Parents' Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease

The clinical advantages of the newborn screening programme (NBS) in the UK are well described in the literature. However, there has been little exploration of the psychosocial impact on the family. This study followed the principles of grounded theory to explore parents' experiences of receiving the initial positive NBS result for their child with cystic fibrosis (CF) or sickle cell disease (SCD). Semi-structured, qualitative interviews were conducted with 22 parents (12 mothers and 10 fathers) whose children had been diagnosed with CF or SCD via NBS and were under the age of 1 year at the time of interview. The main themes that arose from the data were; parents previous knowledge of the condition and the NBS programme, the method of delivery and parental reactions to the result, sharing the results with others, the impact on parental relationships and support strategies. Study conclusions indicate that most parents thought initial positive NBS results should be delivered by a health professional with condition specific knowledge, preferably with both parents present. Genetic counselling needs to include a focus on the impact of NBS results on parental relationships. Careful consideration needs to be given to strategies to support parents of babies who have positive NBS results both in terms of the psychological health and to assist them in sharing the diagnosis

Large kidneys predict poor renal outcome in subjects with diabetes and chronic kidney disease

<p>Abstract</p> <p>Background</p> <p>Renal hypertrophy occurs early in diabetic nephropathy, its later value is unknown. Do large kidneys still predict poor outcome in patients with diabetes and Chronic Kidney Disease (CKD)?</p> <p>Methods</p> <p>Seventy-five patients with diabetes and CKD according to a Glomerular Filtration Rate (GFR, by 51Cr-EDTA clearance) below 60 mL/min/1.73 m²or an Albumin Excretion Rate above 30 mg/24 H, had an ultrasound imaging of the kidneys and were cooperatively followed during five years by the Diabetology and Nephrology departments of the Centre Hospitalier Universitaire de Bordeaux.</p> <p>Results</p> <p>The patients were mainly men (44/75), aged 62 ± 13 yrs, with long-standing diabetes (duration:17 ± 9 yrs, 55/75 type 2), and CKD: initial GFR: 56.5 (8.5-209) mL/min/1.73 m², AER: 196 (20-2358) mg/24 H. Their mean kidney lenght (108 ± 13 mm, 67-147) was correlated to the GFR (r = 0.23, p < 0.05). During the follow-up, 9/11 of the patients who had to start dialysis came from the half with the largest kidneys (LogRank: p < 0.05), despite a 40% higher initial isotopic GFR. Serum creatinine were initially lower (Small kidneys: 125 (79-320) μmol/L, Large: 103 (50-371), p < 0.05), but significantly increased in the "large kidneys" group at the end of the follow-up (Small kidneys: 129 (69-283) μmol/L, Large: 140 (50-952), p < 0.005 vs initial). The difference persisted in the patients with severe renal failure (KDOQI stages 4,5).</p> <p>Conclusions</p> <p>Large kidneys still predict progression in advanced CKD complicating diabetes. In these patients, ultrasound imaging not only excludes obstructive renal disease, but also provides information on the progression of the renal disease.</p

Cystatin C is not a good candidate biomarker for HNF1A-MODY.

Cystatin C is a marker of glomerular filtration rate (GFR). Its level is influenced, among the others, by CRP whose concentration is decreased in HNF1A-MODY. We hypothesized that cystatin C level might be altered in HNF1A-MODY. We aimed to evaluate cystatin C in HNF1A-MODY both as a diagnostic marker and as a method of assessing GFR. We initially examined 51 HNF1A-MODY patients, 56 subjects with type 1 diabetes (T1DM), 39 with type 2 diabetes (T2DM) and 43 non-diabetic individuals (ND) from Poland. Subjects from two UK centres were used as replication panels: including 215 HNF1A-MODY, 203 T2DM, 39 HNF4A-MODY, 170 GCK-MODY, 17 HNF1B-MODY and 58 T1DM patients. The data were analysed with additive models, adjusting for gender, age, BMI and estimated GFR (creatinine). In the Polish subjects, adjusted cystatin C level in HNF1A-MODY was lower compared with T1DM, T2DM and ND (p < 0.05). Additionally, cystatin C-based GFR was higher than that calculated from creatinine level (p < 0.0001) in HNF1A-MODY, while the two GFR estimates were similar or cystatin C-based lower in the other groups. In the UK subjects, there were no differences in cystatin C between HNF1A-MODY and the other diabetic subgroups, except HNF1B-MODY. In UK HNF1A-MODY, cystatin C-based GFR estimate was higher than the creatinine-based one (p < 0.0001). Concluding, we could not confirm our hypothesis (supported by the Polish results) that cystatin C level is altered by HNF1A mutations; thus, it cannot be used as a biomarker for HNF1A-MODY. In HNF1A-MODY, the cystatin C-based GFR estimate is higher than the creatinine-based one.This article is freely available via Open Access. Click on the ‘Additional Link’ above to access the full-text from the publisher’s site.DHCS/07/07/008/Department of Health/United Kingdo

Immunity following use of Australian tick fever vaccine: a review of the evidence

To review the evidence available on the degree and duration of immunity provided by Australian tick fever vaccines against Babesia bovis, B bigemina and Anaplasma marginale infections in Australia and overseas. Background Vaccines containing attenuated strains of B bovis and B bigemina as well as A centrale grown in splenectomised calves have been used in Australia since 1964 to immunise cattle against tick fever. About 800,000 doses of vaccine are supplied annually and much of the evidence for protection is field evidence rather than conventional immunological measures or pen trials. Conclusions Immunity to Babesia bovis and B bigemina — A single inoculation generally provides sound, long-lasting protection both in Australia and overseas. No evidence was found of a loss of immunity with time. Vaccine failures to B bovis do occur, but are uncommon and evidently caused by a number of factors, including immune responsiveness of the vaccinated animals, and immunogenicity of the vaccine strain. Immunity to Anaplasma marginale— The vaccine containing A centrale provides partial, variable protection against A marginale. Protection against challenge in Australia is adequate in most cases to prevent disease and use of the vaccine in this country appears to be justified. Protection against antigenically diverse, highly virulent stocks of A marginale in other countries is, at times, clearly inadequate and better vaccines are required in situations where the challenge is severe

Interpreting different measures of glomerular filtration rate in obesity and weight loss: pitfalls for the clinician

To combat the increasing incidence of obesity, much research has been devoted to devising successful strategies for weight loss, including manipulation of diet and gastric surgery. Obesity itself can be associated with renal dysfunction, and the degree of reversibility of this with weight loss has being studied. However, there are significant limitations and flaws in the methods we have available to measure glomerular filtration rate (GFR) in overweight and obese subjects. Obesity is associated with changes in body composition including lean and fat mass. This has implications for assumptions that underpin creatinine-based measures such as creatinine clearance, estimated GFR and other equations devised for obesity including the Salazar–Corcoran equation. These changes in body composition also affect measures of glomerular filtration such as cystatin C and nuclear medicine isotope scans. This article will review the accuracy of these current measures of renal function in the obese and consider the evidence for adjusting for body surface area or adjusting for lean body mass. Finally, the effect of weight loss itself on serial measurements of renal function in a given individual, independent of a true change in renal function, will be reviewed. Ultimately using the Cockcroft–Gault equation with an adjustment for lean body mass seems to be the best measure for renal function in obesity. No method for measuring renal function in situations of weight loss has been shown to be unequivocally superior.D.R. Jesudason and P. Clifto