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At least 1,405 records · Page 78Linked to original sources
PubMed2006

Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.

Kallmann syndrome (KS) is a disorder characterized by hypogonadotropic hypogonadism and anosmia. Although KS is genetically heterogeneous, only two causal genes have been identified to date. These include an X-linked gene that encodes anosmin 1 and an autosomal gene that encodes fibroblast growth factor receptor 1. Mutations in these two genes result in disorders that often include, but are not limited to, severe defects in olfactory and reproductive functions. In this respect, KS can be regarded as a 'human model' for understanding critical factors that regulate olfactory and reproductive development. Here we give an overview of the disorders that stem from mutations in these two genes, with special emphasis on the cellular mechanisms underlying olfactory and reproductive anomalies. Other, less well-known aspects of KS, such as the convergence of symptoms in patients with different genetic forms of KS and the unpredictable manifestation of KS symptoms, are also discussed.

Extracellular Matrix Proteins↗
PubMed2001

Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases.

Multiple-option prenatal carrier testing in the Ashkenazi Jewish community for three and now eight disorders has been readily accepted in this prenatal, health-oriented and knowledgeable population. Counseling of screenees concerning the nature (severity, treatability, etc.), inheritance, and frequencies of each disorder was essential for informed test choices and future reproductive decision making. The value of couple testing for a group of disorders when 1 in about 6 would be found to be a carrier of at least one disease was emphasized. These studies identified issues of education, confidentiality, posttest anxiety, and self-esteem that must be continuously addressed in the Ashkenazi population. However, an important value of these studies is that they provide a framework for the development of mass carrier screening programs in the general population or in specific segments of the population with similar demographic characteristics and in more diverse prenatal populations.

Genes, Recessive↗
PubMed2003

Comparison of ceftiofur hydrochloride and estradiol cypionate for metritis prevention and reproductive performance in dairy cows affected with retained fetal membranes.

The objective of this study was to compare the effect of ceftiofur hydrochloride and estradiol cypionate (ECP) administration for metritis prevention and reproductive performance in dairy cows affected with retained fetal membranes (RFMs). After parturition, 97 dairy cows affected with RFM from a single dairy herd were randomly allocated to 1 of 3 treatment groups. Cows in-group 1 (n=31) were treated daily for 5 days with ceftiofur hydrochloride (2.2mg/kg, i.m.); cows in group 2 (n=33) were treated once with ECP (4 mg, i.m.); and cows in group 3 (n=33) were not treated. The proportion of cows with metritis, uterine involution patterns and the calving-to-conception interval were compared between groups. The proportion of cows that developed metritis was significantly different (P<0.05) in cows treated with ceftiofur hydrochloride (13%), compared with cows treated with ECP (42%) or cows that received no treatment (42%). Uterine involution patterns (i.e. median time to complete retraction of the uterus and mean diameter measure of cervix and uterine horns) were not significantly different between groups. Cows treated with ECP were 0.40 times as likely to conceive as control cows (P=0.05); median time to conception in cows treated with ECP (192 days) was longer, compared to control cows (124 days). We conclude that systemic administration of ceftioufur hydrochloride is beneficial for prevention of metritis, but its effect on reproductive performance was not significantly different to that of ECP or no treatment. In addition, administration of ECP did not have beneficial effects on metritis prevention and reproductive performance.

Animals↗
PubMed2004

Prenatal androgens alter GABAergic drive to gonadotropin-releasing hormone neurons: implications for a common fertility disorder.

Polycystic ovary syndrome, a fertility disorder affecting approximately 7% of women, is characterized by elevated androgens, disrupted reproductive cycles, and high luteinizing hormone, the latter reflecting increased gonadotropin-releasing hormone (GnRH) release. In animal models, a similar reproductive endocrine phenotype occurs after prenatal androgen exposure. To study the effects of in utero androgen exposure directly on GnRH neurons, the central regulators of fertility, we prenatally androgenized (PNA) transgenic mice that express GFP in these cells. Pregnant females were injected with dihydrotestosterone, and their female offspring were studied as adults. PNA mice had irregular estrous cycles and elevated testosterone and luteinizing hormone levels, suggesting altered hypothalamo-pituitary-gonadal axis function. GnRH neurons receive a major input from gamma-aminobutyric acid (GABA)ergic neurons, and GABA type A receptor activation may play a role in their regulation by steroids. We tested whether PNA alters GABAergic drive to GnRH neurons by comparing frequency and size of GABAergic postsynaptic currents in GnRH neurons from PNA and control females. Both postsynaptic current frequency and size were increased in PNA mice; these effects were reversed by in vivo treatment with the androgen receptor antagonist flutamide, suggesting that androgens mediated these effects. Changes in postsynaptic current frequency and size were action potential-independent, suggesting the possibility that PNA increased connectivity between GABAergic and GnRH neurons. The ability of prenatal steroid exposure to initiate changes that alter functional inputs to GnRH neurons in adults has important implications for understanding the regulation of normal reproduction as well as the hypothalamic abnormalities of fertility disorders.

Androgens↗
PubMedDate not supplied

Menstrual disorders in adolescence: investigation and management.

Menstrual disorders in adolescence may present diagnostic and management challenges for the gynaecologist. This review will describe the common and uncommon menstrual disorders that may arise in early reproductive life, together with guidance on their investigation and management.

Adolescent↗
PubMed2006

Denial of pregnancy as a reproductive dysfunction: a proposal for international classification systems.

OBJECTIVE: To propose a new Diagnostic and Statistical Manual (DSM) and International Classification of Diseases (ICD) category concerning reproductive dysfunctions not caused by organic disorder. METHODS: Forensic (n=93) and obstetrical cases (n=78) of denied and concealed pregnancies are compared and discussed. RESULTS: Denied pregnancies occur with a ratio of 1:475 births. An overwhelming phenomenological agreement is demonstrated between obstetrical and forensic cases. The findings were similar for denial and concealment of pregnancy, probably representing two different types of reproductive dysfunction that can be classified psychosocially together under the heading "negated pregnancy". CONCLUSIONS: Analogous to the phenomenology of "sexual dysfunctions", "reproductive dysfunctions" could be distinguished by the extraordinariness of both reproductive experience and behavior (as part of human sexuality) and psycho-physiological changes, which characterize the reproductive course of events and cause obvious suffering and interpersonal complications. It is therefore suggested to include these entities as categories in their own right under the appropriate existing headings in DSM and ICD.

Adolescent↗
PubMed1982

Infertility and depression.

This is a preliminary report of an ongoing study of the relationship between unexplained infertility and depressive illness conducted by a team of two specialists: a gynecologist and a psychiatrist. Over a 3-year period, 16 cases of unexplained infertility and depressive illness were treated by the team. Nine of the cases received psychiatric treatment, consisting of pharmacotherapy with Amitriptyline and a limited number of psychotherapy sessions. The other seven cases terminated with the psychiatrist after the psychiatric evaluation. Three of the cases that received the psychiatric treatment became pregnant. Follow-up at the end of the 3-year period revealed that none of the 13 others (psychiatrically treated and untreated) had become pregnant. These preliminary data suggest that in cases of depression preceding the onset of unexplained infertility psychiatric treatment as described above increases reproductive capacity.

Adult↗
PubMed1997

The sword of Damocles: the psychosocial impact of familial spinocerebellar ataxia in South Africa.

A survey was conducted on 30 unaffected individuals from a family with autosomal dominant late onset spinocerebellar ataxia in South Africa. The psychological impact of the disorder on individual lives, risk awareness, attitudes towards affected kin and reproduction were evaluated. Respondents employed various psychological strategies to deal with the threat of developing the disorder. In a comparison of "assigned" risk with "perceived" risk, 80% of unaffected persons reported incorrect perceptions of personal risk status. The disorder had little impact on attitudes concerning reproduction; the majority of individuals at risk wanted more children. These issues need to be addressed in the genetic and predictive testing service for familial ataxia in South Africa.

Adolescent↗
PubMed1993

[Infertility--trends in psychosomatic research].

A preliminary review of the development of psychosomatic research on fertility disorders during past decades is followed by an outline of those psychological aspects of fertility disorders currently sponsored by the German government as a focus of research. The relationship between experts from the field of reproductive medicine and psychologists or psychosomatic researchers is examined. Finally, existing research deficits and methodological problems arising in the area are discussed.

Adaptation, Psychological↗
PubMed2005

Disciplining the feminine: the reproduction of gender contradictions in the mental health care of women with eating disorders.

This paper provides insights into the way gendered assumptions operate within health care interventions for women with eating disorders. A multidisciplinary sample of Australian health care workers were interviewed about their approaches to treatment, and discourse analysis was used to uncover the discursive dynamics and power relations characterising their accounts of intervention. The paper demonstrates a contradictory positioning of anorexic patients in relation to autonomy and control within the two common psychiatric interventions of bed rest intervention and psychotherapy. The paper argues that this is based on gendered assumptions about selfhood and femininity in eating disorders that are reproduced in the therapeutic relationship through the operation of a gendered parent-child dynamic, with the health care worker as father or mother, and the anorexic patient as daughter. One of the main effects of this is to re-inscribe rather than challenge the discursive 'double bind' of femininity that has been widely implicated by post-structural feminists in producing eating disorders in the first place. The paper also considers the widely acknowledged problem of resistance to treatment in anorexia as a function of controlling treatments, and discusses psychiatrists' perspectives on addressing this dilemma. Finally, the paper examines the potential of feminist-informed understandings of eating disorders for overcoming the gendered dilemmas inherent within the dominant psycho-medical treatment paradigm.

Attitude to Health↗
PubMedDate not supplied

Reproductive health and blurred professional boundaries.

We recognize that many of the issues raised are not simple. Our proposal calls for the same thoughtful deliberation applied in other settings to be brought to bear on reproductive health care. Some have already tried alternative approaches. In Albuquerque, New Mexico, a university hospital neonatologist and the district attorney have collaborated to create an alternative to sentencing program for women who are arrested for drug-related crimes and found to be both pregnant and drug addicted. Rather than proceed with criminal sanctions, these women are offered entry into a drug treatment program that is geared to families with young children and run by the pediatrics department. Here, the physician and the district attorney collaboratively responded in ways congruent with the professional integrity of each. In another example in Portland, Oregon, physicians, drug treatment providers, and child protective social service representatives cooperatively defeated a legislative proposal to mandatorily test and report pregnant women for illicit drug use and, instead, formed a task force to jointly develop state policy regarding the issue. Drug use, HIV infection, child abuse, and poverty are all cause for alarm. Yet it is critical that our frustration about these difficult problems not be translated into blaming individuals for "deviance," or into short-term inadequate responses. In developing policy we should consider the impact on the legal and ethical rights and obligations of both patient and physician. For every course, we should evaluate both immediate and long-term efficacy, the consequences for the doctor-patient relationship, and the consequences for medical integrity. In the midst of the present regulatory and fiscal turmoil affecting health care, we urge physicians to be careful and deliberate in the policies they embrace and the actions they take.

Confidentiality↗
PubMed2004

Management of bipolar disorder during pregnancy and the postpartum period.

OBJECTIVE: Bipolar disorder affects 0.5%-1.5% of individuals in the United States. The typical age at onset is late adolescence or early adulthood, placing women at risk for episodes throughout their reproductive years. General guidelines for the treatment of bipolar disorder are available from the American Psychiatric Association, but additional issues arise when these guidelines are applied in the treatment of peripartum women. The authors summarize knowledge regarding the management of bipolar disorder during pregnancy and the postpartum period, with a focus on managing mania, hypomania, and the psychotic components of the illness. METHOD: An expert panel reviewed articles that address the management of bipolar disorder and the consequences of the use of mood stabilizers during pregnancy, and a consensus document was generated. RESULTS: The treatment of bipolar disorder in pregnant women involves significant challenges. Some mood stabilizers, e.g., sodium valproate and carbamazepine, are human teratogens. On the other hand, the teratogenicity associated with lithium may have been overestimated in the past. CONCLUSIONS: Since treatment can be managed most effectively if pregnancy is planned, clinicians should discuss the issue of pregnancy and its management with every bipolar disorder patient who has childbearing potential, regardless of future reproductive plans. Additional research should address the risks of disturbed sleep to pregnant and postpartum women with bipolar disorder, as well as structural and behavioral consequences to offspring when mood stabilizers are used during pregnancy. Longitudinal and cohort studies can promote these efforts. Given the rate of bipolar disorder in the general population, research efforts will need to be broad based and include multiple collaborating centers.

Adolescent↗
PubMed1998

Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern United States: a prospective study.

Estimates of the prevalence of the polycystic ovary syndrome (PCOS) in the general population have ranged from 2-20%. The vast majority of these reports have studied White populations in Europe, used limited definitions of the disorder, and/or used bias populations, such as those seeking medical care. To estimate the prevalence of this disorder in the United States and address these limitations, we prospectively determined the prevalence of PCOS in a reproductive-aged population of 369 consecutive women (174 White and 195 Black; aged 18-45 yr), examined at the time of their preemployment physical. Body measures were obtained, and body hair was quantified by a modified Ferriman-Gallwey (F-G) method. All exams were initially performed by 2 trained nurses, and any subject with an F-G score above 3 was reexamined by a physician, the same for all patients. Of the 369 women, 277 (75.1%) also agreed to complete a questionnaire and have additional blood drawn. Subjects were studied regardless of current estrogen/progestin hormonal use (28.5%). PCOS was defined as 1) oligoovulation, 2) clinical hyperandrogenism (i.e. hirsutism) and/or hyperandrogenemia, and 3) exclusion of other related disorders, such as hyperprolactinemia, thyroid abnormalities, and non-classic adrenal hyperplasia. Hirsutism was defined by a F-G score of 6 or more, and hyperandrogenemia was defined as a total or free testosterone, androstenedione, and/or dehydroepiandrosterone sulfate level above the 95th percentile of control values [i.e. all eumenorrheic women in the study, who had no hirsutism (F-G < or = 5) or acne and were receiving no hormonal therapy; n = 98]. Considering all 369 women studied, White and Black women had similar mean ages (29.4 +/- 7.1 and 31.1 +/- 7.8 yr, respectively), although White women had a lesser body mass than Black women (24.9 +/- 6.1 vs. 29.2 +/- 8.1 kg/m2, respectively; P < 0.001). Of these 7.6%, 4.6%, and 1.9% demonstrated a F-G score of 6 or more, 8 or 10, respectively, and there was no significant racial difference, with hirsutism prevalences of 8.0%, 2.8%, and 1.6% in Whites, and 7.1%, 6.1%, and 2.1% in Blacks, respectively. Of the 277 women consenting to a history and hormonal evaluation, 4.0% had PCOS as defined, 4.7% (6 of 129) of Whites and 3.4% (5 of 148) of Blacks. In conclusion, in our consecutive population of unselected women the prevalence of hirsutism varied from 2-8% depending on the chosen cut-off F-G score, with no significant difference between White and Black women. Using an F-G score of 6 or more as indicative of hirsutism, 3.4% of Blacks and 4.7% of Whites had PCOS as defined. These data suggest that PCOS may be one of most common reproductive endocrinological disorders of women.

Acne Vulgaris↗
PubMed1997

Endometrial cancer and hormone replacement therapy. Appropriate use of progestins to oppose endogenous and exogenous estrogen.

Most instances of endometrial cancer are potentially preventable. Unopposed endogenous estrogen stimulation of the endometrium has been shown to be the predisposing risk factor in most cases. Risk factors have been well-delineated, and it is important to recognize and treat the progesterone-deficient patient. Low-dose oral contraceptive pills in healthy, nonsmoking, older reproductive-aged women are an underutilized treatment modality. The many noncontraceptive benefits of longterm oral contraceptive use until the menopause should be explained to the patient, including the prevention of ovarian and endometrial cancer, the maintenance of bone density, and a reduction in the many surgical procedures performed for menstrual disorders. Progestin therapy in older reproductive-aged women and postmenopausal women with unopposed estrogen production is mandatory to prevent endometrial cancer. Knowledge and skill in simple endometrial sampling techniques performed in patients with known risk factors for endometrial cancer will often detect premalignant lesions that are treatable with progestin therapy or surgery.

Biopsy↗