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At least 523 records · Page 29Linked to original sources
PubMed2002

Variant mannose-binding lectin alleles are not associated with susceptibility to or outcome of invasive pneumococcal infection in randomly included patients.

Invasive pneumococcal disease is a serious infection that primarily affects very young children and elderly or immunocompromised individuals but also affects previously healthy people. Variant mannose-binding lectin (MBL) alleles are associated with recurrent infections and may be a risk factor for pneumococcal infections. To assess the influence of MBL genotypes on the course and outcome of invasive pneumococcal disease, clinical data for 141 adult patients were collected prospectively and their genotypes were determined. All patients included had positive blood cultures for Streptococcus pneumoniae. The distribution of variant MBL alleles related to low MBL serum concentrations was similar among the patients and healthy individuals, and MBL genotype was not associated with infection outcome. Thus, in a random adult population with invasive pneumococcal infection, MBL does not seem to play a role in the pathophysiology, in contrast to earlier observations in patients with other concomitant immune abnormalities.

Adolescent↗
PubMed2002

[Approaches to late prognosis in patients with subacute infectious endocarditis].

AIM: To ascertain late prognosis of subacute infectious endocarditis (IE), factors involved in the prognosis, formulate approaches to assessment of late prognosis. MATERIAL AND METHODS: A retrospective trial included 98 patients discharged from a hospital with diagnosis "subacute IE", treated without surgery or without endocarditis of the prosthesis. The diagnosis was verified at echocardiography. A mean follow-up 4.8 +/- 3.7 years. Clinical and echo-CG follow-up findings were computer-processed. RESULTS: 5-year lethality was 31%. The patients died of cardiac failure (CF) and acute failure of cerebral circulation (84 and 16%, respectively). Late complications in the survivors were the following: severe CF (18 patients, 32%), moderate CF (18 patients, 32%), recurrent IE (12 patients, 20%). Such factors as IE variant (primary or secondary), affection of the aortic valve, severity of regurgitation, size of the left ventricle, CF progression in the acute phase proved to have a significant influence on late prognosis. CONCLUSION: The prevalent cause of death in IE is CF. The progression of CF depends on combination of the above factors. High risk group patients should be examined by a cardio-surgeon even in the absence of clinical symptoms of CF.

Adult↗
PubMed1987

Sutton's summer prurigo: a morphologic variant of atopic dermatitis.

We describe in detail 6 of 18 children affected by a recurrent summer papular eruption on the elbows, knees, and backs of the hands. In all six, family history, clinical observation, or laboratory data revealed signs of atopy. Phototesting, performed to evaluate the role of ultraviolet rays in the pathogenesis of the disease, gave results similar to those obtained in subjects with atopic dermatitis. Therefore we suggest that this disease may be a peculiar morphologic variant of atopic dermatitis.

Adolescent↗
PubMed2000

CD44 isoform expression in synovial sarcoma correlates with epitheliogenesis but not prognosis.

AIMS: We immunohistochemically determined the expression of CD44 standard and splice variant isoforms in a series of synovial sarcomas and sought correlations with histological subtype and clinical parameters including outcome. METHODS AND RESULTS: From 39 patients, a total of 56 formalin-fixed and paraffin-embedded tumour samples (including initial, recurrent and metastatic tumours) were used to immunohistochemically evaluate the expression of epitopes encoded by CD44s and the CD44 splice variants CD44v3-v10. Significance of proposed prognostic indicators was evaluated in relation to the survival, time to local recurrence and time to metastases using log-rank analysis. Sixty-four percent of synovial sarcomas expressed CD44s and 46% expressed CD44v3-v10 (var). Synovial sarcomas with epithelial or epithelioid areas preferentially expressed CD44s in these areas when compared with the spindle cell element. There were no correlations with clinical parameters or outcome. CONCLUSION: The expression of CD44 was not found to correlate with survival, local recurrence or metastatic ability. In synovial sarcoma, CD44 and variant isoform expression appears to be associated with the degree of epithelial differentiation. CD44 expression in synovial sarcoma shows interesting similarities to CD44 expression in embryological epitheliogenesis.

Cell Differentiation↗
PubMed1996

Solid variant of an aneurysmal bone cyst (giant cell reparative granuloma) of the 3rd lumbar vertebra.

A 9-year-old girl with a solid variant of an aneurysmal bone cyst in the 3rd lumbar vertebra showed a good response to low-dose radiation as the only treatment. The solid variant of aneurysmal bone cyst is thought to be a reactive response to intraosseous hemorrhage and is also called giant cell reparative granuloma or giant cell reaction. These lesions in the jaw and the short tubular bones of the hands and feet frequently recur after surgery. Aneurysmal bone cysts of the spine also show a fairly high recurrence rate after incomplete resection or radiation therapy. However, 7 previous cases of the solid variant of aneurysmal bone cyst in the spine and this case did not show recurrence after a mean follow-up period of 45 months. This difference in behaviour suggests that the solid variant should be recognized before surgery as being distinct from conventional aneurysmal bone cysts, especially in the spine.

Bone Cysts, Aneurysmal↗
PubMed1995

Carbon dioxide laser therapy of a widespread epidermal nevus.

BACKGROUND AND OBJECTIVE: The treatment of epidermal nevi is difficult and often unsatisfactory. Many therapeutic approaches have been tried, of which the surgical methods including lasers aim to avoid recurrences and hypertrophic scarring. Here we report the case of a widespread, life-impairing epidermal nevus, summarize the available treatment modalities, and discuss CO2 laser therapy with respect to the clinically soft variants of these developmental defects. STUDY DESIGN/PATIENTS AND METHODS: A patient with a widespread, recurrent, biopsy-proven epidermal nevus was treated with a 10,600-nm CO2 laser. After test treatments in local anaesthesia, four sessions were performed under general anaesthesia each with a follow-up time of 4 years to date. RESULTS: CO2 laser vaporization resulted in complete removal of the treated nevus without any obvious scarring. The patient is free of recurrence 4 years postoperatively. CONCLUSION: CO2 laser treatment of epidermal nevi is a useful modality in selected variants.

Adult↗
PubMedDate not supplied

Psychotic episodes in an elderly woman with an anticentromere-positive scleroderma variant, IgA deficiency, and hypothyroidism.

A 66-year-old woman presented with a recurrent psychotic disorder with central manifestations that initially suggested a delusional disorder. Peripheral stiffness was at first attributed to a dystonic reaction secondary to neuroleptic treatment. The atypical presentation led to suspicion of collagen vascular disease. Both the psychotic disorder and peripheral involvement responded to cortisone. Findings are discussed in light of recent information on the pathogenesis and neuropsychiatric manifestations of systemic lupus erythematosus, progressive systemic scleroderma and limited scleroderma variants (CREST, unclassifiable connective tissue disease) with positive anticentromere titers, including a discussion of the vasculitis hypothesis of collagen vascular cerebral involvement.

Aged↗
PubMed2002

[Clinical variants of joint hypermobility syndrome in respect to age].

Joint hypermotility syndrome (JHMS) was studied in 304 patients (255 women, 49 men, age 16-50 years) divided by age into four groups (16-20, 21-30, 31-40, 41-50). It was found that the incidence rate of such symptoms as polyarthralgia, recurrent exudates and incomplete joint dislocations with age lowers while that of dorsalgia, oligoarthralgia, soft tissue rheumatic syndromes, fibromyalgia rises. A monosymptom variant was characteristic for patients of the age 16-20 years. It manifested with one of the above symptoms (polyarthralgia, dorsalgia, recurrent exudates and incomplete joint dislocations). A syndrome variant, manifesting with combination of several clinical symptoms, was typical for patients over 30. This reflects systemic involvement of connective-tissue structures in the pathological process in JHMS and accumulation of degenerative alterations in the locomotor system with age.

Adolescent↗
PubMed1998

Recurrent cough: natural history and significance in infancy and early childhood.

We investigated the outcome for a sample of children in whom recurrent cough was reported in the preschool years to determine 1) whether they shared the characteristics attributed to cough variant asthma, and 2) the proportion who developed classical wheezy asthma at follow-up during the early school years. A cohort of children identified as having recurrent cough in the preschool period was reassessed during the early school years. Previously identified asymptomatic preschool children who remained symptom-free provided a comparison group with respect to current respiratory symptoms, lung function, bronchial reactivity to inhaled methacholine, atopic status, peak flow variability, and recorded night cough. The response rate was modest, with 41% attending the follow-up study; information on current symptoms was available from a further 16%. Ascertainment of current symptoms showed that 70 of 125 (56.0% [95% CI 47.3-64.5%]) were symptom-free at follow-up, 46 (36.8% [28.7-45.5%]) continued to have recurrent cough in the absence of colds, and 9 (7.2% [3.6-12.8%]) reported recent attacks of wheeze. When comparing the 46 children whose recurrent cough persisted from the preschool period through to follow-up with subjects from the asymptomatic comparison group, the former had significantly more night cough (50.0% vs. 16.8%; P< 0.01), were more likely to be treated (10.9% vs. 1.7%; P=0.01), or were diagnosed (26.1% vs. 5.7%; P < 0.001) as asthmatic. They also showed greater bronchial reactivity than their asymptomatic counterparts (1.23 mg/ml vs. 3.35 mg/ml; P=0.002). Atopic status and other indices of lung function were similar between groups. We conclude that there are a group of children with long-term recurrent cough who display features consistent with a diagnosis of cough variant asthma, but at 2-4 years of follow-up, few progress to develop asthma characterized by wheeze.

Asthma↗
PubMed1997

Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study.

OBJECTIVE: To delineate the clinical phenotype, molecular basis, and implications for screening in patients and families with multiple schwannomas not generally involving the cranium. METHODS: As part of a United Kingdom clinical and genetic study of type 2 neurofibromatosis (NF2) patients and families with multiple schwannomas who do not fulfil diagnostic criteria for NF2 have been identified. The clinical phenotype was studied in the extended families and molecular analysis was carried out at the NF2 gene locus on chromosome 22. RESULTS: Patterns of inheritance in five families with schwannomatosis are consistent with inheritance of an autosomal dominant gene. The consistency of phenotype, with relative sparing of the cranium, is constant in these families. However, families which initially seem to be indicative of schwannomatosis may develop into classic NF2 as shown by a sixth family. Many of the tumours found in these families were referred to as "neurofibroma" when they were clearly schwannomas. This difference in classification has major implications for the relative risk of each particular type of neurofibromatosis and neuropathological review may be important in some cases. Genetic linkage analysis in the two largest families is entirely consistent with primary involvement of the NF2 gene. CONCLUSIONS: Variant forms of neurofibromatosis have presented a dilemma in classification and determination of recurrence risks in families. Previous reports have suggested that schwannomatosis is a sporadic non-hereditary condition. Patients with multiple schwannomas are likely to have a variant form of NF2 and up to a 50% risk of passing on a gene predisposing to multiple schwannoma.

Adolescent↗
PubMed2003

Cytogenetic studies in patients with reproductive failure.

BACKGROUND: Cytogenetic studies in patients with reproductive failure AIM: To investigate the contribution of chromosomal abnormalities in sub fertility and in couples with repeated abortions. METHODS: Hundred and 13 couples who had at least two or more spontaneous abortions and 65 women and 63 men with infertility were analyzed cytogenetically. RESULTS: Major chromosomal rearrangements were found in 8% and minor variants in 6% in the study population. Major chromosomal aberrations were judged to explain 4.9% of recurrent abortions and 13% of infertility. Chromosomal abnormalities in infertile men occurred in 5% and in infertile women in 21.5%. The chromosomal abnormalities were structural (57%), numerical (18%) or mosaics (25%). CONCLUSIONS: Chromosomal aberrations in recurrent abortions are mostly structural ones and those in female infertility mosaicism of sex chromosomes. Turner's syndrome, Turner variants and XY females are detected as a cause of female infertility. The structural and numerical aberrations of either sex or autosomal chromosomes were found in infertile men.

Abortion, Spontaneous↗
PubMed1994

A congenital variant of thrombotic thrombocytopenic purpura in two siblings.

We describe two siblings affected by chronic relapsing thrombotic thrombocytopenic purpura from infancy. The elder brother, a 12-year-old boy had 50 such episodes characterized by acute onset of fever, headache, drowsiness, vomiting, dark urine, thrombocytopenia and anemia. The younger sister, a 6-year-old girl, had 8 episodes with the same clinical manifestations. Petechiae and ecchymoses on the extremities were present throughout their lives. Furthermore, anemia with evidence of red blood cell fragmentation and thrombocytopenia were present chronically. Periodical transfusion of frozen fresh plasma prevented recurrent episodes. These cases suggest that there is a congenital variant of thrombotic thrombocytopenic purpura.

Child↗
PubMed2025

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.&#x2217;97G>A), 2025 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Venous thromboembolism (VTE) occurs when a blood clot forms in a vein. The etiology of VTE is multifactorial, including both environmental and genetic factors. Among the genetic factors, factor V Leiden and factor II c.&#x2217;97G>A (formerly referred to as prothrombin 20210G>A) are the 2 most common genetic variants associated with VTE. Testing for these variants is one of the most common referrals in clinical genetics laboratories. Although the methodologies for testing these 2 variants are relatively straightforward, the clinical implementation can be complicated regarding test indications, risk assessment for occurrence, and recurrence of VTE and related genetic counseling. This document provides an overview of VTE, information about the variants and their influence on risk, considerations before initiating genetic testing, and the clinical and analytical sensitivity and specificity of the tests. Key information that should be included in the laboratory report is also provided. This document supersedes the Technical Standards and Guidelines for Venous Thromboembolism Laboratory Testing originally published in 2005 and revised in 2018. It is designed for genetic testing professionals familiar with the disease and the analysis methods.

Humans↗
PubMed1999

Evolution of hepatitis C virus quasispecies in patients with severe cholestatic hepatitis after liver transplantation.

Evolution of hepatitis C quasispecies may be one mechanism by which fibrosing cholestatic hepatitis develops after liver transplantation. In this study, we compared changes in quasispecies complexity and/or divergence in (1) hepatitis C-infected immunosuppressed transplant recipients and in immunocompetent controls; (2) transplant recipients with mild recurrence, and in those with the most severe form of posttransplantation recurrence. Quasispecies were measured in 12 hepatitis C-infected patients pretransplantation and posttransplantation (6 with mild and 6 with severe recurrence), and in 5 immunocompetent patients with similar follow-up, and characterized by heteroduplex mobility and sequence analysis of the hypervariable region. Although the number of variants (complexity) did not change with time in either group, there was a qualitative change in the variants with time (divergence) in immunocompromised, but not in immunocompetent patients. These changes were most marked with severe recurrence, and preceded the development of severe disease. Phylogenetic analysis confirmed that most posttransplantation variants were unrelated to those detected pretransplantation. These observations suggest that in the absence of immune suppression, there is minor evolution of quasispecies. With immune suppression, divergence of quasispecies is enhanced, resulting in selection/emergence of many new variants, particularly in those with fibrosing cholestatic hepatitis. Thus, quasispecies may influence disease progression in immune suppressed populations.

Cholestasis, Intrahepatic↗
PubMed1995

Human mammary carcinomas express homologues of rat metastasis-associated variants of CD44.

Splice variants of CD44 expressed in a metastasizing cell line derived from a rat pancreatic adenocarcinoma have been shown recently to confer metastatic potential onto non-metastasizing rat pancreatic carcinoma and sarcoma cell lines. Homologues of these variants have also been detected in a variety of human malignancies. Using antibodies raised against a bacterially expressed fusion protein containing variant CD44 sequences, we have explored the expression of variant CD44 glycoproteins on tumors of the female breast. The material examined included normal tissue, hyperplastic lesions, 103 primary invasive mammary carcinomas, 10 in situ carcinomas, 12 local recurrences and 18 lymph node metastases. Using a polyclonal serum directed against several variant CD44 epitopes, normal mammary epithelia as well as ductal hyperplasias were negative for these splice variants, while the variant CD44 epitopes were detectable in all but six of the primary invasive carcinomas. From the reaction with various monoclonal antibodies and polyclonal sera specific for individual epitopes it is obvious that the tumors predominantly express CD44 variants encoded by exons v5 to v7. Interestingly, all investigated lymph node metastases reacted positively with the variant-specific antibodies, in contrast to primary tumors which reacted in 54% to 86% of the cases, depending on the antibody used. Statistical analysis revealed a significant correlation between expression of variant exons v3/v4 and v6 and increased tumor grade (p = 0.001 and p < 0.05, respectively; Fisher's exact test). Exon v6 is carried by the variants which confer metastatic capability in the rat. These results indicate that the expression of the CD44 variants is upregulated in mammary carcinomas and is closely linked to tumor anaplasia.

Animals↗
PubMed1977

[Therapeutic pathomorphosis of affective psychoses during the process of long-term treatment with lithium salts].

The authors report of some results in a long-term (not less than 3 years) prophylactical administration of lithium preparations in 123 patients wiht manic-depressive psychosis and with favourable recurrent schizophrenia. The data contain some considerations in relation to variants of fractional, even and a partial reduction of the psychopathological phasic signs. In 28 patients in the interphasic period there was an anesthetic subdepression. The achieved results are analyzed by the authors from the point of view of a positive and negative therapeutical pathomorphosis.

Bipolar Disorder↗
PubMed1996

Incompletely excised basal cell carcinoma: a management dilemma?

BACKGROUND: Reported recurrence rates for incompletely excised basal cell cancers (BCC) vary widely (30-67%), and the destructive potential of recurrent BCC is well known. When surgically treated BCC are reported by the pathologist as incompletely excised the surgeon is placed in the dilemma of whether to perform an immediate wider excision, or to reserve further treatment until there is clinical evidence of recurrence. The aim of the present study is to determine if there are any clinical or morphological features which may help in this management dilemma. METHODS: Middlemore Hospital histology records were reviewed. In 1986, 82 out of a total of 723 BCC excised were reported to be incompletely excised. The management and recurrence rates of the incompletely excised BCC were determined from the patient records and telephone follow up where necessary. The clinical and morphological features were correlated with the recurrence rates, with the aim of developing a management strategy. RESULTS: The overall recurrence rate was 30.0%. Median time to recurrence was 18.5 months (range 1.5-55 months). Neither the margin of incomplete resection (deep, lateral or both margins), the site of tumour, the histological variant, the sex of the patient, nor prior treatment had any discernible effect on recurrence rates. CONCLUSIONS: Observation is an acceptable management option in most situations, as only one-third of incompletely excised lesions needed further treatment. Most recurrences occurred early and careful follow up of these patients was indicated for at least 3 years.

Basal Cell Carcinoma↗