Analysis using fish of sperm and embryos from two carriers of rare rob(13;21) and rob(15;22) robertsonian translocation undergoing PGD

The majority of fluorescence in situ hybridization (FISH) studies on the meiotic segregation of Robertsonian translocations focus on the most common types, rob(13; 14) and rob(14; 21). Here we report the first study for carriers of rare Robertsonian translocations rob(13; 21) and rob(15; 22) combining analysis of meiotic segregation in sperm and blastomeres following pre-implantation genetic diagnosis (PGD). Dual-colour FISH was applied to nuclei from spermatozoa and blastomeres from PGD embryos using two subterminal contig probes for each translocation, and a second round with probes for chromosomes 16 and 18. Patient 1 had a rob(13; 21) and patient 2 had a rob(15; 22), and 86.3% and 87.5% of gametes respectively were consistent with meiotic segregation resulting in a normal or balanced chromosome complement. Analysis of embryos showed that for patient 1 and 2 respectively, 25% and 46% were balanced, and of the unbalanced embryos, 50% and 31% were mosaic or chaotic. Our patients with a rob(13; 21) and rob(15; 22) were found to have a similar meiotic segregation pattern to that for male carriers of the common Robertsonian translocations. The observed rate in unbalanced embryos being mosaic or chaotic may result in an increased risk of chromosomal abnormalities. Our results may help to improve the genetic counseling for carriers of rare Robertsonian translocations.     

Treating insomnia in Swiss primary care practices: A survey study based on case vignettes

Guidelines recommend cognitive behavioural therapy for insomnia (CBT‐I) as first‐line treatment for chronic insomnia, but it is not clear how many primary care physicians (PCPs) in Switzerland prescribe this treatment. We created a survey that asked PCPs how they would treat chronic insomnia and how much they knew about CBT‐I. The survey included two case vignettes that described patients with chronic insomnia, one with and one without comorbid depression. PCPs also answered general questions about treating chronic insomnia and about CBT‐I and CBT‐I providers. Of the 820 Swiss PCPs we invited, 395 (48%) completed the survey (mean age 54 years; 70% male); 87% of PCPs prescribed sleep hygiene and 65% phytopharmaceuticals for the patient who had only chronic insomnia; 95% prescribed antidepressants for the patient who had comorbid depression. In each case, 20% of PCPs prescribed benzodiazepines or benzodiazepine receptor agonists, 8% prescribed CBT‐I, 68% said they knew little about CBT‐I, and 78% did not know a CBT‐I provider. In the clinical case vignettes, most PCPs treated chronic insomnia with phytopharmaceuticals and sleep hygiene despite their lack of efficacy, but PCPs rarely prescribed CBT‐I, felt they knew little about it, and usually knew no CBT‐I providers. PCPs need more information about the benefits of CBT‐I and local CBT‐I providers and dedicated initiatives to implement CBT‐I in order to reduce the number of patients who are prescribed ineffective or potentially harmful medications.     

You are not in the army now! A field study on the impact of a Preparation for Civilian Life program on young soldiers

Recent years have seen the implementation of educational programs aimed at developing future orientation and better employability skills, mostly for people new to or returning to the job market. In a field study, we investigated the impact of a 5-day program on reintegration to civilian life on young Israeli combat soldiers' time preferences, gratitude, patriotism, and perceptions of their combat experience. Questionnaires administered before and after the program revealed a positive effect on future orientation but a negative effect on gratitude and perceptions of the combat experience. Although the positive effect on future orientation is in line with the program design, the negative effects found should be taken into consideration when planning or improving similar educational programs.     

Quantitative MR characterization of disease activity in the knee in children with juvenile idiopathic arthritis: a longitudinal pilot study

Background The development of a quantifiable and noninvasive method of monitoring disease activity and response to therapy is vital for arthritis management. Objective The purpose of this study was to investigate the utility of quantitative dynamic contrast-enhanced MRI (DCE-MRI) based on pharmacokinetic (PK) modeling to evaluate disease activity in the knee and correlate the results with the clinical assessment in children with juvenile idiopathic arthritis (JIA). Materials and methods A group of 17 children with JIA underwent longitudinal clinical and laboratory assessment and DCE-MRI of the knee at enrollment, 3 months, and 12 months. A PK model was employed using MRI signal enhancement data to give three parameters, K^{trans ′} (min⁻¹), k_ep (min⁻¹), and V_p ^′ and to calculate synovial volume. Results The PK parameters, synovial volumes, and clinical and laboratory assessments in most children were significantly decreased (P < 0.05) at 12 months when compared to the enrollment values. There was excellent correlation between the PK and synovial volume and the clinical and laboratory assessments. Differences in MR and clinical parameter values in individual subjects illustrate persistent synovitis when in clinical remission. Conclusion A decrease in PK parameter values obtained from DCE-MRI in children with JIA likely reflects diminution of disease activity. This technique may be used as an objective follow-up measure of therapeutic efficacy in patients with JIA. MR imaging can detect persistent synovitis in patients considered to be in clinical remission.     

Polysomnographic and actigraphic evidence of sleep fragmentation in patients with irritable bowel syndrome

STUDY OBJECTIVE: To characterize the function and quality of sleep in patients with irritable bowel syndrome (IBS). DESIGN: A prospective study with a historic comparison group. SETTING: A regional hospital that also serves as a tertiary referral center. PATIENTS: Eighteen patients with IBS and a comparison group of 20 matched adults with mild benign snoring. INTERVENTIONS: A polysomnography study and a wrist actigraphy study. MEASUREMENTS: All subjects underwent sleep studies and completed self-report questionnaires (IBS severity, psychosocial variables, sleep function, and Epworth Sleepiness Scale). Fourteen IBS and 11 comparison patients underwent actigraphy. RESULTS: The IBS patients had more than 70% less slow-wave stage sleep (4.5 +/- 7.3% vs 19.3 +/- 12.9%; P = 0.006), compensated by increased stage 2 sleep (72.2 +/- 6.6% vs 60.1 +/- 16.8%; P = 0.01). The IBS group had significant sleep fragmentation with a significantly higher arousal and awakening index (P < 0.001), a longer wake period after sleep onset (P = 0.02), and more downward shifts to lighter sleep stages (P = 0.01). The 4-night actigraphy study supported the polysomnography findings. The sleep fragmentation index was significantly higher (P = 0.008) in the IBS group. The IBS patients reported greater daytime sleepiness (9.0 +/- 4.8 vs 6.4 +/- 4.8, Epworth Sleepiness Scale score, P < 0.01) and greater impairment in quality of life, which correlated significantly with the sleep fragmentation indexes. The difference between the groups was not due to differences in baseline anxiety/depression levels. CONCLUSIONS: Patients with IBS have impaired sleep quality, reduced slow-wave sleep activity, and significant sleep fragmentation. The cause-and-effect relationship of these findings with patients' daytime symptoms should be studied further.     

The immunolocalization of HIF-2α, GLUT1 and CAIX in porcine oviduct during the estrous cycle

Oxygen (O₂) rates in the oviduct are essential to human and animal reproduction. These rates are regulated by the activity of hypoxia markers such as the hypoxia-inducible factors (HIFs), the glucose transporters (GLUT), and the carbonic anhydrase (CA). In the porcine model, scarce studies have been reported regarding these markers and their effects in reproduction are unknown. The objective was to characterize the immunolocalization of HIF-2α, GLUT1, and CAIX in porcine oviducts throughout the estrous cycle. Oviducts (ampulla and isthmus) of adult sows (n = 45) were collected for histological and immunohistochemical analysis with HIF-2α, GLUT1, and CAIX markers. The percentage of immunopositive area was quantified, and the differences among phases of the estrous cycle were analyzed (folicular, early luteal, and late luteal). The three markers showed epithelial presence mainly. Significantly lower expression of HIF-2α was found in the luteal phases, especially in the isthmus. GLUT1 expression did not change throughout the estrous cycle, but differences were found between the ampulla and isthmus. CAIX expression showed the highest, with a significant downward trend throughout estrous cycle. The ubiquitous expression of hypoxia markers shows the porcine oviduct physiology in relation to O₂. The differential expression of HIF-2α, GLUT1, and CAIX in different subcompartments of the oviduct throughout the estrous cycle contributes to improve the knowledge of the cell physiology of the oviduct, which can be useful in fertilization studies.