Bilateral cleft lip and palate, hypertelorism and hypoplastic toes

We report on a 23-month-old boy with bilateral cleft lip and palate, marked hypertelorism, frontal bossing and severe bilateral, asymmetric hypoplasia of toes. The mother used bisoprolol, naproxen and sumatriptan for migraine until the fifth postmenstrual week of pregnancy. We suggest that this patient's features represent a previously undescribed entity of as yet unknown aetiology.     

Liver-fat accumulation and insulin resistance in obese women with previous gestational diabetes

OBJECTIVE: We determined whether fat accumulation in the liver is associated with features of insulin resistance independent of obesity. RESEARCH METHODS AND PROCEDURES: We recruited 27 obese nondiabetic women in whom liver fat (LFAT) content was determined by proton spectroscopy, intra-abdominal and subcutaneous fat by magnetic resonance imaging, and insulin sensitivity by the euglycemic insulin clamp technique. The women were divided based on their median LFAT content (5%) to groups with low (3.2 +/- 0.3%) and high (9.8 +/- 1.5%) liver fat. The groups were almost identical with respect to age (36 +/- 1 vs. 38 +/- 1 years in low vs. high-LFAT), body mass index (32.2 +/- 0.6 vs. 32.8 +/- 0.5 kg/m(2)), waist-to-hip ratio, intra-abdominal, subcutaneous, and total fat content. RESULTS: Women with high LFAT had features of insulin resistance including higher fasting serum triglyceride (1.93 +/- 0.21 vs. 1.11 +/- 0.09 mM, p < 0.01) and insulin (14 +/- 3 vs. 10 +/- 1 mU/L, p < 0.05) concentrations than women with low LFAT. The group with high LFAT also had higher 24-hour blood pressures, and lower whole-body insulin sensitivity compared with the low-LFAT group. DISCUSSION: In obese women with previous gestational diabetes, LFAT, rather than any measure of body composition, is associated with features of insulin resistance.     

Magnesium depletion in chronic terminal liver cirrhosis

Serum ionized magnesium represents less than 1% of the total body magnesium. The most reliable method to evaluate magnesium status is the magnesium loading test: In magnesium depletion its uptake is increased (20-50%) and is about 6% in normal magnesium status. There are no studies on magnesium status in chronic cirrhotics who may be in depletion. We performed magnesium loading test in 10 chronic cirrhotics listed for liver transplantation and in six healthy control patients. Magnesium sulphate 30 mmol was infused and urine magnesium was determined over 24 h. Serum ionized magnesium increased similarly in all patients. The uptake of magnesium was 8 +/- 8% in control patients and 34 +/- 26% in cirrhotics (p < 0.01). Chronic terminal cirrhotics are magnesium depleted which should be taken into account in case of liver transplantation and also in other interventions. Spot sampled serum ionized magnesium revealed magnesium depletion poorly.     

Effect of alcohol on bladder function: A uroflowmetric and cystometric study

Alcohol intake may provoke urinary retention in young persons without a previous history of obstructive urinary tract disease. The mechanism by which alcohol causes urinary retention is unknown. Ten healthy male volunteers had urodynamic studies performed before and under the influence of alcohol. Detrusor instability was found in four test persons under the influence of alcohol. The mechanisms by which alcohol may cause urinary retention are discussed.     

Effects and Significance of Premature Beats on Fractal Correlation Properties of R‐R Interval Dynamics

Background: Premature beats (PBs) have been considered as artifacts producing a bias in the traditional analysis of heart rate (HR) variability. We assessed the effects and significance of PBs on fractal scaling exponents in healthy subjects and patients with a recent myocardial infarction (AMI). Methods: Artificial PBs were first generated into a time series of pure sinus beats in 20 healthy subjects and 20 post‐AMI patients. Thereafter, a case‐control approach was used to compare the prognostic significance of edited and nonedited fractal scaling exponents in a random elderly population and in a post‐AMI population. Detrended fluctuation analysis (DFA) was used to measure the short‐term (α₁) and long‐term (α₂) fractal scaling exponents. Results: Artificial PBs caused a more pronounced reduction of α₁ value among the post‐AMI patients than the healthy subjects, for example, if >0.25% of the beats were premature a >25% decrease in the α₁ was observed in post‐AMI patients, but 4% of the premature beats were needed to cause a 25% reduction in α₁ in healthy subjects. Both edited (1.01 ± 0.31 vs 1.19 ± 0.27, P < 0.01) and unedited α₁ (0.71 ± 0.33 vs 0.89 ± 0.36, P < 0.05) differed between the patients who died (n = 42) and those who survived (n = 42) after an AMI. In the general population, only unedited α₁ differed significantly between survivors and those who died (0.96 ± 0.19 vs 0.83 ± 0.27, P < 0.05). Conclusions: Unedited premature beats result in an increase in the randomness of short‐term R‐R interval dynamics, particularly in post‐AMI patients. Premature beats must not necessarily be edited when fractal analysis is used for risk stratification.     

Binding of 3-isobutyl-1-methylxanthine into copolymers of N-isopropylacrylamide

Linear and crosslinked copolymers based on N-isopropylacrylamide, NIPAAm, containing aromatic esters, have been synthesised. Vinyl benzoate and cinnamoyloxyethyl methacrylate have been used as aromatic comonomers. Certain aromatic esters are known of their capability to form molecular complexes with xanthines and thus, the purpose was to build up thermally responsive copolymers which specifically bind certain xanthines in aqueous solutions and release those under an influence of an environmental stimulus. The solutions of the linear copolymers have been studied in water in the presence of 3-isobutyl-1-methylxanthine, IBMX, as a function of drug concentration and temperature. The synthesised linear copolymers exhibited sensitivity to IBMX concentration in aqueous solutions above and below LCST, observed by viscosimetry and dynamic light scattering. The results are indicative of complex formation between the copolymers and IBMX. The crosslinked copolymers showed an increased IBMX binding capacity with an increasing amount of aromatic ester groups in the polymer network. IBMX release rates from the crosslinked gels were slowed down by the increasing degree of aromatic substitution, especially above LCST.     

Comparison of Ondansetron with Customary Treatment in the Prophylaxis of Nausea and Emesis Induced by Non-Cisplatin Containing Chemotherapy

One hundred cancer patients receiving non-cisplatin containing chemotherapy were entered in a prospective study in which the efficacy of ondansetron was compared with standard antiemetic treatments in the prophylaxis of nausea and emesis. During the first 24 h, 77% of patients on ondansetron reported complete control of emesis compared with 56% of those on customary treatments (p = 0.03). However, no statistically significant difference was observed between ondansetron and customary treatments in control of delayed emesis on days 2-5. Nor was any statistically significant difference seen between ondansetron and customary treatments in preventing acute or delayed nausea.     

Parents' perspectives on dried blood spot self-sampling from children with epilepsy: A mixed-method study

Aim

Children with epilepsy often have concomitant diagnoses. Dried blood spot samples for drug monitoring can be collected by parents at home as an alternative to traditional sampling. This mixed-method study aimed to understand the parents' perspectives on blood self-sampling from their children and to identify factors contributing to successful sampling.

Method

Parents who had collected a sample from their child during a visit to the neuropediatric clinic were asked to fill in a questionnaire. To get in-depth information and individual perspectives, parents and nurses participated in semi-structured interviews and analysed with thematic analysis.

Results

The results from questionnaires (n = 64) and interviews (n = 9) were interpreted together. Watching an instruction video and practical training contributed to successful sampling. 97% of the parents managed to collect a sample, 72% thought it was easy to perform, and 80% found self-sampling at home desirable. Factors for success were as follows: high motivation, prepared parents with pre-understanding, a pragmatic attitude, flexible education, effective communication and willingness to take on the role as a performer. Risk factors were as follows: conflict, fear, unprepared parents, confused or worried children.

Conclusion

Voluntary self-sampling at home for parents of children with epilepsy is feasible and can reduce stress factors in everyday life.

     

IFN-gamma induced persistent Chlamydia pneumoniae infection in HL and Mono Mac 6 cells: characterization by real-time quantitative PCR and culture

Growth of Chlamydia pneumoniae during gamma interferon (IFN-gamma) induced persistent infection in epithelial (HL) and monocyte-macrophage (Mono Mac 6) cell lines was studied by a quantitative real-time PCR and passage. When HL cultures were treated with IFN-gamma (25 U/ml), the replication of C. pneumoniae DNA was unaffected while differentiation into infectious elementary bodies (EB) was strongly inhibited, and in contrast to the untreated cultures, no second cycle of infection was observed. The estimated doubling time of C. pneumoniae genomes was 6-7 h in both IFN-gamma treated and untreated HL cultures. At 72 h post inoculation, most infectious EBs were released from untreated cultures, whereas in IFN-gamma treated HL cells >90% of C. pneumoniae genomes were in non-infectious form. A higher dose (1000 U/ml) of IFN-gamma was needed to restrict growth of C. pneumoniae in Mono Mac 6 cells. In untreated Mono Mac 6 cultures, the growth curve of C. pneumoniae resembled that observed in HL cells, except that no second cycle of infection could be detected. In IFN-gamma treated Mono Mac 6 cultures, the number of infectious C. pneumoniae EBs recovered decreased gradually after 3 days post inoculation, while C. pneumoniae genome load remained unaltered suggesting persistence of C. pneumoniae also in these cells.     

Adherence and Dietary Composition during Intermittent vs. Continuous Calorie Restriction: Follow-Up Data from a Randomized Controlled Trial in Adults with Overweight or Obesity

Although intermittent calorie restriction (ICR) has become popular as an alternative weight loss strategy to continuous calorie restriction (CCR), there is insufficient evidence on diet quality during ICR and on its feasibility over longer time periods. Thus, we compared dietary composition and adherence between ICR and CCR in a follow-up analysis of a randomized trial. A total of 98 participants with overweight or obesity [BMI (kg/m²) 25–39.9, 35–65 years, 49% females] were randomly assigned to ICR, operationalized as a “5:2 diet” (energy intake: ~100% on five non-restricted (NR) days, ~25% on two restricted (R) days), or CCR (daily energy intake: ~80%). The trial included a 12-week (wk) intervention phase, and follow-up assessments at wk24, wk50 and wk102. Apart from a higher proportion of energy intake from protein with ICR vs. CCR during the intervention (wk2: p < 0.001; wk12: p = 0.002), there were no significant differences with respect to changes in dietary composition over time between the groups, while overall adherence to the interventions appeared to be good. No significant difference between ICR and CCR regarding weight change at wk102 was observed (p = 0.63). However, self-reported adherence was worse for ICR than CCR, with 71.1% vs. 32.5% of the participants reporting not to or only rarely have followed the regimen to which they were assigned between wk50 and wk102. These results indicate that within a weight management setting, ICR and CCR were equivalent in achieving modest weight loss over two years while affecting dietary composition in a comparable manner.