Interferon-gamma gene (T874A and G2109A) polymorphisms are associated with microscopy-positive tuberculosis

Genetic susceptibility to tuberculosis includes several unknown yet different loci each contributing to a small extent. Intronic polymorphisms within the interferon-gamma (IFN-gamma) gene IFNG T+874A and IFNG G+2109A correlate with the IFN-gamma production in vitro, and the frequency of potential high IFN-gamma producers was previously reported by others to be lower in patients than in controls from Sicily. The aim of this study was to determine whether there is an association between polymorphisms in the IFN-gamma gene and predisposition to tuberculosis. We analysed two IFNG SNPs (T+874A and G+2109A) in patients (n = 253) hospitalized in Rijeka (Croatia) and controls (n = 519) from the same area. One-fifth of the controls were healthy contacts of the diseased, and the rest were blood donors. IFNG alleles, their predicted haplotypes or genotypes were not associated with disease susceptibility. Thus, we could not reproduce results from Sicilian case-control study. However, T/T+874 (possible high IFN-gamma producer) and +874A/A (putative low producer) genotypes were associated with microscopically positive-negative forms of disease. Haplotypes (T+874A and G+2109A) based on a prediction by software phase and subsequent genotype analysis corroborated these findings. Patients had significantly higher frequency of genotypes without T at +874 (AA/AA; AA/AG and AG/AG) in microscopy- or bacterial culture-positive groups compared with their negative counterparts. These data suggest an association with disease severity rather than susceptibility to tuberculosis in Croatian Caucasian population.     

Single Nucleotide Polymorphism in the Interleukin 12B Gene is Associated with Risk for Breast Cancer Development

Yellow nail syndrome (YNS) is a rare disorder of unknown aetiology that is characterized by yellow nails associated with lymphoedema and chronic respiratory manifestations. There are no detailed immunological studies in YNS. In this study, we present first extensive immunological analysis of both adaptive and innate immunity in two patients with YNS. One patient has common variable immunodeficiency, whereas second patient has specific antibody deficiency syndrome. Severe lymphopaenia, a striking deficiency of naïve CD4⁺ and CD8⁺ T cells and total B cells, and increased transitional B cells were observed. T cell proliferative response to mitogens and antigens was significantly reduced in both patients. Both patients failed to make specific antibody response to pneumococci. Complement, natural killer cell activity and neutrophil oxidative burst were normal. Immunoglobulin administration resulted in decreased frequency and severity of infections, and an impressive effect was observed on lymphoedema and on the recurrence of pleural effusion. Our data show that YNS is associated with both T and B cell defects. Furthermore, Immunoglobulin may be beneficial in clinical manifestations of lymphoedema.     

The experiences of couples who have had infertility treatment in the United Kingdom: results of a survey performed in 1997

A questionnaire was sent to 2000 members of two of the largest national infertility support organizations as part of the National Infertility Awareness Campaign (NIAC), 1997. A total of 980 questionnaires was completed and returned to the market research company, Ballington Hall. Some 69% of the respondents were aged between 30 and 39 years. One-third of the couples had been trying for a baby for more than 3 years, including one-tenth who had been trying to conceive for more than 10 years. Some 40% of respondents were successful in conceiving, although a significant proportion of these took more than 6 years. About 75% of those surveyed had been forced to pay for some or all of their infertility treatments and investigations, whereas 18% had their treatments funded fully by the National Health Service (NHS). Funding sources for the remaining 7% were unknown. Just over one-third of respondents felt that their GP provided sufficient information about the causes of infertility investigations and treatment, while the majority said that their specialists had been helpful. One in three said that they did not fully understand the medical nature of their own or their partner's infertility. A wide range of negative emotions was experienced by respondents. One in five said they experienced suicidal feelings; one in three said that infertility had strained their relationship; and just over one-quarter found that their relationship improved as a result of the treatment. Some 71% said that they would request counselling if it were offered free, but only 12% had been provided with free counselling on the NHS.     

Successful Geriatric Rehabilitation: Effects on Patients’ Outcome of a National Program to Improve Quality of Care,the SINGER Study

Objective

To determine whether the implementation of a national program to improve quality of care in geriatric rehabilitation (GR) in the Netherlands improves successful GR in terms of independence in activities of daily living (ADL), discharge destination, and length of stay.

Attitudes towards sex selection in the Western world

It appears that in most Western countries, son preference is somewhat stronger than daughter preference. However, when one considers the preference of women it looks as though the opposite pattern is emerging. There is a considerable social acceptance of 'light' methods of sex selection (such as diets), even though these methods are not proven to be effective. The inclination to use sperm separation methods appears to be greater in the United States than in some European countries. There are indications that a preference for boys or for girls is associated with attitudes towards technology, child-rearing style and the stereotyping of boys or girls.     

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional team acts commonly as the first point of contact. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents have access to specialist psychological support and that their information needs are comprehensively addressed. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration.     

The choice for sons or daughters

The aim of this study was to describe security associated with pregnancy and childbirth. Security was described as a human need and as a human value. Data were collected in semi-structured interviews in two maternity health care clinics. Data interpretation was based on the method of content analysis. A convenience sample of 20 volunteer Finnish women was interviewed during pregnancy. The elements creating security associated with pregnancy and childbirth were maternity health care, social support, sense of control, and attitudes. The feeling of security was manifested in different resources, feelings and behavior. If the feeling of security associated with pregnancy and childbirth was impaired, the participants would resort to their network of social support, contact health care or social welfare services, or try to achieve a sense of security by their own resources. Feeling secure during pregnancy influences the pregnant woman's resources, feelings and behavior. It is important that professionals in maternity health care talk with the client about issues that influence her individually-experienced security associated with pregnancy and childbirth. These include examination of the client's network of social support and informing the client about the health care and social welfare services available.