Disease In Female Patients Research Articles

Myofilament Degradation and Dysfunction of Human Cardiomyocytes in Fabry Disease

Early detection of myocardial dysfunction in Fabry disease (FD) cardiomyopathy suggests the contribution of myofilament structural alterations. Six males with untreated FD cardiomyopathy submitted to cardiac studies, including tissue Doppler imaging and left ventricular endomyocardial biopsy. Active and resting tensions before and after treatment with protein kinase A (PKA) were determined in isolated Triton-permeabilized cardiomyocytes. Cardiomyocyte cross-sectional area, glycosphingolipid vacuole area, myofibrillolysis, and extent of fibrosis were also determined. Biopsies of mitral stenosis in patients with normal left ventricles served as controls. Active tension was four times lower in FD cardiomyocytes and correlated with extent of myofibrillolysis. Resting tension was six times higher in FD cardiomyocytes than in controls. PKA treatment decreased resting tension but did not affect active force. Protein analysis revealed troponin I and desmin degradation products. FD cardiomyocytes were significantly larger and filled with glycosphingolipids. Fibrosis was mildly increased compared with controls. Tissue Doppler imaging lengthening and shortening velocities were reduced in FD cardiomyocytes compared with controls, correlating with resting and active tensions, respectively, but not with cardiomyocyte area, percentage of glycosphingolipids, or extent of fibrosis. In conclusion, myofilament degradation and dysfunction contribute to FD cardiomyopathy. Partial reversal of high resting tension after pharmacological PKA treatment of cardiomyocytes suggests potential benefits from enzyme replacement therapy and/or energy-releasing agents.

Serum big endothelin-1 levels in female patients with breast cancer

Endothelin-1[ET-1] acts as a growth factor in various malignancies. Big endothelin-1 (big ET-1) is the precursor of ET-1. The aim of this study was to determine the importance of serum big ET-1 levels as a novel marker of disease in female patients with breast cancer of various clinical stages. The study consisted of 75 female patients with breast cancer who were diagnosed and treated at the Gazi University Department of Medical Oncology and 20 controls. The patients were classified as follows: group A [ n = 26], patients with newly diagnosed primary breast cancer but without metastasis; group B [ n = 33], patients with metastatic breast cancer who had undergone treatment for their diseases and in whom metastasis was detected during follow-up; group C [ n = 16], off-therapy patients whose cancer had been in remission for at least 5 years; and group D [ n = 20] healthy controls. Serum big ET-1 level were measured with an enzyme immunoassay kit. The median serum big ET-1 levels of the 75 patients with breast cancer [10.96 ± 1.36 ng/ml] were statistically significantly higher than those of controls [8.97 ± 1.55 ng/ml]. The median serum big ET-1 levels of the patients with primary breast cancer patients [group A] were statistically significantly different from those in the controls, the off-therapy patients and the patients with metastatic disease [11.56 ± 0.78 ng/ml, 8.97 ± 1.55 ng/ml, 9.76 ± 1.52 ng/ml, and 10.83 ± 1.18 ng/ml respectively, P = .001]. There was no statistically significant difference in the serum big ET-1 levels of patients in group A in terms of tumor stage, hormone receptor status or lymph node status. Serum big ET-1 levels were statistically significantly higher in patients with metastatic disease than in controls or off-therapy patients ( P = .001). The serum big ET-1 levels of off-therapy patients whose disease was in remission were not statistically significantly different from those in controls ( P > .05). Serum big ET-1 levels seemed to represent the activation of ET-1 in female patients with breast cancer. Serum big ET- 1 levels can be an indicator of the breast cancer. Further studies are needed to demonstrate the prognostic importance of serum big ET-1 in patients with breast cancer.

Coronary Heart Disease and Pregnancy

The prevalence of coronary artery disease in female patients is increasing due to changing lifestyle patterns including cigarette smoking, diabetes and stress. Since women are delaying childbearing until older age, acute coronary syndrome will more frequently occur during pregnancy. Although rare, acute coronary syndrome during pregnancy often has devastating consequences. It is associated with increased maternal and neonatal mortality and morbidity compared with the nonpregnant situation. Furthermore, it constitutes an important problem for the patient and the treating physician, because the selection of diagnostic and therapeutic approaches is greatly influenced not only by maternal, but also by fetal safety.

Sex Differences in Clinical Leptospirosis in Germany: 1997-2005

Although the majority of patients with reported leptospirosis are male, several seroepidemiologic studies demonstrated that leptospirosis seroprevalences are at least identical between both sexes. To study the effect of sex on the severity--and possibly, recognition--of leptospirosis, we conducted a sex-specific analysis of the clinical manifestations of the disease among patients with reported leptospirosis in Germany during 1997-2005. Data on demographic characteristics, symptoms, place of infection and place of residence when infection occurred, possible exposure risks, infecting serovars, and mortality were evaluated for patients with laboratory-confirmed leptospirosis reported in Germany during 1997-2005. Mantel-Haenszel odds ratios (OR(MH)), adjusted for age, were used to determine the association between sex and the frequency of reported symptoms. Among 338 patients with leptospirosis (263 male patients and 75 female patients) reported in Germany during 1997-2005, male patients were more likely than female patients to be hospitalized (OR, 2.6; P<.01) and to exhibit symptoms of severe leptospirosis with jaundice (OR(MH), 3.7; P<.01), renal impairment (OR(MH), 3.4; P<.01), and hemorrhage (OR(MH), 7.8; P<.05). These sex-related differences were not associated with differences in exposure risks, presumptive infecting serogroups, or health-seeking behavior. Our results indicate that male sex is associated with a higher severity of clinical leptospirosis. Reports on male predominance in leptospirosis may thus reflect sex-related variability in the incidence of severe disease, rather than different infection rates. In clinical practice, sex differences in the manifestation of leptospirosis may cause systematic underinvestigation and undertreatment of the disease in female patients.

The SLAPPA (Significance of Lower Abdominal/Periumbilical Piercing as a predictor of acute Appendicitis) audit

Anecdotal observations among medical staff suggest that young women with periumbilical piercing presenting with right iliac fossa pain are more likely to have pelvic inflammatory disease than acute appendicitis because of an unconventional lifestyle. This audit was performed to test the validity of this prejudice. The clinical data of all female patients aged 16-45 years admitted to a teaching hospital with suspected acute appendicitis were collected prospectively over six months. Patients who had undergone previous appendicectomy or gynaecological surgery, those with known Crohn's disease, or those on antibiotics at the time of admission were excluded. 107 patients with a median age of 29.7 years (range 15-45 years) were studied. Thirty-two patients had periumbilical piercing (Group A) and 75 patients did not (Group B). Fifty-nine out of 107 (55.14%) were operated upon. Ten (31.2%) patients in Group A had histologically confirmed acute appendicitis compared with 25 (33.3%) in Group B. Other diagnoses in Group A included non-specific abdominal pain (n = 13, 40.6%), urinary tract infection (4, 12.5%), pelvic inflammatory disease (4, 12.5%) and ovarian cyst (1, 3.1%). Corresponding figures for patients in Group B were 30 (40.0%), 8 (10.7%), 7 (9.3%) and 4 (5.3%) respectively. None of the differences between the two groups were statistically significant. There was no difference in the frequency of a final diagnosis of acute appendicitis or pelvic inflammatory disease in female patients with and without periumbilical piercing. Health care professionals should not allow their clinical judgment to be prejudiced by the presence of body piercing.

Skewed X chromosome inactivation in blood cells of women with scleroderma

Scleroderma (SSc) is an autoimmune disease of unknown etiology. The disease is 3-8 times more frequent in women than in men. The role of X chromosome inactivation (XCI) in the predisposition of women to autoimmunity has been questioned. Until now this has not been illustrated experimentally. This study was undertaken to test the hypothesis that disturbances in XCI mosaicism may be involved in the pathogenesis of the disease in female patients with SSc. Seventy female SSc patients and 160 female controls were analyzed for the androgen receptor locus by the Hpa II/polymerase chain reaction assay to assess XCI patterns in DNA extracted from peripheral blood cells. Furthermore, skin biopsy samples were obtained from 5 patients whose blood revealed an extremely skewed pattern of XCI, and the analysis repeated. Since microchimerism in SSc was reported, Y chromosome sequences were investigated in all samples. Skewed XCI was observed in DNA from peripheral blood cells in 35 of 55 informative patients (64%), as compared with 10 of 124 informative controls (8%) (P < 0.0001). Extreme skewing was present in 27 of the patient group (49%), as compared with only 3 of the controls (2.4%) (P < 0.0001). However, XCI was random in all skin biopsy samples. The potential contribution of microchimerism to the random XCI pattern is highly unlikely based on the medical histories of the patients. Skewed XCI mosaicism may play a significant role in the pathogenesis of SSc.

Lipid peroxidation is enhanced in patients with systemic lupus erythematosus and is associated with arterial and renal disease manifestations

Cardiovascular disease with premature atherosclerosis is common in patients with systemic lupus erythematosus (SLE). We previously identified elevated levels of oxidized low-density lipoprotein (OxLDL) together with elevated levels of autoantibodies related to OxLDL as risk factors for cardiovascular disease in female patients with SLE. Autoantibodies to OxLDL are common in SLE and cross-react with anticardiolipin antibodies (aCL). We therefore hypothesized that lipid peroxidation is enhanced in patients with SLE in general. One hundred forty-seven female patients with SLE and 60 age- and sex-matched controls were compared. A monoclonal antibody to oxidized phospholipids, EO6, was used to determine oxidation epitopes on LDL. Anti-OxLDL and autoantibodies to malondialdehyde (MDA)-modified LDL, cardiolipin, and oxidized aCL were determined by chemiluminescence technique. As determined by binding of EO6, patients with SLE had a higher level of oxidized phospholipids on LDL (P = 0.005) compared with controls. The level of OxLDL (e.g., oxidized phospholipid/apolipoprotein B) was associated with arterial disease (P = 0.006) and renal manifestations (P = 0.04). As reported previously, levels of aCL, autoantibodies to OxLDL, and autoantibodies to MDA-modified LDL were enhanced and were closely correlated in SLE. Anticardiolipin antibodies from these SLE patients recognized mainly oxidized forms of cardiolipin, indicating that antigenic epitopes on cardiolipin are related to lipid peroxidation in patients with SLE. In general, patients with SLE (particularly those with cardiovascular disease) had more oxidized epitopes on LDL compared with controls. Furthermore, aCL in these patients recognized epitopes generated during lipid peroxidation. Thus, "neo" self antigens on lipoproteins, generated during oxidation, are present in SLE and may be of importance for the development of premature cardiovascular disease and possibly also for other autoimmune phenomena observed in SLE.

Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy.

Fabry disease (FD) has been recognized as the cause of left ventricular hypertrophy in 6% of men with late-onset hypertrophic cardiomyopathy (HCM). Although FD is considered a recessive X-linked disorder, affected women are increasingly reported. The aim of our study was to determine the prevalence of FD in female patients with HCM. Thirty-four consecutive women (mean age, 50+/-13.6 years) who received an ECG and echocardiographic diagnosis of HCM were submitted to an invasive cardiac study that included a biventricular endomyocardial biopsy. Tissue samples were analyzed for histology and electron microscopy. Peripheral blood activity of alpha-galactosidase (alpha-Gal) A was assessed in all patients. None of them had a family history of FD. Histology and electron microscopy showed in 4 patients (12%; mean age, 51.5+/-3.9 years) the presence of cell vacuoles characterized by the accumulation of glycolipid material organized in concentric lamellar structures, diagnostic for FD. In the remaining patients, histology was consistent with HCM. In all the female carriers, the heart was the only organ clinically involved in the disease, showing concentric hypertrophy in 2 patients, asymmetric hypertrophy in 1, and apical hypertrophy in 1. The alpha-Gal A enzymatic activity was 44+/-14% of control values. Genetic analysis showed the presence of alpha-Gal A gene mutation in all 4 cases. FD may account for up to 12% of females with late-onset HCM. Those heterozygous for FD with left ventricular hypertrophy are potential candidates for enzyme enhancement/replacement therapy.

Chemokine gene polymorphisms associate with gender in patients with uveitis.

Uveitis is an inflammatory condition of ocular tissue characterized by leukocyte infiltration, tissue damage, and decreased visual acuity. Chemokines have been implicated in the pathogenesis of uveitis. Polymorphisms in the genes encoding chemokines have been described as affecting chemokine production or function. We analyzed the frequency of single-nucleotide polymorphisms (SNPs) in genes encoding CCL2 (-2518 and -2076) and CCL5 (-403 and -28) in patients with Behçet's disease (BD), a systemic form of uveitis, and patients with retinal vasculitis (RV), an organ-specific form of disease. We report that there was no association between any SNP and disease. However, when segregated on the basis of gender the CCR5 -403 AA genotype was only found in male patients with BD. Similarly, CCL2 genotypes 1/2 were predominant in males, while genotype 4 was significantly associated with disease in female patients with BD. Differences in disease symptoms and severity between males and females have been described in BD and gender-specific genetic differences in chemokine gene function may be involved.

P2915 Prevalence of fabry disease in female patients with hypertrophic cardiomyopathy

P2915 Prevalence of fabry disease in female patients with hypertrophic cardiomyopathy

Female voiding dysfunction and movement disorders.

Voiding dysfunction associated with Parkinson's disease has been well described in male patients. Few studies detail voiding dysfunction in female Parkinson patients. Apparent differences between patients with Parkinson's subtypes have also not been sufficiently defined. The majority of female Parkinson patients who have urinary symptoms (>70%) will manifest symptomatic urgency with or without urge incontinence. The remaining patients will have mixed irritative and obstructive or purely obstructive symptoms. Urodynamic evaluation demonstrates detrusor hyperreflexia in 70%-80% of female patients. However, women with Parkinson-related syndromes demonstrate detrusor hypocontractility or areflexia in 20%-30% of cases. Electromyography reveals sphincteric dysfunction (pseudodyssynergia, bradykinesia) in 30%-50% of female Parkinson patients. Also, in patients with Parkinson-related syndromes a high prevalence of peripheral denervation can be documented on electromyographic study of the pelvic floor. Voiding dysfunction associated with Parkinson's disease in female patients is complex and not always congruent with symptoms. Urodynamic evaluation is crucial to fully elucidate lower urinary tract dysfunction in female patients with Parkinson's and Parkinson-related disorders.

Molecular Genetics of von Willebrand Disease

IntroductionVon Willebrand disease (vWD) is a common inherited bleeding disorder that is notable for a high degree of variability in clinical presentation and the considerable heterogeneity of its molecular basis. Confusion about the genetic origin of this disorder has existed since its original description by Eric von Willebrand in 1926.1 Dr. von Willebrand coined the term “pseudohemophilia” to describe the disease in the original pedigree. Though it resembled the bleeding diathesis of hemophilia, von Willebrand also noted findings suggesting an abnormality in platelet function. The severity of bleeding in this family varied widely from mild bleeding to severe hemorrhage, the latter resulting in the death of the proband at the time of her fourth menstrual period.Von Willebrand incorrectly characterized the inheritance pattern in the original Åland Island pedigree as X-linked dominant, because of the apparent greater frequency of the disease in female patients. Now, it is recognized that the greater frequency was largely by chance and due to increased penetrance related to the hemostatic stresses of menstruation and pregnancy. Nonetheless, von Willebrand clearly distinguished the inheritance pattern of vWD from that of classic hemophilia. It is now known that vWD is due to either quantitative or qualitative defects in von Willebrand factor (vWF), encoded by a gene on chromosome 12, whereas hemophilia is due to mutations in the factor VIII gene on the X chromosome.2

GENITAL ULCER INFECTIONS IN THE FEMALE PATIENT AND THE VAGINITIDES

This article discusses genital ulcers caused by sexually transmitted diseases in female patients, and the etiology, morphology of the ulcerations, diagnostic work-up, and current treatment. The article also discusses patients with a vaginal discharge, laboratory work-up, diagnoses, and treatment.

心身症, 精神疾患の発症要因としての産業ストレス

Occupational stress is caused by occupational or workplace factors, individual factors and social factors. These factors are the cause of many patients having to visit a psychosomatic outpatient clinic. We examined state of employment, type of occupation, type of disease, and factors causing occupational stress of 796 patients visiting our psychosomatic outpatient clinic for the purpose of studying the relation between occupational stress and psychosomatic and mental disorders. The rate of employment was 62.6% for men and 28.1% for women. By type of occupation, there were many office workers, blue-collar workers, and medical staffs except students and housewives. The prevalent diseases were mood disorders, anxiety disorders, and neuromuscular diseases in this order. The most prevalent cause of diseases in male patients (56.3%) was the occupational or workplace factors, while the most prevalent cause of diseases in female patients (42.4%) was the individual factors. These results indicated that almost half of the patients had occupational stress as the cause of their psychosomatic and mental disorders. When treating patients with occupational stress, it is important to work in close cooperation with their superiors or colleagues at work and occupational health physicians, as well as using an ordinary psychosomatic approach.

Vesicle formation in dermatomyositis associated with gynecologic malignancies

Vesicle formation in dermatomyositis is rare. We describe two women with dermatomyositis and vesicle formation on their extremities. Both had an ovarian cancer and histologic examinations revealing subepidermal vesicles. In both patients, direct immunofluorescence did not reveal deposition of immunoglobulin in the basement membrane zone. Of our two patients and the 17 previously reported to have dermatomyositis with vesicle formation, 10 had an internal malignant disease. Of these 10 patients, eight women had gynecologic malignant disease and two men had gastric cancer and lung cancer, respectively. Vesicle formation in dermatomyositis is strongly related to the presence of an internal malignant process, especially gynecologic malignant disease in female patients.

Study of Lupus Nephritis in Males

Clinical and pathological findings were studied in 23 male patients with lupus nephritis who were followed up for a period of 41 +/- 36 months after renal biopsy. Age at renal biopsy was 31 +/- 14 years and 19 patients (83 per cent) were between 15 and 50 years old. C3 and C4 levels were below normal in 23 (100 per cent) and 16 (70 per cent) respectively, CH50 was less than 25 u/ml in 67 per cent, and antinuclear and anti-DNA antibodies were found in 87 per cent and 82 per cent respectively. Serum albumin level increased from 2.9 +/- 0.8 g/dl to 3.7 +/- 0.8 g/dl during the follow up period (p less than 0.01), while urinary protein decreased from 2.0 +/- 2.3 g/day to 1.4 +/- 2.5 g/day. There was a significant improvement in the degree of haematuria (p less than 0.01), but serum creatinine levels showed no change (mean 1.5 mg/ml). Active proliferative lupus nephritis of moderate or severe degree was observed in 65 per cent of patients at the initial biopsy. A trend to regression in this activity was seen in most serial biopsies, but the chronicity index showed a slight increase. These data demonstrate that systemic lupus erythematosus in males, in comparison to our previous report of the disease in female patients, is accompanied by more active nephritis, but that it follows a benign course with therapy.

Prostatitis Associated with Chlamydia Trachomatis in 6 Patients

A number of studies have shown that Chlamydia trachomatis bacteria are important pathogens in urogenital tract infections, such as acute urethritis, acute epididymo-orchitis in male patients and pelvic inflammatory disease in female patients. We confirm a previously reported association between Chlamydia trachomatis and prostatitis. We report on 6 patients with definitive confirmation via tissue culture and an immunofluorescent technique. The results demonstrate that chlamydial prostatitis occurs in patients with nonbacterial disease. Efforts should be made to detect and eradicate the organisms from the prostate. (J. Urol., 142: 1006–1007, 1989)

Illness and Disease in Female Patients : I. Pitfalls and Inadequacies of Primary Health Care Classification Systems—a Theoretical Review

Causal understanding is looked upon as fundamental for scientific medical management. Classification systems for symptoms as well as for diagnoses are describing disease--not illness. Several conditions--most often problems presented by female patients--cannot be given an adequate classification within these systems. Reasons for this are discussed as regards communication and context of the encounter between female patients and male doctors. Medical consequences of suffering from problems with no diagnostic name are described. Several ways of relieving the doctor's inadequacy by improving the communication are suggested.

Illness and disease in female patients. II. A study of consultation techniques designed to improve the exploration of illness in general practice.

Health problems in female patients often confuse the general practitioner. Many of them are classified as "unspecific" or "various". Psychiatric, psychosomatic or musculosceletal diagnoses may imply a diagnostic level inadequate for proper solution of the problems. This study of middle-aged female patients assumes that such conceptual inadequacies are related to the communication and the context of the consultation. A consultation technique designed to improve the exploration of illness based on the women's own "medical" language is described. The results indicate that this may be an effective tool in the consultation. Mobilizing the women's own resources seems to improve the doctor's insight in her illness and the outcome of the consultation.

Improving diagnostic accuracy of the exercise test by combining R-wave changes with duration of ST segment depression in a simplified index

To enhance the reliability of the exercise test in diagnosing both overall coronary artery disease and multivessel coronary artery disease, a discriminant function was obtained by means of stepwise linear discriminant analysis. Both electrocardiographic and nonelectrocardiographic factors were used to derive the discriminant function in a retrospective group of 231 patients, 168 of whom had angiographically defined coronary artery disease. The discriminant function converted into a simple exercise index or score was then applied to a prospective group of 120 patients, 98 of whom had coronary artery disease. This index, combining R-wave changes with duration of ST segment depression and patient's sex, proved highly accurate in diagnosing coronary artery disease in male patients and in diagnosing the absence of coronary artery disease in female patients. When compared to standard ST segment criteria, the sensitivity and predictive value of the exercise index was significantly higher.