Influence of the right- versus left-sided sleeping position on the apnea-hypopnea index in patients with sleep apnea

Purpose

Sleep and sleep position have a significant impact on physical, cardiac and mental health, and have been evaluated in numerous studies particularly in terms of lateral sleeping positions and their association with diseases. We retrospectively examined the relationship between the sleeping position and position-specific apnea-hypopnea index (AHI) in obstructive sleep apnea-hypopnea (OSA) patients.

Methods

We assessed the sleeping body position and the body position-specific AHI score in patients who were referred for suspected OSA and underwent diagnostic nocturnal polysomnography. In order to eliminate inter-individual differences, only those who had a similar percentage of time spent in the LSSP and RSSP for each patient were enrolled. To provide this validity, only subjects that had a similar percentage of left and right lateral sleep time (±10%) were included in the analysis.

Results

A total of 864 patients had nocturnal diagnostic PSG. Of them, 131 patients met the inclusion criteria. The percent rate spent in the supine sleeping position (SSP) was 31.3?±?18.7%, in the LSSP was 31.8?±?10% and in the RSSP was 32.6?±?10.8%. Whereas the SSP-specific AHI score was the highest with 60.4?±?36.2/h among all the sleeping position-specific AHI scores (p?<?0.001), the LSSP-specific AHI score was statistically higher than that for RSSP (30.2?±?32.6/h vs. 23.6?±?30.1/h; p?<?0.001). When comparing individuals sub-grouped based on OSA severity, there was a statistically significant difference between the LSSP-specific AHI score and RSSP-specific AHI score in patients with severe (p?=?0.002) and moderate (p?=?0.026), but not mild (p?=?0.130) OSA.

Conclusion

We found that the sleeping position had a significant influence on apneic events and RSSP decreased the frequency of obstructive respiratory events in patients with moderate and severe disease.     

What next for preimplantation genetic screening? A clinician's perspective

Preimplantation genetic screening (PGS) is a technique that has been introduced into clinical practice to screen and eliminate aneuploid embryos from transfer with the intention to improve implantation rates and decrease pregnancy wastage. Although practiced widely throughout the world, PGS unfortunately has been adopted without being subjected to rigorous scientific validation. Data from recent randomized trials have shed doubt on the efficacy of the procedure when used in women with advanced age, one of the target populations for PGS. Other purported indications for the application of this complicated technique such as recurrent implantation failure and recurrent spontaneous abortion have not been subjected to randomized controlled trials. For the best interest of patients, we feel it is timely for a debate regarding the efficacy and safety of PGS.     

A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease

Interstitial lung disease (ILD) is a condition affecting the lung parenchyma by inflammation and fibrosis and can be caused by various exposures, connective tissue diseases (CTD), and genetic disorders. In this report, a family with five patients having progressive respiratory failure that begins with coughing in adolescence, followed by dyspnea and recurrent spontaneous pneumothorax, and death in early adulthood is presented. The patients were diagnosed to have ILD through clinical and radiological evaluations. Molecular genetic analyses of the family provided two homozygous rare variants in the WRN and SFXN5 genes, co-segregating with the phenotype. The network analyses pointed out that the variant in the WRN, rather than that in the SFXN5 gene, could be the main factor in the existence of the ILD phenotype, putatively through the altered DNA repair and telomere maintenance pathways. In silico analyses suggested that the variant could affect the exonuclease activity or the stability of the WRN protein. Moreover, the adolescent-onset pulmonary phenotype described in the case has not been reported in Werner Syndrome, the only disease known to be associated with biallelic WRN pathogenic variants. Thus, the present phenotype could be either a very atypical presentation of Werner syndrome or a new clinical entity associated with the WRN gene.     

Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings

Thauvin-Robinet-Faivre syndrome (TROFAS; OMIM #617107) is a rare autosomal recessive overgrowth syndrome characterized by generalized overgrowth, dysmorphic facial features, and delayed psychomotor development caused by biallelic pathogenic variants in the FGF-1 intracellular binding protein (FIBP) gene. To date, only four patients from two families have been reported. In this report, we present a 4-year-old male patient with generalized overgrowth and delayed developmental milestones consistent with this syndrome. In addition, he has unique features that were not reported in previous patients, including drooling, recurrent pulmonary infections, chronic pulmonary disease, hyperextensible elbow joints, hypoplastic nipples, unilateral cryptorchidism, and frequent spontaneous erections. We identified a homozygous, likely pathogenic variant, c.415_416insCAGTTTG (p.Asp139AlafsTer3), which causes a frameshift in the FIBP. Additionally, we identified a homozygous missense variant in the Toll-like receptor 5(TLR5) gene and a hemizygous missense variant in the chloride voltage-gated channel 4 (CLCN4) gene, with uncertain significance in either case. In this article, we set out the new observations and also discuss the frequency of the characteristic findings of the syndrome in the patients so far reported.     

2-Aroyl quinazolinone: Synthesis and in vitro anti-parasitic activity

Trypanosomes and Leishmania are parasitic protozoans that affect millions of people globally. Herein we report the synthesis of 2-aroyl quinazolinones and their antiprotozoal efficacy against Trypanosoma brucei, Trypanosoma brucei rhodesiense, Trypanosoma cruzi, and Leishmania infantum. These compounds were counter-screened against a human cell line for cytotoxicity. Thirteen of the twenty target compounds in this study inhibited the growth of these parasites, with compounds KJ1 , and KJ10 exhibiting IC₅₀ values of 4.7 μM (T. b. brucei) and 1.1 μM (T. b. rhodesiense), respectively.