Cystic Fibrosis – results of CFTR modulators in Croatia

Cistična fibroza najčešća je nasljedna bolest, koja skraćuje životni vijek, a uzrokuje je defekt u genu za transmembranski regulator provodljivosti cistične fibroze (eng. cystic fibrosis transmembrane regulator – CFTR). Poremećena je homeostaza elektrolita, što se očituje simptomima u više organskih sustava. Plućne manifestacije, s kroničnim infekcijama, upalom i, na kraju, respiratornim zatajenjem, ostaju i dalje najvažnija prijetnja životnom vijeku bolesnika. Do prije jednog desetljeća bilo je dostupno samo simptomatsko liječenje. Od 2012. g. dostupno je liječenje tzv. modulatorima CFTR-proteina i njihovim kombinacijama za osobe s cističnom fibrozom koje nose različite varijante CFTR-gena. Pojavom tih lijekova uvelike se promijenila perspektiva i kvaliteta života ljudi s cističnom fibrozom, ali postavljeni i novi izazovi u vezi s dugoročnim komplikacijama, pitanje eventualnog smanjenja konvencionalnog liječenja, ali i financiranja terapije, koja je mnogim bolesnicima nedostupna. Iznesene su bazične spoznaje o cističnoj fibrozi i funkciji CFTR-proteina, klasifikaciji varijanata CFTR-gena, mogućnostima liječenja CFTR-modulatorima te osnovni ishodi liječenja bolesnika s cističnom fibrozom u Hrvatskoj, gdje se ta terapija primjenjuje od jeseni 2021. godine.Cystic fibrosis, the most frequent lifespan shortening hereditary disease in Caucasians, is caused by a defect in the CFTR (cystic fibrosis transmembrane regulator) gene. Disturbed electrolyte homeostasis leads to the development of different symptoms in multiple organs. Pulmonary manifestations with chronic infections and inflammation result in respiratory failure and remain the most important life-shortening factor. Until recently only symptomatic treatment was available. In year 2012. a new treatment approach with small molecules that modulate the CFTR protein was introduced. Different combinations of CFTR modulators are applicable to certain patients carrying different variants of the CFTR gene. CFTR modulators made a huge difference in the quality of life and perspectives of people with cystic fibrosis. At the same time, new challenges emerged regarding long term complications and possible reduction of conventional treatment options, as well as financial issues that are an obstacle to the use of these drugs for many patients. This paper brings basic insight into cystic fibrosis, the function of CFTR protein, the classification of CFTR gene variants and possibilities of treatment with CFTR modulators as well as basic outcomes of CFTR modulators treatment in Croatia, where this therapy was introduced in autumn 2021

Computed tomography of pulmonary complications of community-acquired pneumonia

Izvanbolnička pneumonija (IBP) jest pneumonija stečena u svakodnevnom životu. Uzročnici su bakterije ili virusi, a najčešće se liječi empirijski, budući da se uzročnik pozitivno identificira u samo 5% slučajeva. Njezin klinički tijek može varirati od blage do teške upale, čak i životno ugrožavajuće. Danas se IBP rutinski dijagnosticira klasičnim rendgenogramom srca i pluća. Kompjutorizirana tomografija (CT) koristi se kao jedna od slikovnih metoda, uz ultrazvuk toraksa, da se utvrde plućne komplikacije IBP poput pleuralnog izljeva, empijema, pneumotoraksa, pneumatokele i plućnog apscesa. Empijem i izljev se slikovno prezentiraju kao kolekcija tekućeg sadržaja u pleuralnom prostoru, a ako se kolekcija nalazi u plućnom parenhimu omeđena debelom stijenkom, radi se o apscesu. Cistična lezija plućnog parenhima ispunjena zrakom zove se pneumatokela čijom rupturom može nastati pneumotoraks, odnosno patološko nakupljanje zraka u pleuralnom prostoru. U ovom pregledom članku predstavit ćemo slikovni prikaz CT nalaza plućnih komplikacija IBP kod bolesnika s plućnim apscesom, empijemom, pneumotoraksom i pneumatokelom s bronhogenom fistulom.Community-acquired pneumonia (CAP) is a pneumonia acquired in normal, daily life. The causes of CAP are bacteria and viruses, and the treatment is usually empiric since the pathogen is positively identified in only 5% of the cases. Its course can vary from mild to severe and even life-threatening. Today CAP is readily diagnosed by chest radiogram. Computed tomography (CT) and transthoracic ultrasound are used as imaging methods to diagnose pulmonary complications of CAP like pleural effusion, empyema, pneumothorax, pneumatocele and lung abscess. The empyema and effusion are presented as a collection of fluid in the pleural space, and if the collection is located in the pulmonary parenchyma bounded by a thick wall, it is called an abscess. An air-filled cystic lesion of the pulmonary parenchyma is called pneumocele, which can rupture to cause pneumothorax - pathological presence of air in the pleural space. In this review article we present an image series of CT findings of pulmonary complications of CAP in patients with lung abscess, empyema, pneumothorax, and pneumatocele with bronchogenic fistula

Ankylosis of knee joint in human skeletal remains from Istria, case report from St. Teodor (15th-18th centuries)

Objective: To present a case of knee joint ankylosis in human skeletal remains found in Istria, Croatia. Materials and methods: A fused knee joint was found at archeological site St Teodor. We analyzed the knee changes using macroscopic observation, using digital radiography and computed tomography. Results: Macroscopic analysis and both digital radiography and computed tomography imaging show knee ankylosis with cortical thickening. Conclusion: Knee ankylosis with cortical thickening suggests that the person still used the leg despite the disability

Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology

Introduction: S-Adenosylhomocysteine hydrolase deficiency (SAHHD) is a rare inherited multisystemic disease with muscle involvement as one of the most prominent and poorly understood features. To get better insight into muscle involvement, skeletal muscles were analyzed by magnetic resonance imaging (MRI) and MR spectroscopy (MRS) in three brothers with SAHHD in the different age group. ----- Method: The study was based on analysis of MRI and MRS of skeletal muscles of the lower and the proximal muscle groups of the upper extremities in three SAHHD patients. ----- Results: Three siblings presented in early infancy with similar signs and symptoms, including motor developmental delay. All manifested myopathy, more pronounced in the lower extremities and the proximal skeletal muscle groups, and permanently elevated creatine kinase. At the time of MRI and MRS study, the brothers were at the age of 13, 11, and 8 years, respectively. MRI revealed lipid infiltration, and the MRS curve showed an elevated muscle lipid fraction (higher peak of lipid), which increased with age, and was more prominent in the proximal skeletal muscles of the lower extremities. These results were consistent with muscle biopsy findings in two of them, while the third patient had no specific pathological changes in the examined muscle tissue. ----- Conclusions: These findings demonstrate that an accessible and non-invasive method of MRI and MRS is useful for an insight into the extent of muscle involvement, monitoring disease progression, and response to treatment in SAHHD