Multidrug resistance tuberculosis - current problems

Wzrastająca zapadalność na gruźlicę wielolekooporną, czyli gruźlicę z opornością co najmniej na rifampicynę i izoniazyd, jest poważnym światowym problemem. Leczenie gruźlicy wielolekoopornej lekami drugiego wyboru jest związane z wieloma efektami ubocznymi i długim okresem terapii; jest też bardzo drogie i niejednokrotnie kończy się niepowodzeniem. W celu osiągnięcia dobrej kontroli gruźlicy niezbędne jest postępowanie zgodnie ze strategią DOTS i DOTS-Plus.The rising occurrence of multidrug-resistant tuberculosis (MDR-TB), defined as resistance to at least isoniazid and rifampicin, is a serious worldwide problem. The treatment of MDR-TB with alternative chemotherapy is difficult due to side-effects and treatment duration. It is also very expensive and sometimes unsuccessful. DOTS and DOTS-Plus strategy are necessary to achieve a good tuberculosis control

Nowe możliwości diagnostyki utajonego zakażenia prątkiem gruźlicy

So far the only metod of diagnostic assessment of tubercle bacillus infection was a skin tuberculin reaction - but it has low specificity and sensitivity. The article discusses the new tests in the diagnosis of a latent phase of tuberculosis infection and the active form of the disease based on the measurement of interferon gamma (IFN-γ) released by lymphocyte T after the stimulation by antigens which are specific for M. tuberculosis: ESAT-6, CFP-10. The sensitivity and specificity of QuantiFERON-TB Gold and T-SPOT.TB tests in diagnosis of infection as well as in active form of disease, comparison between the results of tuberculin skin test and the results obtained by the new tests, and problem of incompatibility of results obtained thanks to those tests are discussed.Dotychczas jednym z ważnych narzędzi diagnostycznych zakażenia prątkiem gruźlicy był skórny odczyn tuberkulinowy - jest on jednak mało swoisty i mało czuły. W niniejszym artykule omówiono nowe testy w diagnostyce utajonej infekcji gruźliczej oraz czynnej postaci choroby. Zasada ich działania opiera się na pomiarze interferonu gamma (IFN-γ) wydzielanego przez limfocyty T po stymulacji przez antygeny swoiste dla prątka gruźlicy: ESAT-6, CFP-10. Omówiono czułość i swoistość testów QuantiFERON-TB Gold oraz T-SPOT.TB zarówno w zakażeniu, jak i w czynnej postaci choroby, porównanie ich z tuberkulinowym testem skórnym oraz problem niezgodności wyników otrzymanych za pomocą tych testów

Neurofibromatosis type 1 in an adult diagnosed by a pulmonologist

Nerwiakowłókniakowatość typu 1 jest częstą chorobą genetyczną wynikającą z braku białka neurofibrominy i w konsekwencji prowadzącą do różnych nieprawidłowości w obrębie obwodowego i ośrodkowego układu nerwowego, a także w innych narządach. Najczęściej rozpoznawana jest przez pediatrów w wieku dziecięcym. Zdarza się, że pozostaje nierozpoznana lub rozpoznana dopiero w wieku dorosłym. W niniejszej pracy przedstawiamy 32-letnią chorą, u której nerwiakowłókniakowatość typu 1 rozpoznano po skierowaniu jej do pulmonologa z podejrzeniem guza płuca lewego. Chorą przyjęto do Kliniki Pulmonologii do diagnostyki zacienienia w lewym płucu, stwierdzonego w badaniu rentgenowskim klatki piersiowej. W badaniu przedmiotowym stwierdzono na skórze ciała kilka plamistych przebarwień oraz guzków, które histologicznie okazały się nerwiakowłókniakami. Dalsza diagnostyka, obejmująca TK i PET klatki piersiowej oraz badanie okulistyczne, pozwoliła na rozpoznanie nerwiakowłókniakowatości typu 1.Neurofibromatosis type 1 (NF1), referred to as von Recklinghausen’s disease, is a genetic disorder triggered by mutation of the NF1 gene, resulting in a lack of neurofibromin, which leads to abnormalities found in the peripheral nervous system and central nervous system, as well as in other organs. The disease is diagnosed early, usually in childhood by pediatricians. However, in some cases, the disease is clinically silent and remains undiagnosed or is recognized in the late adulthood. We report a case study of a 32-year-old female, who was referred to the pulmunologist with a suspicion of a lung tumor. The patient was admitted to the Pulmonology Department to investigate further the subpleural mass localized in the left lung found by chance in a chest X-ray. Physical examination revealed café-au-lait spots on her skin, several subcutaneous nodules which were confirmed by a histopathology to be consistent with neurofibroma. Further diagnostic testing, such as chest CT, PET and ophthalmological examination, led to diagnosis of neurofibromatosis type 1 with pulmonary involvement

Arterial and venous thromboembolism in chronic obstructive pulmonary disease: from pathogenic mechanisms to prevention and treatment

Chronic obstructive pulmonary disease (COPD) affects approximately 10% of adults older than 40 years and is an important causes of disability and death in elderly subjects. A large proportion of COPD patients suffer from cardiovascular comorbidities. Thromboembolic events contribute considerably to morbidity and mortality in these subjects. This review summarizes the current evidence regarding the association of COPD with increased thromboembolic risk. We discuss multiple mechanisms potentially linking these conditions and available pharmacological interventions reducing the risk of thrombotic arterial and venous events with special attention paid to new oral anticoagulants.Chronic obstructive pulmonary disease (COPD) affects approximately 10% of adults older than 40 years and is an important causes of disability and death in elderly subjects. A large proportion of COPD patients suffer from cardiovascular comorbidities. Thromboembolic events contribute considerably to morbidity and mortality in these subjects. This review summarizes the current evidence regarding the association of COPD with increased thromboembolic risk. We discuss multiple mechanisms potentially linking these conditions and available pharmacological interventions reducing the risk of thrombotic arterial and venous events with special attention paid to new oral anticoagulants

Adult form of Pompe disease

Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid a-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased. The infantile form is usually fatal. In the adult form of the disease the prognosis is relatively good. Muscle weakness may, however, interfere with normal daily activities, and respiratory insufficiency may be associated with obstructive sleep apnea. Death usually results from respiratory failure. Effective specific treatment is not available. Enzyme replacement therapy with recombinant human GAA (rh-GAA) still remains a research area. We report the case of a 24-year-old student admitted to the Department of Pulmonary Diseases because of severe respiratory insufficiency. Clinical symptoms such as dyspnea, muscular weakness and increased daytime sleepiness had been progressing for 2 years. Clinical examination and increased blood levels of CK suggested muscle pathology. Histopathological analysis of muscle biopsy, performed under electron microscope, confirmed the presence of vacuoles containing glycogen. Specific enzymatic activity of a-glucosidase was analyzed confirming Pompe disease. The only effective method to treat respiratory insufficiency was bi-level positive pressure ventilation. Respiratory rehabilitation was instituted and is still being continued by the patient at home. A high-protein, low-sugar diet was proposed for the patient. Because of poliglobulia, low molecular weight heparin was prescribed. The patient is eligible for experimental replacement therapy with rh-GAA

Wpływ spalania biomasy i narażeń zawodowych na czynność płuc w losowej próbie populacyjnej mieszkańców Małopolski

Introduction: Risk factors other than tobacco smoking contribute to about 20% of chronic obstructive pulmonary disease cases. Exposure to these risk factors and their influence on lung function has not been adequately studied in the population of Malopolska. Material and methods: In random population sample of adults at least forty years old, residents of 2 districts of Malopolska, data on exposure to known and probable respiratory risk factors were collected using questionnaire. All subjects without contraindications performed pre- and post-bronchodilatator spirometry. Results: We analyzed data from 618 subjects; 94.8% subjects lived for longer than 6 months in a dwelling where stove using coal or wood has been used for cooking and/or heating. At the time of study as many as 32.5% subjects were still using coal or wood for cooking or heating. Coal or wood were used as fuel on average for more than 30 years; 67% of subjects have ever worked in professions carrying a risk of exposure to potential respiratory risk factors. We have identified an independent relationship of farming with lower FEV1/FVC values as well as increased chronic obstructive pulmonary disease risk. Conclusions: Significant proportion of Malopolska inhabitants has been exposed to risks associated with cooking or heating with coal or wood. In the studied population farming was related to increased risk of chronic obstructive respiratory disease

Effects of biomass combustion and occupational exposures on lung function in random population sample of Malopolska inhabitants

Introduction: Risk factors other than tobacco smoking contribute to about 20% of chronic obstructive pulmonary disease cases. Exposure to these risk factors and their influence on lung function has not been adequately studied in the population of Malopolska. Material and methods: In random population sample of adults at least forty years old, residents of 2 districts of Malopolska, data on exposure to known and probable respiratory risk factors were collected using questionnaire. All subjects without contraindications performed pre- and post-bronchodilatator spirometry. Results: We analyzed data from 618 subjects; 94,8% subjects lived for longer than 6 months in a dwelling where stove using coal or wood has been used for cooking and/or heating. At the time of study as many as 32.5% subjects were still using coal or wood for cooking or heating. Coal or wood were used as fuel on average for more than 30 years; 67% of subjects have ever worked in professions carrying a risk of exposure to potential respiratory risk factors. We have identified an independent relationship of farming with lower FEV1/FVC values as well as increased chronic obstructive pulmonary disease risk. Conclusions: Significant proportion of Malopolska inhabitants has been exposed to risks associated with cooking or heating with coal or wood. In the studied population farming was related to increased risk of chronic obstructive respiratory disease.Wstęp: W około 20% przypadków przewlekłej obturacyjnej choroby płuc w patogenezie choroby biorą udział czynniki ryzyka inne niż palenie tytoniu. Narażenie na te czynniki i ich wpływ na czynność płuc w populacji Małopolski nie zostało dokładnie zbadane. Materiał i metody: W losowo dobranej próbie populacyjnej z 2 powiatów Małopolski, w wieku co najmniej 40 lat, zebrano za pomocą kwestionariusza szczegółowe dane dotyczące narażeń na znane i przypuszczalne czynniki ryzyka chorób układu oddechowego oraz wykonano spirometrię przed i po podaniu leku rozkurczającego oskrzela. Wyniki: Analizą objęto dane od 618 badanych; 94,8% badanych dłużej niż 6 miesięcy w życiu mieszkało w domu, w którym używano węgla do gotowania lub ogrzewania. W czasie badania aż 32,5% badanych wciąż stosowało węgiel lub drewno do gotowania i/lub ogrzewania. Średni czas używania węgla i drewna jako źródła opału przekraczał 30 lat; 67% badanych wykonywało w życiu zawód wiążący się z narażeniem na czynniki potencjalnie wpływające szkodliwie na układ oddechowy. Stwierdzono niezależny od innych czynników ryzyka wpływ pracy na roli na mniejszą wartość FEV1/FVC oraz większe ryzyko przewlekłej obturacyjnej choroby płuc. Wnioski: Znaczący odsetek mieszkańców Małopolski był narażony na spalanie węgla i drewna oraz narażenia zawodowe. W badanej populacji praca na roli wiązała się z większym ryzykiem przewlekłej obturacyjnej choroby płuc

Outpatients specialist care of chronic obstructive pulmonary disease patients in Poland : results of the KOMPAS study

Introduction: COPD is one of the most important lung diseases. It is responsible for significant proportion of outpatients pulmonary clinics visits. Data on outpatients care of COPD patients in Poland are limited. This article presents design of the KOMPAS study and basic results relating to COPD patients. Material and methods: The aim of this prospective study was to describe population of patients with COPD treated by specialists, and to characterize methods of care used in various COPD stages. Participating physicians used pocket PCs equipped with specially developed software to collect COPD patients’ data. Results: Data on 2958 COPD patients were analyzed. 2/3 of patients were males. Mean patients age was 63 years and mean FEV1 - 57% of predicted value. 86% of all subjects underwent spirometry during the first visit or the previous 6 months. Cough and exertional dyspnoea were the most frequently reported COPD symptoms (about 80% of patients). At the first visit 32% of subjects were current smokers and 51% were ex-smokers. 17% of all study patients have never smoked. Before inclusion 2/3 of patients were treated with bronchodilatator, and about 1/3 with inhaled steroid. After entering the study, over 90% received bronchodilatator and more than 2/3 received inhaled steroid. Differences in treatment between stages of COPD based on its severity were relatively small. Conclusions: results of the KOMPAS study provide basic information about COPD outpatients care in Poland. These data, especially concerning physicians’ compliance with current COPD guidelines, may be useful in planning undergraduate/ /postgraduate training for physicians and for those who are responsible for health resource allocation

Adult form of Pompe disease

Choroba Pompego (glikogenoza typu II) jest to zaburzenie genetyczne dziedziczone w sposób autosomalny recesywny, spowodowane niedoborem lizosomalnej kwaśnej α-glukozydazy (GAA). Niedobór enzymu prowadzi do gromadzenia się patologicznej ilości glikogenu w lizosomach komórek, głównie mięśni prążkowanych. U osób dorosłych jeden z objawów choroby Pompego - osłabienie siły mięśniowej - ma istotny wpływ na codzienną aktywność. Zmniejszone napięcie mięśniowe może prowadzić do wystąpienia niewydolności oddechowej oraz bezdechów obturacyjnych w czasie snu. Nie ma specyficznego, w pełni skutecznego leczenia. Stosuje się dietę bogatobiałkową z małą zawartością węglowodanów, rehabilitację oddechową, nieinwazyjną wentylację mechaniczną ciągłym dodatnim ciśnieniem w drogach oddechowych. W pracy przedstawiono przypadek 24-letniego chorego z osłabieniem siły mięśniowej i niewydolnością oddechową, u którego potwierdzono chorobę Pompego na podstawie oceny histopatologicznej mięśnia szkieletowego oraz badań enzymatycznych i aktywności GAA leukocytów krwi obwodowej. W wyniku leczenia nieinwazyjną wentylacją mechaniczną ciągłym dodatnim ciśnieniem w drogach oddechowych, prowadzoną w systemie bi-level, rehabilitacji oddechowej, stosowania heparyny drobnocząsteczkowej oraz diety ubogocukrowej i bogatobiałkowej, stan kliniczny pacjenta uległ poprawie. Ustąpiły objawy osłabienia mięśni i cechy niewydolności oddechowej. Chory został członkiem międzynarodowej grupy wsparcia osób z chorobą Pompego. Zakwalifikowano go do terapii eksperymentalnej z zastosowaniem rhGAA.Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased. The infantile form is usually fatal. In the adult form of the disease the prognosis is relatively good. Muscle weakness may, however, interfere with normal daily activities, and respiratory insufficiency may be associated with obstructive sleep apnea. Death usually results from respiratory failure. Effective specific treatment is not available. Enzyme replacement therapy with recombinant human GAA (rh-GAA) still remains a research area. We report the case of a 24-year-old student admitted to the Department of Pulmonary Diseases because of severe respiratory insufficiency. Clinical symptoms such as dyspnea, muscular weakness and increased daytime sleepiness had been progressing for 2 years. Clinical examination and increased blood levels of CK suggested muscle pathology. Histopathological analysis of muscle biopsy, performed under electron microscope, confirmed the presence of vacuoles containing glycogen. Specific enzymatic activity of α-glucosidase was analyzed confirming Pompe disease. The only effective method to treat respiratory insufficiency was bi-level positive pressure ventilation. Respiratory rehabilitation was instituted and is still being continued by the patient at home. A high-protein, low-sugar diet was proposed for the patient. Because of poliglobulia, low molecular weight heparin was prescribed. The patient is eligible for experimental replacement therapy with rh-GAA