[Study of the relationship between arousal parameters and daytime sleepiness in patients with obstructive sleep apnea syndrome].

OBJECTIVE: To explore the effect of arousal parameters on excessive daytime sleepiness(EDS) in patients with obstructive sleep apnea syndrome(OSAS). METHODS: A total of 205 patients who underwent polysomnography (PSG) from June 2012 to September 2013 in our hospital were enrolled. They were divided into 3 groups:85 patients in the OSAS sleepiness group (AHI ≥ 5/h, ESS ≥ 9), 86 patients in the OSAS non-sleepiness group (AHI ≥ 5/h, ESS<9), and 34 healthy subjects in the control group (AHI<5 times/h, ESS<9). Patient characteristics and PSG parameters of the 3 groups were analyzed. RESULTS: The difference of age, BMI, ESS, N1+ N2%, N3%, AHI, oxygen desaturation index (ODI), mean oxygen saturation (MSaO2), lowest oxygen saturation (LSaO2), oxygen below 90% of the time (T90%), total arousal index (ARtotI), respiratory arousal index/ARtotI (RAI/ARtotI), spontaneous arousal index/ARtotI (SAI/ARtotI), sleep pressure score (SPS) were statistically different among the 3 groups (P < 0.05). But except for REM% [(15 ± 5)%, (16 ± 6)%, (17 ± 7)%, P > 0.05], the difference of age and BMI between OSAS sleepiness group and OSAS non-sleepiness group were not significant (P > 0.016 7), but the difference of other indices between any 2 groups were significant (P < 0.016 7). ARtotI and SPS were positively correlated with ESS (r = 0.383 and 0.244, P < 0.001). Logistic regression analysis showed that only awakening and SPS were the risk factors for OSAS [OR = 1.070 (95% CI: 1.038 - 1.102) and 0.158 (95% CI: 0.026 - 0.984), respectively]. CONCLUSIONS: Arousal at night is closely associated with EDS in OSAS. ARtotI and SPS can be evaluated as an objective indicator of EDS in OSAS patients.

A Rare Case of Post-Primary Tuberculosis Which Was Pathologically Diagnosed as Lipoid Pneumonia.

Case Presentation: The patient was a middle-aged housewife who had been using the household spray for a long time, and the main symptoms were cough and sputum production. Chest CT showed lobar ground-glass opacities (GGOs) with small patchy consolidation in the right middle lobe (RML), specifically, lung tissue pathology showed a large number of foamy cells and scattered multinucleated giant cells. The patient received empirical anti-infective treatment, but no clinical improvement was observed. Laboratory tests, including smears and cultures of sputum, blood and bronchoalveolar lavage fluid (BALF), did not provide clear evidence for pathogenic microorganisms. Therefore, the presumptive diagnosis was exogenous LP (ExLP). After 28 days of prednisone treatment, her symptoms improved, but 2 months later, she presented with a worsening cough, and the GGOs had progressed into lobar consolidation. Transbronchial lung biopsy (TBLB) culture showed mycobacterium tuberculosis (MTB), and lung tissue pathology showed granulomatous inflammation. After anti-tuberculosis treatment, the consolidation in the right middle lobe was gradually absorbed, along with a considerable symptom improvement. The final diagnosis of the patient was MTB infection with an endogenous lipoid pneumonia (EnLP)-like presentation. Conclusion: The current case highlights that the MTB infection should be considered when pathology shows LP accompanied by scattered multinucleated giant cells.

Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome.

Primary ciliary dyskinesia (PCD), a rare genetic disorder, is mostly caused by defects in more than 40 known cilia structure-related genes. However, in approximately 20-35% of patients, it is caused by unknown genetic factors, and the inherited pathogenic factors are difficult to confirm. Kartagener syndrome (KTS) is a subtype of PCD associated with situs inversus, presenting more complex genetic heterogeneity. The aim of this study was to identify pathogenic mutations of candidate genes in Chinese patients with KTS and investigate the activation of the heterotaxy-related NOTCH pathway. Whole-exome sequencing was conducted in five patients with KTS. Pathogenic variants were identified using bioinformatics analysis. Candidate variants were validated by Sanger sequencing. The expression of the NOTCH pathway target genes was detected in patients with KTS. We identified 10 KTS-associated variants in six causative genes, namely, CCDC40, DNAH1, DNAH5, DNAH11, DNAI1, and LRRC6. Only one homozygote mutation was identified in LRRC6 (c.64dupT). Compound heterozygous mutations were found in DNAH1 and DNAH5. Six novel mutations were identified in four genes. Further analyses showed that the NOTCH pathway might be activated in patients with KTS. Overall, our study showed that compound heterozygous mutations widely exist in Chinese KTS patients. Our results demonstrated that the activation of the NOTCH pathway might play a role in the situs inversus pathogenicity of KTS. These findings highlight that Kartagener syndrome might be a complex genetic heterogeneous disorder mediated by heterozygous mutations in multiple PCD- or cilia-related genes.