Türkiye klinikleri Tıbbi Genetik

Nadir hastalıklar toplumda belirli bir sıklığın altında görülen ancak birlikte değerlendirildiğinde toplum sağlığı için ciddi bir sorun oluşturan bir hastalık grubudur. Önemli bir kısmı kalıtsal olup tüm yaş gruplarını etkilese de genellikle çocuklar daha sık etkilenir. Nadir hastalıkların çoğunun kesin tedavisi bulunmamaktadır, ancak son yıllardaki biyoteknolojik gelişmeler hastalıkların patofizyolojisini daha iyi anlayıp ilaç geliştirme süreçlerini hızlandırmıştır. Bu derlemede nadir hastalıklara genel bir bakış sağlandıktan sonra orphan (yetim) ilaç geliştirme süreçleri hakkında bilgi verilmiştir. Ayrıca biyoteknolojik ilaçların mekanizmalarına göre sınıflandırılması, her sınıfın mevcut örnekleri, geliştirilmekte olan aday tedaviler ve ilaç geliştirme sürecinde yaşanan zorluklar tartışılmıştır.Rare diseases are a group of diseases that are less frequent than a certain threshold, but, on the whole, cause a serious public health burden. A significant amount of them are hereditary, and although encountered in all ages, they mostly affect children. Most rare diseases have no definitive treatment. Nevertheless, biotechnological progress helped us comprehend their pathophysiology and accelerated drug development processes. In this review, a general insight into the rare diseases is provided, followed by advancements in orphan drug development processes. The classification of the biotechnological therapies depending on their mechanism of action, current examples, candidate therapy modalities, and challenges faced during drug development are also discussed.</p

Mid-long Term Results of Dorsal Approach and Temporary Fixation Procedure in Overlooked Perilunate Carpal Dislocation

Aim:Our aim in this study is to present our mid-long term functional and radiological results after open reduction with dorsal approach, K-wire application and scapholunate ligament repair in cases with perilunate dislocation.Materials and Methods:Eleven patients who applied for perilunate dislocation between 2014 and 2018 and were followed up for at least 18 months were included in our study. The scapholunate angle, scapholunate gap, arthrosis, and avascular necrosis were evaluated in cases with isolated perilunate dislocations. The wrist flexion-extension and pronation-supination range of motion (ROM) of the patients were measured using a goniometer, and the wrist grip strength using a Jamar dynamometer. Functionally, the cases were evaluated according to the Disabilities of the Arm, Shoulder and Hand (DASH) scoring and the Herzberg clinical scoring system.Results:The mean age was 41.1 (28-64) years, the mean follow-up time was 3.8 (1.5-6) years. The mean scapholunate angle was 49.1±8.7 (37.3-70.4) degrees, the mean scapholunate gap was 2.0±0.5 (1.2-2.8) mm, the mean flexion-extension ROM was 131±17.5 (90-155) degrees, and the mean pronation-supination ROM was 155.4±6.1 (140-160) degrees. Patients had a mean DASH score of 5.6±3.2 (0-10.9) and a mean Herzberg clinical score of 89.1±9.4 (70-100).Conclusion:In perilunate dislocations, early and appropriate treatment is the main determinant of prognosis. Close follow-up of these injuries for at least 18 months is extremely important in terms of possible complications

Efficacy and safety profile of COVID-19 vaccine in cancer patients: A prospective, multicenter cohort study

Aim: To compare the seropositivity rate of cancer patients with non-cancer controls after inactive SARS-CoV-2 vaccination (CoronaVac) and evaluate the factors affecting seropositivity. Method: Spike IgG antibodies against SARS-CoV-2 were measured in blood samples of 776 cancer patients and 715 non-cancer volunteers. An IgG level >= 50 AU/ml is accepted as seropositive. Results: The seropositivity rate was 85.2% in the patient group and 97.5% in the control group. The seropositivity rate and antibody levels were significantly lower in the patient group (p < 0.001). Age and chemotherapy were associated with lower seropositivity in cancer patients (p < 0.001). Conclusion: This study highlighted the efficacy and safety of the inactivated vaccine in cancer patients. Clinical Trials Registration: ClinicalTrials.gov) Plain language summary Cancer patients are at high risk for infection with SARS-CoV-2 and of developing the associated disease, COVID-19, which therefore puts them in the priority group for vaccination. This study evaluated the efficacy and safety of CoronaVac, an inactivated virus vaccine, in cancer patients. The immune response rate, defined as seropositivity, was 85.2% in the cancer patient group and 97.5% in the control group. The levels of antibodies, which are blood markers of immune response to the vaccine, were also significantly lower in the patient group, especially in those older than 60 years and receiving chemotherapy. These results highlight the importance of determining the effective vaccine type and dose in cancer patients to protect them from COVID-19 without disrupting their cancer treatment.Oncological Clinical Research Association (ONKAD

The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution

Artificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular medicine, as in many other fields. The growth in patient data, identification of new diseases and phenotypes, discovery of new intracellular pathways, availability of greater sets of omics data, and the need to continuously analyse them have led to the development of new AI platforms. AI continues to weave its way into the fabric of genetics with the potential to unlock new discoveries and enhance patient care. This technology is setting the stage for breakthroughs across various domains, including dysmorphology, rare hereditary diseases, cancers, clinical microbiomics, the investigation of zoonotic diseases, omics studies in all medical disciplines. AI's role in facilitating a deeper understanding of these areas heralds a new era of personalised medicine, where treatments and diagnoses are tailored to the individual's molecular features, offering a more precise approach to combating genetic or acquired disorders. The significance of these AI platforms is growing as they assist healthcare professionals in the diagnostic and treatment processes, marking a pivotal shift towards more informed, efficient, and effective medical practice. In this review, we will explore the range of AI tools available and show how they have become vital in various sectors of genomic research supporting clinical decisions