GOLD criteria overestimate airflow limitation in one-third of cases in the general Finnish population

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Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

Background: A deficiency of muscle phosphofructokinase (PFKM) causes a rare metabolic muscle disease, the Tarui disease (Glycogen storage disease type VII, GSD VII) characterized by exercise intolerance with myalgia due to an inability to use glucose as an energy resource. No medical treatment for GSD VII currently exists. The aim of this study was to determine whether a dietary intervention with excessive fat intake would benefit GSD VII.Patient and Methods: A ketogenic diet (KD) intervention implemented as a modified Atkins diet was established for one patient with PFKM deficiency, with a low late lactate response and very high ammonia levels associated with exercise. We recorded the KD intervention for a total of 5 years with clinical and physiotherapeutic evaluations and regular laboratory parameters. Cardiopulmonary exercise testing, including breath gas analysis and venous lactate and ammonia measurements, was performed before KD and at 3, 8 months and 5 years after initiation of KD.Results: During the 5 years on KD, the patient's muscle symptoms had alleviated and exercise tolerance had improved. In exercise testing, venous ammonia had normalized, the lactate profile remained similar, but oxygen uptake and mechanical efficiency had increased and parameters showing ventilation had improved.Conclusions: This study is the first to show a long-term effect of KD in GSD VII with an alleviation of muscle symptoms, beneficial effects on breathing, and improvement in exercise performance and oxygen uptake. Based on these findings, KD can be recommended under medical and nutritional supervision for selected patients with GSD VII, although further research of this rare disease is warranted.Peer reviewe

Large lungs may predict increased air trapping in navy divers

Navy divers tend to have large lungs and low expiratory flow rates in the terminal portion of a spirogram. We examined Finnish Navy divers for the presence of air trapping, airway obstruction, and functional airway compression, and their association with lung volumes. Divers (n = 57) and non-diving men (n = 10) underwent a variety of pulmonary function tests. The amount of trapped air was calculated as the subtraction of the total lung capacity (TLC) measured in a single-breath helium dilution test from the TLC in body plethysmography (TLCb). Mean vital capacity (VC) was 6.4 L in the divers versus 5.8 L in the controls (p = 0.006) and TLCb 8.9 L in the divers versus 8.1 L in the controls (p = 0.002). No difference existed between them in the amount of trapped air. However, we found break points in a linear regression model (Davies test) between trapped air and several pulmonary parameters. Those individuals above the break points had lower ratio of forced expiratory volume in first second to forced vital capacity, lower resistance of airways, and higher reactance than those below the break points. In conclusion, navy divers had larger lungs than controls. Large lung volumes (VC >7.31 L or >122% of predicted value) were associated with air trapping. Furthermore, large volumes of air trapping (>1.1 L) were associated with increased residual volume (RV) and RV/TLCb. Despite no concurrent obstruction, functional airway compression, or reduced diffusing capacity, this slowly ventilated trapped air might remain disadvantageous for divers.Peer reviewe

Smoking, environmental tobacco smoke and occupational irritants increase the risk of chronic rhinitis

Background: Allergic and non-allergic rhinitis cause a lot of symptoms in everyday life. To decrease the burden more information of the preventable risk factors is needed. We assessed prevalence and risk factors for chronic nasal symptoms, exploring the effects of smoking, environmental tobacco smoke, exposure to occupational irritants, and their combinations. Methods: In 2016, a postal survey was conducted among a random population sample of 8000 adults in Helsinki, Finland with a 50.5% response rate. Results: Smoking was associated with a significant increase in occurrence of chronic rhinitis (longstanding nasal congestion or runny nose), but not with self-reported or physician diagnosed allergic rhinitis. The highest prevalence estimates of nasal symptoms, 55.1% for chronic rhinitis, 49.1% for nasal congestion, and 40.7% for runny nose, were found among smokers with occupational exposure to gases, fumes or dusts. Besides active smoking, also exposure to environmental tobacco smoke combined with occupational exposure increased the risk of nasal symptoms. Conclusions: Smoking, environmental tobacco smoke, and occupational irritants are significant risk factors for nasal symptoms with an additive pattern. The findings suggest that these factors should be systematically inquired in patients with nasal symptoms for appropriate preventive measures. (192 words).Peer reviewe

Hotspot Mutations Detectable by Next-generation Sequencing in Exhaled Breath Condensates from Patients with Lung Cancer

Background: Genetic alterations occurring in lung cancer are the basis for defining molecular subtypes and essential for targeted therapies. Exhaled breath condensate (EBC) is a form of non-invasive sample that, amongst components, contains DNA from pulmonary tissue. Nextgeneration sequencing (NGS) was herein used to analyze mutations in EBC from patients with lung cancer. Materials and Methods: EBC was collected from 26 patients with cancer and 20 healthy controls. Amplicon-based sequencing using Ion Ampliseq Colon and Lung Cancer gene panel v2 was applied. Results: The sequencing was successful in 17 patients and 20 controls. EBC from patients revealed 39 hotspot mutations occurring in: adenomatous polyposis coli (APC), v-raf murine sarcoma viral oncogene homolog B (BRAE), discoidin domain receptor tyrosine kinase 2 (DDR2), epidermal growth factor receptor (EGFR), erb-b2 receptor tyrosine kinase 4 (ERBB4), F-box and WD repeat domain containing 7 (FBXW7), fibroblast growth factor receptor 1 (FGER1), FGFR3 (fibroblast growth factor receptor 3), Kirsten rat sarcoma viral oncogene homolog (KRAS), mitogen-activated protein kinase kinase 1 (MAP2K1), met proto-oncogene (MET), neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), phosphatase and tensin homolog (PTEN), ret proto-oncogene (RET), SMAD family member 4 (SMAD4), serine/threonine kinase 11 (STK11), and tumorprotein p53 (TP53) genes. EBC from controls revealed 35 hotspot mutations. The average mutant allele fraction was higher in patients than controls. Conclusion: NGS can identify mutations in EBCs from patients with lung cancer. This could provide a promising non-invasive method for the assessment of gene mutations in lung cancer.Peer reviewe

The increase of asthma prevalence has levelled off and symptoms decreased in adults during 20 years from 1996 to 2016 in Helsinki, Finland

Background: Mortality and hospitalization due to asthma have decreased in many European countries, but asthma symptoms still cause a lot of morbidity and costs. Objectives: We evaluated prevalence trends of asthma, asthma symptoms and allergic rhinoconjunctivitis in adults aged 20-69 years during a 20-year period from 1996 to 2016 in the city of Helsinki, the capital of Finland. Methods: Three cross-sectional postal surveys were conducted in random population samples 10 years apart. In 1996, 2006 and 2016, a total of 6062 (response rate 75.9%), 2449 (61.9%) and 4026 subjects (50.3%) took part, respectively. Results: In all responders, the prevalence of physician-diagnosed asthma was 6.6% in 1996, 10% in 2006 and 10.9% in 2016. The prevalence increased from 1996 to 2006, but stabilized from 2006 to 2016, both in men and women and in smokers and non-smokers. The prevalence of current asthma (8.5% in 2006 and 8.8% in 2016) and of asthma with rhinoconjunctivitis (7.6% in 2006 and 7.5% in 2016) remained also at the same level. Allergic rhinoconjunctivitis decreased significantly from 2006 (42.7%) to 2016 (39.0%, p=0.004). Those with physician diagnosed asthma reported significantly less symptoms in 2016 compared to 2006 and 1996, although there was no change in smoking habits or medication use. Young asthmatics (20-29 years) without rhinoconjunctivitis reported least symptoms. Conclusion: Previously observed increase of physician-diagnosed asthma prevalence in adults seems to be levelling off in Helsinki, and patients have fewer symptoms than 20 years ago. In addition, allergic rhinoconjunctivitis is less frequent than 10 years earlier. (247 words).Peer reviewe

Spirometrian suorittaminen ja tulkinta : uudet suomalaiset ja monikansalliset viitearvot käyttöön - Suomen Kliinisen Fysiologian yhdistyksen ja Suomen Keuhkolääkäriyhdistyksen suositus 2015

•Hil­jattain on jul­kaistu uu­det suoma­laiset ai­kuisten spi­ro­metrian vii­tearvot, joi­den mit­taukset kat­tavat myös vanhus­väestön 84 vuo­den ikään as­ti. •Uu­sien ar­vojen tulkin­nassa otetaan käyt­töön mi­tatun ar­von poik­keaman mää­rä viitear­vo­po­pu­laation ­kes­kiar­vosta z-yksik­köinä (sama kuin SD). Muu­toksen vaikeu­saste ar­vioidaan z-ar­von mu­kaan. •Nor­maalin va­riaation ala­raja on klii­ni­sissä tutki­muk­sissa kai­kille spi­ro­met­ria­muut­tu­jille sa­ma (z-ar­vona –1,65). Ter­veistä 95 % asettuu tä­män ra­jan ylä­puo­lelle. •Syn­ty­pe­rältään ulko­maa­laisten las­ten ja ai­kuisten tutki­muk­sissa suosi­tellaan käytet­tä­väksi uu­sia kansain­vä­lisiä GLI2012-vii­tear­voja. •Suo­ma­laisten las­ten tutki­muk­sissa suosi­tellaan käytet­tä­väksi edelleen van­hoja suoma­laisia viitear­voja, mut­ta nii­den klii­ni­sessä sovel­ta­mi­sessa suosi­tellaan nyt z-ar­vojen käyt­töä. •Ai­kuisten van­hat suoma­laiset vii­tearvot ei­vät ole perus­tuneet todel­lisiin mittaus­tu­loksiin yli 64-vuo­tiailla. Van­hojen ar­vojen käyt­tö on aiheut­tanut toden­nä­köi­sesti hengi­tys­tieobst­ruktion yli­diag­nos­tiikkaa vanhem­missa ikä­ryh­missä.Peer reviewe

Lihavuus vaikeuttaa keuhkosairauksia

Vertaisarvioitu.• Uniapnean, obesiteetti-hypoventilaatio-oireyhtymän (OHS), astman ja keuhkoahtaumataudin liitännäissairauksissa lihavuus on yksi merkittävimmistä riskitekijöistä. • Uniapnea- ja OHS-potilaiden hoidossa painonhallinnan tulee aina olla keskeinen osa hoitoa. • Lihavuus lisää hengitysoireilua, huonontaa astmatasapainoa sekä lisää pahenemisvaiheita astma- ja keuhkoahtaumapotilailla. • Laihduttaminen parantaa keuhkoahtaumapotilaiden elämänlaatua.Peer reviewe

Reduction of FENO by tap water and carbonated water mouthwashes : magnitude and time course

Fractional exhaled nitric oxide (F-ENO) assesses eosinophilic inflammation of the airways, but F-ENO values are also influenced by oral nitric oxide (NO). The aim of this pilot study was to measure F-ENO and compare the effect of two different mouthwashes on F-ENO and analyse the duration of the effect. F-ENO was measured in 12 randomized volunteers (healthy or asthmatic subjects) with a NIOX VERO (R) analyser at an expiratory flow rate of 50mL/s. After a baseline measurement, a mouthwash was performed either with tap water or carbonated water and was measured during 20min in 2min intervals. The procedure was repeated with the other mouthwash. We found that both mouthwashes reduced F-ENO immediately at the beginning compared to the baseline (pPeer reviewe