Pneumocystis jirovecii pneumonia in a X-linked chronic granulomatous disease female carrier.

The X-chromosome linked (XL) female carriers of chronic granulomatous disease (CGD) are considered to have no risk for infection. Herein we present a female CGD XL-carrier who developed Pneumocystis jirovecii pneumonia and Serratia marcescens infection associated with age-related skewing of X-chromosome inactivation.

Hooking of the soft palate and a large cervical osteophyte: two troubles in the same airway.

We report a case of severe obstructive sleep apnea in a 72-year-old, thin male caused by upper airway obstruction due to an enlarged cervical osteophyte at the C2-C3 level in association with a hooking of the soft palate. This is the first reported case with magnetic resonance imaging recognizing 2 simultaneously existing unusual obstructive causes: the oropharynx (hooking palate) and the hypopharynx (large cervical osteophyte).

CPAP therapy in patients with idiopathic pulmonary fibrosis and obstructive sleep apnea: does it offer a better quality of life and sleep?

BACKGROUND: The recent literature shows an increased incidence of obstructive sleep apnea (OSA) in patients with idiopathic pulmonary fibrosis (IPF). On the other hand, there are no published studies related to continuous positive airway pressure (CPAP) treatment in this patient group. Our aim was to assess the effect of CPAP on sleep and overall life quality parameters in IPF patients with OSA and to recognize and overcome possible difficulties in CPAP initiation and acceptance by these patients. METHODS: Twelve patients (ten males and two females, age 67.1 ± 7.2 years) with newly diagnosed IPF and moderate to severe OSA, confirmed by overnight attended polysomnography, were included. Therapy with CPAP was initiated after a formal in-lab CPAP titration study. The patients completed the Epworth Sleepiness Scale (ESS), the Pittsburgh Sleep Quality Index (PSQI), the Functional Outcomes in Sleep Questionnaire (FOSQ), the Fatigue Severity Scale (FSS), the SF-36 quality of life questionnaire, and the Beck Depression Inventory (BDI) at CPAP initiation and after 1, 3, and 6 months of effective CPAP therapy. RESULTS: A statistically significant improvement was observed in the FOSQ at 1, 3, and 6 months after CPAP initiation (baseline 12.9 ± 2.9 vs. 14.7 ± 2.6 vs. 15.8 ± 2.1 vs. 16.9 ± 1.9, respectively, p = 0.02). Improvement, although not statistically significant, was noted in ESS score (9.2 ± 5.6 vs. 7.6 ± 4.9 vs. 7.5 ± 5.3 vs. 7.7 ± 5.2, p = 0.84), PSQI (10.7 ± 4.4 vs. 10.1 ± 4.3 vs. 9.4 ± 4.7 vs. 8.6 ± 5.2, p = 0.66), FSS (39.5 ± 10.2 vs. 34.8 ± 8.5 vs. 33.6 ± 10.7 vs. 33.4 ± 10.9, p = 0.44), SF-36 (63.2 ± 13.9 vs. 68.9 ± 13.5 vs. 72.1 ± 12.9 vs. 74.4 ± 11.3, p = 0.27), and BDI (12.9 ± 5.5 vs. 10.7 ± 4.3 vs. 9.4 ± 4.8 vs. 9.6 ± 4.5, p = 0.40). Two patients had difficulty complying with CPAP for a variety of reasons (nocturnal cough, claustrophobia, insomnia) and stopped CPAP use after the first month, despite intense follow-up by the CPAP clinic staff. Heated humidification was added for all patients in order to improve the common complaint of disabling nocturnal cough. CONCLUSION: Effective CPAP treatment in IPF patients with OSA results in a significant improvement in daily living activities based on the FOSQ, namely an OSA-specific follow-up instrument. Improvement was also noted in other questionnaires assessing quality of life, though not to a statistically significant degree, probably because of the multifactorial influences of IPF on physical and mental health. The probability of poor CPAP compliance was high and could only be eliminated with intense follow-up by the CPAP clinic staff.

Decreased apoptotic rate of alveolar macrophages of patients with idiopathic pulmonary fibrosis.

Introduction. Increased apoptosis of epithelial cells and decreased apoptosis of myofibroblasts are involved in the pathogenesis of IPF. The apoptotic profile of alveolar macrophages (AMs) in IPF is unclear. Aim. To investigate whether AMs of patients with IPF exhibit a different apoptotic profile compared to normal subjects. Methods. We analyzed, by immunohistochemistry, the expression of the apoptotic markers fas, fas ligand , bcl-2, and bax in AM obtained from bronchoalveolar lavage fluid (BALF) of 20 newly diagnosed, treatment-naive IPF patients and of 16 controls. Apoptosis of AM was evaluated by Apoptag immunohistochemistry. IPF patients received either interferon-g and corticosteroids or azathioprine and corticosteroids for six months. Results. BALF AMs undergoing apoptosis were significantly less in IPF patients. No difference was found in the expression of fas or fas ligand, bcl-2 and bax between IPF and control group. No difference was found between the respiratory function parameters of the two treatment groups after six months. A positive correlation was found between the number of bcl-2 positive stained macrophages and DLCO after treatment. Conclusions. The decreased apoptotic rate of AM of patients with IPF is not associated with decreased expression of apoptosis mediators involved in the external or internal apoptotic pathway.

CRP evolution pattern in CPAP-treated obstructive sleep apnea patients. Does gender play a role?

BACKGROUND-AIM: C-reactive protein (CRP) is directly implicated in atherogenesis and associated cardiovascular morbidity in patients with obstructive sleep apnea (OSA). Effective continuous positive airway pressure (CPAP) treatment has been shown to gradually decrease CRP levels and thus consequently improve disease-related cardiovascular morbidity. However, the influence of gender on the CRP evolution pattern has never been assessed before. The aim of our study was to investigate possible gender differences in CRP evolution in OSA patients 3 and 6 months after the start of effective CPAP treatment. METHODS: The study population consisted of 436 patients (252 males/184 females) with newly diagnosed moderate to severe OSA and good CPAP compliance assessed by a thorough follow up. High-sensitivity C-reactive protein (hs-CRP) was assessed before CPAP initiation and at the third and sixth month of the follow-up period. RESULTS: C-reactive protein values showed a statistically significant decrease at the third and sixth month of CPAP therapy [initial values 0.79 ± 0.65 mg/dL versus 0.70 ± 0.52 mg/dL (p < 0.05) after 3 months and 0.30 ± 0.33 mg/dL (p < 0.001) after 6 months of CPAP therapy]. When patients were divided into males and females, the above evolution pattern was changed. At the third month time point, the CRP values showed a statistically significant decrease only in males (from 0.74 ± 0.53 mg/dL to 0.61 ± 0.5 mg/dL, p < 0.01) while females showed only minimal and insignificant changes (from 0.87 ± 0.79 mg/dL to 0.83 ± 0.51 mg/dL, p > 0.05). After 6 months' treatment, CRP decreased significantly in both genders (males from 0.74 ± 0.53 mg/dL to 0.28 ± 0.32 mg/dL, p < 0.001 and females from 0.87 ± 0.79 mg/dL to 0.34 ± 0.36 mg/dL, p < 0.001). CONCLUSION: Our results suggest a delay in the normalization of CRP levels in females despite effective CPAP treatment. A time period of at least 6 months appeared to be required in women in order to reduce CRP levels and consequent cardiovascular risk. In contrast, CPAP's protective role in males is achieved at an earlier time point. Gender-related hormonal and genetic factors may influence the above CRP evolution pattern.

How common is sleep-disordered breathing in patients with idiopathic pulmonary fibrosis?

BACKGROUND AND AIM: The frequency of obstructive sleep apnea-hypopnea syndrome (OSAHS) in patients with idiopathic pulmonary fibrosis (IPF) remains controversial. The aim of this study was to assess the frequency of OSAHS in newly diagnosed IPF patients and to identify possible correlations with body mass index and pulmonary function testing parameters. MATERIALS AND METHODS: Thirty-four newly diagnosed IPF patients were included. All subjects underwent attended overnight PSG. None of the included subjects was under any of the currently available IPF treatments or nocturnal supplemental oxygen therapy. RESULTS: Total apnea-hypopnea index (AHI) was <5, 5-15, and ≥ 15/h of sleep in 14 (41%), 15 (44%), and five patients (15%), respectively. REM AHI was statistically significant correlated with TLC [Total lung capacity] (p=0.03, r= -0.38). Diffusing capacity of the lung for carbon monoxide was correlated with mean oxygen saturation during sleep (p=0.02, r=0.39). CONCLUSIONS: Sleep-disordered breathing seems frequent, although remains usually under diagnosed in IPF patients. A decrease in TLC, reflecting the severity of pulmonary restriction, might predispose IPF patients in SDB, especially during the vulnerable REM sleep period.

Sleep-related breathing disorders in patients with idiopathic pulmonary fibrosis.

Idiopathic pulmonary fibrosis (IPF) is a chronic and usually fatal lung disease of unknown etiology. The aim of this study was to describe clinical and polysomnographic features of sleep-related breathing disorders (SRBD) and to identify predictors of obstructive sleep apnea (OSA) in IPF patients. Eight hundred fifty-seven patients with IPF were admitted to the Cleveland Clinic from 2001 to 2005. An all-night polysomnogram (PSG) was performed in 18 of them to investigate complaints suggestive of sleep-disordered breathing. OSA was confirmed in 11 of the 18 IPF patients with complaints suggestive of sleep apnea, while the remain 7 patients had a diagnosis of primary snoring or upper airway resistance syndrome (UARS). All patients showed a reduction in sleep efficiency, REM sleep, and slow wave sleep. The apnea-hypopnea index (AHI) was positively correlated with body mass index (p < 0.0001, r = 0.80). The REM AHI and overall AHI were negatively correlated with FEV(1) (p = 0.008, r = -0.59 and p = 0.04, r = -0.49, respectively) and FVC percentages (p = 0.03, r = -0.50 and p = 0.08, r = -0.42, respectively). Our study is the first describing SRBD in IPF patients. An increased BMI and a significant impairment in pulmonary function testing may be predictors of OSA in this population. In the absence of effective treatments for IPF, the diagnosis and treatment of comorbid SRBD may lead to improvements in quality of life.