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PubMed1992

Spontaneous coronary arterial dissection and isolated eosinophilic coronary arteritis: sudden cardiac death in a patient with a limited variant of Churg-Strauss syndrome.

Isolated eosinophilic coronary arteritis expressed as a limited variant of the Churg-Strauss syndrome (allergic granulomatosis and angiitis) is a rare condition. Equally as rare is the entity of isolated spontaneous coronary arterial dissection associated with eosinophilic arteritis. A 57-year-old woman with a history of asthma and recurrent hypersensitivity (anaphylactoid) reactions to various exogenous allergens was found dead in her home; no premonitory complaints had been noted during the preceding days. Autopsy revealed focal occlusion of the left anterior descending and first diagonal coronary arteries by discrete dissecting hematomas of the media as the cause of sudden and unexpected death. Histologically, the affected arterial wall showed eosinophilic inflammation characteristic of this limited expression of the Churg-Strauss syndrome. To our knowledge, sudden cardiac death caused by arterial dissection in isolated eosinophilic coronary arteritis has not previously been reported.

Arteritis↗
PubMed1995

Cranial fasciitis: presentation as a post-auricular mass.

Cranial fasciitis is a rare variant of nodular fasciitis. It is a benign condition with features resembling sarcoma, seen principally in young males. It involves the skull bones and grows at a rapid pace. Accurate diagnosis and surgical excision is the key to management. Prognosis is good with recurrence rare. By 1992, 17 cases had been reported in the literature. The present case is the first reported in Pakistan. It presented as a post-auricular mass.

Child, Preschool↗
PubMed2005

Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia.

BACKGROUND: Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm and painful hands and/or feet. In a previous study we reported localization of a gene for primary erythermalgia to a 7.94-cM region on chromosome 2q. A recent study reported voltage-gated sodium channel gene SCN9a sequence variants in a family and a single individual with primary erythermalgia. OBJECTIVES: To describe the clinical characteristics of a large three-generation family with primary erythermalgia and to test for genetic linkage to chromosome 2q. METHODS: We collected clinical data of a 10-member three-generation family with autosomal dominant primary erythermalgia. In addition, we performed linkage analysis and searched for SCN9a variants using a restriction fragment length polymorphism assay. RESULTS: We established the diagnosis of autosomal dominant primary erythermalgia in six of 10 family members. We excluded linkage to chromosome 2q and could not detect SCN9A variants in this family. CONCLUSIONS: In this family with autosomal dominant primary erythermalgia, exclusion of linkage to chromosome 2q is strongly suggestive for genetic heterogeneity.

Adult↗
PubMed1994

Pseudorheumatoid nodule (deep granuloma annulare) of childhood: clinicopathologic features of twenty patients.

Pseudorheumatoid nodule of childhood is seen uncommonly by pathologists and is thought to be a variant of granuloma annulare. We report a series of 20 patients (13 M, 7 F) age 1 to 17 years. Fourteen lesions arose on the front of the lower limb, and 14 children had numerous lesions at diagnosis. Seven developed some form of recurrence, except for one case occurring at the site of the original lesion. Only one patient had a weakly positive rheumatoid factor, and was the patient with remote recurrence. As a significant number of lesions arose around the foot when the child was beginning to walk or starting to wear shoes, it is suggested that trauma plays a role in the development of some of these lesions.

Adolescent↗
PubMed1999

Mediterranean diet and coronary heart disease: are antioxidants critical?

There is substantial evidence that several variants of the Mediterranean diet reduce the incidence of coronary heart disease (CHD) and perhaps other chronic conditions. Recently, the final results of the Lyon Diet Heart Study, a randomized secondary prevention trial, indicated that the Mediterranean diet substantially reduces the rate of recurrence after a first myocardial infarction. Data from this study also suggest that the Mediterranean diet protects against CHD through mechanisms that are independent of traditional CHD risk factors. We postulate that the antioxidant properties of several plant foods in the Mediterranean diet may be critical mediators of the beneficial effects of this diet.

Antioxidants↗
PubMed2003

Community-acquired poliovirus infection in children with primary immunodeficiencies in Tunisia.

The global polio eradication program recommends the use of massive vaccination campaigns with live vaccine through National Immunization Days (NIDs) to displace the wild virus from the community. Immunodeficient patients may be indirectly infected and become chronic excretors and potential reservoirs of polioviruses, a concern for the posteradication era. This prospective study aimed to assess the risk of community-acquired infection of immunodeficient patients following NIDs, the dynamics of viral excretion and the genetic variation of excreted viruses. Sixteen children with various primary immunodeficiencies, who did not receive the vaccine during the campaign, were investigated. Stool samples were collected weekly, shortly after the NIDs, during at least 3 months, and were processed for viral isolation. Isolates were characterized by three intratypic differentiation methods and partial sequencing of the VP1/2A region. Polioviruses were detected in 4 out of 16 patients (serotype 1 in 3 patients and serotype 3 in 1 patient). Sequencing revealed more than 99% homology with homotypic Sabin strains, suggesting recent infection. Duration of viral excretion ranged from 1 to 7 weeks. Nine out of eleven isolates from the three poliovirus serotype 1-infected patients disclosed a non-Sabin-like phenotype by enzyme-linked immunosorbent assay and had recurrent mutations within or close to the neutralizing antigenic sites. In summary, the risk of secondary infection in immunodeficient patients is within the range previously reported for the general population. Although none of the four infected patients developed prolonged viral excretion, particular viral variants were selected and may be of epidemiological significance.

Child↗
PubMed2000

Ischemic cardiovascular disease and Helicobacter pylori. Where is the link?

Coronary heart disease (CHD) is the leading cause of death in western countries. Although several major risk factors have been identified, they fail to account for all the epidemiological variants of the disease, thus warranting research into novel causal agents. Cardiovascular diseases have long been associated with chronic infections acting through the activation of inflammatory pathways, and antibiotic therapy has been shown to produce a dramatic decrease in the rate of disease recurrence in patients with a history of myocardial infarction or unstable angina. The link between Helicobacter pylori (H. pylori) infection and CHD, first described by Mendall et al. in 1994, has been the subject of a multitude of epidemiological and clinical studies; however, these have been so heterogeneous that not two of them are based on a comparable selection of patients and focused on the same kind of disease, e.g. stable coronary heart disease or acute myocardial infarction. Evidence from animal studies supports the thesis that H. pylori plays an extremely important role in the acute phase of myocardial infarction: the bacterium causes platelet aggregation and induces pro-coagulant activity in experimentally infected mice. H. pylori may also contribute to atherosclerosis through an auto-immune process against endothelial cells or an increased concentration of homocysteine in the blood due to decreased levels of folic acid and cobalamin. The exact role of H. pylori cannot yet be fully assessed: there is a clear and present need for further studies with appropriate epidemiological and clinical approaches to investigate through prospective and interventional trial the possible causal relationship between H. pylori and CHD.

Animals↗
PubMed1988

Intravenous leiomyomatosis of the uterus. A clinicopathological analysis of 16 cases with unusual histologic features.

We describe 16 cases of intravenous leiomyomatosis of the uterus with unusual histologic features. Most of the patients, who ranged in age from 28 to 76 years (median, 42 years), presented with abnormal uterine bleeding or pelvic pain. On pelvic examination, they had an enlarged uterus. Extension of tumor into the broad ligament was noted at operation in six patients; it was documented on pathologic examination in an additional three cases. Gross examination disclosed enlargement of the uterus by solitary or multiple masses; wormlike plugs of tumor within myometrial veins were noted on initial examination in only five cases. Histologic examination in each case revealed proliferations of benign-appearing smooth muscle within myometrial vessels, at least some of which were large veins. The tumors differed from typical intravenous leiomyomatosis (IVL). They were classified as cellular IVL (six cases), epithelioid IVL (four cases), IVL with bizarre nuclei (two cases), intravenous lipoleiomyomatosis (two cases), myxoid IVL (one case), and IVL with an endometrial component (one case). Of 13 patients with follow-up information, 11 are alive with no evidence of disease or have died of unrelated causes at postoperative intervals of 0.5 to 19 years. One patient underwent resection of pelvic recurrent tumor 2 years postoperatively and was alive with no evidence of disease 2 years later. Another patient had pulmonary metastases 9 years postoperatively, but was alive with stable disease after an additional 6 years. This analysis indicates that most of the histologic variants of benign uterine leiomyoma can exhibit the intravascular growth pattern of IVL. These variants of IVL, except for their cellular composition, resemble typical IVL in both their clinical and pathological features. They should be distinguished from other tumors, particularly endometrial stromal sarcoma and leiomyosarcoma, which differ in their behavior and management.

Adult↗
PubMed1997

Evaluation of soluble CD44 splice variant v5 in the diagnosis and follow-up in breast cancer patients.

Aberrant expression of CD44 splice variants has been detected on a variety of human tumor cells. Overexpression of specific isoforms has been shown to be associated with metastasis and poor prognosis in breast cancer. We evaluated the possible utility of soluble CD44 splice variant v5 (sCD44v5) as a circulating, tumor-associated marker in breast cancer patients. Serum levels of sCD44v5 were determined in 147 healthy volunteers, in 53 patients with nonmalignant breast disease, in 85 patients with breast cancer at presentation, in 13 patients with recurrence and in 73 patients with active metastatic disease. Statistically, the levels at presentation in stages I-IV, in benign disease, and in a female control group were not significantly different. First longitudinal studies over 1-2 years in the follow-up of 28 patients who have remained tumor-free showed considerable between-patient variation while the intrapatient levels remained within relatively narrow limits. In patients with active metastatic disease, elevated levels of sCD44v5 (> 58 ng.ml-1) were detected in 50% of the cases with marked elevation in only 26%. In these cases, sCD44v5 correlated with the extent of metastatic disease and fell during clinical response to cytoreductive therapy. In comparison with CA15-3 in the patients' follow-up serum levels of sCD44v5 proved to be much less sensitive concerning lead time, percentage of raised serum levels at the time of recurrence and in metastatic disease. The value of sCD44v5 determinations in breast cancer patients was further limited by the poor diagnostic specificity of this marker due to elevated levels in smokers and chronic inflammatory disease.

Alternative Splicing↗
PubMed2006

Case-control study of the parkin gene in early-onset Parkinson disease.

BACKGROUND: Mutations in parkin are estimated to account for as much as 50% of familial Parkinson disease (PD) and 18% of sporadic PD. Single heterozygous mutations in parkin in both familial and sporadic cases may also increase susceptibility to PD. To our knowledge, all previous studies have been restricted to PD cases; this is the first study to systematically screen the parkin coding regions and exon deletions and duplications in controls. OBJECTIVE: To determine the frequency and spectrum of parkin variants in early-onset PD cases (aged < or =50 years) and controls participating in a familial aggregation study. PATIENTS AND METHODS: We sequenced the parkin gene in 101 cases and 105 controls. All cases and controls were also screened for exon deletions and duplications by semiquantitative multiplex polymerase chain reaction. RESULTS: Thirteen (12.9% [95% confidence interval, 7%-21%]) of the 101 cases had a previously described parkin mutation: 1 was homozygous, 11 were heterozygous, and 1 was a compound heterozygote. The mutations Arg42Pro (exon 2) and Arg275Trp (exon 7) were recurrent. The previously reported synonymous substitution Leu261Leu (c.884A>G) was identified in 4 (3.9%) of 101 cases and 2 (2%) of 105 controls (P = .44). Excluding the synonymous substitution Leu261Leu (heterozygotes), 10 (9.9% [95% confidence interval, 4.6%-17.5%]) carried mutations. CONCLUSIONS: The frequency of mutations among cases that were not selected based on family history of PD is similar to what has previously been reported in sporadic PD. The similar frequency of Leu261Leu in cases and controls suggests it is a normal variant rather than a disease-associated mutation. We confirmed that heterozygous parkin mutations may increase susceptibility for early-onset PD.

Age of Onset↗
PubMed1996

Medullocytoma (lipidized medulloblastoma). A cerebellar neoplasm of adults with favorable prognosis.

This study describes three cases of neuroectodermal cerebellar neoplasms occurring in adults, characterized by a monomorphic population of round cells with scanty cytoplasm and focal areas of lipid accumulation. Astrocytic and neuronal differentiation was confirmed in these cells by glial fibrillary acidic protein and synaptophysin immunoreactivity. Electron microscopy performed in two cases showed neuritic processes, synapses, and dense-core granules. Patients included two men and one woman, and the age at diagnosis was 36, 37, and 57 years, respectively. Two patients refused any postoperative treatment. One of these had two surgically removed recurrences after 10 and 11 years and died postoperatively from intracranial hemorrhage. The second had two recurrences after 10 and 15 years and is alive and in good health at the last follow-up. The third patient received postoperative radiotherapy and is alive and well after 2 years. Review of the literature revealed seven cases of cerebellar neoplasms with histological features similar to those observed in our series. These lesions have been considered a variant of medulloblastomas. The age of patients ranged from 42 to 77 years (mean age, 51 years); four were women, 3 men. Follow-up information available in two cases indicates a 5-year survival with surgery alone. These data indicate that these cerebellar neuroectodermal neoplasms have morphologically unique features and indolent biologic behavior that distinguish them from the highly aggressive medulloblastoma; the term medullocytoma for this form is suggested.

Adipocytes↗
PubMed1995

Ventral pancreatitis in a patient with pancreas divisum.

Pancreas divisum results in drainage of most pancreatic secretions through the minor papilla via the dorsal duct, and the association of minor papilla stenosis has been implicated as a cause of pancreatitis. Most of the reported cases represent pancreatitis confined to the dorsal part. The authors treated a 10-year-old boy with recurrent pancreatitis that was substantially more severe in the ventral part. The patient was referred with a brief history of abdominal pain and had undergone a laparotomy when segmental ventral pancreatitis had been observed. Severe pancreatitis and acute renal failure developed, which required drainage of the lesser sac and hemodialysis, respectively. After 5 months, he had another episode that subsequently led to a pseudocyst in the ventral part. Endoscopic retrograde cholangiopancreatography via minor papilla showed a normal-caliber dorsal duct communicating with a part of the fine ventral ducts. A normal biliary tree was shown, but no ventral duct was visualized by cannulation to the major papilla of Vater. Dual sphincteroplasties and a cholecystectomy were performed. The minor papilla was stenotic and admitted only the finest lacrimal duct probe. The orifice of the ventral duct could not be observed. Thus it was clarified that the dorsal duct with its stenotic orifice had drained both the dorsal and ventral pancreas. The patient has remained asymptomatic over 36 months postoperatively. Despite their limited experience, the authors believe that (1) this anatomic variant led to ventral pancreatitis, and (2) the sphincteroplasty of the minor papilla was successful.

Acute Disease↗
PubMed2005

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

BACKGROUND: Genetic testing for hereditary cancer syndromes contributes to the medical management of patients who may be at increased risk of one or more cancers. BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer is one such widely used test. However, clinical testing methods with high sensitivity for deleterious mutations in these genes also detect many unclassified variants, primarily missense substitutions. METHODS: We developed an extension of the Grantham difference, called A-GVGD, to score missense substitutions against the range of variation present at their position in a multiple sequence alignment. Combining two methods, co-occurrence of unclassified variants with clearly deleterious mutations and A-GVGD, we analysed most of the missense substitutions observed in BRCA1. RESULTS: A-GVGD was able to resolve known neutral and deleterious missense substitutions into distinct sets. Additionally, eight previously unclassified BRCA1 missense substitutions observed in trans with one or more deleterious mutations, and within the cross-species range of variation observed at their position in the protein, are now classified as neutral. DISCUSSION: The methods combined here can classify as neutral about 50% of missense substitutions that have been observed with two or more clearly deleterious mutations. Furthermore, odds ratios estimated for sets of substitutions grouped by A-GVGD scores are consistent with the hypothesis that most unclassified substitutions that are within the cross-species range of variation at their position in BRCA1 are also neutral. For most of these, clinical reclassification will require integrated application of other methods such as pooled family histories, segregation analysis, or validated functional assay.

Amino Acid Sequence↗
PubMed2004

[Phenotypic variants of A3243G mitochondrial DNA mutation in a Hungarian family].

The first Hungarian case with typical features of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) in a young girl is presented. MELAS is a multisystem disorder inherited by the mitochondrial DNA with onset typically in childhood. Our patient presented the first symptoms at the age of 6 years with recurrent vomiting, nausea and transient visual loss. Several stroke-like episodes followed gradually impairing motor abilities and mental development. Molecular analysis of the mitochondrial DNA confirmed a heteroplasmic A3243G transition. The maternal family members were also tested for the mutation in peripheral blood DNA. In the mother of the proband, who suffers from bilateral hypacusis the mutation was detected in 20% of heteroplasmy, while in one of her asymptomatic sisters the mutation was present in 10% only. The bilateral hypacusis of the mother may be associated with this mutation and seems to differentiate the pedigree reported here from others published in the literature.

Adenine↗
PubMedDate not supplied

Coexistence of malignant struma ovarii and Graves' disease.

OBJECTIVE: To report an unusual case of hyperthyroidism from Graves' disease that was coexistent with malignant struma ovarii. METHODS: We summarize the clinical history, physical findings, laboratory data, imaging studies, pathologic features, and treatment in a patient with recurrent hyperthyroidism and discuss the incidence of ovarian tumors of various histologic origins, including thyroid tissue (that is, struma ovarii). RESULTS: Five years after diagnosis of Graves' disease and resolution of symptoms with 1 year of antithyroid drug therapy, a 53-year-old woman had recurrence of palpitations, tremors, and weight loss. Results of thyroid function tests showed high total and free thyroxine levels and a low thyrotropin level. Thyroid radioiodine uptake was high (69% at 24 hours). Abdominal ultrasound studies disclosed a cystic mass in the right adnexal area. Total abdominal hysterectomy and bilateral oophorectomy revealed a 7.5-cm cystic right ovary that contained a 1.0-cm struma ovarii with a 0.4-cm nodule of follicular variant papillary thyroid carcinoma within it. The patient was treated with methimazole and radioiodine ablation of the thyroid. Three months later, a massive myocardial infarction resulted in her death. CONCLUSION: The concomitant presence of Graves' disease complicates the management of struma ovarii and raises interesting questions about treatment and prognosis.

Antithyroid Agents↗
PubMed1993

[Primary localized amyloidosis of the eyelid and conjunctiva].

Report on a case of amyloidosis in the orbits of a 81-year-old women with 20 year's follow up. At first examination she presented with cystic changes of the palpebral conjunctiva and spontaneous hematoma of the lid. Preceding diagnosis by biopsy six years of unspecific local therapy with various eye drops followed then by cryotherapy and two surgical interventions. Discussion of primary localized amyloidosis and other variants of amyloidosis and therapeutic approach.

Aged↗
PubMed1991

[Spinocellular cancers and myxoid atypical fibroxanthoma of an actinically damaged burn scar].

We report on a 66-year-old male patient suffering from several squamous cell carcinomas and a myxoid atypical fibroxanthoma of the skin. The tumours developed in burn scars that the patient had had for more than 50 years and that had in part undergone actinic elastosis. The role of burn scars in the development of different skin tumours is pointed out. In addition, we discuss the differential diagnosis of the rare myxoid variant of atypical fibroxanthoma.

Aged↗