Prevalence of beta-thalassaemia and sickle cell traits in premarital screening in Al-Qassim, Saudi Arabia

To study the prevalence of beta-thalassaemia and sickle cell traits in the Al-Qassim region, Saudi Arabia. The Ministry of Health of Saudi Arabia launched a countrywide programme in February 2004 to allow all Saudis planning marriage to screen their carrier status for beta-thalassaemia and sickle cell traits. This population survey of mandatory premarital screening for beta-thalassaemia and sickle cell heterozygotes provided an opportunity to estimate the prevalence of these traits in the Al-Qassim region. From February 2004 to October 2006 all individuals attending for premarital screening in that region were screened. For each subject, venous blood was taken to determine complete blood count, red cell indices and hemoglobin electrophoresis. Subjects were considered to have beta-thalassaemia trait if mean corpuscular volume was <79 fl, mean corpuscular haemoglobin <27 pg and haemoglobin A2 level >3.5%; and sickle cell trait if sickle cell haemoglobin amounted to 35 to 45% and sickling test was positive. Totally 38,153 individuals were screened during the study period. The prevalence rates of beta-thalassaemia and sickle cell traits were 0.165% (63/38,153) and 0.252% (96/38,153) respectively. Compared with results of previous studies carried out in this region on the same issue, the prevalence of sickle cell heterozygotes seems to be the same but the frequency of beta-thalassaemia carriers is substantially higher. Screening for carriers both of beta-thalassaemia and sickle cell traits is important to prevent at risk marriages through genetic counseling.     

The health orientation scale: A measure of feelings about sickle cell trait

Abstract

The Health Orientation Scale (HOS), a written self‐report instrument, was developed to objectively appraise the psychological implications of identification as a sickle cell gene carrier (AS). The HOS uses the semantic differential technique and consists, of nine situations thought to be of importance in identification as a carrier. The instrument was completed by respondents during the various phases of the screening and counseling process. Discussion will focus on a comparison of carrier and noncarrier (AA) reactions to situations which involve the diagnoses of sickle cell trait (AS), sickle cell disease (SS), cancer, and hypertension along with a comparison of feelings before and after counseling. Results suggest that noncarriers have more negative feelings about sickle cell than carriers. Further, counseling, as it is currently practiced, does not contribute to any significant differences in feelings about sickle cell for either carriers or noncarriers. The attitudes and feelings of noncarriers toward sickle cell trait and disease suggest that carrier identification is a stigma.     

Deliberate self-harm in substance-dependent patients and relationship with alexithymia and personality disorders: a case-control study

The aim of this study Is to evaluate differences in the prevalence of deliberate self-harm (DSH), alexithymia, and clinical personality patterns and syndromes between treatment-seeking substance-dependents and a comparison group, and to investigate the relationship of DSH with alexithymia, and personality disorders. One hundred and fifty-four subjects participated in the study (77 substance-dependent inpatients and 77 comparison group). DSM-IV diagnoses of substance dependence were made by the clinicians of the Addiction Services following assessment that included clinical observation. Participants were evaluated by the Deliberate Self Harm Inventory, Toronto Alexithymia Scale, and Millon Clinical Multiaxial Inventory. An Identifying Information Form was used to collect demographic information (e.g. age, educational history, marital status, and employment status). Only to the clinical sample information was added on: types of substance used, age at first substance use, age at regular substance use, and previous treatment attempts. Significant group differences were found for all measures (DSH, TAS-20, MCMI-III). Among substance-dependent patients there was a significant difference between groups with and without DSH in terms of previous treatment attempts, Hypomania and Borderline personality disorder. DSH were significantly correlated with difficulty in identifying feelings in all cases in both the comparison group and in the personality disorders group, and with difficulty describing feelings in the personality disorders group. Personality disorder and drug dependency were predictors for DSH. This study suggests that treatment of substance-dependents should involve screening for deliberate self-harm behavior, difficulty identifying and describing feelings, and personality disorders. Probably, when these problems are detected, specific psychological intervention should be integrated to usual treatment for substance-dependent patients.     

Compliance with diphtheria,tetanus, and pertussis immunisation in Bangladesh: factors identifying high risk groups.

OBJECTIVE--To evaluate factors associated with non-compliance with having second vaccination against diphtheria, tetanus, and pertussis in a treatment centre in Dhaka to determine which children were most at risk of not completing immunisation. DESIGN--Cohort study of infants given first dose of the vaccine and followed up six weeks later to ascertain compliance with having second dose. Factors associated with non-compliance were evaluated. SETTING--Dhaka treatment centre of the International Centre for Diarrhoeal Disease Research, Bangladesh. SUBJECTS--136 unimmunised children aged 6 weeks to 23 months who lived within reach of the treatment centre. At time of the six week follow up 16 of the children could not be traced and seven had died. INTERVENTIONS--All children received their first dose of the vaccine. In each case health education workers had informed the mother about the value of immunisation, and she was given clear instructions to bring the child back after four weeks for the second dose. MAIN OUTCOME MEASURE--Rate of non-compliance with advice to return child for second vaccination. RESULTS--46 of 113 children (41%) received the second dose of the vaccine. Factors most closely associated with mothers'' failure to comply with the second dose were lack of education and low income. Children whose mothers knew most about immunisation at first interview were more likely to have their second dose. CONCLUSIONS--Preventive health care services such as immunisation are appropriately offered in treatment centres, but compliance among children varies with socioeconomic status and mother''s education. Further research should be aimed at ways to make health education more effective among uneducated parents.     

Types of meningococci isolated from carriers and patients in a non-epidemic period in the netherlands

In a non-epidemic period the carrier rate of meningococci among 60 members of the laboratory staff during a long-term observation period of 1.5 years was 38%.In a children's home only a few children were carriers. The meningococci practically did not spread.In 161 recruits observed for periods of at most eight weeks the percentage of positives was 39.1 on the day of joining up and reached its maximum of 80.1 in the course of the period of observation.Among the strains isolated from patients and from carriers, type B predominated. In patients, type C was second in frequency; in carriers, type Y. Type A was found very rarely in carriers and somewhat more frequently in patients.The high carrier rate of type B in adults, together with its low aggressiveness for persons older than ten, may explain the relatively high frequency of the disease in the younger age groups.     

CFTR mutations and reproductive outcomes in a population isolate

Multiple hypotheses have been proposed to explain the high incidence of cystic fibrosis in Caucasian populations. Most rely on a fitness advantage to carriers of CF mutations, either through increased resistance to infectious disease, such as cholera, or through increased fertility. In this study we tested the latter hypothesis in the Hutterites of South Dakota, a genetic isolate with a relatively high CF carrier frequency. Following a population-wide screen for the only two mutations present in the Hutterites (M1101K, ΔF508), we tested for associations between carrier status and measures of fertility. There was no evidence of nonrandom transmission of mutations (P = 0.409) or skewed sex ratios (P = 0.847) in children of carrier parents. Moreover, carrier status was not associated with overall fertility (P = 0.597 for carrier fathers and 0.694 for carrier mothers). Although carrier males’ sibship sizes were larger than carrier females’ sibship sizes (P = 0.049), this was not significant after accounting for multiple testing. Overall, our results suggest that if there is a fertility advantage among CF carriers, it is too small to be detected in our sample (85 carriers out of ∼950 screened), or the effects are confined to ΔF508 carriers, for which there are too few in our sample to test this specific hypothesis.     

Cystic fibrosis carrier testing in early pregnancy by general practitioners.

OBJECTIVE--To assess the feasibility of genetic counselling in general practice by using cystic fibrosis carrier screening at the booking appointment as an integral part of routine antenatal care and as a paradigm for the wider participation of general practitioners in medical genetics. DESIGN--Maternal testing (male partner tested only if woman screens positive) and couple testing for cystic fibrosis carrier status in the antenatal population attending one general practice and, later, in a further six (outreach) practices also. SETTING--Two partner urban training practice (pilot practice) in south Manchester, and six north west practices (two inner city, three urban, one rural dispensing). SUBJECTS--Total practice population of 50,000 (pilot practice plus six outreach practices) with an estimated 500-800 pregnancies per year. MAIN OUTCOME MEASURES--(a) Proportion of carriers of cystic fibrosis identified, counselled, and appropriately managed within the first trimester of pregnancy; (b) questionnaire and interview measures of patient satisfaction and stress. RESULTS--Eleven carriers of cystic fibrosis were detected including one carrier couple. This carrier couple, after extensive counselling, elected to have prenatal diagnosis by chorionic villus biopsy. The fetus was homozygous normal. CONCLUSIONS--General practitioners can successfully integrate genetic counselling and cystic fibrosis carrier screening into the first antenatal booking appointment. When a carrier couple is identified clinical geneticists can help with the discussion of reproductive options, and prenatal diagnosis by chorionic villus biopsy can be completed within the first trimester. The results suggest that general practitioners will have an increasingly important role in medical genetics, subject to continuing evaluation of patient acceptability and stress.     

The Use and Transfer of Information About Predation Risk in Flocks of Wintering Finches

Several studies in behavior have focused in some way on how groups of prey gather and use information about predation risk. Although asymmetries in information about risk exist among members of real groups, we know little about how such uneven information might affect individual or group antipredator decisions. Hence, we studied the use and transfer of information about the risk of predation in small flocks of wintering birds. House finches (Carpodacus mexicanus; 28 groups of three) were held in large enclosures divided into safe and risky patches. We controlled the information about risk available to each individual by conducting attacks with a model hawk that was visible to only a single (informed) bird. Repeated attacks on a single individual did not reduce the amount of feeding by other birds in that patch, although the time to resume feeding after observing a response to an attack event was somewhat longer than after a no attack event. These results suggest that informed individuals impart some information to naïve (uninformed) birds, but this effect was not strong. In fact, the frequent return of informed individuals to feeders after observing uninformed individuals feed suggests that finches relied more on public information regarding safety than their own personal information in deciding when to feed. Group patch choice appeared to be based on a majority‐rules decision, although an effect of dominance status was apparent. Our results suggest that subordinate flock members may exert a large influence over group decision‐making by acting as spatial ‘anchors’.     

The Effect of Infant Body Mass on Carrier Travel Speed in Cotton-top Tamarins (Saguinus oedipus)

Infant carrying is common in primates and may be the second most costly activity related to reproduction, after lactation. In cooperative breeding groups of callitrichids, all group members carry and care for twin infants. Previous studies have described the costs of infant carrying in terms of body mass loss and reduced locomotor capability. However, infant carrying may also influence travel speed, an important potential cost because slower speed may handicap foraging, energetic budgets, and predator avoidance. We evaluated the impact of infant carrying on the travel speed of 27 adult and 9 subadult cotton-top tamarins (Saguinus oedipus) of both sexes in large outdoor enclosures. We compared carrier speed to speed when not carrying during the 10 weeks after nine births. Subadult tamarins, which have a lower body mass than adults do, moved faster than adults when not carrying. We found no difference between the mean speeds of subadults and adults while carrying. However, the speed of carriers decreased as infant mass increased, and the slope of this negative relationship was more pronounced in subadult carriers. For every 80 g of extra mass load (the body mass of newborn twins), adults reduced their speed by 6 % and subadults by 19 % relative to noncarrying speed. We also observed a reduction in speed while carrying two infants in adult tamarins as carrying time increased. Our results contribute to an understanding of the costs of infant carrying, and serve to emphasize the importance of cooperative breeding systems in coping with these costs.     

Large-scale survey of hepatitis B virus infection in families

To investigate HBV transmission in families on three islands in Okinawa, Japan, prevalence of HBV markers in two groups of inhabitants was determined. One group consisted of members of families in which there was at least one HBsAg carrier (carrier families); the other group consisted of members of families in which there were no HBsAg carriers (non-carrier families). A total of 3,261 serum samples were collected from subjects on Iriomote Island, Hateruma Island, and Yonaguni Island. These samples were tested for HBsAg by reversed passive hemagglutination (RPHA) and for antibody to hepatitis B core antigen (anti-HBc) by radioimmunoassay. Overall prevalences of HBsAg and anti-HBc were 8.2 and 65.8 per cent respectively. The prevalence of anti-HBC among members of carrier families (80.8%) was significantly higher than that among members of non-carrier families (61.6%) (P less than 0.001). The prevalence of anti-HBc among members of carrier families was higher in all age groups, and was particularly so in children. Within carrier families, the prevalence of anti-HBc was significantly higher in families in which there was at least one HBsAg carrier with HBeAg (94.5%) than in families with no HBeAg-positive carriers (76.1%). This difference was especially marked in young children. These data suggest that in families with HBsAg carrier(s), the risk of transmitting HBV to members, particularly to young children, is higher than in families without carriers, and that the risk is further increased in families with HBeAg-positive carrier(s).     

海军两栖侦察队女队员海练前后内分泌性激素变化及月经失调影响因素分析

目的：通过监测海军陆战旅两栖侦察队女队员海练前后内分泌性激素的变化,观察海练对女性生理功能的影响。方法：海军陆战队某旅两栖侦察队女队员30名,按侦察兵训练大纲的标准于每年6～7月进行海练,每天训练7h,共60d。于海练前1d、海练后1d和海练后第90d抽血,采用微粒子酶联免疫法测定其血清促卵泡生成素、促黄体生成素、雌二醇、孕酮、泌乳素和睾酮的水平;通过问卷调查了解女陆战队员身高、体重、月经周期变化和营养等状况,并进行健康宣教和心理干预。结果：女队员海练后1d较海练前1d内分泌性激素水平显著降低,差异具有统计学意义（P〈0．05）;海练后1d,女队员月经失调的情况明显增多（P〈0．05）;海练后第90d内分泌性激素水平较海练后1d显著升高,差异具有统计学意义（P〈0．05）;海练后第90d,女队员月经失调的情况显著改善（P〈0．05）。结论：在高温高湿环境下长途奔袭、渡海、抢滩登陆等高强度海练造成的女陆战队员内分泌性激素水平改变及月经失调,可通过适当调整训练量和强度、平衡饮食保证能量供应、实施心理干预等措施降低其发生率,这为科学海练提供了依据,同时可预防运动性月经失调的发生。     

Teaching about cystic fibrosis carrier screening by using written and video information.

We performed two studies using only written and video materials to educate people about cystic fibrosis (CF) and carrier screening. Participants were randomized to receive written or video materials. All received a brief questionnaire. Subjects in group I (n = 238) were (1) individuals in steady relationships and their partners, (2) > or = 18 years old, and (3) not pregnant. Those who accepted free screening and were not demonstrable carriers were sent a letter explaining their results and another questionnaire. Subjects in group II (n = 108) were parents seeking well child care in a university clinic. The main outcome measures were ability to answer questions correctly about (1) health status of CF carriers and people with CF, (2) the possibility of false-negative results, and (3) for those who had screening, the implications of their own results. Written and video materials were equally effective in conveying information. Prior to screening, subjects answered an average of 86% of questions correctly. Subjects with less formal education answered fewer questions correctly; 60% of those with less than a high school education had adequate knowledge of the health consequences of having CF or being a carrier, compared with > or = 94% of college graduates. Performance improved after screening. Where neither partner was a demonstrable carrier, 88% knew their own and their partner's test results, and 90% indicated that their risk of having a child with CF was not zero. Written and video educational materials can be used without face-to-face counseling to inform most people about carrier screening and their test results. These materials may be less effective for those with lower educational backgrounds.     

求助者中心疗法结合放松训练对肿瘤患者负性情绪的影响

目的探讨求助者中心疗法结合放松训练对肿瘤患者负性情绪的影响。方法采用焦虑自评量表(SAS)、抑郁自评量表(SDS)和90项症状清单(SCL-90),筛选存在负性情绪的120例肿瘤患者,按随机数字表法分成A、B、C、D 4组。在肿瘤常规治疗的基础上,A组病人给予传统的常规护理,B组病人应用求助者中心疗法干预,C组病人采用放松训练,D组病人给予求助者中心疗法和放松训练联合干预,干预6周后再次进行SAS、SDS、SCL-90测评,比较各组心理干预疗法对患者负性情绪的影响效果。结果传统护理组患者干预前后负性情绪无明显改善(P0.05);应用心理疗法干预的B、C、D组患者干预前后不良情绪均有改善,差异有统计学意义(P0.01);联合应用两种心理疗法的D组与单独应用其中一种方法的B、C组组间比较差异有统计学意义(P0.05);而单独应用一种心理疗法的B组与C组比较差异无统计学意义(P0.05)。结论求助者中心疗法结合放松训练能更有效改善肿瘤患者的焦虑、抑郁等负性情绪。     

正念减压法对恶性肿瘤患者癌因性疲乏和负性情绪的干预效果

目的:探讨正念减压法对恶性肿瘤患者癌因性疲乏以及负性情绪的干预效果。方法:选择2016年7月-2018年3月期间我院收治的122例恶性肿瘤患者为研究对象,以随机数字表法分为观察组(n=61)和对照组(n=61),对照组接受常规健康心理疏导,观察组给予正念减压法进行干预,干预疗程为3个月。干预前后分别采用癌症疲乏量表、焦虑自评量表和汉密尔顿抑郁量表(HAMD)、肺癌生存质量测定量表(FACT-L)评估两组患者癌因性疲乏情况、焦虑和抑郁情况及生活质量。结果:干预后,两组认知疲乏评分、躯体疲乏评分、情感疲乏评分及总分均较干预前降低,且观察组低于对照组(P0.05)。干预后对照组焦虑自评量表评分和HAMD评分与干预前比较无统计学差异(P0.05),干预后观察组焦虑自评量表评分和HAMD评分低于干预前和对照组(P0.05)。干预后生理状况、社会/家庭状况、情感状况、功能状况及附加的关注情况评分较干预前上升,且观察组高于对照组(P0.05)。结论:在恶性肿瘤患者的干预过程中正念减压法能够显著降低患者的癌因性疲乏程度,改善患者负性情绪,同时对提高患者的生活质量也具有积极作用。     

Subspecies differences in hormonal and behavioral responses after group formation in squirrel monkeys

The behavioral and hormonal responses of squirrel monkeys of the Bolivian and Guyanese subspecies were compared after a group formation procedure. Two groups of each subspecies, consisting of five females and three males (later reduced to two) were observed daily during the week of group formation and for nine weeks following removal of a single male from each group. Measures of plasma cortisol were examined in the females after the initial group formation and after the groups were reduced by one male. The levels of plasma testosterone were assessed in all the males during the initial week of group formation. Linear dominance hierarchies were determined both within and across the sexes in both subspecies. The frequency and directionality of low-level aggressive interactions indicated that females of the Bolivian subspecies were dominant to the males, while the males of the Guyanese subspecies ranked over all the females. Additionally, the Bolivian squirrel monkey females showed an elevation of plasma cortisol on the day of group formation, which declined 48 hr later, then reelevated after the groups were reduced by one male and declined gradually over a nine-week period. Guyanese females showed little change in cortisol levels during both periods. This suggests fundamental hormonal, as well as behavioral, differences between the two subspecies. The change in plasma testosterone levels in the males during the initial week of group formation was positively correlated with social status. Furthermore, differences in the dynamics within individual groups for each subspecies were reflected by the levels of plasma cortisol of the female members.     

Randomised comparison of procedures for obtaining informed consent in clinical trials of treatment for cancer.

Methods of obtaining informed consent have evolved differently in Western countries without substantive information on the impact of these different practices on the patients. A randomised study was performed to compare two commonly adopted methods of seeking consent to randomised treatment: an individual approach at the discretion of each doctor and a uniform policy of total disclosure of all relevant information. The impact of both consent procedures on the patient''s understanding and anxiety levels and on the doctor-patient relationship was assessed by means of a questionnaire given soon after the consent interview. Fifty seven patients were assigned at random to two groups: to 29 patients an individual approach to seeking consent was adopted and to 28 patients all relevant information was given. Seven patients refused consent to randomised treatment, with slightly more refusals by patients in the total disclosure group (5 v 2, p = 0.25). The main effects of total disclosure of all information compared with an individual approach to seeking consent were: a better understanding of treatment and side effects and of research aspects of the treatments; less willingness to agree to randomised treatment; and increased anxiety. No significant differences were found in patients'' perceptions of the doctor-patient relationship. A repeat questionnaire given three to four weeks later no longer showed significant differences between the two groups.     

下肢间歇负压疗法对男子赛艇运动员股四头肌皮肤微循环血流灌注量的影响*

目的: 观察下肢间歇负压疗法对男子赛艇运动员股四头肌皮肤微循环血流灌注量的影响,为该方法的实际应用提供理论依据。方法: 选取国家赛艇集训队的14名男子运动员,随机分为试验组和对照组,两组队员每日的训练计划相同,采用德国生产的VACUSPORT间歇负压体能恢复舱对试验组队员实行恢复干预,每次干预20 min,每周干预5次,共持续4周。在4周干预前后利用PeriFlux System 5000激光多普勒血流监测仪采集两组运动员股四头肌皮肤微循环血流灌注量(MBP)、血细胞运动速度(AVBC)及血细胞浓度(CMBC)等数据,测试值包括基础值与加热后值(44℃),并以加热前后的差值作为该指标的储备能力。结果: 干预前两组的微循环相关指标无统计学差异(P＞0.05),4周干预后的测试结果如下①MBP:试验组MBP的加热后值和前后差值均显著高于对照组(P＜0.05);组内比较无统计学差异。②AVBC:试验组AVBC的加热后值和前后差值均显著低于对照组(P＜0.05);组内比较发现,干预后试验组AVBC的加热后值相比干预前显著降低(P＜0.01),其加热前后差值相比干预前显著降低(P＜0.05)。③CMBC:试验组CMBC的加热后值和前后差值均非常显著高于对照组(P＜0.01);组内比较无统计学差异。结论: 下肢间歇负压疗法可改善男子赛艇运动员股四头肌皮肤微循环血流状态,对促进体能的快速恢复有着积极作用。     

Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening.

OBJECTIVE--To perform a rigorous comparative evaluation of stepwise and couple approaches to antenatal carrier screening for cystic fibrosis. DESIGN--Pragmatic randomised trial. SETTING--Hospital antenatal clinic serving a regional population. SUBJECTS--2002 women (couples) attending for booking antenatal visit at less than 17 weeks'' gestation with no family history of cystic fibrosis. INTERVENTIONS--Offering counselling and carrier testing for cystic fibrosis, either to women in the first instance (stepwise) or to couples (couple screening). MAIN OUTCOME MEASURES--Uptake rates; anxiety; knowledge of cystic fibrosis and carrier status (both partners); attitudes to health, pregnancy, the baby, and screening (both partners); and uptake of carrier testing by relatives. RESULTS--Uptake of screening was the same for both approaches (90%). After delivery most women remembered test results and their meaning, but 53/253 (21%) of those with negative results of couple testing had forgotten that repeat testing would be advisable if they had a pregnancy with a new partner. With stepwise screening women identified as carriers had high levels of anxiety when results were received (mean anxiety score 52.3). This dissipated with a reassuring partner''s result (carriers'' mean anxiety score 36.1) to levels similar to those receiving negative results from couple screening. Of those receiving negative results, women who had stepwise screening were significantly less anxious than those who had couple screening (mean score with result 32.1 v 35.4, 95% confidence interval for difference -4.7 to -2.1). CONCLUSIONS--Couple screening allows carriers to avoid transient high levels of anxiety, but is associated with more anxiety and false reassurance among most screenees who will test negative. Stepwise screening gives carriers and their relatives genetic information and is, in our opinion, the better method.     

个性化干预方案对乳腺癌手术患者负性情绪和睡眠质量的影响

目的:研究个性化干预方案对乳腺癌手术患者负性情绪和睡眠质量的影响。方法:选取2012年1月-2015年1月在我院进行乳腺癌手术的患者311例,按照随机数字表法将患者分为研究组(n=152)和对照组(n=159)。对照组给予常规干预,研究组在对照组基础上给予个性化干预。干预前后应用焦虑自评量表(SAS)评价患者的焦虑情况,应用抑郁自评量表评分(SDS)评价患者的抑郁情况,应用匹兹堡睡眠质量指数(PSQI)评价患者的睡眠质量,并比较两组患者对护理服务的满意度。结果:研究组满意度97.4%显著高于对照组的88.7%,两组比较差异具有统计学意义(P0.05);干预后研究组SAS评分、SDS评分和PSQI评分均显著降低,且显著低于对照组,两组比较差异均具有统计学意义(P0.05)。结论:个性化干预方案能显著改善乳腺癌手术患者的焦虑、抑郁情绪,提高患者的睡眠质量。