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PubMed1998

Prevalence of male pattern hair loss in 18-49 year old men.

BACKGROUND: Previous studies investigating the prevalence of male pattern hair loss (MPHL) typically used biased samples of men recruited from clinical populations which may limit generalizability of findings to broader populations. OBJECTIVE: To obtain an updated and improved estimate of the occurrence of MPHL in healthy men residing in the community. METHODS: Community-based sample of healthy men aged 18-49 years participated in a study investigating the effects of MPHL. Participants completed a brief questionnaire self reporting degree of hair loss, general health-related quality of life (HRQL) and hair-loss-specific measures. A trained observer also rated each participant using standardized classification for MPHL. RESULTS: The proportion of men with moderate to extensive hair loss (type III or greater) was 42%. The proportion of men with moderate to extensive hair loss increased with increasing age, ranging from 16% for men 18-29 years of age to 53% of men 40-49. Twelve percent of the men were classified as having predominantly frontal baldness (type A variants). CONCLUSIONS: MPHL, especially frontal baldness, may be more common than previously reported.

Adolescent↗
PubMed1996

Oral white lesions with special reference to precancerous and tobacco- related lesions: conclusions of an international symposium held in Uppsala, Sweden, May 18-21 1994. International Collaborative Group on Oral White Lesions.

An international group of epidemiologists, clinicians and pathologists with a special interest in oral white lesions and their precancerous significance has reviewed earlier work on this topic and identified some of the problems associated with previous definitions, descriptions and classifications. Modifications to these definitions, descriptions and classifications have been proposed, accompanied by explanations of the reasons for identifying the need for changes to be made. Leukoplakia may be a provisional or definitive diagnosis dependent upon the circumstances of oral examination and the availability of other information. Guidelines are provided to assist in the application of the definitions of oral leukoplakia and illustrations depict the homogeneous and non-homogeneous clinical variants. Consideration is also given to the importance of a red component in a white lesion, or a lesion that is entirely red (erythroplakia). A new clinical staging procedure for oral leukoplakia is also proposed.

Erythroplasia↗
PubMed2002

Pharmacogenomic biomarkers.

Pharmacogenomic biomarkers hold great promise for the future of medicine and have been touted as a means to personalize prescriptions. Genetic biomarkers for disease susceptibility including both Mendelian and complex disease promise to result in improved understanding of the pathophysiology of disease, identification of new potential therapeutic targets, and improved molecular classification of disease. However essential to fulfilling the promise of individualized therapeutic intervention is the identification of drug activity biomarkers that stratify individuals based on likely response to a particular therapeutic, both positive response, efficacy, and negative response, development of side effect or toxicity. Prior to the widespread clinical application of a genetic biomarker multiple scientific studies must be completed to identify the genetic variants and delineate their functional significance in the pathophysiology of a carefully defined phenotype. The applicability of the genetic biomarker in the human population must then be verified through both retrospective studies utilizing stored or clinical trial samples, and through clinical trials prospectively stratifying patients based on the biomarker. The risk conferred by the polymorphism and the applicability in the general population must be clearly understood. Thus, the development and widespread application of a pharmacogenomic biomarker is an involved process and for most disease states we are just at the beginning of the journey towards individualized therapy and improved clinical outcome.

Drug Design↗
PubMed2003

Sequential priming is not constrained by the shape of long-term learning curves.

When multiple stimulus-to-response (S-R) mappings are randomly intermixed and repeated in a block of trials, immediate repetitions of an aspect of a stimulus and/or a response can facilitate stimulus detection, classification, and/or response selection--known as sequential priming. In addition to these short-term effects, response times (RT) for almost any task diminish with extended practice, improvements can occur over many days, and RT learning curves typically assume exponential or power functions. We investigated whether short-term sequential priming and long-term practice modulate RT through a common mechanism, using a variant of the additive factors method. We tracked how various priming effects, presumably affecting different processing stages (e.g, stimulus selection, stimulus identification/classification, and S-R mapping), varied over training sessions as RT diminished. All the priming effects either were not reduced or reduced approximately linearly at rates much slower than those predicted by the shapes of the coresponding RT learning curves. The overall results suggest that short term sequential priming and long-term practice modulate RT through relatively separate mechanisms, even though they appear to affect a common set of behaviorally defined processing stages.

Humans↗
PubMed1984

Correlation between circulating levels of von Willebrand's antigen II and von Willebrand factor: discrimination between type I and type II von Willebrand's disease.

Classification of the subtypes of von Willebrand's disease (vWd) has been based on a quantitative deficiency or an abnormal multimeric composition of von Willebrand factor (vWf). Although the co-deficiency of a second protein, von Willebrand's antigen II (vW AgII), had been previously recognized, its concentration in a relatively large number of normal individuals or patients with well-defined vWd variants had not been studied. The plasma from patients with type I, IIA, IIB, IIC, and III (severe) vWd was evaluated, and the concentrations of vW AgII and vWf were determined. Although patients with type I and III vWd had reduced levels of both proteins, the plasma vW AgII concentration was normal in patients with type II vWd. Analysis of the results indicates that type I and type II variants can be discriminated with greater than 80% accuracy by comparison of results of these two antigenic assays. The normal levels of vW AgII in type II variants suggest a possible difference in the pathophysiology of type I and type II vWd.

Antigens↗
PubMed1997

[Status epilepticus].

INTRODUCTION: Status epilepticus (SE) is a condition in which epileptic discharges are sufficiently prolonged or repeated so as to cause persistent changes in neurological function. DEVELOPMENT: At the present time the classification of SE seems to be incomplete and therefore provisional. However the broad subdivision into convulsive SE and non-convulsive SE is still useful in clinical practice when emergency treatment is required. The neuropathological changes are largely determined by the nature (excitory or inhibitory) and the duration of the event which originated the crisis. Tonic-clonic SE is only one of many variants of SE. However, unlike many others, it is a medical emergency which if not suitably treated may lead to permanent neurological damage. Neurone damage and death are the result of a series of parallel processes occurring at a systemic and neuronal level. Outstanding amongst the latter is the activation of a complex neurotoxic cascade. Better understanding of the physiopathological mechanisms occurring in SE would set the stage for a more logical use of treatment. CONCLUSIONS: With advances in the treatment of SE in recent years the prognosis of these patients has improved considerably. However, we should now consider the use of conventional anticonvulsant drugs alone to be insufficient, and that this should give way to polytherapy with neuroprotector agents.

Anticonvulsants↗
PubMedDate not supplied

Fibro-cartilaginous lesions of the glenoid labrum in shoulder instability: a proposed classification using sagittal-oblique arthro-MRI.

PURPOSE: To propose a graded classification of lesions of the fibrocartilaginous glenoid labrum in traumatic dislocations of the shoulder, based on arthro-MRI in sagittal-oblique views. MATERIALS AND METHODS: Seventy-one patients with histories of chronic post-traumatic shoulder instability were studied from May 2000 to May 2001. MR images were obtained using superconducting magnets operating at 1 and 1.5 Tesla, with a dedicated shoulder coil. The study was carried out in combination with arthrography, with axial sections oriented perpendicularly to the longitudinal axis of the glena, oblique coronal sections parallel to the course of the supraspinous muscle tendon and oblique sagittal sections with axis parallel to the longitudinal axis of the glena. RESULTS: In one case an anatomical variant was found (Buford complex). In 18 patients a simple fissuration of the fibrocartilaginous glenoid labrum was found, whereas 28 patients displayed more extensive lesions affecting the middle-inferior portions of the labrum. In 15 patients the lesion extended to the middle-superior third of the glena, involving the middle glenohumeral ligament. In 9 cases, in addition to a complete lesion of the labrum, with typical "bucket-handle" appearance, a lesion of the superior and middle glenohumeral ligaments was also observed. DISCUSSION AND CONCLUSIONS: In traumatic shoulder dislocations it is essential to provide the surgeon with precise information regarding the location, extension and degree of damage to the capsule, ligaments and especially the labrum of the glenohumeral joint. On the basis of the results obtained in the sagittal-oblique sections we propose an MR-arthrography classification dividing lesions of the fibrocartilaginous labrum into 4 grades.

Adolescent↗
PubMed1986

Reactivity patterns of monoclonal antibodies positive on myelomonocytic leukemia cells as defined by esterase isoenzyme analysis.

The reactivity with monoclonal antibodies (MoAbs) specific for myelomonocytic cells and the expression of a particular esterase isoenzyme were analyzed in 159 cases of acute myeloid leukemias. The incidence of positivity of 16 MoAbs (MCS-2, MCS-1, OKM1, My-1, Leu-M1, Leu-M3, CA-2-38, MY4, MY7, MY8, MY9, VIM-D2, VIM-D5, Mo1, Mo2, 63D3) was studied using the indirect immunofluorescence technique. A carboxylic esterase isoenzyme which can be inhibited completely and selectively by sodium fluoride (NaF) was demonstrated by isoelectric focusing on horizontal polyacrylamide gels. This NaF-sensitive isoenzyme indicated the monocytic origin of the blast cells as it is specific for this cell lineage. Prior to the immunological-isoenzymatic analysis all cases were categorized into two subtypes according to morphological criteria of the FAB classification system: 147 cases of AML (FAB M1-3) and 12 cases of AMMoL/AMoL (FAB M4/5). However, 15 out of 147 cases of AML expressed the NaF-sensitive isoenzyme and were therefore assigned to the group AMMoL/AMoL. Likewise, 1 case, diagnosed morphologically as AMMoL, was negative for this marker isoenzyme and was assigned to the other leukemia subtype. The incidence of reactivity varied widely for the MoAbs tested regarding the overall results on all cases and the positivity of cases of either AML or AM-MoL/AMoL. The MoAbs were grouped into four classes depending on the pattern of reactivity with myeloblastic or monoblastic or both subtypes of acute myeloid leukemia. The MoAbs MCS-2, MY7, Leu-M1, and MY9 detected the vast majority of cases with either myelocytic or monocytic involvement (group-I: "pan-myelomonocytic" reactivity). The MoAbs MCS-1, OKM1, VIM-D5, and Mo1 showed a predominance in their staining pattern for monocytic variants, but were also positive on a substantial percentage of nonmonocytic cases (group-II: predominantly reactive with monocytic, but also myelocytic cases). The MoAbs Leu-M3, MY4, VIM-D2, Mo2, and MY8 reacted with the large majority of AMMoL/AMoL cases and with a small number of AML cases (group-III: monocyte-"specific" reactivity). The MoAbs of group-I are useful in differentiating acute lymphoid from acute myeloid leukemias. The MoAbs of group-III, and to a lower extent those of group-II, will be of considerable value in the subtyping of acute myeloid leukemias. The results show that accuracy of leukemia classification might not always be achieved by morphology alone, but that immunological and biochemical aspects should be included as well, and several MoAbs are very useful tools for classification and subtyping of acute myeloid leukemias.

Antibodies, Monoclonal↗
PubMed2006

PrP genotypes of atypical scrapie cases in Great Britain.

Great Britain and elsewhere have detected atypical scrapie infection in sheep with PrP genotypes thought to be genetically resistant to the classical form of scrapie. DNA sequencing of the PrP gene of British atypical scrapie cases (n=69), classical scrapie cases (n=59) and scrapie-free controls (n=138) was undertaken to identify whether PrP variants, other than the three well-characterized polymorphic codons, influenced susceptibility to atypical scrapie infection. Four non-synonymous changes, M112T, M137T, L141F and P241S, were detected that are most probably associated with the A(136)R(154)Q(171) haplotype. Only the PrP variant containing a phenylalanine residue at amino acid position 141 was found to be associated more commonly with the atypical scrapie cases. In addition to the single nucleotide polymorphisms associated with the ARQ allele, two out of nine atypical scrapie cases with the ARR/ARR genotype were found to contain a 24 bp insertion, leading to an additional octapeptide repeat. In terms of PrP genetics, one classification of the GB scrapie cases examined in this study would place animals carrying any homozygous or heterozygous combination of ARR, AHQ or AF(141)RQ alleles, or any one of these alleles when paired with ARQ, as being susceptible to atypical scrapie infection, and animals heterozygous or homozygous for VRQ or homozygous for ARQ as being susceptible to classical scrapie disease. The AHQ PrP allele was associated with the highest incidence of atypical scrapie (263 per 100 000 alleles), whilst VRQ was associated with the lowest incidence (10 per 100 000 alleles).

Alleles↗
PubMed2025

Multivariate Effects of SNPs on Environmental Streptococcal Mastitis Evaluated With an NGS-Based Association Study Using Targeted Resequencing in the Bovine MHC Region.

Mastitis is an inflammatory reaction caused by bacterial infection of the teat, and a relationship between its onset and cattle major histocompatibility complex (BoLA) region has been reported. However, no comprehensive genetic analysis of mastitis caused by environmental streptococci has been reported. Here, we resequenced the BoLA region using a hybridisation capture target next-generation sequencing (NGS) method to identify disease susceptibility markers mapped to the BoLA region in environmental streptococcal mastitis. This study examined 75 cows with mastitis caused by environmental streptococci selected from 1641 cows with mastitis and 222 healthy cows without mastitis in Japan. Targeted sequences obtained from MiSeq NGS were aligned to the bovine reference genome (ARS-UCD1.2/bosTau9), and 2,920,355 variants were detected within the BoLA region of the 297 Holstein cattle. In an association study using 2264 variants after quality control, the top 20 variants with the lowest P values were selected and assigned to the 18 surrounding candidate genes, and a gene network analysis of these genes resulted in the narrowing down of five candidate genes POU5F1, IER3, GNL1, ABCF1, and PRR3. Multivariate effect analysis of all 6 SNPs associated with these 5 genes revealed that they were significantly correlated with mastitis, indicating that they were useful for classification of mastitis-resistant and mastitis-susceptible cattle. This is the first report to identify SNPs associated with environmental streptococcal mastitis with an NGS-based association study using targeted resequencing in the BoLA region, and understanding host factors may provide important clues for mastitis control.

Animals↗
PubMed2002

Analysis of phylogenetic relationship of Cylindrocarpon lichenicola and Acremonium falciforme to the Fusarium solani species complex and a review of similarities in the spectrum of opportunistic infections caused by these fungi.

An emerging pattern of similarity in medical case reports led to a project to compare the phylogenetic affinities of two well-known tropical fungal opportunistic pathogens, Cylindrocarpon lichenicola and Acremonium falciforme, to members of the Fusarium solani species complex. C. lichenicola and A. falciforme, despite their deviating conidial morphologies, were shown via sequencing of the ribosomal large subunit to be well instituted within a clade mainly consisting of typical F. solani strains and other species until recently considered variants of F. solani. The original name Fusarium lichenicola C. B. Massalongo is reestablished, and the new combination F. falciforme is made. Recognition of these species as fusaria is necessary for correct interpretation of current and future molecular diagnostic tests. Reevaluation of species morphology in light of the molecular findings showed that certain features, especially elongate filiform conidiophores with integrated terminal phialides, facilitate correct microscopic classification of these atypical Fusarium species. There is a strong and underrecognized overlap in the spectra of cases caused by members of the F. solani clade, particularly ocular infections, mycetomas, and, in the neutropenic host, disseminated and other serious systemic infections. A novel synthesis of case reports shows that patients from areas with warm climates may develop a distinctive fusarial intertrigo caused by F. solani, Fusarium lichenicola, or Fusarium oxysporum.

Acremonium↗
PubMed2006

Three type 6 hepatitis C virus subgroups among blood donors in the Yangon area of Myanmar are identified as subtypes 6m and 6n, and a novel subtype by sequence analysis of the core region.

Previously, using phylogenetic analysis of NS5b sequences, we found that three type 6 variant subgroups (M6-1, M6-2 and M6-3) exist in Myanmar. According to the new nomenclature of hepatitis C, M6-1 and M6-2 belong to subtypes 6m and 6n, respectively, but M6-3 is unassigned. In this study, we sequenced and phylogenetically analyzed the core region of these type 6 variant subgroups. Serum samples assigned as 6m or 6n by NS5b sequence were also identified as 6 m or 6n by core region analysis. The M6-3 (sample name MYAN-3E-3) remained unassigned to a subgroup based on its core region analysis. The findings of this study suggest that either the core region or the NS5b region can be analyzed for HCV subtype classification.

Base Sequence↗
PubMed2004

Pharmacogenomics in breast cancer: current trends and future directions.

Pharmacogenomics is the study of genetic variations between individuals to predict the risk of toxic side effects and the probability that a patient will respond to single- or multidrug chemotherapy. Breast cancer remains one of the most common cancers among women worldwide and is second only to lung cancer in cancer-related death. A better understanding of the mechanisms of initiation and progression of breast cancer is needed for early diagnosis and development of better therapeutic methodologies. Differences in cancer patients' responses to chemotherapy have often been attributed to pathogenesis and severity of the disease, drug interactions, patient's age, gender, nutritional status, organ functions and tumor biology. It is now well recognized that genetic variations in drug target genes, disease pathway genes and drug metabolizing enzymes can have greater influence on drug efficacy and toxicity. In addition, germline variants can be used to study breast cancer susceptibility, as well as the variable response to both drug and radiation therapy used in the treatment of breast cancer. This review discusses clinically relevant individual gene variations that influence breast cancer susceptibility and cancer therapy, as well as the microarray-based expression profiling studies that have great potential in cancer pharmacogenomics in terms of tumor classification, drug and biomarker discovery and drug efficacy testing.

Age Factors↗
PubMedDate not supplied

Juvenile psoriatic arthritis, or juvenile arthritis with psoriasis?

Juvenile psoriatic arthritis (JPsA) has traditionally been considered to be one of the spondyloarthropathies. Clinical and laboratory evidence had shed doubt on the appropriateness of its inclusion in this classification, however. It is suggested that included under the rubric of JPsA there are two or more conditions: one in which arthritis and psoriasis occur coincidentally, and a second in which psoriasis occurs with a characteristic pattern of joint involvement: asymmetric oligoarthritis affecting large and small joints, with or without dactylitis, chronic uveitis, and antinuclear antibodies. Whether it is appropriate to consider JPsA as a variant of juvenile rheumatoid arthritis, or as an entirely separate disorder is uncertain.

Arthritis, Juvenile↗
PubMedDate not supplied

[The diagnosis and correction of hemostatic system disorders during surgical coagulopathic hemorrhages in cancer patients].

The hemostasis system was examined before surgery, during the principal stages of the operative intervention, and in the early postoperative period in 280 patients with various malignant tumors. The volume of intraoperative blood loss varied from 280 to 14,000 ml. The studies revealed that the main factor causing the most profound disorders in the hemostasis system which lead to the development of grave coagulopathic hemorrhages is blood loss due to surgical trauma. Coagulopathic bleedings most frequently develop in case of at least a 3000 ml blood loss and course as different variants and stages of the syndrome of disseminated intravascular coagulation (DIC) or hemodilution coagulopathy. Massive blood loss was found to involve primarily damage of the platelet component of the hemostasis system, thrombocytopenia being paralleled by a drastic reduction of the aggregability of these cells, this, in turn, increasing bleeding from small vessels. Laboratory signs of acute DIC diagnosed during surgery anticipate its clinical manifestation. Working classification of operative bleedings and rapid methods for their diagnosis have been developed.

Adult↗
PubMed1984

Flow DNA analysis of primary bone tumors. Relationship between cellular DNA content and histopathologic classification.

The cellular DNA content of 15 benign and 34 malignant primary bone tumors was analyzed by means of flow cytophotometry. All benign tumors except one of questionable histologic type exhibited a normal DNA content (diploid), whereas 23 of 34 malignant tumors showed an abnormal DNA content (aneuploid). Closer analysis revealed that all supposedly highly malignant tumors, i.e., 16 osteosarcomas and 1 Ewing sarcoma were aneuploid, while 8 of 13 chondrosarcomas, 2 periosteal osteosarcomas, and 1 of 2 adamantinomas were diploid. Interestingly, these diploid malignant tumors represent tumor entities which are known to include variants of low-grade malignancy. Cell distribution analysis showed that the aneuploid tumors exhibited a higher proportion of S-phase and G2 + M cells than the diploid tumors, indicating differences in proliferative activity. However, no significant difference in this respect could be demonstrated between diploid benign and diploid malignant tumors. The current study clearly shows that flow DNA cytophotometry can be applied to most primary bone tumors despite a substantial content of hard tissue. The results also indicate that DNA determinations as an adjunct to conventional histopathologic assessment may provide objective clinically relevant information with respect to the degree of malignancy. Thus, regardless of histogenetic origin, it appears that benign bone tumors as well as malignant bone tumors of low-grade malignancy in general, are diploid, whereas highly malignant bone tumors in general are aneuploid.

Adolescent↗
PubMed1986

Computed tomography in the differential diagnosis of the enlarged retrorectal space.

The value of computed tomography (CT) in the differentiation of an enlarged retrorectal space was analyzed in 132 cases. Classification of barium enema findings into those with simultaneous mucosal alterations and those without any visible lesions of the rectal mucosa seems to be useful. Computed tomography helps in those cases without mucosal changes to differentiate between retrorectal fibrosis, tumorous masses, and inflammatory diseases of the colon. It also demonstrates the lack of pathologic lesions in equivocal cases of pelvic lipomatosis and so-called "normal variants." If simultaneous mucosal involvement on barium enema--especially in rectal carcinoma or recurrent carcinoma of the rectum--is found, CT may show the perirectal extension of tumorous masses and thus help to clarify local operability.

Abscess↗
PubMed2002

Apolipoprotein E genotypes in a group of elderly subjects of Spanish descent living in Mexico City.

The association between the APOE gene and Alzheimer's disease and other forms of dementia has been widely documented, but its relevance as a genetic risk factor in specific ethnic groups other than Caucasians in the United States and Europe is limited. The aim of this work was to describe the distribution of the APOE genotype in 80 subjects of Spanish origin, over 60 years old, who were institutionalized in the Spanish Hospital of Mexico City. Thirty-eight subjects who met the DSM-IV and ICD-10 criteria for Alzheimer's disease or vascular dementia and 42 controls without dementia underwent genotyping. APOE epsilon allele frequencies were as follows: for affected individuals, epsilon2, 7.9%, epsilon3, 69.7%, and epsilon4, 22.4%; for controls, epsilon2, 4.8%, epsilon3, 91.6%, and epsilon4, 3.6%. The higher frequency of the epsilon4 allele in the affected group (chi2 = 14.5; df = 4, p = .006) confirms an association between this APOE molecular variant and dementia in elderly Spaniards.

Aged↗