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PubMed1988

Testicular feminization syndrome.

The testicular feminization syndrome occurs as a result of faculty genetic programming. This inherited condition causes an XY male embryo to develop into a person who has an XY karyotype and a female appearance. The described individual appears "female" at birth and is naturally socialized as a female. A testicular feminized "female" may seek routine health care at a primary health care center. Upon examination, certain identifying physical characteristics may be observed. Primary amenorrhea and infertility are inherent characteristics of the condition. This article describes the testicular feminization syndrome, its etiology/pathophysiology and both subjective and objective findings. Nursing interventions such as data collection, family tree charts, Barr body screening, education, referral and counseling are suggested. Nurse practitioners have the opportunity to identify suspected cases and direct those individuals toward appropriate treatment and discreet counseling. Counseling generally will emphasize that the TFS individual may consider herself female.

Androgen-Insensitivity Syndrome↗
PubMed2001

Is informed choice in genetic testing a different breed of informed decision-making? A discussion paper.

Traditionally genetic counselling has promoted a non-directive approach to patients' decision-making but the feasibility of this has been questioned. Unlike most branches of medicine, which are shifting away from a paternalistic model, genetic counselling is approaching shared decision-making from a different perspective. There are certain features of genetic counselling and genetic testing which may complicate the drive towards shared decision-making and informed choice: 1. Genetic test results can have broader implications than non-genetic test results. 2. Genetic test results may be perceived by the patient differently to non-genetic test results. 3. Carrier status for autosomal recessive conditions may be difficult for patients to conceptualize. 4. Decisions in genetic counselling are often multiple and sequential. 5. Most information in genetic counselling is based on probabilities and uncertainties. Each of these features is discussed in relation to achieving shared decision-making in genetic testing and the implications for genetic counsellors are described. The points raised, however, have broader implications for medicine as several of the features, although central to genetic testing, are not entirely unique. Lessons learnt from genetic testing and genetic counselling in achieving shared decision-making could help develop methods of promoting informed choice in other medical arenas such as cancer screening.

Decision Making↗
PubMed1995

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis.

Accurate diagnosis of neuronal ceroid lipofuscinosis (NCL) is important for a correct prognosis of the disease and for genetic counseling. Up to now, no direct diagnostic test has been available for NCL. The clinical diagnosis is made on the basis of symptoms, neurophysiological, neuroradiological, and specific lipopigment pattern data. Recent advances in the genetics of NCL have enabled us to use polymorphic DNA markers linked to the CLN1 and CLN3 loci as a tool in the differential diagnosis of NCL. We have applied genetic analysis with polymorphic DNA markers flanking the CLN3 gene on chromosome 16 to two consanguineous families in which NCL occurs. In the first family, which is of Turkish extraction, two patients suffering from a protracted form of juvenile NCL previously had been diagnosed with juvenile NCL. Haplotypes from this family indicate that the patients and their healthy sibling are haplo-identical, suggesting that this protracted form of juvenile NCL is not linked to the CLN3 locus. In the second family, which is of Moroccan origin, one patient suffers from the early juvenile variant of NCL (Lake-Cavanagh). In this family, the patient and one of the healthy siblings have identical haplotypes, excluding linkage of early juvenile NCL to the CLN3 locus on 16p12.1-11.2. Therefore, these cases from different populations demonstrate that haplotype analysis can be used as an additional method to exclude the diagnosis of juvenile NCL.

Adult↗
PubMed2006

Should health care professionals encourage living kidney donation?

Living kidney donation provides a promising opportunity in situations where the scarcity of cadaveric kidneys is widely acknowledged. While many patients and their relatives are willing to accept its benefits, others are concerned about living kidney programs; they appear to feel pressured into accepting living kidney transplantations as the only proper option for them. As we studied the attitudes and views of patients and their relatives, we considered just how actively health care professionals should encourage living donation. We argue that active interference in peoples' personal lives is justified - if not obligatory. First, we address the ambiguous ideals of non-directivity and value neutrality in counselling. We describe the main pitfalls implied in these concepts, and conclude that these concepts cannot account for the complex reality of living donation and transplantation. We depict what is required instead as truthful information and context-relative counselling. We then consider professional interference into personal belief systems. We argue that individual convictions are not necessarily strong, stable, or deep. They may be flawed in many ways. In order to justify interference in peoples' personal lives, it is crucial to understand the structure of these convictions. Evidence suggests that both patients and their relatives have attitudes towards living kidney donation that are often open to change and, accordingly, can be influenced. We show how ethical theories can account for this reality and can help us to discern between justified and unjustified interference. We refer to Stephen Toulmin's model of the structure of logical argument, the Rawlsian model of reflective equilibrium, and Thomas Nagel's representation of the particularistic position.

Coercion↗
PubMedDate not supplied

Comprehensive health promotion for the pregnant woman who is disabled. The role of the midwife.

Increasing numbers of women with physical or sensory disabilities are choosing to bear children. Research and experience seem to indicate serious shortcomings in assisting disabled primiparas toward confident, healthy, and safe childbearing and childcaring. Guidelines are suggested for appropriate referral or direct provision of education and counselling services for such clients during prepregnancy, pregnancy, labor and delivery, and the postpartum period. Useful resources are identified to assist the nurse-midwife in her role.

Activities of Daily Living↗
PubMed2004

Beliefs and behaviours: understanding chiropractors and immunization.

BACKGROUND: Concerns have been raised about the beliefs and behaviours of chiropractors related to immunization; however, none have systematically examined the relationships between beliefs and behaviours. PURPOSE: We examine the immunization-related behaviours and beliefs of chiropractors in Alberta, Canada, and explore the relationship of beliefs to immunization-related behaviours with patients. METHODS: Data were collected in 2002 from a postal survey of Alberta chiropractors. The questionnaire inquired about six behaviours of interest in the six months prior to survey (gave information about risks/benefits of vaccination; advised patients in favour/against have self/children immunized; counselled on freedom of choice; directed to sources of information on immunization). It included items addressing beliefs and norms related to immunization. RESULTS: The response rate was 78.2% (503/643). Immunization arose with patients at least monthly for 36.5% of respondents, and at least weekly for 9.2%. One quarter advised patients in favour and 27% against having themselves/their children immunized. A parsimonious model of chiropractor pro/anti-vaccination behaviours included beliefs about the efficacy/safety of vaccination, chiropractic philosophy and individual rights. CONCLUSIONS: Similar proportions of chiropractors advise patients in favour or against immunization. A small minority deals with immunization issues frequently. Behaviours can be understood in the context of beliefs.

Attitude of Health Personnel↗
PubMed1994

Diet and lifestyle modification and its relationship to atherosclerosis.

Much of the CHD protective effects of diet are mediated through the effects of diet on risk factor levels. The best studied are the effects of diet on lipoprotein levels and blood pressure. With these effects in mind, specific dietary recommendations have been made to reduce CHD rates among healthy Americans. Dietary modification will reduce risk factor levels in the majority of people and will have measurable impact on CHD rates in the nation (Table 9). In the treatment of patients, it is important to distinguish which lipoprotein and blood pressure abnormalities are amenable to diet and which ones require drug therapy. This distinction can be made by understanding the quantitative relationship between dietary intake and risk factor levels that has been presented here and by assessing the current dietary intake of the individual. There must be a significant change in dietary composition to produce a significant change in risk factor level. This point, although it appears obvious when stated, is a common source of confusion concerning the efficacy of diet. For individuals, most nonresponse to dietary change reflects the lack of a dietary change. Poor adherence, in turn, may be the direct result of inadequate diet counseling. Counseling with a registered dietitian may be useful not only in educating the high-risk patient concerning the nutrient content of food, but also in establishing the current dietary intake of the patient. Compliance is not the only cause of nonresponse. For some patients who are already following a CHD prevention diet, additional risk factor reductions may not be evident when minor dietary constituents are altered. Because the majority of the diet effect has already been achieved, this "nonresponse" should not be surprising. The benefit of a change in a minor dietary constituent may not be detectable above the random day-to-day variation in risk factor levels. Lastly, although true nonresponders to diet have been observed, at least for blood cholesterol levels, the prevalence of nonresponse or minimal response is less than 10% of the population. Although the small changes in risk factor levels achieved by diet cannot compare with the greater changes achieved by drug therapy, dietary therapy will always have an important place in altering the health of the United States and its people. For some individuals, dietary and lifestyle modification may be all that is needed for CHD prevention; for others, dietary and lifestyle modifications provide a foundation on which drug therapy can be added for maximum CHD risk reduction.

Arteriosclerosis↗
PubMed2001

Inherited disorders of the gonadotropin hormones.

Pulsatile GnRH acts at the GnRH receptor on gonadotropes to stimulate gonadotropin gene expression, hormone synthesis and secretion. The pituitary gonadotropins, LH and FSH, stimulate steroid production and gametogenesis in males and in females. Gonadotropin production thus requires the normal development and function of hypothalamic GnRH-producing neurons and pituitary gonadotrope cells. Genes involved in gonadotrope development and/or gene expression include SF1, DAX1, KAL, GNRHR, PC1, HESX1, LHX3, PROP1, LH beta, and FSH beta. Given the complex control of gonadotropin biosynthesis and secretion, it is not surprising that genetic abnormalities have been identified at several of these steps. Some of the mutations that will be reviewed include: (1) SF1 and DAX1-orphan nuclear receptors that are expressed at multiple levels throughout the reproductive axis; (2) KAL-X-linked Kallmann syndrome, where there is abnormal development of hypothalamic GnRH-producing neurons; (3) PC1-causing abnormal processing of GnRH and GNRHR mutations that impair action at the GnRH receptor; (4) HESX1, LHX3, PROP1-abnormal development/function of the gonadotrope cell lineage; (5) LH beta and FSH beta-mutations in the gonadotropin genes that cause structural abnormalities in the hormones. Although all of these gene defects lead to gonadotropin deficiency, each disorder is associated with unique phenotypic or hormonal features. Characterization of the molecular basis of gonadotropin deficiency is useful for directing therapy and for genetic counseling. Identification of these mutations also provides insight into the pathways that govern reproduction.

Animals↗
PubMed1999

Rectal diazepam: pitfalls of excessive use in refractory epilepsy.

INTRODUCTION: The rectal administration of diazepam (DZP) has provided a safer existence to many epilepsy patients and their carers, when prolonged or serial seizures are present. However, in patients with frequent seizures, chronic, intermittent over-administration may occur, particularly in the presence of multihandicaps. METHODS: Six patients who experienced untoward effects from excessive rectal DZP are reported. In two patients, serial plasma levels of DZP and its active metabolites were monitored. RESULTS: Three patients exhibited a pattern of cyclic reappearance of seizures, interrupted by rectal DZP, followed by sedation and gradual awakening. The intervals were approximately 4 days. The three other patients had variable and complex symptoms with serial seizures and alternating states of tension, apathy, and sleepiness. The plasma levels of DZP and desmethyl-DZP showed rapid fluctuations. CONCLUSION: When rectal DZP is prescribed, chronic and excessive administration should be avoided. Fluctuating plasma-levels may probably support a cyclic reappearance of seizures in some patients. The combination of high bolus doses and a rapid drug clearance due to enzyme inducing co-medication may probably increase the risk for rebound reactions. Toxic, withdrawal, and epileptic symptoms may be intermingled and difficult to manage. A replacement strategy in the form of a prophylactic, oral, low dose benzodiaepine regimen may facilitate the discontinuation of this prescription pattern. Adequate counselling and medically appropriate, written directions for the use of rectal DZP is mandatory.

Administration, Rectal↗
PubMed1981

Life events and burnout.

A sample of 54 males and 134 females, most of whom were in direct service positions of a counseling and social work nature, was given a battery of instruments, including a measure for burnout (an occupational form of excessive stress), life events, and items concerning satisfaction with work and life in general. The results indicate that negative life change events may promote burnout or aggravate it but positive events will buffer its impact. The outcome implies that reducing negative factors on the job is important but promoting positive events also plays a vital role in reducing the likelihood of its occurrence.

Adult↗
PubMed1983

Clients' and therapists' perspectives on reasons for seeking therapy.

This study examined whether therapists and clients view clients' motives for seeking therapy differently, as predicted by the divergent perspectives hypothesis which states that actors have a tendency to see their own behavior as being caused by external factors, whereas observers may perceive the causes to be internal. Participants were divided into three groups: 21 clients who gave their motives in seeking therapy, 28 therapists who gave the reasons why they felt clients sought therapy, and 15 therapists who responded to the hypothetical situation of why they themselves would seek counseling if the need arose. Direction was given to orient responses to the dimension of internal-external forces for all groups. Contrary to expectations, the results indicate that therapists and clients did not view clients' motives for seeking therapy from different perspectives.

Attitude of Health Personnel↗
PubMed2004

Demographic, medical and treatment characteristics associated with couples' decisions to donate fresh spare embryos for research.

BACKGROUND: Isolation of human embryonic stem cell lines has opened a promising and pioneering area of basic and applied medical research. The issues in relation to a couples' decision in donating their supernumerary embryos for research need to be investigated further. METHODS: We carried out a prospective study of 300 couples who underwent IVF/ICSI treatment cycles in our unit. We analysed various factors contributing to their decision to consent to donate spare embryos for stem cell or preimplantation genetic diagnosis research. RESULTS: The majority of couples (54%) consented to donate their surplus embryos for research. Couples of ethnic minority origin were less willing to consent for research compared to Caucasian couples. The number of ovarian follicles at pre-hCG scan and the number of embryos obtained were significantly higher in couples consenting for research. The funding source of treatment did not appear to influence the decision to donate. Couples with previous failed fertilization were less likely to consent to embryo research. CONCLUSIONS: Physical characteristics based on ovarian response during a treatment cycle may positively influence a couple's decision to donate embryos. Further studies are needed to identify those couples who are likely to agree to research so that counselling for research can be directed efficiently.

Adult↗
PubMed2000

Diet and oral health.

This review paper looks at the effects of diet on oral health and is concerned mainly with the effects of localised attacks on the dental hard tissues. In analysing the epidemiological evidence, the paper draws distinctions between the rates of diseases entities in developed and developing countries. The author concludes that oral health risks do not necessitate dietary recommendations in addition to, or other than, those required for maintenance of general health. The paper indicates an increasing need for evidence-based, individual tailor-made counselling and for specific programmes directed towards defined, high-risk groups or populations whose oral health problems have been carefully studied and identified.

Beverages↗
PubMed2005

Mild cognitive impairment.

Mild cognitive impairment (MCI) describes a state of cognitive functioning that is below defined norms, yet falls short of dementia in severity. It exists across a cognitive continuum with borders that are difficult to define precisely. Within our "graying" western societies, its prevalence increases with age. A number of subtypes of MCI, including age-associated memory impairment (AAMI), age-associated cognitive decline (AACD), amnestic MCI (MCIa), and cognitive impairment not dementia (CIND) have contributed to our understanding of MCI. Recent efforts have been directed at developing a uniform diagnostic classification for MCI that reflects the maturation of knowledge about this state. There is considerable etiological and clinical heterogeneity within MCI; however, there is a unifying increased risk of progression to dementia. The diagnostic process for MCI involves assessment of multiple cognitive domains, with particular attention to episodic and semantic memory, while neuroimaging with structural MRI and PET both add to the diagnostic and prognostic evaluation of MCI. Although there are no pharmacological treatments at present that are capable of delaying the long-term progression of MCI to dementia, there is some evidence of short-term symptomatic benefits with acetylcholinesterase inhibitors. MCI is an important clinical problem, which clinicians can expect to face with increasing frequency. The essentials of management include a thorough assessment directed at etiological determination and counseling and judicious use of available therapeutics.

Aged↗
PubMed1988

Consumer preferences for verbal and written medication information.

The extent of medication use and drug information preferences was surveyed randomly from patients at six different pharmacy health care systems. Following verbal consultation, each patient was given one or more modified United States Pharmacopoeia drug information leaflets corresponding to the verbal information and a self-addressed, stamped questionnaire to complete. Chi-square analysis was performed on 317 responses with overwhelming acceptance (96 percent) of the medication information provided. Although a majority of respondents (62 percent) preferred a combination of both written and oral information, specific information preferences (oral, written, or both) were significantly related to educational level, pharmacy attended, and prescription status. Nearly 45 percent of the respondents indicated the information was responsible for changing their medication use. Subjects who were elderly, taking cardiovascular medications, or getting refill prescriptions were significantly less likely to change as a result of the information provided. Although 65 percent of the respondents were unwilling to pay an additional fee for the service, females and those who were 45-54 years and over 65 years old were significantly more willing to pay for the information. In addition, the willingness to pay tended to increase as the number of daily medications taken increased. Consideration of socioeconomic and prescription variables may help define subgroups with specific information preferences and counseling activities that may be directly reimbursable.

Adolescent↗
PubMed2002

Analysis of problem types and difficulty among older stroke caregivers.

Stroke onset causes disruption of family roles as caregiving tasks are assumed. The current study presents a qualitative and quantitative analysis of the problems of 123 older, spousal stroke caregivers. Problems were coded into 14 categories; frequencies of occurrence and difficulty were also analyzed. Differences in problem difficulties were examined by race, gender, years caregiving, and care receiver's functional level, depression, burden, and loneliness. Noncompliance was the least frequent but most difficult problem type. Lack of social involvement was the most frequent problem type and the most difficult for the more depressed, burdened, and lonely caregivers. This increase in problem specificity and detail of analysis has provided direction for clinical application in counseling the spouses of stroke survivors on how to manage the stress of their new life role.

Journal Article↗
PubMed1998

Hereditary Factors in Gynecologic Cancer.

Cancer predisposition in some families is known to be the result of germ-line mutations. The most noteworthy hereditary gynecologic cancer syndromes include hereditary breast-ovarian cancer (HBOC) syndrome, wherein BRCA1 and BRCA2 germ-line mutations have been identified, and hereditary nonpolyposis colorectal cancer (HNPCC) of the Lynch syndrome II variant, wherein hMSH2, hMLH1, hPMS2, hMSH3, and hMSH6 germ-line mutations have been identified. DNA testing for specific cancer-associated germ-line mutations is now available for HBOC and HNPCC syndrome family members who are in the direct line of inheritance. Genetic counseling is mandatory prior to DNA testing and at the time of disclosure of findings. A patient found to be negative for the family's particular cancer-associated germ-line mutation can revert to general population screening recommendations. When a deleterious mutation is identified, the physician is able to predict a patient's lifetime susceptibility to breast and ovarian carcinomas in the HBOC syndrome or the cancers which characterize the Lynch syndrome II variant of HNPCC, particularly carcinomas of the colon, endometrium, and ovary. Management strategies can be offered which are designed to take advantage of the natural history of that distinct hereditary cancer syndrome. We discuss the unfolding developments concerning familial and heritable susceptibilities, molecular genetics, and possible carcinogenic co-factors of the three most common gynecologic cancers: carcinomas of the uterine cervix, endometrium, and ovary. We offer rationales for management based on current epidemiologic and clinical data and emerging technologies.

Journal Article↗
PubMed1999

[Identification of mutations in the human EXT1 and EXT2 genes].

OBJECTIVE: To investigate further the genetic basis of hereditary multiple exostoses (EXT) and provide useful information for gene diagnosis of the disease. METHODS: Polymerase chain reaction-single strand conformation polymorphism was used to examine the entire coding regions of EXT(1) gene on chromosome 8 and EXT(2) gene on chromosome 11 for mutation in thirty EXT families. Mutations were further identified by sequencing. RESULTS: Two frameshift mutations were identified in two unrelated EXT families. One was the deletion of one base(T) in exon 6 of the EXT(1) gene, and the other was the deletion of four bases (tgtt) in exon 2 of the EXT(2) gene. Both of the mutations resulted in a frameshift and premature termination of translation. CONCLUSION: EXT is a genetically heterogeneous bone disorder caused by the mutation of EXT tumor suppressor gene. These results could be directly applied in the genetic counseling and prenatal genetic diagnosis of EXT.

Chromosome Deletion↗