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PubMed1999

Adult depression in Alexandria, Egypt, 1998.

The objectives of this population based study were to quantify the prevalence of depression among adults in Alexandria, to identify some of its determinants as well as to reveal gender differences in its presentation. 300 adults were surveyed in their households (10 from each of 30 clusters of the governorate). The self administered Beck's inventory for usage in primary care settings was used for identifying the depression state. The prevalence rate was 11% with a non significant higher proportion among males. Mean age of depressed subjects was higher than the free Age interval with highest percentage of cases was 50-60 years Epidemiologic variables that were found to be significantly associated with a higher rate of the condition were being divorced or widowed, a positive recent history of stressful life events and having a positive personal history of psychological troubles. On the other hand, examined factors like financial state, working status and whether the person is a bread earner or dependent in the family had no association with the state of depression. Male cases were younger than female ones, they also had a higher mean score on the depression scale. The genders differed significantly in scores of psychopathological parameters related to hopelessness, low self esteem, loss of sexual interest, loss of pleasure, guilt, self reproach and suicidal ideation. The authors recommend active case finding for depression at the primary care level, instituting counseling services for marriage and family relations, intensifying mass media health education directed to mechanisms of coping with life stresses and restudying the gender differences in epidemiology of depression in a large scale community research.

Adaptation, Psychological↗

PubMed1990

Identification of carriers by screening for delta F508 deletion in a multi-generation cystic fibrosis family.

Samples from 30 members of a french cystic fibrosis (CF) family had to be typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene, to fulfill the expectations of twenty-two low-risk relatives who were asking for carrier testing. Classical linkage-disequilibrium data between KM-19 and XV-2c polymorphisms and the CF locus were not informative enough for some individuals, and other RFLPs had to be analyzed to determine which chromosomes carried the deficient gene in the family. We report the retrospective screening for delta F508 mutation in this extended family to illustrate the drastic improvements that the direct detection of the major mutation responsible for CF has on genetic counselling of relatives of patients with cystic fibrosis.

Blood Proteins↗

PubMed1982

The case-control study. A practical review for the clinician.

The retrospective case-control study is an important research strategy commonly encountered in the medical literature. A thoughtfully designed, carefully executed case-control study can be an invaluable source of clinical information, and physicians must often base important decisions about patient counseling and management on their interpretation of such studies. Unfortunately, the retrospective direction of case-control studies--looking "backwards" from an outcome event to an antecedent exposure--is accompanied by numerous methodological hazards. Careful attention must be paid to selection of appropriate study groups; definition and detection of the outcome event; definition and ascertainment of the exposure; assurance that the compared groups were equally susceptible to the outcome event at baseline; and careful statistical analysis. If systematic bias enters the research at any of these points, erroneous conclusions can result. Greater familiarity with the case-control method should enable clinicians to be more critically insightful when interpreting the results of published studies using this design format.

Clinical Trials as Topic↗

PubMed1993

Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications.

X-linked hypohidrotic (anhidrotic) ectodermal dysplasia (EDA) results in abnormal morphogenesis of the teeth, hair, and eccrine sweat glands. The disorder is inherited as an X-linked recessive trait with significant morbidity and mortality in affected males, but with little to no clinical expression in many carrier females. Therefore, despite much effort, carrier detection based on clinical findings has been problematic. The locus for the disorder has now been localized to a region of less than one million base pairs on the X-chromosome, permitting DNA based carrier, prenatal, and early neonatal testing for many families. The isolation and sequencing of the EDA gene itself should be forthcoming by the application of the techniques of positional cloning. The isolation of the gene will allow direct mutation detection in even sporadic cases, and will further improve genetic counseling. It will also permit analysis of how the gene functions in the normal development of the epidermal and oral ectoderm, which may result in improved therapies for the disorder.

Chromosome Mapping↗

PubMedDate not supplied

What do Dublin GPs expect from a psychiatric referral?

The advent of community psychiatry has tended to blur the interface between primary and secondary psychiatric care. We used a postal questionnaire to investigate each new referral from general practice to the public outpatient clinics of three West Dublin Psychiatric Sectors. 70 referrals, from 35 general practitioners, over a four month period in 1991 were analysed, regarding reason for referral and prior management in general practice. On average patients had seen their GP six times over a period of ten months. Mixed anxiety/depression was the most common diagnosis (23%). Medication had been prescribed for 61% of patients and 67% had counselling before referral. Common reasons for referral were: Access to therapies not available directly to the GP (30%); Failure of treatment (20%); To share the burden of chronic care (14%). In only 13% of referrals did the GP wish the psychiatrist to take over care. We conclude that the GPs surveyed undertake extensive pre-referral management of patients with psychological illness. They have well defined expectations of referral and are keen to follow up patients themselves. Future plans for community psychiatric services should take account of this pattern of care.

Affective Symptoms↗

PubMed1990

Career counseling practices in pediatric residency training programs.

Although there has been an emphasis on career satisfaction in pediatrics and on motivators that impact on resident career selection, little attention has been directed toward the career development process in pediatric residency training. This report summarizes the results of a survey conducted of 155 pediatric residency program directors about their counseling practices. Implications of the results and recommendations are discussed to improve this process.

Career Choice↗

PubMed1997

Integration of a sexuality counseling service into a reproductive health program for persons with mental retardation.

A socialization and sexuality counseling program was instituted as an integral part of a gynecologic service begun at the University of Michigan for persons with mental retardation. One hundred three patients were seen between 1986 and 1989 for counseling. Patients were referred for a variety of reasons, the most common being sexual behavior deemed inappropriate by the referring agent (i.e., direct care givers, parents, teachers, workshop supervisors, and other community professionals). Other concerns included sexual abuse, sterilization requests, sexuality and socialization education, marital questions, pregnancy assistance, abortion counseling, and family stress. Treatment techniques included gynecologic examination and follow-up, psychosexual education, psychiatric evaluation and follow-up, and group and individual psychosexual counseling. A majority of the patients improved during treatment. It is proposed that such a counseling program can play a useful role in the preparation of people with mental retardation to live in their communities as they deal with day-to-day decision making and should be an integral part of reproductive health care for this population.

Adolescent↗

PubMed2001

Factors influencing patients' decisions to decline cancer genetic counseling services.

Little is known about the factors influencing patients' decisions about whether to utilize cancer genetic counseling services. The purpose of this study is to identify potential barriers to broad utilization of such services. Of a total of 136 decliners of cancer genetic counseling services at our institution, 117 were deemed eligible to participate. Of these, 73 were randomly selected for study. A total of 37/73 (51%) agreed to participate in a semistructured telephone survey designed to assess the factors that impacted their decisions to decline cancer genetic counseling. An interview script, composed of both closed- and open-ended questions was used to direct the survey. Interviews were audiotaped. Responses to open-ended questions were content analyzed. Of the participants, 34 were female and 36 were Caucasian. Seventy-two percent of the participants were between ages 36 and 55 years. Participants cited the following reasons for choosing not to proceed with cancer genetic counseling: concern over health insurability for self or family (n=15); cost (n=12); emotional impact on self or family (n=11); no perceived benefit (n=11); and time commitment (n=9). These data provide an understanding of patient's attitudes and concern impacting their decisions to decline cancer genetic counseling. This information provides guidance for the development of interventions designed to limit barriers among patients referred for such services.

Attitude of Health Personnel↗

PubMed1992

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis.

Loss of function of both copies of the RB1 gene is a causal event in the development of retinoblastoma. The predisposition to this tumor can be inherited as an autosomal dominant trait. Direct detection of the genetic defect is important for presymptomatic DNA diagnosis and genetic counseling in families with hereditary retinoblastoma. We have used multiplex polymerase chain reaction and high-resolution polyacrylamide gel electrophoresis to detect RB1 gene deletions as small as one base pair. By using three independent sets of amplification reactions, which cover 26% of the RB1 gene coding region, we identified RB1 gene deletions in the DNA of peripheral blood cells in 3 out of 24 (12.5%) unrelated patients with hereditary retinoblastoma. In one case, formalin-fixed paraffin-embedded tumor material was also used to detect the mutation. Sequencing of the mutated alleles revealed deletions of 1, 3 and 10 base pairs. Each deleted region was flanked by direct repeats.

Amino Acid Sequence↗

PubMedDate not supplied

More is better: counseling participation and the effectiveness of outpatient drug treatment.

Counseling is a cornerstone of virtually all drug treatment modalities, yet there is relatively little research examining counseling effectiveness. This article addresses a simple question concerning counseling: Is more frequent participation in counseling associated with better treatment outcomes? Findings from an evaluation of the Los Angeles Target Cities Project indicate that monthly counseling frequency varied substantially for participants of outpatient programs, and more frequent counseling was associated with lower levels of relapse to drug use, even for individuals who successfully completed the treatment program. The association between counseling frequency and relapse did not attend to all types of counseling, however, but mainly to group and individual counseling. More frequent attendance of family counseling and 12-step meetings during the outpatient treatment phase did not significantly lower the probability of relapse. Frequent participants of group and individual counseling who continued to be frequent participants of 12-step meetings during the posttreatment period had the lowest probability of relapse. The policy implications of the findings and directions for further research are discussed.

Adolescent↗

PubMed1989

A psychoeducational approach to methadone maintenance treatment.

Methadone maintenance has become the treatment of choice for heroin addiction because of its beneficial effects on illicit opiate use and criminality. Yet methadone maintenance falls short in a variety of ways; methadone clients continue to use drugs, experience high rates of psychopathology and alcoholism, and fail to become employed and integrated into the community. These problems are endemic in addicts, but also can be attributed to a host of strategic and tactical failures in methadone maintenance treatment itself. Traditional counseling is an inadequate and confused way to provide clients with the living skills, psychotherapy, and limit setting they need. S.T.A.R. is a methadone program in Portland, Oregon, that emphasizes direct training of educational, recreational, and personal skills. Group treatment is employed to create social support for clients while psychotherapy and crisis counseling are available on an as-needed basis. Implementation of the model has caused some difficulties and has led to creative and promising results.

Activities of Daily Living↗

PubMed1996

Prevention advice rates of women and men physicians.

BACKGROUND: As the number of women in medicine and the emphasis on prevention and primary care increase in the United States, it is important to know the extent to which female and male physicians advise patients about prevention. It is also important to know whether any gender-based differences are attributable to women's higher rates of choosing primary care specialties. Prior studies have examined only small populations of physicians, limited physician specialties, or few prevention-related outcomes. METHODS: Telephone survey from a systematic random sample of the Physician Masterfile maintained by the American Medical Association. One thousand US physicians (167 women and 833 men); a 48% response rate. Self-reported frequency with which physicians review patients' health behaviors and initiate counseling about unhealthy behaviors. RESULTS: Of the surveyed physicians, 44% stated that they always reviewed the patient health behaviors in question, and 36% usually systematically counseled patients when unhealthy behaviors were known. Female physicians were significantly more likely than were male physicians to report systematic counseling about unhealthy behaviors (52% vs 37.8%, P < .001, chi 2). We also analyzed our data by adjusting for age and including only family and general physicians and internists. After these adjustments, gender-based differences remained in the direction of female physicians being more likely than male physicians to report reviewing patients' health practices and providing systematic counseling, although these differences no longer reached statistical significance. Gender-related differences were greatest for more sensitive behaviors (ie, drug use and sexual behaviors). Primary care physicians were more likely than other physicians to review and counsel patients about health behaviors. This specialty-based difference was more significant among male than among female physicians. CONCLUSIONS: In this random sample, although all physicians counseled patients inconsistently about prevention, female physicians reported systematically counseling patients more than did male physicians, and primary care physicians reviewed and counseled more often than did physicians in other specialties.

Adult↗

PubMedDate not supplied

Impact of patient counseling on acceptance of the levonorgestrel implant contraceptive in the United Kingdom.

Patient counseling is an important aspect of family planning. Patient choice, compliance, and satisfaction with a contraceptive method depend heavily on the counseling experience. This is especially true in the United Kingdom where contraceptives are provided to patients at no direct cost to them. Women are therefore more likely to choose a contraceptive option based on perceived desirability as opposed to cost. We surveyed physicians from six family planning centers in the United Kingdom who have extensive experience with levonorgestrel contraceptive implants with respect to counseling issues and patient acceptability of levonorgestrel implants. The physicians reported on their experience with 521 women. They acknowledged the need for and importance of counseling, and these centers provided preinsertion counseling 100% of the time. Primary responsibility for counseling was handled by the physician who spent, on average, 19 minutes per patient discussing the advantages and risks of levonorgestrel implants. Physicians felt that the majority of women (82%) accepting levonorgestrel implants had a positive experience. The incidence of bleeding irregularities was consistent with that reported in clinical trials, and this did not substantially affect the postinsertion acceptability of the product. Effective counseling is no doubt responsible for the high level of patient acceptance of these side effects. In a review of the literature, we found counseling to be a significant factor in a woman's tolerance of contraceptive-induced bleeding irregularities, which are frequently experienced with levonorgestrel implants. The results of our survey support the literature findings.

Adolescent↗

PubMed2000

Termination of life support after major trauma.

As the population continues to age, greater numbers and more severely injured elderly patients require care in ICUs. With the attendant increase in the medical complexity of such patients, investigators anticipate that trauma and critical care resources will become increasingly stretched. Because of economic and societal forces, it will become increasingly important for trauma surgeons to appropriately counsel patients and their families regarding the outcome from their injuries and to become comfortable approaching families about withdrawal of support when medical futility is recognized. The authors propose the following guidelines for discussing limitation or termination of life support with patients and their families. Physicians should (1) discuss the patient's wishes regarding life support on admission or early in the hospital course; (2) at the initial discussion, establish who the decision maker will be if the patient is or becomes incapacitated; (3) maintain regular communication and continuity of care; and (4) inevitably, when conflict occurs, involve consultants and a hospital ethics committee for assistance in its resolution.

Advance Directives↗

PubMed1991

Routine prenatal screening for HIV infection.

Guidelines in most developed countries for testing pregnant women for HIV infection recommend that screening should be directed to groups with acknowledged risk factors for infection. Our prospective study of HIV seroprevalence among 2724 pregnant women in an inner-city area of Baltimore, USA, showed that if these guidelines had been applied only 57% of HIV-seropositive women would have been detected. By offering counselling and HIV testing to all pregnant women, the detection rate was raised to 87%. We conclude that screening directed at women who admit risk factors is not effective in identifying HIV-infected women and that routine HIV screening should be offered to all pregnant women.

Adult↗

PubMed2004

Monthly antibiotic chemoprophylaxis and incidence of sexually transmitted infections and HIV-1 infection in Kenyan sex workers: a randomized controlled trial.

CONTEXT: Sexually transmitted infections (STIs) are common in female sex workers (FSWs) and may enhance susceptibility to infection with human immunodeficiency virus type 1 (HIV-1). OBJECTIVE: To examine regular antibiotic prophylaxis in FSWs as a strategy for reducing the incidence of bacterial STIs and HIV-1. DESIGN, SETTING, AND PARTICIPANTS: Randomized, double-blind, placebo-controlled trial conducted between 1998-2002 among FSWs in an urban slum area of Nairobi, Kenya. Of 890 FSWs screened, 466 who were seronegative for HIV-1 infection were enrolled and randomly assigned to receive azithromycin (n = 230) or placebo (n = 236). Groups were well matched at baseline for sexual risk taking and STI rates. INTERVENTION: Monthly oral administration of 1 g of azithromycin or identical placebo, as directly observed therapy. All participants were provided with free condoms, risk-reduction counseling, and STI case management. MAIN OUTCOME MEASURES: The primary study end point was incidence of HIV-1 infection. Secondary end points were the incidence of STIs due to Neisseria gonorrhoeae, Chlamydia trachomatis, Trichomonas vaginalis, Treponema pallidum, and Haemophilus ducreyi, as well as bacterial vaginosis. Analysis of herpes simplex virus type 2 (HSV-2) infection was performed post hoc. RESULTS: Seventy-three percent of participants (n = 341) were followed up for 2 or more years or until they reached an administrative trial end point. Incidence of HIV-1 did not differ between treatment and placebo groups (4% [19 cases per 473 person-years of follow-up] vs 3.2% [16 cases per 495 person-years of follow-up] rate ratio [RR], 1.2; 95% CI, 0.6-2.5). Incident HIV-1 infection was associated with preceding infection with N gonorrhoeae (rate ratio [RR], 4.9; 95% CI, 1.7-14.3) or C trachomatis (RR, 3.0; 95% CI, 1.1-8.9). There was a reduced incidence in the treatment group of infection with N gonorrhoeae (RR, 0.46; 95% CI, 0.31-0.68), C trachomatis (RR, 0.38; 95% CI, 0.26-0.57), and T vaginalis (RR, 0.56; 95% CI, 0.40-0.78). The seroprevalence of HSV-2 infection at enrollment was 72.7%, and HSV-2 infection at baseline was independently associated with HIV-1 acquisition (RR, 6.3; 95% CI, 1.5-27.1). CONCLUSIONS: Despite an association between bacterial STIs and acquisition of HIV-1 infection, the addition of monthly azithromycin prophylaxis to established HIV-1 risk reduction strategies substantially reduced the incidence of STIs but did not reduce the incidence of HIV-1. Prevalent HSV-2 infection may have been an important cofactor in acquisition of HIV-1.

Adult↗

PubMed1993

Molecular genetic advances in fragile X syndrome.

The fragile X syndrome is recognized as the most common heritable condition resulting in mental retardation. The disabilities are substantial, and therefore early detection is mandatory to assist with reproductive counseling of families in which the fragile X syndrome has occurred. Highly accurate, direct DNA diagnostic testing can now be performed to diagnose the fragile X syndrome without the involvement of individual family members, as was the situation with the use of DNA linkage analysis. Such testing is rapidly becoming a standard diagnostic tool for screening of individuals with suspected fragile X syndrome, of potential unaffected carriers, and of patients with undefined mental retardation. Fragile X testing should be considered for all children with developmental delay of unknown cause. Autistic children will occasionally be found to have mutations in FMR-1. Detection of affected individuals will allow early intervention for these individuals and will assist families with their reproductive decisions (including prevention) in subsequent offspring. An understanding of the molecular genetics of fragile X syndrome has resulted in the resolution of the Sherman paradox and is the first molecular characterization of a chromosomal fragile site, a finding that almost certainly will be important in understanding the cause of chromosomal rearrangements involving fragile sites. In addition, molecular details of the fragile X mutations have yielded insight into "heritable unstable elements," of which the fragile X chromosome is one of the first characterized examples. Thus a similar molecular mechanism involving a trinucleotide repeat may explain the genetics of myotonic dystrophy and spinal-bulbar muscular atrophy (Kennedy disease); it seems reasonable to assume that other genetic diseases also may result from disruption of genes by inherited unstable elements.

DNA↗

PubMed2001

Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

In the past few years, great progress has been made in the understanding of macular diseases. A number of disease-causing genes have been cloned, and numerous loci for other conditions have been mapped. The purpose of this article is to provide an overview of the current understanding of the genotype-phenotype correlations in autosomal dominant macular diseases with an emphasis on differential diagnostic issues. Whenever possible, the molecular correlates have been reviewed and the implications for age-related macular degeneration have been discussed. The many similarities of these diseases to age-related macular degeneration of the atrophic or exudative type, which can be misleading in elderly subjects, have also been addressed. While some conditions yield disease truly confined to the macula, others show widespread retinal involvement on functional testing. Clear-cut genotype-phenotype correlations are possible only for some forms of macular diseases. To further complicate the diagnostic process, there is a considerable degree of clinical overlap between many of them, making the differential diagnostic process potentially challenging. Functional testing, careful assessment of family history and extensive family work-up are essential in differentiating at the clinical level most, but not all, of these disease entities. Awareness of all of these conditions is required to direct correctly diagnostic investigations, to formulate an accurate prognosis, and for proper genetic counseling.

Amino Acid Sequence↗