Clinical application of SNP array analysis in first‐trimester pregnancy loss: a prospective study

Chromosomal microarray analysis (CMA) has been used routinely in pediatric and prenatal genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis. In this study, we conducted a prospective study to evaluate the feasibility of CMA for genetic diagnosis of first‐trimester miscarriage specimens. We successfully analyzed 551 fresh miscarriage specimens using single‐nucleotide polymorphism (SNP) array. Among the specimens, 2.9% (16/551) had significant maternal cell contamination and were excluded from the study. Clinically significant chromosomal abnormalities were identified in 295 (55.1%) cases, including 214 (40%) with aneuploidy, 40 (7.5%) with polyploidy, 19 (3.6%) with partial aneuploidy, 12 (2.2%) with pathogenic microdeletion/microduplication, and 10 (1.9%) with uniparental isodisomy (isoUPD). Variants of uncertain significance were obtained in 15 cases (2.8%). Notably, isoUPD involving a single chromosome (chromosome 22) and two recurrent copy number variations, 22q11.2 microdeletion and 7q11.23 microdeletion, were identified as probably to be associated with miscarriage. The frequency and distribution of genetic aberrations in the spontaneous abortion group was not significantly different from those in the recurrent miscarriage group. Our study suggests SNP array is a reliable, robust, and high‐resolution technology for genetic diagnosis of miscarriage in clinical practice.     

The role of regular home practice in the relaxation treatment of tension headache

This study evaluated the contribution of regular home practice in the treatment of tension headache (HA) with progressive muscle relaxation (PMR) by giving 14 tension HA sufferers 10 sessions (over 8 weeks) of standard PMR with home practice and application instructions while 13 additional patients received the same PMR training (except for the omission of cue-controlled relaxation) with no home practice or application instruction. A third group of 6 patients merely monitored HA activity. Both treated groups showed significant reduction in HA activity, whereas the symptom monitoring group did not change. The 2 treated groups did not differ. On a measure of clinically significant reduction in HA activity (at least 50% reduction in HA activity), however, the group receiving home practice instruction (50%) showed a trend (p = .056) to improve more than did those receiving PMR without home practice (15%).     

General practitioners' attitudes to the development of midwifery group practices.

BACKGROUND: The report Changing childbirth (1993) has led to the development of midwifery-led schemes that aim to increase the continuity of maternity care. AIM: To determine the impact of midwifery group practices on the work of general practitioners (GPs) and their perceptions of midwifery group practice care. METHOD: Postal questionnaires were sent to 58 GPs referring women to the care of midwifery group practices (group-practice GPs), and a shorter questionnaire was sent to the remaining 67 GPs (non-group-practice GPs) within the same postcode area as a comparison group. In-depth interviews were conducted with 12 GPs. RESULTS: Questionnaires were returned by 71% of group-practice GPs and 81% of non-group practice GPs. One third of the group practice GPs felt that they were seeing group practice women too few times, and 50% thought midwives discouraged women from visiting their GP for antenatal checks. Over 80% of group practice GPs believed that midwives had the skills to detect deviation from the normal, and 66% would confidently refer women to their care. However, only 14% of group practice GPs believed that their own role was clear, while 64% agreed that communication with group practice midwives was poor, and concerns were expressed about the level of consultation before establishing schemes. Of the non-group practice GPs, 87% said they would consider referring women to the care of a midwifery group practice in the future. CONCLUSIONS: General practitioners were generally positive about the quality of care provided by midwifery group practices but identified issues that require addressing in developing this model of care.     

Comparison of American and European practices in the management of patients with primary immunodeficiencies

Primary immunodeficiency diseases (PIDs) comprise a heterogeneous group of rare disorders. This study was devised in order to compare management of these diseases in the northern hemisphere, given the variability of practice among clinicians in North America. The members of two international societies for clinical immunologists were asked about their management protocols in relation to their PID practice. An anonymous internet questionnaire, used previously for a survey of the American Academy of Allergy, Asthma and Immunology (AAAAI), was offered to all full members of the European Society for Immunodeficiency (ESID). The replies were analysed in three groups, according to the proportion of PID patients in the practice of each respondent; this resulted in two groups from North America and one from Europe. The 123 responses from ESID members (23·7%) were, in the majority, very similar to those of AAAAI respondents, with > 10% of their practice devoted to primary immunodeficiency. There were major differences between the responses of these two groups and those of the general AAAAI respondents whose clinical practice was composed of < 10% of PID patients. These differences included the routine use of intravenous immunoglobulin therapy (IVIg) for particular types of PIDs, initial levels of IVIg doses, dosing intervals, routine use of prophylactic antibiotics, perceptions of the usefulness of subcutaneous immunoglobulin therapy (SCIg) and of the risk to patients' health of policies adopted by health-care funders. Differences in practice were identified and are discussed in terms of methods of health-care provision, which suggest future studies for ensuring continuation of appropriate levels of immunoglobulin replacement therapies.     

Female genital mutilation: knowledge, attitude and practice among nurses

BACKGROUND: Female genital mutilation (FGM) and cutting is a subject of global interest, with many countries of the world still practicing it despite efforts by the WHO and other agencies to discourage the practice. The highest known prevalence is in Africa. OBJECTIVES: To determine the knowledge, attitude and practice of FGM among nurses in the ancient metropolis of Benin in a Nigerian state where FGM is illegal. RESULTS: One-hundred-ninety-three nurses in the study hospital were recruited in the study out of which 182 (94.3%) appropriately filled and returned the questionnaires. The average age of respondents was 37 years, and the average duration of postgraduation experience was 14.5 years. Most respondents are of Bini (36.8%) and Esan (34.1%) ethnic origin. All respondents identified at least one form of FGM, but only 12 respondents (6.6%) could correctly identify the four types of FGM. The harmful effects of FGM identified by the majority of respondents include hemorrhage, difficult labor/childbirth, genital tears, infections and scar/keloid formation. Forty-four (24.2%) of respondents were of the opinion that some forms of FGM are harmless. Eighty nurses admitted to having undergone FGM, for a prevalence of 44%. Five respondents (2.8%) view FGM as a good practice and will encourage the practice. Twelve respondents (6.6%) routinely perform FGM out of which seven (58.3%) viewed FGM as a bad practice. Nurses performing FGM routinely were those who had spent >20 years (59%) and 11-20 years (41%) in the profession. Another 26 (14.3%) had performed FGM before, though not on a routine basis. Of this latter group, 15 will perform FGM in the future when faced with certain circumstances. Reasons for FGM practice were mainly cultural. Eight of the respondents would have their daughters circumcised. CONCLUSION: Nurses perceive FGM in Benin as cultural. Almost half have had FGM themselves, and a small percentage recommend it to their daughters. Discouraging FGM practice will require culturally sensitive education of the healthcare providers and the population at large on the ill effects of FGM, including the risk to health and violations of human rights.     

Should performance indicators in general practice relate to whole practices or to individual doctors?

In a study of referrals to East Anglian hospitals 737 referrals in six specialties from three general practices were examined to see how accurately the hospital computer master index had identified the referring practice, the referring general practitioner and the doctor with whom the patient was registered. Although the practice was accurately identified by the hospital computer in 97% of referrals, the identification of the referring doctor and the patient's registered general practitioner were less reliable (72% and 49% respectively). It is concluded that at present the practice rather than the individual doctor may be the appropriate unit of analysis for studies of general practitioners' referral rates. This may be true for other performance indicators where information on a doctor's case mix and workload is not available. The results of this study emphasize that problems may arise if data relating to individual general practitioners are interpreted out of context of the practice and the way in which it is organized.     

Bone mineral density in relation to medical and lifestyle risk factors for osteoporosis in premenopausal, menopausal and postmenopausal women in general practice.

BACKGROUND. Interest in the prevention of osteoporosis is increasing and thus there is a need for an acceptable osteoporosis prevention programme in general practice. AIM. A study was undertaken to identify a cohort of middle-aged women attending a general practice who would be eligible for a longitudinal study looking at bone mineral density, osteoporosis and the effectiveness of hormone replacement therapy. This study aimed to describe the relationship between medical and lifestyle risk factors for osteoporosis and the initial bone density measurements in this group of women. METHOD. A health visitor administered a questionnaire to women aged between 48 and 52 years registered with a Belfast general practice. The main outcome measures were menopausal status, presence of medical and lifestyle risk factors and bone mineral density measurements. RESULTS. A total of 358 women our of 472 (76%) took part in the study which was conducted in 1991 and 1992. A highly significant difference was found between the mean bone mineral density of premenopausal, menopausal and postmenopausal women within the narrow study age range, postmenopausal women having the lowest bone mineral density. A significant relationship was found between body mass index and bone mineral density, a greater bone mineral density being found among women with a higher body mass index. Risk factors such as smoking and sedentary lifestyle were common (reported by approximately one third of respondents) but a poor relationship was found between these two and all the other risk factors and bone mineral density in this age group. CONCLUSION. Risk of osteoporosis cannot be identified by the presence of risk factors in women aged between 48 and 52 years. In terms of a current prevention strategy for general practice it would be better to take a population-based approach except for those women known to be at high risk of osteoporosis: women with early menopause or those who have had an oophorectomy.     

Frequency of ABO/Rhesus (D) blood groupings and ethnic distribution in the Greater‐Accra region of Ghana,towards effective blood bank inventory

Knowledge on blood group phenotypes is of key importance in clinical practice. It used in blood transfusion practice to determine the direction of recruitment of voluntary donors as required for each population within a country, and for disease association and population genetics studies. This study aimed at reporting the frequency of ABO and Rhesus (Rh) groups in the population of the Greater‐Accra region of Ghana and amongst their various ethnic groups. A retrospective study in 11 main hospitals within the region was done. Data collected provided information on the blood group status of persons (both blood donors and recipients) who visited the selected hospitals. Medical records used were within the years 2012–2017. A total of 42,317 (26,802 males and 15,515 females) data were retrieved and analysed. The frequencies of the blood groups O, A, B and AB were 50.0%, 24.3%, 20.7% and 5.0%, respectively. Rhesus‐positive to negative ratio was 93.2%/6.2%. Frequencies of blood group O was highest (49.1%–53.6%) in all ethnic groups. The second most dominant blood group was B (24.2%–25.4%) in the Ga‐Adamgbe, Akan and Ewe ethnic groups, whilst blood group A (25.0%–26.9%) was the second most dominant in the Northerners and non‐Ghanaians. Blood group distribution amongst gender and different age groups showed no significant differences but followed the same pattern for the general population. The study provides data on the ethnic distribution and frequency of ABO and Rhesus blood groupings in the Greater‐Accra region of Ghana. It also informs the need for blood banks in the region to increase the proportion of stockpiled Rhesus‐positive blood groups especially for O, B and A that may be high in demand.     

Radiological error--an early assessment of departmental radiology discrepancy meetings

This study reviews cases discussed at radiology departmental discrepancy meetings and retrospectively determines patterns of radiological error. All cases discussed since the inception of our departmental discrepancy meetings (20-month period) were reviewed. Discrepancies were classified according to the RADPEER score. The imaging method from which the discrepancy arose was recorded. An attendance log at all meetings was kept. 111 discrepancies were identified in 104 patients. 52 (46.85%) of the 111 discrepancies arose in relation to plain film radiography, 46 (41.44%) to CT, 11 (9.9%) to magnetic resonance imaging, and 2 (1.8%) to nuclear medicine examinations. Several repeating discrepancies were identified. Discrepancy Meetings facilitate collective learning from radiology discrepancies and thereby improve patient safety. They provide radiologists with the invaluable opportunity to reconsider current practice and when indicated to change and improve practice. The majority of discrepancies are due to false negative interpretation and occur primarily in plain film and CT reporting.     

One counsellor, two practices: report of a pilot scheme in Cambridgeshire.

BACKGROUND. Despite limited evidence of their effectiveness, counsellors are increasingly being employed as part of the primary health care team. Evaluation of counsellor services is therefore important. AIM. In 1990 the Cambridgeshire Family Health Services Authority initiated a pilot scheme to evaluate the role of counsellors in general practice and to help the authority determine its policy towards claims by general practitioners for reimbursement through the ancillary staff scheme. METHOD. Two group practices were identified and an external evaluator appointed. The evaluator and the general practitioners developed their aims and objectives for counselling in the general practice context, the number of counsellor hours per week and the type and process of referral. An experienced counsellor was appointed to work in both practices. Information was gathered over two years about doctors' reasons for referral, counsellor's initial assessment, patient outcome at the end of treatment, the patients' and practice teams' opinions about the counselling service, and patient outcome a year after counselling. RESULTS. A total of 293 patients were referred in the first two years of the scheme, of whom 75% were women. The main reasons for referral were that the general practitioners considered the patients to be suffering from anxiety/stress (33%), interpersonal difficulties (33%) and depression (20%). Almost all referrals (98%) were considered by the counsellor to be appropriate. The counsellor was able to provide an assessment for the 248 patients who attended and either take on the case for short-term counselling (69%) or suggest referral to a more appropriate service (25%) (6% withdrew). The expected maximum of six sessions of 45 minutes duration per referral was achieved in 87% of cases. The service was valued by patients and doctors. It coped effectively with a high proportion of patients with problems who did not reappear as demand elsewhere in the practice, and achieved a reduction in dose of psychotropic drugs among those seen. CONCLUSION. This study has shown the value of clarifying referral criteria and the intended role of the counsellor prior to the counsellor's introduction. This ensures effective use of a scarce resource and a high level of satisfaction among doctors and patients.     

Enhancing regular physical activity and relapse prevention through a 1-day therapeutic patient education workshop: A pilot study

OBJECTIVE: Physical activity (PA) is important for managing chronic diseases, such as diabetes and obesity. Yet over half of patients who adopt PA programs do not maintain them at 6 months. To encourage regular PA among our patients, we developed a 1-day outpatient motivational workshop based on well-known theoretical frameworks. The purpose of this pilot study was to evaluate the effectiveness of the motivational workshop in terms of total and activity-specific energy expenditures (EE) and body mass index (BMI). METHODS: This workshop is an integrative model of multiple theoretical frameworks for therapeutic education and behavior change, alternating individual sessions and group sessions in a multidisciplinary setting. Patients completed a validated, self-administered, quantitative PA frequency questionnaire at baseline and at 1 year. Stages of change and relapse risk were identified at baseline. RESULTS: Twenty-five subjects, mean age 48 years and BMI 34.1kg/m(2), completed pre-/post-evaluations. At baseline, 73% of subjects reported regular activities of daily living and 52% reported regular formal exercise. Using total and activity-specificEE, we identified 69.2% as sedentary. A relapse risk was recognized in 76%. Paired t-tests showed significant (P=0.048) reductions in weight and BMI and a significant (P=0.015) increase in high-intensity exerciseEE. Total EE showed no difference. Among baseline sedentary subjects, 39% became active. CONCLUSION: This workshop may be effective in modifying PA patterns, thereby decreasing sedentarism and fostering PA maintenance. PRACTICE IMPLICATIONS: The theory-based workshop for increasing motivation to maintain optimal PA behavior provides an example of translational intervention from theoretical models to clinical practice.     

Psychiatric morbidity in an Italian general practice

A two-stage screening strategy was applied in a single-handed general practice in northern Italy. The study was designed so that all the second-stage psychiatric interviews were conducted during the first phase of the study (group A patients), while self-report questionnaire (GHQ) and GP assessments only were collected during the second phase (group B patients). The estimated true case rate of psychiatric disorder (36%) did not differ between the two phases of the study, but there were marked differences in the general practitioner's diagnostic behaviour. During the first phase (when psychiatric interviews were being conducted in the practice), her behaviour was heavily biased towards diagnosing psychiatric disorder; 61% of the patients were regarded by her as psychiatric cases and the hidden psychiatric morbidity rate was only 9%. During the second phase of the study (no psychiatric interviews in the practice), only 37% of the patients were regarded as psychiatric cases by the GP, and the hidden morbidity rate was 59%. The results are interpreted as demonstrating that the presence of a psychiatrist conducting a two-stage screening survey in the practice had a profound effect on the diagnostic threshold. They also provide support for the use of the GHQ as a case-finding instrument in general practice.     

Survey of nonoccupational HIV postexposure prophylaxis in hospital emergency departments

BACKGROUND: Nonoccupational HIV postexposure prophylaxis (nPEP) is being used in community settings, but little is known about practice patterns. This study examined the status of nPEP in Massachusetts emergency departments (EDs), community sites where nPEP is most likely to be practiced. METHODS: In June 1998, a mailed survey was sent to identified medical directors of the 78 hospital EDs statewide; 66 (85%) responded. RESULTS: Overall, 52% reported having patient requests for nPEP within the prior year. 15% (10 of 66) had established written nPEP protocols; 33% (22 of 66) indicated their protocols were informal and not written. Twenty-five EDs could estimate the number of nPEP patients assessed; their mean estimate was 31 for the prior year (standard deviation [SD], 19.9) and 34% of the patients overall had nPEP recommended. Most (81%) of the hospitals with written or unwritten protocols recommended the use of three-drug antiretroviral regimens, which included two nucleoside analogues and a protease inhibitor; 41% approved more than one nPEP regimen. CONCLUSIONS: A demand for nPEP is occurring in hospital EDs. The diversity of practice patterns suggests the need for evidence-based practice guidelines.     

Thyroid autoimmunity and thyroid dysfunction in women with endometriosis

BACKGROUND: Women with endometriosis may have higher rates of autoimmune disorders, including hypothyroidism. The objective of this study was to compare the prevalence of thyroid dysfunction and autoimmune thyroid disease (AITD) between women with endometriosis and a control group. METHODS: This was a cross-sectional study carried out in 148 women with surgically confirmed endometriosis and 158 controls. The mean age of the study group was 34.6 (7.1 SD) years (range 21-42) and 32.1 (7.7 SD) years (range 18-44) for controls. Serum levels of thyroid-stimulating hormone, free thyroxine and the anti-thyroperoxidase and anti-thyroglobulin antibodies were evaluated. RESULTS: Thyroid disorders were identified in 20.9% of the endometriosis group and 26.5% of the control group (P = 0.25). The overall frequency of thyroid dysfunction was 12.2% and 10.8% for the endometriosis and control groups, and the frequency of positive thyroid antibodies, 14.9% and 22.2%, respectively (P = 0.20). Endometriosis stage and infertility history were not associated with thyroid dysfunction and AITD in the study group. CONCLUSIONS: The prevalence of thyroid dysfunction and AITD was similar in the two study groups. Screening for thyroid disturbances in women with endometriosis is not indicated.     

Preliminary results of a general practice based call system for cervical cancer screening in The Netherlands.

A study was undertaken in Nijmegen, in the Netherlands, to compare the attendance rate following a call system for cervical cancer screening organized by general practitioners, with the attendance rate resulting from the Dutch national call system. Women are invited for screening on a three yearly basis and in 1990 1616 women were identified by nine practices as being in the appropriate age group (35 to 54 years) to attend for cervical cancer screening while 10,387 women were identified by the national call system. The attendance rate among the 1101 women in the rural general practices was 58%, compared with 49% of 4154 women in the matched group receiving an invitation from the national call system. The attendance rate among the 515 women in the urban general practices was 55%, compared with 41% of 6233 women in the matched group receiving an invitation from the national call system. Invitations from general practitioners resulted in similar percentages of women in all age groups attending for screening. Four general practices sent a reminder letter or made a telephone call to non-attenders. A reminder increased the attendance rate from 58% to 70%. It is concluded that a general practice based call system for cervical screening produces a higher attendance rate than the national call system.     

Analysis of a general practitioner's work in a private nursing home for the elderly

A quantitative analysis was made over a fouryear period (1984-87) of the work and time involved for one rural general practitioner in caring for 42 elderly patients living in a private nursing home. The results were compared with those for the rest of the practice. The study showed that the consultation rate for nursing home patients was 50% higher than the rate for the remaining practice patients aged 65 years or over, and more than twice that for the whole practice. The prescribing rate in the nursing home was twice that of the 65+ years group and six times the rate for the whole practice. The hospital referral rate for nursing home patients was twice that of the 65-74 years group, and four times that for the whole practice. The time involved per year in looking after each nursing home patient was nearly twice that for the remaining practice patients aged 65-74 years, and three times that for practice patients aged under 65 years. From this study it would appear that concentrations of elderly patients in nursing homes in areas served by only a few general practitioners can cause considerable increases in workload. This could present problems in the organization of suitable care.     

Women with urinary incontinence: self-perceived worries and general practitioners'' knowledge of problem.

In the context of a large scale survey of health problems in women aged 50 to 65 years, a study was undertaken on the effects of incontinence on daily life. For this purpose 1442 women randomly selected from the practice files of 75 general practitioners in the eastern part of the Netherlands were interviewed at home (response rate 60%). In cases of moderate or severe incontinence the general practitioner of the woman concerned was asked whether this problem had been diagnosed in general practice. Incontinence was reported in 22.5% of the women. Overall, 77.8% of the women did not feel worried about it and 75.4% did not feel restricted in their activities; even for women with severe incontinence (daily frequency and needing protective pads) only 15.6% experienced much worry and 15.7% much restriction. About a third of the women with incontinence (32.0%) had been identified by their general practitioner. The greater the worries and restrictions owing to incontinence, the greater the chance that the incontinence was known to the general practitioner concerned. Only a small minority of the women who felt severely restricted were not identified by their general practitioner. There was a positive relation between recognized incontinence and a history of hysterectomy. This study contradicts the image of the incontinent woman as isolated and helpless; most women in this study seemed able to cope.     

Cancer survivors’ experiences,barriers and preferences with yoga: A cross-sectional survey to inform a yoga intervention

PurposeEvidence suggests that yoga may help improve cancer-related symptoms though knowledge of the experiences, barriers and preferences of people diagnosed with cancer is limited. This study sought to examine the use of yoga in an Australian sample and identify the experiences and preferences associated with undertaking yoga practice as formative research to help inform a future yoga intervention.MethodsAdults diagnosed with any type of cancer completed a cross-sectional survey including questions regarding their demographics, experiences and preferences for yoga practice.ResultsSixty-eight people who had been diagnosed with cancer completed the survey. Most of the participants (70.8%) had practiced yoga since their diagnosis. A variety of reasons for practice were endorsed, and benefits experienced included physical and psychological factors. The most common barrier to practice was related to the physical ability to undertake yoga. Participants indicated a preference for group classes (44.1%), with a frequency of practice of 2–3 times per week (60.3%), 60 min in length (75%). The preferred time of practice was 9am–12pm (51.5%) and travel distance 5–10 km (44.1%). Online yoga delivery was endorsed, with participants preferring pre-recorded sessions.ConclusionsResults from this study provide insights into the experiences, barriers and preferences for yoga practice in people with cancer which will assist in developing yoga programs in this cohort to investigate the effects on cancer and treatment-related symptoms.     

HBV infection in HIV-infected subjects in the state of Piauí, Northeast Brazil

In this study, the prevalence, genotype frequency, and risk factors for HBV infection in 768 HIV-infected subjects living in Piauí were determined. Forty-six (6.0 %) HIV-positive subjects were reactive for HBsAg and positive for HBV-DNA. Genotypes A (71.8 %), F (23.9 %) and D (4.3 %) were identified. Multivariate analysis revealed an association between HIV-HBV coinfection and male gender, older age groups, unprotected sex, reporting more than ten sexual partners throughout life, STD, and tattooing. This study shows the importance of monitoring sites and professionals who perform tattooing and practice safe sex to prevent the spread of HIV and HBV infections.