Laura Mazilu

Colorectal Cancer Screening: Is there a Role for Stool DNA Testing?

Colorectal cancer (CRC) is a major cause of morbidity and mortality throughout the world, being the third most common cancer in the world and the fourth most common cause of death. In recent years increased rates of CCR incidence has been reported in developing countries. The presence or absence of screening programs is an important factor in determining overall changes of CRC epidemiology. CCR screening modalities vary throughout the world, and the differences are probably due to the cost and availability of diagnostic resources. Colonoscopy, sigmoidoscopy, and FOBTs are all recommended screening tests, but adherence rates are low. Additional stoolbased methods that offer more options for CRC have been developed, including fecal DNA tests. Stool-based DNA testing is noninvasive, and it is more sensitive and specific than FOBTs, only a single stool sample is needed, the test does not require diet or medication restrictions, and it evaluates the whole colon and rectum. The disadvantages of stool-based DNA testing include: high cost, lower sensitivity comparing with colonoscopy, and the fact that if the stool-based test is positive, colonoscopy needs to be done anyway. Finally, relatively high rates of false-positive and false-negative results limit the accuracy of these tests, thereby restricting their widespread use.

Small bowel capsule endoscopy, a modern tool for celiac disease diagnosis - case presentation

Abstract Celiac disease is a clinically heterogeneous disease characterized by an inadequate immunological response when patients with specific genetic phenotypes are exposed to gluten. This article presents a case of a young woman diagnosed in Gastroenterology Department of “ St. Andrew Apostle” Emergency Hospital of Constanta with celiac disease after multiple admissions into the hospital for unspecific symptoms such as pallor, fatigue, pirosis, weight loss and 1-2 soft stools/day. The history with period irregularities and infertility without a known cause, a recent unexplained bone fracture, the muscle weakness, neuropsychiatric symptoms characterized by sleep disturbances and irritability correlated with the biological features characterized by moderate feriprive anemia, Ca and Mg decreased level, thyroid autoimmune impairment and gastrointestinal symptoms raised the suspicion of an autoimmune disorder with multiple targets. The videcapsule endoscopy (VCE) revealed the specific pattern of the celiac disease: villous atrophy of jejunum, scalloping, absent folds and cobblestone mucosal pattern. Results were correlated with immunology tests results. The patient was transferred on a gluten free diet and the clinical and VCE controlsrevealed the healing of the jejunum mucosa. The VCE can be the tool for positive diagnosis of an unusual and heterogeneous celiac disease in patients with various symptoms without an apparent cause.

Lethal disseminated tuberculosis in patients under biological treatment – two clinical cases and a short review:

Tumour necrosis factor (TNF)-α inhibitors are highly used in Romania for the treatment of autoimmune disorders, such as rheumatoid arthritis (RA), psoriasis, inflammatory bowel diseases, and ankylosing spondylitis. Biological therapy using TNF-α inhibitors is very effective but is associated with an increased risk of opportunistic infections, including active tuberculosis. Here, two cases are presented of patients with RA and psoriasis under biological therapy who developed very aggressive forms of disseminated tuberculosis, with a rapid progression to death. The authors conclude that patients undergoing biological therapy require thorough evaluation prior to initiating treatment, followed by continuous and rigorous monitoring by a multidisciplinary team during biological treatment, particularly in countries with a high incidence of tuberculosis.

Multiple faces of non-cystic fibrosis bronchiectasis: defining etiology and disease severity

Non-cystic fibrosis bronchiectasis is a common respiratory disorder of diverse etiology, characterized by permanently dilated airways due to chronic bronchial inflammation, to date, regarded as an orphan disease. The aim of this study was to review the etiology of non-cystic fibrosis bronchiectasis and correlate it with disease severity. To this end, we performed a retrospective study of patients diagnosed with bronchiectasis using high resolution computed tomography scans, between january 2014 and december 2016 at Clinical Hospital of Constanta, Romania. The patient group consisted of 70 adults (19 women and 51 men) and the etiology of bronchiectasis was determined in 51 cases. This included: postinfective (20 patients), chronic obstructive pulmonary disese related (18 patients), asthma related (6 patients), connective tissue disease related (4 patients). Also, we identifyed less common conditions causing bronchietasis like: Primary immunodeficiency, Allergic bronchopulmonary aspergilosis and Swayer James syndrome. Furthermore, the severity of bronchiectasis was determined using Bronchiectasis Severity Index. In terms of finding an etiology, disease severity was not the most reliable marker for identifying different etiological phenotypes. Unederlying cause and prognosis of non-cystic fibrosis are both heterogenous, thus, establishing a specific etiological diagnosis and assesment of disease severity is fundamental to therapeutical management and to prevent disease progresion. Overall, non-cystic fibrosis bronchiectasis is an underestimated disease, not only in prevalence and incidence, but also in its ability to cause great morbidity and mortality.

Favorable Evolution of a Patient with Thromboembolic Pulmonary Hypertension

Abstract We present a case of severe thromboembolic pulmonary hypertension in a patient with history of recurrent deep vein thrombosis and pulmonary restrictive disease due to pulmonary and vertebral tuberculosis in young adulthood. He was considered not eligible in the National Program for Primary Pulmonary Hypertension, being referred for thoracic surgery, but he was considered unfit for thrombendarterectomy. Despite guidelines, we administered him specific medical therapy (phosphodiesterase-5 inhibitors and endothelin receptor antagonists). His clinical evolution was satisfactory, with increasing effort tolerance and decreasing need for ambulatory oxigenotherapy.

Unusual Presentation Of Sarcoidosis: Case Report

Abstract Sarcoidosis is a multisystem granulomatous disease with polymorphic manifestations, of unknown etiology, that can affect any organ in the body, but most commonly the lungs [1,2,3]. Extrapulmonary involvement is common, can occur in association with or in the absence of intrathoracic disease, and all organs can be involved, but it is rare to find an isolated extrapulmonary disease (less than 10% of patients) [3,4]. On occasion, the presentation of sarcoidosis may be atypical. We report a case of systemic sarcoidosis, with particular clinical data: extrathoracic onset with subdiaphragmatic lymph nodes, hepatomegaly and splenomegaly.

Prognostic Intake of Molecular Markers in Lung Cancer The Pulmonologist Point Of View

Abstract Lung cancer remains one of the most frequent pathologies in Pulmonology Departments. Tumor extension, histopathological types, and treatment influence the prognosis and survival in lung cancer. Five years survival dramatically decreases for the 4th-stage of the disease. Non-small cell lung cancer (NSCLC) represents the vast majority of lung cancers. In the last decades, important findings have been made on identifying standardized molecular biomarkers that control tumor growth in lung adenocarcinoma. The discovery of new drugs led to the increased survival, even in extensive forms of the disease. The greatest advances could be obtained by targeting EGFR genetic mutations or EML4-ALK translocate in patients diagnosed with adenocarcinoma lung cancer

“Bare Metal” Stent Placement Complications: Interventional Treatment

Abstract The rapid implementation of stents in standard practice and expansion of the indication for their utilization also introduced a new problem: in-stent restenosis. Management of patients with restenosis after stent implantation is still considered an important clinical problem. Although balloon angioplasty is still one of the prefered strategies that provide satisfactory results and a low incidence of complication, repeat stenting with “drug eluting” stents or “drug balloon” angioplasty become a very atractive methods of treatment for selected lesions and patients.

Major drivers influencing adherence and quality of life during antiviral triple therapy in patients with chronic hepatitis C

Abstract Background & Aims. Triple therapy with Peg-IFNs, Ribavirin and protease inhibitors raise the treatment success for hepatitis C up to 83%, but also bring together with the significantly higher rates of sustained virologic response (SVR) more side effects, interfering with patient’s quality of life (QoL) and work productivity. We aimed to analyze the factors influencing the adherence and the QoL during triple therapy using Peg-IFNs, Ribavirin and protease inhibitors in 50 patients diagnosed with chronic hepatitis C with first line therapy failure. Multivariate Cox proportional hazards regression was used to analyze determinants of retreatment initiation and treatment compliance, according to patient features. Results: We identified as major drivers of retreatment initiation the younger age, the female gender, the urban provenience, the high income, and the psychiatric and alcohol or drugs abuse history. The adherence and the QoL during retreatment therapy were similar, despite the regimen used, and obvious lower in patients with history of previous abandon, drugs and alcohol abuse or hematologic/ psychiatric decompensation. A lower capacity to work and a temporary withdrawal from job necessary to continue the therapy were seen similar in patients taking Boceprevir/Telaprevir. Abandon of therapy without a known reason was more frequent in males, with alcohol and drugs intake history, from rural region, with low income, and with psychiatric disturbances in personal history. Conclusion. Physicians should focus to develop medical strategies or drugs to increase the adherence and to provide a better QoL for patients with chronic hepatitis C making antiviral therapy.

A case of late diagnosis of Gaucher disease with lung involvement (case study)

Abstract The present authors report the case of an adult male with no medical history, who developed prolonged fever of unknown cause, progression of anemia and lung fibrosis. A hematological disease was suspected and further investigations were done. The bone marrow aspirate raised the suspicion of Gaucher’s disease. The positive diagnosis was Gaucher’s disease with lung involvement (pulmonary fibrosis and pulmonary hypertension), and cardiac involvement (restrictive cardiomyopathy). Clinical evolution was unfavorable, and the patient died of cardiorespiratory failure. In conclusion, the present case report illustrates a late diagnosis of Gaucher’s disease with lung and cardiac involvement resulting in death in a short period