Personalization of thiopurine therapy: Current recommendations and future perspectives.

Despite great therapeutic advances in the field of biologics, small synthetic molecules such as thiopurines, including azathioprine, mercaptopurine, and thioguanine, remain an important therapeutic pillar in the treatment of inflammatory bowel disease, other autoimmune disorders, and cancer. This review presents the latest guidelines for thiopurine administration, highlighting the importance of individualized therapy guided by pharmacogenomics. It emphasizes dose adjustment based on nudix hydrolase 15 (NUDT15) and thiopurine S-methyltransferase (TPMT) genotype, along side thiopurine S-methyltransferase activity and thiopurine metabolic profile. In addition, the article takes a critical look at emerging research in the field of thiopurine pharmaco genomics featuring novel genetic markers and technological developments in genetic testing. Finally, the potential of integrated approaches that combine genetic, meta bolic, and clinical factors to further individualize thiopurine therapy is highlighted.

Prevalence and Treatment Outcomes of Childhood Acute Lymphoblastic Leukemia in Kosovo.

Advances in research, including novel biomarker identification and patient stratification, have significantly improved the therapy for childhood acute lymphoblastic leukemia (ALL), though access to improved healthcare services varies across geographical regions. In an effort to evaluate the advances in therapeutic approaches, we performed a retrospective analysis of childhood ALL in Kosovo. Our retrospective analysis included 225 cases diagnosed between 2008 and 2023, representing 52% of 429 diagnosed childhood cancers. The average annual incidence was 14, with a median age diagnosis of seven years, and a male predominance (59.54%). Patients were categorized into risk groups, with the majority (43%) in the standard-risk category. We identified five different treatment protocols for this study period. Over 61% of patients achieved remission after the first chemotherapy cycle and we observed a 20% mortality rate. Survival analysis showed that 55% and 40% of patients achieved 2-year and 5-year event-free survival (EFS), respectively, with significant differences across risk groups. Treatment advancements significantly correlated with improved survival rates, achieving a 5-year overall survival (OS) of 88% in the currently used standardized AIEOP-BFM-2009 protocol. Our study emphasizes the need for continued research and customized care strategies to enhance clinical outcomes.

A rare case of thoracic-abdominal aortic aneurysm in conjunction with bilateral superficial femoral artery occlusion, documented with computed tomography angiography.

Aneurysms represent bulging of the weakened blood vessel area, as a result of cystic medial degeneration. Aneurysms chance of rupturing increases over time, resulting in bleeding and death. Therefore, patients with aortic aneurysms require frequent monitoring with magnetic resonance and computed tomography angiography, as well as undergoing open repair surgery and endovascular aneurysm repair. We present a case of ruptured thoracic aortic aneurysm in conjunction with bilateral superficial femoral occlusion, as incidental findings in Covid-19 positive patient. The patient, a 62-years-old female, presented with cough, shortness of breath, fever and leg claudication. Doppler ultrasonography of the lower limbs was conducted to rule out thromboembolism, revealing bilateral superficial femoral arteries occlusion. The patient was administered high doses of parenteral anticoagulants. Hemoptysis ensued, prompting an MSCT scan, that showed right pleural effusion, atelectasis, and right active perihilar infiltrates with inter-lobar pleurisy. Due to inflammatory changes on the lung parenchyma, the patient got tested for Sars-Cov-2, and resulted positive. Contrast-enhanced MSCT also revealed thoracic-abdominal aortic aneurysm with its highest diameter measuring 10 cm, and massive per-aortal thrombus and/or hematoma of 5 cm, which was further ruptured and patient died untreated in the fourth day of hospitalization. Questions arise whether Covid-19 was the primary cause of bilateral superficial femoral artery occlusion and whether high doses of parenteral anticoagulants were the primary cause of thoracic aortic aneurysm rupture. Thus, a careful balance must be made between the detrimental and protective contributions of anticoagulants in the patients presenting with Covid-19 and thoracic-abdominal aortic aneurysm.

A follow-up case of relapsing tuberculous spondylodiscitis, complicated with soft-tissues abscess and percutaneous fistula.

Spinal tuberculosis (Pott's disease) is a frequent manifestation of Mycobacterium tuberculosis infection. It manifests as destruction of 2 or more adjacent vertebral bodies followed with destruction of the intervertebral disc, leading to a condition known as spondylodiscitis. Tuberculous spondylodiscitis represents with back pain, fever, joint stiffness, loss of spinal mobility, neurological symptoms, vertebral body collapse, gibbus formation and kyphosis. Persistent Pott's disease might lead to soft tissues abscesses, frequently involving iliopsoas muscle. We, herein, present a 20 years long follow-up case of a Pott's disease patient. The patient got diagnosed as tuberculous spondylodiscitis, almost 10 years after first symptoms onset. She underwent frequent computed tomography and magnetic resonance scanning, with spinal spondylodiscitis being its only significant finding, while lung parenchyma and other organs were not infected. Patient got treated with multidrug anti-tubercular regimen for 18 months in 2 different periods of time; nonetheless she complicated with iliopsoas muscle abscess and percutaneous fistula. Early diagnosis and treatment of spinal tuberculosis (TB) are of great importance in ensuring a good clinical outcome. Delaying the diagnosis and proper management can lead to spinal cord compression, deformity and irreversible neurological complications. Thus, multidrug anti-tubercular therapy must be started timely and the duration of anti-tubercular therapy needs to be individualized. The decision to terminate anti-tubercular therapy should be based on clinical, radiological, pathological and microbiological indices, rather than being based on specific guidelines.

Pulmonary mucinous adenocarcinoma in the presence of reactivated tuberculosis: A case report.

We report the case of a 55-year-old male patient with concomitant pulmonary mucinous adenocarcinoma and reactivated tuberculosis, documented with multiple MSCT (multi-slice computed tomography) changes. The patient initially presented with productive cough, sluggishness, fatigue, voice hoarseness and tuberculosis changes in MSCT. Later, he was diagnosed with pulmonary mucinous adenocarcinoma, which was confirmed by sputum cytology and transthoracic biopsy. Therefore, clinicians should always evaluate the likelihood of simultaneous lung cancer in patients whose MSCT images suggest TB alterations in the lungs, and swiftly decide on the correct treatment and management approach.