Gulfer Okumus

Sleep apnea in adult myotonic dystrophy patients who have no excessive daytime sleepiness

PurposeSleep apnea is common in myotonic dystrophy (MD) and may cause respiratory failure. Most of the sleep studies have been performed in patients with excessive daytime sleepiness (EDS), which is a characteristic and strong predictor of sleep apnea. Therefore, we investigated the prevalence of sleep apnea in adult MD patients who have no EDS.Materials and methodsEpworth Sleepiness Scale was used to exclude EDS and a score over 10 was accepted as an indicator of EDS. Sleep studies of 17 adult MD patients with the Epworth sleepiness scale score ≤10 were retrospectively reviewed. Spirometry (n = 16) and daytime arterial blood gasses were used to evaluate the relationship with nocturnal parameters.ResultsOn admission to the outpatient chest clinic, seven patients had normal spirometry, and ten had daytime hypercapnia and/or hypoxemia. All but one had sleep apnea (apnea–hypopnea index ≥5 events/h of sleep; mild in five, moderate in seven, and severe in four). Hypopneas were more common than apneas (16.9 ± 13.2 events/h vs. 4.6 ± 4.1events/h). Nocturnal desaturation episodes were very frequent (oxygen desaturation index, 19.7 ± 20.3/h of sleep). Three patients had central sleep apnea and 13 had obstructive sleep apnea. Body mass index, spirometry parameters (FVC and FEV1) and arterial oxygen tension were moderately correlated with nocturnal oxygenation parameters. Apnea–hypopnea index showed moderate correlation with spirometry parameters (FVC and FEV1).ConclusionSleep apnea and oxygen desaturations are very common in MD patients who report no excessive daytime sleepiness. Daytime lung function parameters are not sufficiently reliable for screening sleep apnea. Therefore, we recommend routine polysomnography in MD patients.

HEREDITARY THROMBOPHILIC RISK FACTORS AND VENOUS THROMBOEMBOLISM IN ISTANBUL, TURKEY: THE ROLE IN DIFFERENT CLINICAL MANIFESTATIONS OF VENOUS THROMBOEMBOLISM

The aim of this study was to investigate the hereditary thrombophilic risk factors in patients with venous thromboembolism (VTE) and whether these risk factors play a different role in patients with isolated pulmonary embolism (PE) as compared with patients with deep vein thrombosis (DVT) and patients with PE + DVT. The protein C (PC), protein S, antithrombin activities, homocysteine levels, and factor V Leiden (FVL) G1691A and prothrombin G20210A mutations were evaluated in 191 patients with VTE and 191 controls. The prevalence of FVL and PC deficiency were higher in patients (P = .003 and P = .02, respectively). There was no significant difference for the other risk factors. The combination of thrombophilic risk factors was significantly higher in patients with DVT + PE as compared with patients with isolated PE or DVT (P = .04). In conclusion, the most important hereditary risk factors for VTE in this study were the FVL mutation and PC deficiency.

Epidemiology and distribution of interstitial lung diseases in Turkey

There is very few data on the epidemiological features of interstitial lung diseases (ILD) in the literature. These studies on this subject suffer from limited number of patients.

Clinical Predictors of Obesity Hypoventilation Syndrome in Obese Subjects With Obstructive Sleep Apnea

BACKGROUND: Arterial blood gas (ABG) analysis is not a routine test in sleep laboratories due to its invasive nature. Therefore, the diagnosis of obesity hypoventilation syndrome (OHS) is underestimated. We aimed to evaluate the differences in subjects with OHS and pure obstructive sleep apnea (OSA) and to determine clinical predictors of OHS in obese subjects. METHODS: Demographics, body mass index (BMI), Epworth Sleepiness Scale score, polysomnographic data, ABG, spirometric measurements, and serum bicarbonate levels were recorded. RESULTS: Of 152 obese subjects with OSA (79 females/73 males, mean age of 50.3 ± 10.6 y, BMI of 40.1 ± 5.6 kg/m2, 51.9% with severe OSA), 42.1% (n = 64) had OHS. Subjects with OHS had higher BMI (P = .02), neck circumference (P < .001), waist circumference (P < .001), waist/hip ratio (P = .02), Epworth Sleepiness Scale scores (P = .036), ABG and serum bicarbonate levels (P < .001), apnea-hypopnea index (P = .01), oxygen desaturation index (P < .001), and total sleep time with SpO2 < 90% (P < .001) compared with subjects with pure OSA (n = 88). They also had lower daytime PaO2 (P < .001), sleep efficiency (P = .032), mean SpO2 (P < .001), and nadir SpO2 (P < .001). Serum bicarbonate levels and nadir SpO2 were the only independent predictive factors for OHS. A serum bicarbonate level of ≥ 27 mmol/L as the cutoff gives a satisfactory discrimination for the diagnosis of OHS (sensitivity of 76.6%, specificity of 74.6%, positive predictive value of 54.5%, negative predictive value of 88.9%). A nadir SpO2 of < 80% as the cutoff gives a satisfactory discrimination for the diagnosis of OHS (sensitivity of 82.8%, specificity of 54.5%, positive predictive value of 56.9%, negative predictive value of 81.4%). When we used a serum bicarbonate level of ≥ 27 mmol/L and/or a nadir SpO2 of < 80% as a screening measure, only 3 of 64 subjects with OHS were missed. CONCLUSIONS: Serum bicarbonate level and nadir saturation were independent predictive factors for the diagnosis of OHS.

Extrapulmonary involvement in patients with sarcoidosis in Turkey

Background and objective:  Extrapulmonary sarcoidosis is common, and is almost always associated with concomitant thoracic involvement. Extrapulmonary manifestations vary on the basis of gender, age at presentation and ethnicity. The aim of this study was to investigate extrapulmonary involvement in patients with sarcoidosis in Turkey.

Platelet glycoprotein Ia 807C/T and 873G/A polymorphisms in patients with venous thromboembolism.

Two silent polymorphisms (807C/T and 873G/A) within glycoprotein Ia (GPIa) gene have been implicated in increased risk of developing thrombosis and myocardial infarction in affected individuals. The aim of this study was to investigate the GPIa gene polymorphism in patients with venous thromboembolism (VTE). A multiplexed allele specific-polymerase chain reaction (AS-PCR)–based method was used to determine the GPIa 807T/873A allele frequency in 77 patients with VTE and 106 healthy controls. The allelic frequency for 807T/873A was 33% in the patient group and 38% in the control group. The allelic frequency for 807C/873G was 66% in the patient group and 62% in the control group. The genotypic frequencies were 8% for 807TT/873AA, 42% for 807CC/GG, and 50% for 807CT/GA in the patient group. In the control group, the frequencies were 12% for 807TT/873AA, 35% for 807CC/873GG, and 52% for 807CT/873GA. As a result, the glycoprotein Ia 807C/T and 873G/A dimorphisms were not shown as risk factors for VTE.

Isolated Laryngo-tracheal Amyloidosis Presenting as a Refractory Asthma and Longstanding Hoarseness

Respiratory tract amyloidosis is characterized by deposition of amyloid fibril protein at any site along the respiratory tract ranging from the larynx to the pulmonary parenchyma. Usually, it is not associated with primary systemic amyloidosis. We report a case with isolated laryngotracheal amyloidosis, which is relatively a rare condition, together with a history of refractory asthma accompanied with longstanding hoarseness.

Follow-up of 1887 patients receiving tumor necrosis-alpha antagonists: Tuberculin skin test conversion and tuberculosis risk

To evaluate the characteristics of patients who developed tuberculosis while receiving tumor necrosis factor‐alpha (TNF‐α) antagonists and the related factors with tuberculosis.

Respiratory muscle strength in patients with pulmonary hypertension: The relationship with exercise capacity, physical activity level, and quality of life.

Pulmonary hypertension (PH) is characterized by exertional dyspnea, fatigue, chest pain, dizziness, and syncope. Physical activity, peripheral, and respiratory muscle strength reduces in pateints with PH. Little is known about respiratory muscle weakness and related outcomes.

The role of an activity monitor in the objective evaluation of patients with pulmonary hypertension

Patients with pulmonary hypertension (PH) show no symptoms at rest, but symptoms are triggered by physical activities.