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PubMed2005

Repositioning maneuver for the treatment of the apogeotropic variant of horizontal canal benign paroxysmal positional vertigo.

OBJECTIVE: The purpose of this study was to determine the effectiveness of a new physical maneuver in the treatment of the apogeotropic variant of horizontal canal benign paroxysmal positional vertigo. STUDY DESIGN: Case review. SETTING: Outpatient clinic. PATIENTS: The diagnosis of apogeotropic horizontal canal benign paroxysmal positional vertigo was based on the history of recurrent sudden crisis of vertigo associated with bursts of horizontal apogeotropic paroxysmal nystagmus provoked by turning the head from the supine to either lateral position. The patients were three men and five women ranging in age from 31 to 73 years (average, 49.2 yr). INTERVENTIONS: All patients were treated with a repositioning maneuver based on the hypothesis that the syndrome is caused by the presence of free-floating dense particles inside the endolymph of the anterior arm of the horizontal canal. The maneuver favors their shifting into the posterior arm of the canal. Patients were reexamined immediately after the treatment and underwent Gufoni's liberatory maneuver for the geotropic variant of horizontal canal benign paroxysmal positional vertigo. MAIN OUTCOME MEASURE: The treatment outcome was considered as responsive when, after one repositioning maneuver, nystagmus shifted from apogeotropic to geotropic. RESULTS: The repositioning maneuver resulted in a transformation from the apogeotropic variant into a geotropic variant of horizontal canal benign paroxysmal positional vertigo in all patients. CONCLUSION: This maneuver represents a simple and effective approach to the treatment of the apogeotropic variant of horizontal canal benign paroxysmal positional vertigo. It favors the shifting of the canaliths from the anterior into the posterior arm of the horizontal canal from where they can migrate into the utricle with Gufoni's maneuver.

Adult↗

PubMed2005

Mutation screen and association study of EZH2 as a susceptibility gene for aggressive prostate cancer.

BACKGROUND: Several linkage studies have provided evidence for a prostate cancer aggressiveness gene on chromosome 7q. This report details the results of the first mutation screen and association study of EZH2 (located at 7q35) as a potential candidate gene for the development of aggressive prostate cancer. METHODS: In 10 families with linkage of chromosome 7q31-33 to aggressive prostate cancer, we sequenced the promoter region and all 20 exons of EZH2. We genotyped 11 variants in 287 prostate cancer probands and 96 controls. Association between the disease and the variants/haplotypes was evaluated taking into account clinical data and disease recurrence. RESULTS: The individual variation sites did not show significant differences in the allele frequencies between cases and controls. In contrast, one haplotype had a higher frequency in controls, and another haplotype was significantly more frequent in cases with low grade tumors (GI/II) and progression free survival (NED). CONCLUSION: We have possibly identified haplotypes which mark alleles that have a beneficial effect on the development of prostate cancer. Moreover, our results suggest that genetic variations of the EZH2 gene are not responsible for the linkage of 7q to aggressive prostate cancer.

Adult↗

PubMed1989

Granulomatous angiopanniculitis of the breast.

The clinical and pathologic features of six examples of nonnecrotizing granulomatous angiopanniculitis (GAP) of the breast are reported. The patients presented with a solitary ill-defined breast mass causing clinical suspicion of carcinoma. Histopathologically, all lesions consisted of multiple nonnecrotic, noncaseous granulomas with a giant cell component predominantly involving the subcutaneous adipose tissue, extending into the underlying mammary tissue without affecting lobules or ducts. A nonleukocytoclastic lymphocytic angiitis involved small vessels and capillaries. None of the patients had a history of an autoimmune disorder or had previous diagnoses of erythema nodosum or multiforme, leukocytoclastic or nonleukocytoclastic vasculitis, or Weber-Christian disease. Treatment was limited to biopsy in all six patients. Studies for infectious agents on specimens were negative. Five of the six patients developed one or more recurrences in the breast or elsewhere on the body. Four patients experienced spontaneous regression of their recurrent lesions. GAP appears to be a self-limited disorder of uncertain etiology which involves the breast and other sites. It may represent a variant of Weber-Christian disease, as the two diseases share similar clinical and histologic features. GAP must be distinguished from causes of granulomatous inflammation of the breast for which specific medical therapy is available.

Adipose Tissue↗

PubMed2005

Comparison of clinical and angiographic features and longterm follow-up events between patients with variant angina and patients with ST elevation myocardial infarction.

We investigated to what extent patients with variant angina and significant coronary stenosis (>or=70%) present a clinical and angiographic profile similar to patients with ST elevation myocardial infarction. Thus, the clinical and angiographic features as well as follow-up events of 200 patients were prospectively analyzed and were compared with those of 422 patients with a first ST elevation myocardial infarction survivors of the early phase (3 days) and those of 70 patients with variant angina and non significant stenosis. Age and incidence of smoking, systemic hypertension, diabetes and maximum ST elevation were similar in the 2 groups. Furthermore, among patients with significant coronary stenosis, stenosis severity and the proportion of eccentric lesions were also comparable. Incidence of recent-within 30 days prior to admission-angina at rest was higher in variant angina patients with significant stenosis (67% vs. 27%, p<0.001) than in those with myocardial infarction but long standing angina at rest (>30 days) was low and comparable in these 2 groups (15% vs. 11%, ns). Also, in a 5-year follow-up most patients from these 2 groups were free from angina at rest (86% vs. 84%) which in variant angina patients was largely attributable to a high revascularization rate (72%). Moreover, the rate of myocardial infarction/cardiac death (20% vs. 19%) was also similar. Patients with variant angina and non-significant stenosis, however, had longer antecedent angina, more frequent follow-up angina and a lower incidence of cardiac events than the other 2 groups. Thus, these findings suggest that patients with variant angina and significant coronary stenosis generally behave as an acute coronary syndrome-likely associated with an acutely complicated plaque-rather than as recurrent vasospastic angina, and should be managed accordingly.

Angina Pectoris↗

PubMed2006

Annually recurring erythema annulare centrifugum: a distinct entity?

Four patients presenting a peculiar clinical variant of erythema annulare centrifugum are reported. The lesions were clinically and histopathologically indistinguishable from classic superficial erythema annulare centrifugum but constant annual and seasonal recurrences for many years or decades were observed. No clear precipitating factor could be identified. No associated symptoms were present and the eruption regressed spontaneously after a variable period of days to months. Annually recurring erythema annulare centrifugum seems to represent a rare distinct clinical entity that has received little attention in literature. Clinicopathologic features of this peculiar clinical disorder and the differential diagnosis with other recurrent seasonal eruptions are reviewed.

Aged↗

PubMed2002

Physiology and antibiotic susceptibility of Staphylococcus aureus small colony variants.

Small colony variants (SCV) are slow-growing subpopulations with altered metabolism and reduced antibiotic susceptibility which, in the case of Staphylococcus aureus, can cause persisting and recurrent infections. We studied four SCVs and their corresponding parent strains: one clinical strain pair, one menaquinone-deficient spontaneous mutant, and two constructed mutants obtained by inactivation of hemB in S. aureus 8325-4 and COL, respectively. SCVs growing in chemically defined medium (CDM) with glucose limitation and enhanced buffering capacity were found to generate deltapsi of -120 to -140 mV, which is comparable to the parent strains. However, glucose is consumed inefficiently with small growth yields. In contrast to wild-type strains, deltapsi dropped immediately to values below -100 mV when glucose expired and other nutrients such as acetate and lactate did not allow for further growth. Accordingly, the sensitivity of SCVs toward antibiotics known to be taken up through deltapsi, such as aminoglycosides, dropped 10- to 30-fold when compared to the parent strain under routine MIC determination conditions. When growing in CDM, the susceptibility of SCVs varied according to the magnitude of deltapsi.

Acetates↗

PubMed1998

Early life stress, negative paternal relationships, and chemical intolerance in middle-aged women: support for a neural sensitization model.

This study (ntotal = 35) compared early life stress ratings, parental relationships, and health status, notably orthostatic blood pressures, of middle-aged women with low-level chemical intolerance (CI group) and depression, depressives without CI (DEP group), and normals. Environmental chemical intolerance is a symptom of several controversial conditions in which women are overrepresented, that is, sick building syndrome, multiple chemical sensitivity, chronic fatigue syndrome, and fibromyalgia. Previous investigators have postulated that people with CI have variants of somatization disorder, depression, posttraumatic stress disorder (PTSD) initiated by childhood abuse or a toxic exposure event. One neurobehavioral model for CI, somatization disorder, recurrent depression, and PTSD is neural sensitization, that is, the progressive amplification of host responses (e.g., behavioral, neurochemical) to repeated intermittent stimuli (e.g., drugs, chemicals, endogenous mediators, stressors). Females are more vulnerable to sensitization than are males. Limbic and mesolimbic pathways mediate central nervous system sensitization. Although both CI and DEP groups had high levels of life stress and past abuse, the CI group had the most distant and weak paternal relationships and highest limbic somatic dysfunction subscale scores. Only the CI group showed sensitization of sitting blood pressures over sessions. Together with prior evidence, these data are consistent with a neural sensitization model for CI in certain women. The findings may have implications for poorer long-term medical as well as neuropsychiatric health outcomes of a subset of women with CI. Subsequent research should test this model in specific clinical diagnostic groups with CI.

Adult↗

PubMed1992

Mitochondrial DNA length variation and heteroplasmy in populations of white sturgeon (Acipenser transmontanus).

Southern blot analysis was used to quantify the extent of mtDNA D-loop length variation in two populations of white sturgeon, Acipenser transmontanus. Over 42% of individuals were heteroplasmic for up to six different mtDNA length variants attributable to varying copy numbers of an 82-bp repeat sequence. Chi-square analyses revealed that the frequencies of length genotypes and the incidence of heteroplasmy were significantly different between Fraser and Columbia River sturgeon populations but not between restriction site haplotypes. Heteroplasmic fish have, on average, higher copy number than homoplasmic fish. Forty-five of 101 homoplasmic individuals carry only a single copy of the repeat, while none of the 73 heteroplasmic fish has the single repeat as the predominant variant. On the basis of differences in frequency distributions of copy number within and between fish, we suggest that (1) heteroplasmy is maintained by high recurrent mutation of multiple copy genomes, favoring increased copy number and (2) the mutation pressure toward higher copy number heteroplasmy is partially offset by selection to reduced genome size and segregation to the homoplasmic condition.

Animals↗

PubMed2005

Maternal CD46H2 and IL1B-5111 homozygosity in T helper 1-type immunity to trophoblast antigens in recurrent pregnancy loss.

BACKGROUND: Women with recurrent pregnancy loss (RPL) and T-helper (Th)1-type immunity to trophoblast antigens have an increased frequency of the IL1B-511*1 promoter variant. Since CD46 gene products also regulate maternal immune responses including Th1 immunity, we investigated whether CD46 gene polymorphisms are also associated with RPL in women with and without Th1 immunity to trophoblast, and the possibility of a synergistic effect with the IL1B-511*1 promoter variant. METHODS: A case-controlled study was performed to document HindIII site polymorphism in intron 1 of the CD46 gene in 131 women with RPL and 72 fertile controls. Clinical information, Th1-type immune responsiveness to trophoblast in women with RPL history, and IL1B promoter allelotypes for this cohort were documented in a previous study. RESULTS: The frequency of the CD46H*2 allele and CD46H*2 homozygosity were significantly increased in women with RPL compared with fertile controls (P<0.028 and P<0.011). CD46H*2 homozygosity was highly associated with RPL-Th1(+) (32.4 versus 9.7% in fertile controls, P<0.0045). Logistic regression analysis revealed that women homozygous for both the IL1B-511*1 and CD46H*2 alleles had an extremely high risk of RPL-Th1(+) [exponential coefficients (EC)=24]. Among women with RPL, homozygosity at both alleles, but not each alone, significantly increased the risk of Th1 immunity to trophoblast antigens (EC=16), suggesting a possible genetic interaction between these two alleles in the development of Th1 immunity. CONCLUSIONS: The combination of homozygosity for both IL1B-511*1 and CD46H*2 alleles is a high risk factor for RPL-Th1(+).

Abortion, Habitual↗

PubMed1977

Rapid onset of hand ischemia of unknown etiology: clinical evaluation and follow-up of ten patients.

Ten patients presenting with a history of the acute onset of hand ischemia have undergone detailed clinical, immunologic, and arteriographic evaluation. The disease is characterized by the acute onset of hand ischemia proceeding to fingertip ulceration, in the absence of recognized systemic disease. None of the patients had any evidence of large artery obstruction. Arteriography showed diffuse obstruction of the palmar and digital arteries. No evidence was found in any patient of any systemic disease process associated with small artery obstruction. These patients are suspected of having a previously unreported variant of hypersensitivity angiitis. Patients are left with permanent obstruction of the palmar and digital arteries. Follow-up suggests the disease in non-recurrent and is characterized by progessive clinical improvement associated with the development of collateral circulation. Conservative management of the condition is recommended.

Adolescent↗

PubMed2026

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Prenatal diagnosis of genetic syndromes often relies on structural anomalies; however, many monogenic disorders show atypical or evolving prenatal phenotypes, limiting imaging-based diagnosis. We report four fetuses with atypical presentations diagnosed by exome/genome sequencing. Pathogenic variants were identified in BBS1, SLC26A2, POMT2, and COL25A1. Prenatal findings included heterotaxy with complex heart disease, isolated long bone shortening, subtle CNS anomalies, and recurrent contractures. These cases highlight the variability in the prenatal phenotypic spectrum of genetic disorders and the value of genomic sequencing for accurate genetic counseling and reproductive decision-making.

Humans↗

PubMed1998

A case of a malignant mixed tumor in the vagina.

Malignant mixed tumors in the vagina are extremely rare. We experienced a case of a malignant mixed tumor (synovioid variant). Surgical treatment was performed, followed by 3 courses of chemotherapy. Up to the present time, 4 years after the first treatment, no signs of recurrence have been observed.

Biopsy↗

PubMed1999

Apolipoprotein E2/E5 variants in lipoprotein glomerulopathy recurred in transplanted kidney.

Lipid abnormalities are associated with various disorders ranging from generalized atherosclerosis to renal diseases, including lipoprotein glomerulopathy that is characterized by glomerular lipoprotein thrombi and causes type III hyperlipoproteinemia, proteinuria, and renal failure. This study examines lipoprotein glomerulopathy, which recurred in a transplanted kidney. Molecular biologic analysis of the patient's apolipoprotein (apo) E gene demonstrated E2/E5 type variants. Immunohistochemical analysis of the diseased kidney demonstrated various lipid peroxidation-specific protein adducts, suggesting a potential role of oxidative stress in this disorder. Recurrence in the transplanted kidney suggested a pathogenic role of extraglomerular humoral component(s) resulting from abnormal lipoprotein metabolism, presumably linked to apo E and other genetic or acquired factor(s). Furthermore, the finding that the patient showed pathologic abnormalities in the transplanted kidney with no clinical signs or symptoms of renal disease indicated that lipoprotein glomerular damage progresses early before any clinical manifestations.

Adult↗

PubMed1999

[Serologic study of human herpesviruses 6 and 7 in lymphoma patients].

DNA sequences, antigens and elevated antibodies to HHV-6, and DNA sequences of HHV-7 in patients with Hodgkin's disease and non-Hodgkin's lymphoma have been detected. It is not known whether HHV-6 variants A and B, and HHV-7 contribute to the malignization by different ways, there is any interaction between these viruses, and their primary or recurrent infections occur during the disease progression. Total and high avidity IgG, IgM to HHV-6A, HHV-6B and HHV-7 were quantitated simultaneously in the sera of 12 patients with lymphomas and 12 control persons by indirect immunofluorescent assay and ELISA. It was established that, primary infection by HHV-6B in Hodgkin's disease, its primary or recurrent infections in non-Hodgkin's lymphoma; primary or recurrent infection by HHV-6A in Hodgkin's disease, its recurrent infection in non-Hodgkin's lymphoma; recurrent infection by HHV-7 in Hodgkin's disease may contribute to the deterioration of clinical conditions. Probably, HHV-7 exerts its effects through activating HHV-6B. The simultaneous effects of HHV-7 and HHV-6A, and that of HHV-6B and HHV-6A seem to be independent. Our results supports the recent opinion that, the effect of these herpesviruses on the tumorous cells is exerted indirectly by altered mediators of the immune system.

Female↗

PubMed1986

Atypical mesoblastic nephroma. Pathologic characterization of a potentially aggressive variant of conventional congenital mesoblastic nephroma.

A case of an aggressive variant of conventional congenital mesoblastic nephroma (CMN) occurred in a 10-month-old male infant. The tumor proved to be fatal, with two abdominal recurrences, but no metastases were found. Of the various terms used to designate the tumor, atypical mesoblastic nephroma (AMN) is preferred. We reviewed 17 previously reported cases to attempt pathologic characterization of AMN. The features that distinguish AMN from CMN are as follows: (1) atypical gross features consisting of one or more of the following: fleshy areas, foci of hemorrhage, necrosis, involvement of adjacent structures other than connective tissue; and (2) high cellularity and mitotic index. Aggressive behavior was noted at surgery or on follow-up in seven of the 18 cases. It was characterized by one or more of the following: (1) invasion of adjacent structures, such as adrenal gland, spleen, colon, and diaphragm (three cases); (2) one or more recurrences (four cases); and (3) metastasis (two cases). Atypical mesoblastic nephroma should be recognized as a potentially aggressive lesion separate from CMN.

Combined Modality Therapy↗

PubMed1985

Chromosomal alterations in acute leukemia patients studied with improved culture methods.

Cytogenetic studies, using improved short-term culture techniques, were performed on 64 patients with acute leukemia to determine the incidence and kinds of clonal karyotypic changes detectable with this newer methodology. An adequate number of analyzable mitoses was obtained from 59 patients. Clonal chromosomal alterations were found in 88% (52 of 59) of patients, as compared to approximately 50% in previous studies of acute leukemia in which conventional techniques were used. From our series, abnormal karyotypes were detected in 37 of 44 (84%) cases with primary acute nonlymphocytic leukemia, all 5 with secondary acute nonlymphocytic leukemia, and all 10 with acute lymphoblastic leukemia. Among the entire group of patients, several recurrent abnormalities were observed, e.g., -7 in eight cases, +8 in seven cases, t(15;17) in four cases, and t(8;21) or a variant of this translocation in four cases. In five patients, the only abnormality was a rather subtle structural rearrangement (e.g., tiny deletion). Five other patients had clonal changes which were found in less than 10% of the mitoses examined in each case. Our results indicate that most patients with acute leukemia, both acute nonlymphocytic leukemia and acute lymphoblastic leukemia, have clonal chromosome abnormalities associated with their disease.

Acute Disease↗

PubMed1995

[Cerebral amyloid angiopathy (congophilic angiopathy): a rare cause of massive cerebral hemorrhage. Report of an "age-related" sporadic case].

Cerebral amyloidosis is a form of organ-limited amyloidosis, which doesn't involve any organ other than brain and which comprises several subtypes, including "congophilic angiopathy" (CA), "senile plaques" (SP), "neurofibrillary degeneration" (ND), "stellate amyloid cores" of spongiform encephalopathies. It is found in 5 to around 20% of human population in people aged 60 to 90 years, the increasing being strictly related to ageing. Usually it is associated to SP and occasionally to ND, being distinguished into familial and non-familial (age-related) variants. It affects intracortical and leptomeningeal variously sized vessels of the brain and is a leading pathogenetic factor in determining a rare but possibly even recurrent form of a massive intraparenchymal cerebral hemorrhage, constituting a 0.2 per cent of brain vascular accidents of any origin and a 5-10 per cent if only primary non traumatic brain hemorrhages are considered. A case of non-familial CA in a previously non-demented nor hypertensive female patient aged 65 years is reported on, who was admitted due to an almost abrupt onset of neurologic symptoms mainly dominated by a sudden loss of consciousness together with a left sensory-motor deficiency syndrome. The patient who had been operated on of unilateral mastectomy eight years earlier due to an invasive ductal carcinoma of the breast was found affected by a devastating brain hemorrhage in the right temporo-occipital lobes with subsequent deflection of the brainstem axis toward the opposite side detected by means of CT/MRI and angiographic investigations.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗

PubMed1996

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

Alport syndrome is a mainly X-linked hereditary disease of basement membranes that is characterized by progressive renal failure, deafness, and ocular lesions. It is associated with mutations of the COL4A5 gene located at Xq22 and encoding the alpha5 chain of type IV collagen. We have screened 48 of the 51 exons of the COL4A5 gene by SSCP analysis and have identified 64 mutations and 10 sequence variants among 131 unrelated Alport syndrome patients. This represents a mutation-detection rate of 50%. There were no hot-spot mutations and no recurrent mutations in our population. The identified mutations were 6 nonsense mutations, 12 frameshift mutations, 17 splice-site mutations, and 29 missense mutations, 27 of the latter being glycine substitutions in the collagenous domain. Two of these occurred on the same allele in one patient and segregated with the disease in the family. We showed that some of the glycine substitutions could be associated with the lack of immunological expression of the alpha3(IV)-alpha5(IV) collagen chains in the glomerular basement membrane.

Adolescent↗