe anemia secondary to heavy menometrorrhagia. Initial gynecological evaluation, including transvaginal ultrasound, was unremarkable, and endometrial biopsy was not indicated. Imaging revealed no ovarian abnormalities; however, exploratory laparotomy identified a peritoneal nodule, leading to further investigation. Targeted NGS was performed on somatic and germline DNA samples and showed a frame shift deletion of 10 bp (c.1256_1265del: p.R419Ter) in the BRCA1 gene. This variant, identified only in tumor tissues, is novel and classified as pathogenic in ClinVar and ACMG databases. Additional somatic alterations were detected in TP53 and MSH6, while germline testing revealed only a variant of uncertain significance in BARD1. After first-line chemotherapy, the patient benefited from olaparib and achieved a progression-free survival of 23 months with good tolerance and no evidence of disease recurrence. CONCLUSION: This finding highlights the importance of integrating tumor-based genomic profiling with germline testing to identify actionable mutations and guide precision oncology. The identification of a novel somatic BRCA1 mutation expands the mutational spectrum of HGSOC and underscores the need to include underrepresented populations, such as those from North Africa, in genomic studies.

Humans↗

PubMed2005

Adenocarcinoma of the nose and paranasal sinuses: a retrospective study of diagnosis, histologic characteristics, and outcomes in 24 patients.

BACKGROUND: Adenocarcinomas of the sinonasal cavity are unusual tumors with variable clinical courses. METHODS: We conducted a retrospective chart review between 1980 and 2001. RESULTS: Twenty-four patients (17 men) with sinonasal adenocarcinoma were identified. Nasal obstruction was the most common presenting symptom (75%), and the nose was the most common site of involvement (83%). Eleven tumors (46%) were high grade (grade 3 or 4). Twenty-three patients (95%) underwent an attempt at surgical excision with tumor recurrence or residual disease in seven. Age and tumor grade were associated with overall survival, and tumor grade and intracranial extension were associated with death from disease. CONCLUSIONS: Presentation and treatment for nasal adenocarcinoma varies widely. Some low-grade variants of nasal adenocarcinomas seem to be associated with a more favorable prognosis and, depending on the extent of the tumor, can be treated with less-aggressive therapy.

Adenocarcinoma↗

PubMed2001

HLA-G genotypes and pregnancy outcome in couples with unexplained recurrent miscarriage.

HLA-G is a non-classical human leukocyte antigen expressed primarily in fetal tissues at the maternal-fetal interface. This expression pattern is unique among HLA genes and suggests that HLA-G may be involved in interactions that are critical in establishing and/or maintaining pregnancy. To evaluate the role of polymorphisms at this locus in maternal-fetal interactions, 113 couples with unexplained recurrent miscarriage were genotyped for seven polymorphisms that define 12 HLA-G alleles. Logistic regression analysis was used to assess whether HLA-G genotypes were associated with an increased risk for a subsequent miscarriage. The presence of an HLA-G*0104 or HLA-G*0105N allele in either partner was significantly associated with an increased risk for miscarriage, after adjustment for maternal age, number of previous miscarriages, history of a previous liveborn, and treatment with paternal mononuclear cells. The *0104 and *0105N alleles are defined by polymorphisms in the alpha-2 domain and encode protein variants that are present only in the full-length HLA-G1 protein. The significant genotype-specific risk in this population suggests that allelic variation in the alpha-2 domain of the HLA-G1 isoforms contributes to recurrent miscarriage.

Abortion, Habitual↗

PubMed1983

[Coronary artery spasm. Apropos of 165 cases].

This study comprised 165 cases of coronary artery spasm (147 men and 18 women) with an average age of 49,2 years (range 27 to 73 years). Smoking was a particularly significant risk factor. Symptoms were usually of recent onset (80%) and dominated by attacks of angina pectoris either at rest alone or associated with angina of effort. 14% of cases of spasm were observed during acute myocardial infarction. Some cases presented with syncope due to cardiac arrhytmias. The basal electrocardiogramme was normal in 53% of cases. Exercise stress testing may be normal (30/65 cases) or positive (ST depression recorded in 26/65 cases). In 5 cases, ST elevation was observed. Left ventricular function was usually normal: 115 patients (70%) had organic atherosclerotic lesions, with 1, 2 and 3 vessel disease in 40%, 18% and 22% respectively. Spasm was spontaneous in 24,2% of cases but most commonly provoked by ergometrine. Criteria of spasm only applied to focal spasm and exclused catheter--induced spasm. The most common site of spasm was the right coronary artery (50,3% of cases), followed by the left anterior descending (31% of cases) and left circumflex (10,3% of cases). The outcome of these 165 cases depended on the therapeutic options (surgical treatment in 48 cases). The medium term results were generally good with a low mortality rate and follow up showed that the calcium antagonists provided effective prophylaxis against recurrence of spasm.

Adult↗

PubMed1999

Donor polymorphism of tumor necrosis factor gene: relationship with variable severity of hepatitis C recurrence after liver transplantation.

BACKGROUND: Hepatitis C-related liver failure is the leading indication for liver transplantation worldwide. Although histologic recurrence is identified in the majority of patients, the spectrum of allograft injury is wide. To date, most studies have focused on the contribution of immunosuppression and viral factors. We hypothesized that the allograft plays a significant role in determining timing and severity of hepatitis C virus (HCV) recurrence. The purpose of this analysis was to determine if genetic polymorphisms of the tumor necrosis factor (TNF) locus were associated with the highly variable severity of HCV recurrence. METHODS: Thirty-one HCV-seropositive liver transplant recipients with long-term follow-up were studied. Genomic DNA was extracted from archived donor spleens which corresponded to each patient. We performed polymerase chain reaction amplification, followed by sequencing for two promoter TNF-alpha variants (at positions -238 and -308), and restriction fragment length analysis for four polymorphic loci within the TNF-beta gene (NcoI, TNFc, aa13, and aa26). RESULTS: The relative prevalence of polymorphisms corresponded to distributions previously reported in normal control populations. Twenty-two of 31 (71%) patients received a donor liver homozygous for the wild type allele (TNF1) at the -308 TNF-alpha promoter region. The interval to histologic recurrence was significantly shorter and severity of HCV allograft hepatitis was significantly greater in patients with one or two TNF308.2 alleles. At last follow-up biopsy, 5 of 9 (56%) patients with a TNF308.2 donor liver had evidence of severe histological activity index as compared to 2 of 22 (9%) of patients receiving a donor liver homozygous for the TNF1 allele (P = 0.01). There was no correlation between rejection rates and the presence of any TNF-alpha or TNF-beta alleles. TNF-beta polymorphisms within the donor liver did not correlate with severity of HCV recurrence. CONCLUSIONS: The donor TNF-alpha promoter genotype may influence the inflammatory response to HCV reinfection of the graft and contribute to accelerated graft injury. If the association between this genetic marker (TNF308.2) and disease progression is confirmed, it could improve our understanding of HCV pathogenesis and influence donor selection and patient management.

Alleles↗

PubMed2005

Gene therapy for lipoprotein lipase deficiency: working toward clinical application.

Lipoprotein lipase (LPL) deficiency causes hypertriglyceridemia and recurrent, potentially life-threatening pancreatitis. There currently is no adequate treatment for this disease. Previously, we showed that intramuscular administration of an adeno-associated virus serotype 1 (AAV1) vector encoding the human LPL(S447X) variant cDNA (AAV1-LPL(S447X)) normalized the dyslipidemia of LPL-/- mice for more than 1 year. In preparation for a clinical trial, we evaluated the safety and biodistribution of AAV1-LPL(S447X) in wild-type mice and fully characterized six LPL-deficient patients. Toxicological analysis in mice showed that intramuscular administration was well tolerated. Acute inflammatory response markers were transiently increased, and anti- AAV1 antibodies were generated. Histological analyses indicated a dose-dependent reversible spleen hyperplasia, and myositis at the injection sites. Biodistribution data showed short-term vector leakage from injection sites into the circulation, followed by liver-mediated clearance. Persistence of vector DNA was limited to the injected muscle and draining lymph nodes, and spread to reproductive organs was limited. Characterization of LPL-deficient patients showed that all patients presented with hypertriglyceridemia and recurrent pancreatitis. LPL catalytic activity was absent, but LPL protein levels were 20-100% of normal. Myoblasts derived from skeletal muscle biopsies of these patients were efficiently transduced by AAV1-LPL(S447X) and secreted active LPL. These data support the initiation of a clinical trial in LPL-deficient patients, for which regulatory approval has been granted.

Animals↗

PubMed2006

Long-term outcome following laparoscopic adrenalectomy for large solid adrenal cortex tumors.

INTRODUCTION: Laparoscopic adrenalectomy (LA) is the procedure of choice for small benign adrenal tumors. In the absence of local invasion or metastases, the preoperative diagnosis of an adrenocortical carcinoma (ACC) is difficult, often leaving size as the principal predictor of malignancy. Large tumors are resectable laparoscopically, but the long-term outcome and therefore appropriateness of LA for cortical tumors > 6 cm is not known. METHODS: We reviewed the LA experience in our institution since its introduction in June 1994. Patients who underwent LA for solid cortical tumors > or = 60 mm in diameter without preoperative or intraoperative evidence of malignancy were reviewed. Follow-up data, including clinical examination, biochemical analysis, and repeat scans, were reviewed for evidence of local or systemic recurrent disease. RESULTS: Between 1994 and 2004 a total of 462 adrenalectomies were performed, 391 of which were done laparoscopically. Among them, 19 were solid cortical tumors > or = 60 mm in diameter with no overt malignant preoperative or intraoperative characteristics: 9 nonsecreting tumors, 8 Cushing's syndrome tumors (including 2 virilizing variants), 1 virilizing tumor, and 1 aldosteronoma. The mean age of the patients was 49.9 years (range 22-77 years), and the mean tumor size was 69.0 mm (range 60-80 mm). Histology confirmed a cortical adenoma in eight patients, malignant tumors in three, and indeterminate tumors in eight. The mean follow-up was 34 months (range 4-108 months). Two patients died of systemic recurrent disease (liver metastases) at 10 and 19 months, respectively, following surgery; two other patients died 12 and 21 months, respectively following surgery owing to unrelated cardiovascular and cerebrovascular pathology. One patient underwent surgery for local recurrence 54 months after primary surgery; the remaining 14 patients are well with no clinical or radiologic evidence of recurrent disease. CONCLUSIONS: Laparoscopic adrenalectomy for large solid cortical tumors without pre- or intraoperative evidence of malignancy is not contraindicated, and it is unlikely to have a deleterious effect on long-term outcome. Each case should be considered individually. We provide an algorithm for the approach to adrenocortical tumors > or = 6 cm.

Adrenal Cortex Neoplasms↗