Early Diagnosis Of Malignancy Research Articles

Neural networks in oncourology

In recent decades, neural networks have been widely applied in many fields of science and medicine. Accurate and early diagnosis of malignancies is a key challenge in oncology. Neural networks can analyse a wide range of medical data and identify relationships between qualitative and quantitative features. This allows for more precise and timely diagnoses. Moreover, they can be used to predict tumour progression, evaluate treatment effectiveness, and optimise treatment plans for each patientIn oncourology, the use of neural networks offers new perspectives for the diagnosis, prognosis, and treatment of various cancer conditions related to the urinary tract and male reproductive system. This review article explores how neural networks are being used in this field and present research into the use of neural networks for diagnosing, predicting the course and treating urological oncological diseases. The advantages and limitations of using neural networks in this field are demonstrated, and possible directions for future research are suggested. The application of neural networks in oncourology opens new horizons for the development of a personalised approach to diagnosing and treating oncological diseases. Artificial intelligence has the potential to become a powerful tool for improving the accuracy of patient outcome predictions and reducing undesirable side effects of therapy. Introducing neural networks into oncourological practice creates new opportunities for enhancing the work of healthcare organisations and improving the quality of care provided to patients. This can lead to better treatment outcomes and improved patient satisfaction.

Project Approach to Organizing Colorectal Cancer Screening as a Basis for Improving Public Health

Introduction: Colorectal cancer occupies leading positions in terms of morbidity and mortality rates among malignant neoplasms and, according to recent research findings, no trend towards a decrease in its prevalence is predicted. Colorectal cancer is one of the tumors for which the effectiveness of population-based screening has been demonstrated. In 2023, the population screening model is used in 10 constituent entities of the Russian Federation. Objective: To develop a regional model of a system for early diagnosis of colorectal cancer as part of the clinical examination of certain groups of the adult population based on the analysis of colorectal cancer screening organizational patterns. Materials and methods: We examined the system for early diagnosis of colorectal cancer in primary health care, analyzed statistical reporting data and the contents of fifteen regulations guiding screening within the clinical examination of certain groups of the adult population. Results: Given the high prevalence of colorectal cancer in the Sverdlovsk Region, a pilot project for colorectal cancer screening to be conducted as part of the clinical examination of certain groups of the regional adult population has been developed. It included creation of the regulatory framework, choice of participating health facilities, approval of an algorithm for examining certain groups of adults aged 40 to 75 years, selection of effectiveness criteria for the screening tests, as well as the planned number of tests, groups of the adult population subject to screening, and the frequency of the latter. Coordination functions were assigned to the intermunicipal medical center entrusted to centralize laboratory testing, provide methodological support for the pilot project implementation, collect and analyze statistics from all project participants. Conclusion: Introduction of screening programs aimed at early diagnosis of malignancies allows elaboration of new techniques and mechanisms for their implementation by means of pilot studies, enabling replication of successful projects in regional health facilities and, in the long term, obtaining an overall cumulative effect of sustainable positive changes.

Breast Stereotactic Excision Results

Objective: Suspicious microcalcifications detected in mammographic examinations may appear as early signs of breast malignancies. Microcalcifications that appear only on mammography and are not accompanied by any ultrasonographic mass should be excised after marking with a stereotactic wire, and pathological examination should be performed. In this study, we aimed to analyze the stereotactic biopsy results and share their findings. Methods: Lesions with suspicious microcalcifications on mammography (Figure 1) and in which no mass image was detected in the ultrasonographic response were evaluated retrospectively between January 2016 and December 2022. Excision was applied to the patients after marking with mammography and stereotactic wire. Removal of the suspicious microcalcification area was confirmed by radiography of the specimen in all patients. Pathological examination results of the patients, whether re-excision was made, tumor diameter in cases with malignancy, and follow-up periods of the patients were evaluated. Results: A total of 54 patients who underwent excision due to microcalcification were evaluated in the study. Malignancy was detected in 15 (27.7%) patients. The most common ductal carcinoma in situ (DCIS) was detected. Re-excision was performed in 4 (26.6%) patients, and mastectomy was performed in 2 (13.3%) patients with malignancy. The median tumor diameter of malignant lesions was 9 mm. The mean follow-up period of the patients was found to be 42.46+16.44 months. Conclusion: Suspicious microcalcification areas detected in mammographic examinations, lack of ultrasonographic visibility, and biopsy with another minimally invasive method should be excised after marking with a stereotactic wire. This procedure is an effective method that allows early diagnosis of malignancies.

The problems in pediatric oncology. Cancer alterness: A review

One of the main problems in pediatrics and pediatric oncology is early diagnosis of malignancies in children. It makes a provision for high surveillance more than 90% and ability to restrict an anti-cancer treatment, which define a high quality of life with low incidence of acute reactions and complications of anti-cancer therapy especially delayed. At the same time, even today up to 75% of patients are check into a specialized hospital with advanced disease stages and large tumor mass. The main reason of it is the absence of cancer alterness in first patients contact doctors: pediatricians, highly specialized non-oncological doctors. Identification of high tumor risk children, knowledge of symptoms for differential diagnosis with oncological disorders, abidance by principium of cancer alterness, optimal patients logistics and teamwork of all doctors involved in patients with cancer are the recipe for successful treatment.

A study of histopathological features of upper gastrointestinal tract endoscopic biopsies in a tertiary care centre

Upper gastrointestinal tract (UGIT) comprises of esophagus, stomach and duodenum till the second part. Diseases affecting this region include inflammatory lesions, dysplasias, benign neoplasms and malignancies. Endoscopic biopsy and histopathological examination is considered as gold standard for gastrointestinal disorders. Endoscopic biopsy aids in early diagnosis of malignancy and better patient management. Present study was conducted with an aim of studying various histopathological features of endoscopic biopsies obtained from the UGIT.This study was a retrospective study of all UGIT endoscopic biopsies that were received from January 2015 to April 2020. Archived hematoxylin and eosin stained slides were retrieved and reviewed for various morphological abnormalities.During the study period 70 endoscopic biopsies from the UGIT were received. The incidence of malignancy was 74% and non-neoplastic lesions amounted to 26% of the biopsies. Biopsies from the esophagus (63%) constituted the major portion, followed by stomach (34%) and duodenum (3%).In our study incidence of malignancy outnumbered the non-neoplastic conditions. Esophagus was the most commonly biopsied site and squamous cell carcinoma of middle part of the esophagus was the most common malignancy. Inflammatory conditions constituted major part of the non-neoplastic lesions.

Machine Learning For Detection an Classification of Oral Potentially Malignant Disorders: A Conceptual Review.

Oral potentially malignant disorders (OPMDs) represent precursor lesions that may undergo malignant transformation to oral cancer. There are many known risk factors associated with the development of OPMDs, and contribute to the risk of malignant transformation. Although many advances have been reported to understand the biological behaviour of OPMDs, their clinical features that indicate the characteristics of malignant transformation are not well established. Early diagnosis of malignancy is the most important factor to improve patients' prognosis. The integration of Machine Learning (ML) into routine diagnosis has recently emerged as an adjunct to aid clinical examination. Increased performances of artificial intelligence (AI)-assisted medical devices are claimed to exceed the human capability in the clinical detection of early cancer. Therefore, the aim of this narrative review is to introduce AI terminology, concepts and models currently used in Oncology to familiarize oral medicine scientists with the language skills, best research practices, and knowledge for developing ML models applied to the clinical detection of OPMDs.

The sonographic pattern of nodule and thyroid fine needle aspiration cytology in the evaluation of thyroid malignancy risk

Introduction: Thyroid fine-needle aspiration biopsy (TFNAB), which is basically planned according to the ultrasonographic features is of clinical importance; since it helps early diagnosis of malignancy, facilitates the selection of patients who will undergo thyroid surgery and prevents unnecessary surgical procedures. In our study, we aimed to evaluate the adequacy of TFNAB as well as the retrospective investigation of the link between the estimated malignancy risk and the descriptive features, radiologic findings and biopsy cytology of patients who underwent ultrasonography guided TFNAB.Methods: In this study, the ultrasonographic characteristics of 659 thyroid nodules belonging to 523 patients who underwent TFNAB between 2018 and 2021 were evaluated. The correlation between the risk of malignancy and demographic data, thyroid hormone levels, and ultrasonographic characteristics of nodules was examined. The diagnostic accuracy performances of European thyroid imaging reporting and data system (EU-TIRADS) classification prepared by the European Thyroid Association (ETA), the risk classification systems recommended by the American Thyroid Association (ATA) and the Society of Endocrinology and Metabolism of Turkey (TEMD) were compared with The Bethesda System for Reporting Thyroid Cytopathology (Bethesda). The adequacy of biopsy was also evaluated. The data which is obtained from the study was statistically analyzed by means of SPSS 20.0 (Statistical Package for the Social Sciences; SPSS Inc. Chicago, IL, USA) program.Results: In this study, the biopsies of 41 (6.2%) among 659 thyroid nodules appeared to be malignant. A statistically significant correlation was detected between malignancy and hypoechogenicity (p=0.011), microcalcification (p=0.005), irregular margins (p=0.028), and accompanying pathological lymph node (p=0.002). Compared to the surgical pathology results, the accuracy that was closest to that of Bethesda System (AUC: 0.778) (Area Under Curve) was found in EU-TIRADS (AUC:0.715). In the biopsies performed in our own endocrinology clinic (43.7% of the total biopsies), the ratio of non-diagnostic results was found to be 8.3%, whereas it was 29.1% in the biopsies performed in other clinics (56.3% of the total biopsies).Conclusion: It should always be kept in mind that, in the cytologic evaluation, the ultrasonographic nodule pattern recommended by the guidelines is very important in the management of patients, because cytology may show false negative and false positive results as well as unclear or non-diagnostic pathological findings. However, clinicians should also understand that classification systems may have strengths and weaknesses. Our study also emphasizes the importance of how experienced a clinic performing biopsy is as well as the role of cytopathologist in obtaining diagnostic results in biopsy.Keywords: Thyroid nodule, neoplasia, ultrasonography, biopsy fine-needle

Diversity of malignancies in patients with different types of inborn errors of immunity

Genetic defects in the development, maturation, and/or function of the immune cells can lead to Inborn errors of immunity (IEI) which may predispose patients to malignancies. The overall risk for cancer in children with IEI ranges from 4 to 25% and the type of malignancy is highly dependent on the specific mutant gene underlying IEI. We investigated 3056 IEI patients registered in the Iranian national registry between the years 1999 and 2020 in this retrospective cohort study. The frequency of malignancy and its association with the type of IEI in these patients were evaluated. A total of 82 IEI patients with malignancy were enrolled in this study. Among them, predominantly lymphoma was the most common type of malignancy (67.1%), followed by leukemia (11%), and cancers of the head and neck (7.3%). Among identified lymphoma cancers, non-Hodgkin’s lymphomas were the most frequent type (43.9%) followed by different subtypes of Hodgkin’s lymphoma (23.2%). Solid tumors (18.3%) appeared to be very heterogeneous by type and localization. The correlation between the type of malignancy and survival status and the association between the type of malignancy and IEI entities were unremarkable. The awareness of the association between the presence of IEI and cancer highlights the importance of a synergistic effort by oncologists and immunologists in the early diagnosis of malignancy and personalized therapeutic strategies in IEI patients.

Could machine learning approach improve diagnosis accuracy for malignancy in imaging examinations? A mini-review

The early diagnosis of malignancy by ultrasound, Computed Tomography (CT), and Magnetic Resonance Imaging (MRI) is still limited. Therefore, the diagnostic efficacy could be improved from Machine Learning (ML), which mainly based on deep learning and convolutional neural networks. In this work, we reviewed ML-based imaging examinations ultrasound, CT and MRI could evaluate early diagnosis value of small size tumor. Besides, ultrasound could distinguish primary tumors from metastatic tumors, CT could also play a role in tumor risk classification, and MRI could also predict the pathological grade and enzyme mutation status of malignancy, which can be used to predict early survival and guide clinical decision-making. Therefore, we believe that ML could be added to improve the accuracy of diagnosis in patients with suspected tumor imaging examinations.

Positive Autoantibody Is Associated with Malignancies in Patients with Idiopathic Interstitial Pneumonias.

Various autoantibodies are associated with clinical outcomes in patients with idiopathic interstitial pneumonias (IIPs). We retrospectively analyzed the association between autoantibodies and malignancies in IIP patients. Comprehensive analyses of autoantibodies were performed using immunoprecipitation and enzyme-linked immunosorbent assays in 193 consecutive IIP patients. Cancer-related factors were analyzed using logistic regression analysis. In total, 22 of 193 patients (11.4%) with IIP had malignant disease. In univariate analysis, positivity for any autoantibody (odds ratio (OR), 3.1; 95% confidence interval (CI), 1.2–7.7; p = 0.017) and antinuclear antibody titer ≥1:320 (OR, 3.4; CI, 1.2–9.8; p = 0.024) were significantly associated with malignancies. Positive anti-aminoacyl tRNA synthetase (ARS) (OR, 3.7; CI, 0.88–15.5; p = 0.074) and anti-Ro52 antibody (OR, 3.2; CI, 0.93–11.2; p = 0.065) tended to be associated with malignancies. In multivariate analysis, independent risk factors were male sex (OR, 3.7; CI, 1.0–13.5; p = 0.029) and positivity for any autoantibody (OR, 3.9; CI, 1.5–10.1; p = 0.004) in model 1, and male sex (OR, 3.9; CI, 1.0–15.3; p = 0.049), antinuclear antibody titer ≥1:320 (OR, 4.2; CI, 1.4–13.3; p = 0.013), and positivity for anti-ARS antibody (OR, 6.5; CI, 1.2–34.1; p = 0.026) in model 2. Positivity for any autoantibody, antinuclear and anti-ARS antibodies, and male sex were independent risk factors for malignancies in IIP patients. Testing autoantibodies in IIP patients might help the early diagnosis of malignancies.

Form Factors as Potential Imaging Biomarkers to Differentiate Benign vs. Malignant Lung Lesions on CT Scans.

Indeterminate lung nodules detected on CT scans are common findings in clinical practice. Their correct assessment is critical, as early diagnosis of malignancy is crucial to maximise the treatment outcome. In this work, we evaluated the role of form factors as imaging biomarkers to differentiate benign vs. malignant lung lesions on CT scans. We tested a total of three conventional imaging features, six form factors, and two shape features for significant differences between benign and malignant lung lesions on CT scans. The study population consisted of 192 lung nodules from two independent datasets, containing 109 (38 benign, 71 malignant) and 83 (42 benign, 41 malignant) lung lesions, respectively. The standard of reference was either histological evaluation or stability on radiological followup. The statistical significance was determined via the Mann–Whitney U nonparametric test, and the ability of the form factors to discriminate a benign vs. a malignant lesion was assessed through multivariate prediction models based on Support Vector Machines. The univariate analysis returned four form factors (Angelidakis compactness and flatness, Kong flatness, and maximum projection sphericity) that were significantly different between the benign and malignant group in both datasets. In particular, we found that the benign lesions were on average flatter than the malignant ones; conversely, the malignant ones were on average more compact (isotropic) than the benign ones. The multivariate prediction models showed that adding form factors to conventional imaging features improved the prediction accuracy by up to 14.5 pp. We conclude that form factors evaluated on lung nodules on CT scans can improve the differential diagnosis between benign and malignant lesions.

Proportion of Thyroid Malignancy in Simple Multi-nodular Goiter: A Prospective Observational Study in Rajshahi Medical College Hospital

Background: Thyroid swelling is a common clinical problem throughout the world. Most of the swellings are benign but someare malignant. Epidemiologically ascertained risk factors for thyroid carcinoma are ionizing radiation, presence of thyroidadenoma and multi-nodular goiter. Objectives: To determine the proportion and type of thyroid carcinoma in simple multi-nodular goiter after surgical resectionon histopathological basis.Materials and methods: This prospective observational study was carried out in the Department of Surgery and Otolaryngology and Head neck surgery of Rajshahi Medical College Hospital from January 2015 to December 2016.The studypopulation consisted of 200 patients who were diagnosed as a simple multi-nodular goiter. Among them 60 samples were fromsurgery and 140 samples from Head neck and otolaryngology wards. All the patients were admitted through OPD with routineplus investigations specific to thyroid including thyroid profile, ultrasonography of neck, FNAC of dominant nodule beforebeing subjected to surgery. Results: Among 200 cases which were included in this study 22 (11%) containing foci of malignancy. Incidence of malignancycommonly occurs in females, papillary carcinoma is being the commonest entity. Conclusion: The incidence of malignancy in simple multi-nodular goiter in this study was 11% that is quite high. So, peopleshould be educated and encouraged to attend the thyroid clinics for proper evaluation and early diagnosis of malignancy.

Mucinous adenocarcinoma in perianal fistula in Crohn's disease: Case report and literature review.

SummaryIntroduction and importanceCrohn's disease (CD) is a chronic bowel disease that, due to exacerbated inflammation, can lead to complications such as the development of perianal fistulas. The development of mucinous adenocarcinoma in perianal fistulas in patients with CD is rare and, consequently, few reports exist in the literature.Case presentationWe report the case of a 71-year-old man diagnosed 22 years ago with CD with perineal involvement, who came with complaints of intense perianal pain, a gluteal mass, and local bleeding. Tomography of his abdomen showed an expansive, heterogeneous, and solid perianal mass on the right, with interspersed necrotic/liquefied areas and possible mucinous content. The patient was referred to the surgery department for an incisional biopsy, which confirmed mucinous adenocarcinoma. The patient underwent extra levator abdominoperineal rectal resection (APR) with partial prostatectomy.Clinical discussionPerineal mucinous adenocarcinoma arising in a fistula associated with CD is very rare. Since the symptoms overlap, early diagnosis of malignancy is difficult. Histological analysis is the gold standard for its diagnosis. Surgical resection through APR is well-established and, despite being a complex procedure with potential complications, tends to have good results. However, the locoregional and inguinal lymph node involvement was related to a worse progression in this case.ConclusionThe diagnostic hypothesis of mucinous adenocarcinoma should be suspected in CD patients who present long-term perineal involvement with fistulas. Biopsies and imaging exams should be performed to aid the diagnosis of the condition and thus contribute to the surgical plan.

Minimal Change Disease Associated with Malignant Epithelioid Mesothelioma: A Case Report

We report the case of a 64 year old male patient with a recent diagnose of pulmonary nodules with pleural thickening who was admitted to the nephrology department of our hospital for further evaluation of nephrotic syndrome (NS). Malignant epithelioid mesothelioma (MEM) was diagnosed after pleural biopsy while the renal biopsy showed minimal change disease (MCD) with acute tubular necrosis and interstitial lymphoplasmacytic infiltrate. MCD is the most common cause of nephrotic syndrome in children while it accounts for a smaller proportion of NS in adults. The underlying cause of MCD is unclear (Cameron, 1987). Evidence so far suggests that T-cell dysfunction results in the production of a circulating factor directly affecting the glomerular capillary wall with consequent foot process fusion. MCD as paraneoplastic syndrome is common in hematological disorder while the incidence in lung pulmonary malignancies is rare. Early recognition leads to an early diagnosis of malignancy improving the outcome and diminishing the associated co-morbidities.

Non-Invasive Diagnosis of Malignancies Based on the Analysis of Markers in Exhaled Air.

Novel non-invasive methods for the diagnosis of malignancies should be effective for early diagnosis, reproducible, inexpensive, and independent from the human factor. Our aim was to establish the applicability of the non-invasive method, based on the analysis of air exhaled by patients who are at different stages of oropharyngeal, larynx and lung cancer. The diagnostic device includes semiconductor sensors capable of measuring the concentrations of gas components in exhaled air, with the high sensitivity of 1 ppm. The neural network uses signals from these sensors to perform classification and identify cancer patients. Prior to the diagnostic procedure of the non-invasive method, we clarified the extent and stage of the tumor according to current international standards and recommendations for the diagnosis of malignancies. The statistical dataset for neural network training and method validation included samples from 121 patients with the most common tumor localizations (lungs, oropharyngeal region and larynx). The largest number of cases (21 patients) were lung cancer, while the number of patients with oropharyngeal or laryngeal cancer varied from 1 to 9, depending on tumor localization (oropharyngeal, tongue, oral cavity, larynx and mucosa of the lower jaw). In the case of lung cancer, the parameters of the diagnostic device are determined as follows: sensitivity—95.24%, specificity—76.19%. For oropharyngeal cancer and laryngeal cancer, these parameters were 67.74% and 87.1%, respectively. This non-invasive method could lead to relevant medicinal findings and provide an opportunity for clinical utility and patient benefit upon early diagnosis of malignancies.

Non-Invasive Diagnosis of Malignancies Based on the Analysis of Markers in Exhaled Air

Background: Novel non-invasive methods for diagnosis of malignancies should be effective for early diagnosis, reproducible, inexpensive, and independent from the human factor. Our aim was to establish the applicability of the non-invasive method, based on analysis of air exhaled by patients who are at different stages of the oropharyngeal, larynx and lung cancer. Methods: The diagnostic device includes semiconductor sensors capable of measuring the concentration of gas components in exhaled air with the high sensitivity of 1 ppm. The neural network uses signals from these sensors to perform classification and identify cancer patients. Prior to the diagnostic procedure by the non-invasive method, we clarified the extent and stage of the tumor according to current international standards and recommendations for the diagnosis of malignancies. Findings: The statistical dataset for neural network training and method validation included samples from 121 patients. In our study, exhaled air samples were taken from groups of patients with the most common tumor localizations: lungs, oropharyngeal region and larynx. The largest number of cases (21 patients) were lung cancer, while the number of patients with oropharyngeal or laryngeal cancer varied from 1 to 9 depending on tumor localization (oropharyngeal, tongue, oral cavity, larynx and mucosa of the lower jaw). In the case of lung cancer, the parameters of the diagnostic device are determined as follows: sensitivity – 95.24 %, specificity – 76.19 %. For oropharyngeal cancer and laryngeal cancer, these parameters were 67.74 % and 87.1 %, respectively. Interpretation: This non-invasive method could lead to relevant in medicine findings and provide to opportunity of clinical utility and patient benefit on early diagnosis of malignancies. Further research should be focused on other localizations of malignancies, distinguishing different types of cancer, as well as the variability of samples and sampling technique. Funding: The Federal target program of the Ministry of Science and higher Education of the Russian Federation, RFMEFI60419X0221. Declaration of Interests: No potential conflicts of interest were disclosed. Ethics Approval Statement: The study was approved by the Bioethical Committee of the Cancer Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences (Order on creation No. 57-p dated 23.12.2010).

Oral Cancer Detection: Hybrid Method of KFCM Clustering

Oral neoplasm is one of the complex diseases in the world. The risk of death is increasing all over the world due to the rapid swelling of abnormal tissues. Early diagnosis of malignancy is necessary to avoid the risk of death. The tumor detected from magnetic resonance imaging (MRI) images is new innovative analysis topic in medical intervention. Normally the internal structure of the mouth can be examined using the MRI scan or CT scan. MRI scan is an advantageous and adequate technique for detection of the oral malignancy. It is non-invasive because it does not use any radiation. In this study, the hybrid approach KFCM is proposed for the segmentation and compared with conventional K-Means & Fuzzy C-Means(FCM).The main objective of merging these two algorithms is to reduce the total iterations generated by initializing an exact cluster to the FCM clustering with less computation time. The developed system concentrated on image enhancement using anisotropic diffusion to improve the quality of image and segmentation technique using KFCM clustering to reduce computation time &improve the segmentation accuracy. It exactly segments the lesion region and evaluates the lesion area.

DIAGNOSTIC IMPORTANCE OF BONE MARROW ASPIRATION IN HEMATOLOGICAL DISORDERS – TERTIARY CARE CENTRE BASED STUDY.

Background: Bone marrow aspiration (BMA) is a minimally invasive technique performed in a variety of hematological disorders. It is considered essential for the diagnosis and management of haematological disorders. BMA is usually sufficient to diagnose nutritional anemia and most of the leukemias.
 Aims & Objectives: To study the spectrum of hematological disorders diagnosed on BMA in a tertiary care centre, Udaipur.
 Material & Methods: The present study was conducted in the hematology section of department of Pathology, RNT Medical College & MB Hospital, Udaipur for a period of one year from June 2018 to May 2019. A total of 123 cases of suspected hematological disorders underwent the process of BMA from posterior superior iliac spine under local anesthesia. Exclusion criteria of our study included aspirates of dry tap. BMA smears were stained with Giemsa stain for morphologic examination.
 Result: The present study included 123 cases. Male to female ratio in our study was 1.6:1. Anemia (45.5%) was the most common hematological disorder in our study, iron deficiency anemia being the most common followed by megaloblastic anemia. Chronic myeloid leukemia (26.01%) was the most common hematological malignancy in our study.
 Conclusion: Bone marrow aspiration is a useful diagnostic procedure in hematological practice for the diagnosis of both hematological and non-hematological conditions. Rapid and early diagnosis of malignancies are critical for proper initiation of treatment and to control the disease.
 Keywords: Bone Marrow Aspiration, Hematological disorders, Leukemias

Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients.

Ataxia telangiectasia (AT) is a genetically based multisystemic disorder. We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients. Medical records of the patients who were diagnosed and followed by a multidisciplinary approach during a 27-year period (1988-2015) were reviewed retrospectively. Forty six female and 45 male patients with a mean follow-up period of 39.13±4.28 months were evaluated. The mean age at the time of symptom onset and diagnosis were 15.4±1.09 months and 73.61±4.11 months, respectively. Neurological abnormalities were progressive truncal ataxia, nystagmus, dysarthria, oculomotor apraxia and choreoathetosis. Thirty one patients (34.1%) became dependent on wheelchair at a mean age of 12.1±2.8 years. Eleven patients (12.1%) became bedridden by a mean age of 14.7±1.8 years. Cranial magnetic resonance imaging revealed pathological findings in 47/66 patients. Abnormal immunological parameters were determined in 51/91 patients: immunoglobulin (Ig)A deficiency (n=38), lymphopenia (n=30), IgG (n=15) and IgG2 (n=11) deficiency. Occurrence of recurrent sinopulmonary infections (n=45) and bronchiectasis (n=22) were found to be more common in patients with impaired immunological parameters (P=0.029 and P=0.023, respectively). Malignancy developed in 5 patients, being mostly lymphoreticular in origin and resulted in death of 4 patients. AT is a long lasting disease with multisystem involvement necessitating multidisciplinary follow up, as described in our cohort. Early diagnosis of malignancy and supportive treatments regarding pulmonary and neurological health may prolong survival and increase the quality of life.

Cardiac Fibroelastoma versus Thrombus: Echocardiographic Evidence Can Be Misleading.

We present a case of a young female with stroke symptoms who underwent valve sparing resection of a presumed fibroelastoma based on echocardiographic findings. After confirming embolic stroke, she underwent excision of the lesion, which on pathology revealed a nonbacterial thrombus. Ultimately, this led to a more extensive work-up leading to the discovery of a papillary serous ovarian carcinoma, the underlying cause of her hypercoagulable state. The initial echocardiographic findings painted the clear picture of a papillary tumor on the aortic valve which was likely the source of the emboli resulting in ischemic stroke. This unique case presentation illustrates that imaging, including echocardiography, may not always coincide with the clinical diagnosis. Thus, understanding the differential diagnoses of cardiac masses is of vital clinical significance. The distinction of fibroelastoma versus the much less common finding of aortic thrombus may lead to early diagnosis of malignancy and prevention of life threatening events due to stroke or undiagnosed disease.