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Prenatal diagnosis of beta-thalassaemia and sickle cell anaemia in Turkey.

This paper reports our experience of molecular analysis and diagnosis of beta-thalassaemia and sickle cell anaemia (HbS) in 70 prospective parents of Turkish descent and their fetuses. Molecular screening was carried out by allele-specific oligonucleotide (ASO) hybridization of amplified DNA to the 12 most common mutations in the Turkish population. By using this approach, we were able to define the mutation in 95 per cent of chromosomes investigated. Genomic sequencing led to the additional detection of three rare mutations: Cd 44 (-C), IVS-I-5 (G-C), and IVS-I-116 (T-G). All diagnoses were successfully accomplished and no misdiagnosis occurred. Consanguineous marriage appears to contribute significantly to the frequency of affected births in Turkey. Out of the 14 homozygous fetuses, six were the result of close consanguinity. This study indicates that fetal diagnosis of beta-thalassaemia and HbS may be obtained in practically all cases, even in a heterogeneous population like the Turkish population, when early methods of fetal sampling are combined with polymerase chain reaction (PCR)-based techniques. Until gene therapy becomes a reality, the only approaches to the control of haemoglobinopathies are prevention and avoidance. The most relevant and common aspects of the programmes, which have been very effective in reducing the birth rate of beta-thalassaemia major in several at-risk areas of the Mediterranean basin, are the continuous educational campaigns directed at the population at large, the voluntary basis, and non-directive counselling. The most important challenge for the eradication of the haemoglobinopathies in Turkey is the organization of a nation-wide and comprehensive genetic preventive programme based on DNA technology.

Anemia, Sickle Cell↗

Psychological treatment of post-traumatic stress disorder (PTSD).

BACKGROUND: Psychological interventions are widely used in the treatment of post-traumatic stress disorder (PTSD). OBJECTIVES: To perform a systematic review of randomised controlled trials of all psychological treatments except eye movement desensitisation and reprocessing following the guidelines of the Cochrane Collaboration. SEARCH STRATEGY: Systematic searches of computerised databases, hand search of the Journal of Traumatic Stress, searches of reference lists, known websites and discussion fora, and personal communication with key workers. SELECTION CRITERIA: Types of studies - Any randomised controlled trial of a psychological treatment. Types of participants - Adults suffering from traumatic stress symptoms for three months or more. Types of interventions - Trauma-focused cognitive behavioural therapy/exposure therapy (TFCBT); stress management (SM); other therapies (supportive therapy, non-directive counselling, psychodynamic therapy and hypnotherapy); group cognitive behavioural therapy (group CBT). Types of outcomes - Severity of clinician rated traumatic stress symptoms. Secondary measures included self-reported traumatic stress symptoms, depressive symptoms, anxiety symptoms, adverse effects and dropouts. DATA COLLECTION AND ANALYSIS: Data was entered using the Review Management software. Quality assessments were performed. The data were analysed for summary effects using the RevMan 4.2 programme. MAIN RESULTS: Twenty-nine studies were included in the review. With regards to reduction of clinician assessed PTSD symptoms TFCBT did significantly better than waitlist/usual care (standardised mean difference (SMD) = -1.36; 95% CI, -1.88 to -0.84; 13 studies; n = 609). There was no significant difference between TFCBT and SM (SMD = -0.27; 95% CI, -0.71 to 0.16; 6 studies; n = 239). TFCBT did significantly better than other therapies (SMD = -0.81; 95% CI, -1.19 to -0.42; 3 studies; n = 120). Stress management did significantly better than waitlist/usual care (SMD = -1.14; 95% CI, -1.62 to -0.67; 3 studies; n = 86) and than other therapies (SMD = -1.22; 95% CI, -2.09 to -0.35; 1 study; n = 25). There was no significant difference between other therapies and waitlist/usual care control (SMD = -0.43; 95% CI, -0.90 to 0.04; 2 studies; n = 72). Group TFCBT was significantly better than waitlist/usual care (SMD = -0.72; 95% CI, -1.14 to -0.31). AUTHORS' CONCLUSIONS: There was evidence that individual TFCBT, stress management and group TFCBT are effective in the treatment of PTSD. Other non-trauma focused psychological treatments did not reduce PTSD symptoms as significantly. There was some evidence that individual TFCBT is superior to stress management in the treatment of PTSD at between 2 and 5 months following treatment, and also that TFCBT was also more effective than other therapies. There was insufficient evidence to determine whether psychological treatment is harmful. There was some evidence of greater drop-out in active treatment groups.

Adult↗

An evaluation of traditional and alternative mental health facilities.

Traditional mental health facilities were compared with alternative mental health facilities on their response to a crisis situation. Over one-third of the total sample of facilities (n = 50) did not respond with any help. Alternative facilities gave more direct counseling than did traditional facilities, indicating the particular suitability of alternative facilities for crisis intervention.

California↗

Ethics and medical genetics in the United States: a national survey.

The approaches of 295 medical geneticists in the United States to 14 clinical problems and 3 screening situations that required a moral choice are summarized. These data are part of a survey of 682 geneticists in 19 nations. Of 490 U.S. geneticists asked to participate, 295 (60%) returned anonymous detailed questionnaires. There was strong (greater than 75%) consensus that preserving the mother's confidentiality overrides disclosure of true paternity; that conflicting test results, new/controversial interpretations of results, and ambiguous/artifactual results should be disclosed; that artificial insemination by donor, adoption, taking chances, contraception, sterilization, and in-vitro fertilization with a donor egg should be presented as reproductive options to carriers of disorders not diagnosable prenatally; that prenatal diagnosis should be performed for patients who refuse abortion and for maternal anxiety in the absence of medical indications; that screening in the workplace should be voluntary. There was no consensus about disclosure of a diagnosis of Huntington disease or hemophilia A to relatives at risk, against the patient's wishes, or about disclosure of parental translocations. Geneticists in the U.S. differed from 18 other nations in presenting surrogate motherhood as an option (67%); willingness to perform prenatal diagnosis for sex selection or refer (62%); and disclosure of XY genotype in a female (62%). Men were more likely than women to say that they would give directive counseling. Women were more likely than men to say that they would perform prenatal diagnosis for maternal anxiety or for sex selection.

Confidentiality↗

Ethically justified clinical strategies for promoting geriatric assent.

OBJECTIVE: To develop ethically justified clinical strategies for promoting geriatric assent with a focus on the application of professional virtues. METHOD: The concept of geriatric assent was extended to all geriatric patients incapacitated by cognitive impairments, including dementias, and practical clinical steps for promoting geriatric assent were developed. RESULTS: A four step-process for promoting geriatric assent is proposed by balancing the principles of beneficence and respect for autonomy within the context of the psychiatrist's virtues. These four steps include identifying the patient's long-standing values and preferences; assessing plans of care in terms of biopsychosocial safety and independence along with the patient's values and preferences; protecting remaining autonomy; and cultivating the professional virtues of steadiness, self-effacement, and self-sacrifice when making decisions that risk the patient's future health and safety. CONCLUSIONS: In promoting geriatric assent, psychiatrists are obligated to support and directively counsel the patient's surrogate to adopt care plans that promote the patient's values and preferences to the extent possible. These clinical strategies for promoting geriatric assent should serve to enhance the patient's remaining sense of integrity and dignity. These strategies should also protect remaining health status and therefore protect remaining autonomy.

Aged↗

Induced abortion: an ethical conundrum for counselors.

Induced abortion is one of the most controversial moral issues in American culture, but counselor value struggles regarding abortion are seldom addressed in counseling literature. This article considers the conflictual nature of the the ethical principles of autonomy, fidelity, justice, beneficence, and nonmaleficence as they can occur within the context of the counseling relationship, particularly with clients considering abortion. In addition, the authors present strategies for counselor self-evaluation, offer recommendations, and provide questions to facilitate ethical decision making.

Abortion, Induced↗

Iniencephaly is not uniformly fatal.

Iniencephaly is an uncommon, but not rare, lesion involving a fusion between the posterior occipital bone and the cervical spine. Many cases are associated with other cranio-cervical abnormalities and anencephaly, and most are associated with other structural abnormalities. The prognosis is thought to be dismal. We describe a male infant, one of twins, who was diagnosed prenatally as having iniencephaly. The child was born without complication and has grown and thrived. This is the fourth patient with long-term survival with iniencephaly. We recommend that non-directive counselling be applied when presenting the findings of iniencephaly to parents.

Abnormalities, Multiple↗

Women's choices for fetal chromosome analysis.

Five hundred and eighty women aged 35 or more at the expected date of delivery were offered the chance to join the MRC trial comparing CVS and amniocentesis at Queen Charlotte's Hospital. After a 1 h non-directive counselling session, they were asked to choose between having no test, having amniocentesis, or joining the trial in the hopes of having CVS (or in some cases having CVS outside the trial). The majority of women chose to have some test, and CVS was a more popular choice than amniocentesis.

Adult↗

Multiple endocrine neoplasia type 2a (MEN2a): a call for psycho-social research.

This paper summarizes what is known about the diagnosis, treatment, and follow-care of people with the inherited disorder multiple endocrine neoplasia type 2a (MEN2a). Several databases were searched throughout the year 2000, including MEDLINE, CINAHL, CancerLit, PsychINFO, and Dissertation Abstracts International. MEN2a is a complex disease involving cancer care and control by surgery, health maintenance, and life-long observation of gene mutation carriers. Genetic testing is the standard of care, prophylactic surgery is recommended during directive counseling, and life-long surveillance is encouraged for people with MEN2a. A substantial body of scientific literature describes morbidity and mortality outcomes of disease treatment, and the monitoring of multiple organ systems. Research is scant concerning the psychological consequences and social impact of the MEN2a diagnosis, treatment, and follow-up. Nearly all that is known from a psycho-social perspective comes from data in The Netherlands. Little is known of the psychological responses to and social consequences of genetic predisposition testing, prophylactic and curative surgery, and life-long surveillance. Psycho-social research is essential to provide comprehensive care for patients and family members with this disorder and it is necessary to guide the development of risk management strategies for patients with this inherited cancer syndrome. Since MEN2a has been labeled a prototype for medical genetics, information on MEN2a patient experiences may be relevant to the care of individuals with other inherited cancer syndromes.

Adaptation, Psychological↗

The Brazilian National Breastfeeding Program: a success story.

The Brazilian National Breastfeeding Program launched in 1981, is remarkable for its broad scope, including activities aimed at protecting (employment legislation, control of marketing of substitutes for mother's milk), promoting (use of the media, professional training), and supporting breastfeeding (mothers' groups, information material, and direct counseling). The program was preceded by an assessment in the metropolitan areas of Recife and São Paulo. Evaluation of the program carried out in 1987-1988 shows that it has had an impact; the average duration of breastfeeding increased from 89 to 127 days in São Paulo and from 66 to 104 days in Recife. Exclusive breastfeeding, which averaged 43 days in São Paulo, increased by 1.5 times; while in Recife the increase was 2.2 times, leading to 32 days.

Brazil↗

Care of the patient with severe pregnancy induced hypertension.

Pregnancy induced hypertension remains the largest cause of maternal death in the UK. This is often related to inadequate or incorrect care. Recent randomised studies have enabled evidenced based clinical practice to be directed to the management of this condition. This allows a logical stepwise management structure to be developed in each hospital to make sure all women at risk get the best care available. This starts with comprehensive antenatal care with close collaboration between all professionals involved, early referral to an outpatient daycare unit if hypertension develops or is suspected, early use of antihypertensive therapy to control blood pressure once the diastolic is persistently above 100 mmHg, the use of magnesium sulphate to control convulsions, delivery on the best day in the best way and careful fluid management after delivery. Postnatal care should also contain risk assessment to allow directed counseling to the women concerning subsequent pregnancies.

Anticonvulsants↗

Emotional well-being in spouses of patients with advanced heart failure.

BACKGROUND: The physical demands and psychological stressors of caregiving negatively impact the emotional well-being of spouses in many chronically ill populations such as patients with Alzheimer's disease and end-stage renal failure. Heart failure (HF) is a chronic illness with a poor prognosis that is increasing in prevalence and incidence, yet little is know about its effect on the family, particularly the spouse. OBJECTIVE: We conducted this study to describe the emotional well-being of spouses of patients with HF, to identify factors associated with spouses' decreased emotional well-being, and to compare emotional well-being between spouses with higher and lower levels of perceived control. We proposed a model that included age, sex, employment status, perceived control, and caregiver burden to explain the emotional well-being of spouses. METHODS: Data were collected from 69 spouses of patients with advanced HF (mean age 54 years and predominantly female) using 2 subscales of the SF-36, control attitudes scale-family version and caregiver appraisal tool. Descriptive statistics, Pearson correlations, and stepwise multiple regression were used to analyze data. RESULTS: The model explained 40% of the variance in the emotional well-being of spouses (P = 0.001). Perceived control (P = 0.001) and age (P = 0.046) were associated with emotional well-being. In spouses with higher levels of control, emotional well-being was significantly higher than in spouses with lower levels of control (P = 0.003). Older spouses had higher levels of emotional well-being compared with younger spouses (P = 0.01). CONCLUSIONS: Health care professionals must assess the level of control perceived by spouses of patients with advanced HF and provide information and counseling directed toward increasing their sense of control. Younger spouses are particularly at risk for decreased emotional well-being and may require special intervention.

Adult↗

Ethically justified clinically comprehensive guidelines for the management of the depressed pregnant patient.

OBJECTIVE: This article proposes ethically justified clinical guidelines for managing depressed patients during pregnancy. STUDY DESIGN: We reviewed literature on depression and its consequences for pregnancy and related that literature to ethical principles. RESULTS: The health effects of depression on the pregnant woman and her fetus cannot be managed without consideration of the chronic and variable impairment of autonomy that may result from the effects of depression on the pregnant woman's decision-making capacity. CONCLUSION: When the fetus is previable, recommendations concerning the disposition and prenatal diagnosis of the pregnancy should be nondirective, whereas strong treatment recommendations are justifiable if the pregnant woman has decided to continue her pregnancy and is severely depressed. After viability, directive counseling for fetal benefit is ethically justified. The guidelines focus on preventive ethics strategies to enhance the decision-making capacity of the depressed pregnant patient.

Beneficence↗

Family issues in working with chemically dependent adolescents.

The authors review research describing family dynamics in adolescent chemical abuse and dependency. Family systems theory is outlined, suggesting that family members, parents in particular, be included in accurate diagnosis and effective treatment. The pediatrician is viewed as having a relationship of trust with parents, being in a unique position to provide counsel, direction, and referral. Specific treatment strategies are recommended and illustrated with case studies.

Adolescent↗

Ethically justified, clinically comprehensive guidelines for percutaneous endoscopic gastrostomy tube placement.

Guidelines for the placement of percutaneous endoscopic gastrostomy (PEG) tubes are not available. We developed a decision-making algorithm by integrating the medical and ethical dimensions of the decision. According to our algorithm, physicians should not offer PEG tubes to patients with anorexia-cachexia syndromes. For patients with permanent vegetative states, physicians should offer and recommend against the procedure. For patients who have dysphagia without other deficits in quality of life, physicians should offer and recommend the procedure. For the the remaining patients who have dysphagia with other deficits in quality of life, the physician's role is to provide non-directive counselling regarding the short and long-term consequences of a trial of PEG tube feeding.

Algorithms↗

Ethics in obstetrics and gynecology. An overview.

This paper provides an overview of ethical issues in obstetrics and gynecology. We first define two basic ethical principles, beneficence and respect for autonomy. We first apply these principles to gynecologic practice, emphasizing the role of informed consent. We then apply these principles to obstetric practice, utilizing the concept of the fetus as a patient and identifying its clinical implications for directive versus non-directive counseling for fetal benefit.

Beneficence↗

Advanced oocyte cryopreservation will not undermine the practice of ethical egg sharing.

The fear that the ethics and practice of egg sharing will be undermined by the growing success of oocyte cryopreservation is not based on published evidence. Separate contracts and directed counselling of donors and recipients as required by law in the UK provide protection against potential pitfalls with egg sharing. The cost and waiting time for egg donation might even fall should oocyte cryopreservation become a practicable procedure.

Cryopreservation↗

Patient-practitioner agreement: does it matter?

BACKGROUND: Good communication is a crucial clinical skill. Previous research demonstrated better clinical outcomes when practitioners and patients agree about the nature of patients' core presenting complaints. We investigated the nature of this agreement and its impact on outcome among depressed primary care patients. METHOD: We compared presenting problem formulations completed by patients, GPs and therapists in a primary care randomized controlled trial of cognitive-behavioural therapy and non-directive counselling for depression. Participants compiled formulations from a list of 13 potential problems of self-completed questionnaires. Subjects scored at least 14 on the Beck Depression Inventory (BDI) at baseline. Outcome measure for this study included BDI at 4 and 12 months, failure to attend for therapy when referred, dropout from therapy and patient satisfaction. RESULTS: Among 464 trial patients, 395 received therapy. Patient baseline problem formulations included significantly more items than GPs, who identified significantly more items than therapists. Agreement levels varied according to a range of patient and professional variables. While patients in complete agreement with their therapists about their main problem after assessment had lower average BDI scores at 12 months (9.7 v. 12.8, P=0.03); we found no other significant associations between the extent of agreement and clinical outcome. There were significant (but relatively weak) associations between agreement and aspects of patient satisfaction. CONCLUSION: Our results suggest that detailed mutual understanding of the presenting complaints may be less important than agreement that the core problem is psychological, and that referral for psychological therapy is appropriate.

Adolescent↗