Familial Childhood Sleep Apnea

We report four siblings who had polysomnographically documented sleep apnea. Two presented with the typical clinical picture of sleep apnea syndrome including daytime somnolence and snoring, had repetitive obstructive apneic episodes during sleep, and were effectively treated with upper airway surgery. The other two were asymptomatic and showed infrequent apneic episodes during sleep. This family illustrates the distinction between the sleep apnea syndrome and infrequent apneic episodes during sleep. The sleep apnea syndrome is associated with daytime symptomatology and requires treatment. The presence of apneic episodes during sleep in all four siblings has implications regarding the predisposing factors (eg, upper airway anatomy and central nervous system dysfunction) versus precipitating factors (eg, obesity, upper airway infection, and central nervous system depressants) in sleep apnea

Sleep-Wake Complaints and Their Relation to Sleep Disturbance

This report is a comparison of patients presenting with 1) an insomnia complaint diagnosed as no objective findings. 2) insomnia diagnosed as being associated with a psychiatric disorder, and 3) daytime sleepiness diagnosed as no objective findings. The sleep of patients with insomnia diagnosed as no objective findings is comparable to that of patients with daytime sleepiness diagnosed as no objective findings and is significantly better than that of patients with insomnia associated with a psychiatric disorder. Significant differences were found in sleep induction, sleep maintenance, and overall sleep efficiency. No major differences were found among any of the groups in terms of sleep staging. All groups showed signs of psychological distress, but as expected this was significantly higher in the patients with insomnia associated with a psychiatric disorder. The fact that patients may present with sleep complaints (either insomnia or daytime somnolence) despite essentially normal sleep has clinical implications. Adequate evaluation of sleep complaints and symptomatic treatment plans are discussed

A Double-Blind Trial of Protriptyline in the Treatment of Sleep Apnea Syndrome

Eight male subjects with sleep apnea syndrome were given placebo and protriptyline in a double-blind crossover design to evaluate the effects of protriptyline on respiration during sleep. Treatment with protriptyline produced significantly better oxygenation and significantly fewer arousals during sleep, but sleep staging was unchanged. The decreased number of respiratory events approached significance and was much greater in six of eight subjects. A rapid eye movement sleep-suppression explanation of the improvement in oxygenation is not supported. Alternative explanations of these findings are discussed

Systematic Association Mapping Identifies NELL1 as a Novel IBD Disease Gene

Crohn disease (CD), a sub-entity of inflammatory bowel disease (IBD), is a complex polygenic disorder. Although recent studies have successfully identified CD-associated genetic variants, these susceptibility loci explain only a fraction of the heritability of the disease. Here, we report on a multi-stage genome-wide scan of 393 German CD cases and 399 controls. Among the 116,161 single-nucleotide polymorphisms tested, an association with the known CD susceptibility gene NOD2, the 5q31 haplotype, and the recently reported CD locus at 5p13.1 was confirmed. In addition, SNP rs1793004 in the gene encoding nel-like 1 precursor (NELL1, chromosome 11p15.1) showed a consistent disease-association in independent German population- and family-based samples (942 cases, 1082 controls, 375 trios). Subsequent fine mapping and replication in an independent sample of 454 French/Canadian CD trios supported the authenticity of the NELL1 association. Further confirmation in a large German ulcerative colitis (UC) sample indicated that NELL1 is a ubiquitous IBD susceptibility locus (combined p<10−6; OR = 1.66, 95% CI: 1.30–2.11). The novel 5p13.1 locus was also replicated in the French/Canadian sample and in an independent UK CD patient panel (453 cases, 521 controls, combined p<10−6 for SNP rs1992660). Several associations were replicated in at least one independent sample, point to an involvement of ITGB6 (upstream), GRM8 (downstream), OR5V1 (downstream), PPP3R2 (downstream), NM_152575 (upstream) and HNF4G (intron)

Nonhuman primates across sub-Saharan Africa are infected with the yaws bacterium Treponema pallidum subsp. pertenue

Dear Editor, The bacterium Treponema pallidum (TP) causes human syphilis (subsp. pallidum; TPA), bejel (subsp. endemicum; TEN), and yaws (subsp. pertenue; TPE) (1). Although syphilis has reached a worldwide distribution (2), bejel and yaws have remained endemic diseases. Bejel affects individuals in dry areas of Sahelian Africa and Saudi Arabia, whereas yaws affects those living in the humid tropics (1). Yaws is currently reported as endemic in 14 countries, and an additional 84 countries have a known history of yaws but lack recent epidemiological data (3,4). Although this disease was subject to global eradication efforts in the mid-20th century, it later reemerged in West Africa, Southern Asia, and the Pacific region (5). New large-scale treatment options triggered the ongoing second eradication campaign, the goal of which is to eradicate yaws globally by 2020 (5). References: (1) Giacani, L. & Lukehart, S.A. The endemic treponematoses. Clin. Microbiol. Rev. 27, 89–115 (2014). (2) Arora, N. et al. Origin of modern syphilis and emergence of a pandemic Treponema pallidum cluster. Nat. Microbiol. 2, 16245 (2016). (3) Marks, M. Yaws: towards the WHO eradication target. Trans. R Soc. Trop. Med. Hyg. 110, 319–320 (2016). (4) World Health Organization. Eradication of yaws: procedures for verification and certification of interruption of transmission (World Health Organization, Geneva, 2018). (5) Asiedu, K., Fitzpatrick, C. & Jannin, J. Eradication of yaws: historical efforts and achieving WHO’s 2020 target. PLoS Negl. Trop. Dis. 8, e3016 (2014)

Female chacma baboons form strong, equitable, and enduring social bonds

Analyses of the pattern of associations, social interactions, coalitions, and aggression among chacma baboons (Papio hamadryas ursinus) in the Okavango Delta of Botswana over a 16-year period indicate that adult females form close, equitable, supportive, and enduring social relationships. They show strong and stable preferences for close kin, particularly their own mothers and daughters. Females also form strong attachments to unrelated females who are close to their own age and who are likely to be paternal half-sisters. Although absolute rates of aggression among kin are as high as rates of aggression among nonkin, females are more tolerant of close relatives than they are of others with whom they have comparable amounts of contact. These findings complement previous work which indicates that the strength of social bonds enhances the fitness of females in this population and support findings about the structure and function of social bonds in other primate groups

Assesing use and suitability of scanning electron microscopy in the analysis of micro remains in dental calculus

Dental calculus is increasingly recognized as a major reservoir of dietary information. Palaeodietary studies using plant and animal micro remains (e.g. phytoliths, pollen, sponge spicules, and starch grains) trapped in calculus have the potential to revise our knowledge of the dietary role of plants in past populations. The conventional methods used to isolate and identify these micro remains rely on removing them from their microenvironment in the calculus, thus the microenvironment that traps and preserves micro remains is not understood. By using scanning electron microscopy and energy dispersive X-ray spectroscopy (SEMeEDX) on modern chimpanzee calculus from the Taï Forest, Côte d¿Ivoire, and human calculus from the Chalcolithic site of Camino del Molino, Spain, we present the first reported observations on characteristics of the matrix setting that are conducive to the survival of starch in dental calculus. We also assess the potential for SEMeEDX to detect starch and differentiate it from structurally and molecularly similar substrates. We demonstrate that SEMeEDX may offer a nondestructive technique for studying micro remains in certain contexts. Finally, we compare traditional optical analytical techniques (OM) with less invasive electron microscopy. The results indicate that SEM-EDX and OM are both effective for observing micro remains in calculus, but differ in their analytical resolution to identify different micro remains, and we therefore recommend a sequential use of both techniques

A tissue-specific landscape of sense/antisense transcription in the mouse intestine

<p>Abstract</p> <p>Background</p> <p>The intestinal mucosa is characterized by complex metabolic and immunological processes driven highly dynamic gene expression programs. With the advent of next generation sequencing and its utilization for the analysis of the RNA sequence space, the level of detail on the global architecture of the transcriptome reached a new order of magnitude compared to microarrays.</p> <p>Results</p> <p>We report the ultra-deep characterization of the polyadenylated transcriptome in two closely related, yet distinct regions of the mouse intestinal tract (small intestine and colon). We assessed tissue-specific transcriptomal architecture and the presence of novel transcriptionally active regions (nTARs). In the first step, signatures of 20,541 NCBI RefSeq transcripts could be identified in the intestine (74.1% of annotated genes), thereof 16,742 are common in both tissues. Although the majority of reads could be linked to annotated genes, 27,543 nTARs not consistent with current gene annotations in RefSeq or ENSEMBL were identified. By use of a second independent strand-specific RNA-Seq protocol, 20,966 of these nTARs were confirmed, most of them in vicinity of known genes. We further categorized our findings by their relative adjacency to described exonic elements and investigated regional differences of novel transcribed elements in small intestine and colon.</p> <p>Conclusions</p> <p>The current study demonstrates the complexity of an archetypal mammalian intestinal mRNA transcriptome in high resolution and identifies novel transcriptionally active regions at strand-specific, single base resolution. Our analysis for the first time shows a strand-specific comparative picture of nTARs in two tissues and represents a resource for further investigating the transcriptional processes that contribute to tissue identity.</p