Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.
Thyroid hemiagenesis (THA) is a rare congenital anomaly in which one lobe of thyroid gland fails to develop during embryological stage. Agenesis may be unilateral, total or isthmic. Left thyroid lobe is more commonly involved than right lobe in hemiagenesis. Agenesis of the isthmus was seen in 50% of cases. Left sided hemiagenesis is more common than right sided hemiagenesis with a Left to right ratio of 4:1. Clinically patients can be euthyroid, hypothyroid or hyperthyroid. Often it is diagnosed as an incidental finding during ultrasonography (USG) study of neck, which can easily diagnose this condition.
Actual incidence of THA is unknown; most cases are diagnosed in patients admitted for thyroid scan or thyroid surgery because
... Show MorePresent investigation aimed to study plasma BNP hormone estimation as predictor of brain stroke and neurocognitive in relative with other limitations in CKD patient. The case control experimental study was conducted on CKD patient at Yarmuk Hospital at Baghdad Province, Iraq from February to April 2020. The results showed that there were significant variances (P< 0.05) between CKD patients and control group, there was significant increase in BNP hormone and cystatin-C levels at patient, while ihematological parameters were significantly decreased. The parameters of lipid profile were significantly increased (P<0.05). The result revealed that there was relationship between BNP hormone level and CKD. This support that BNP level is related wit
... Show MoreSupport vector machine (SVM) is a popular supervised learning algorithm based on margin maximization. It has a high training cost and does not scale well to a large number of data points. We propose a multiresolution algorithm MRH-SVM that trains SVM on a hierarchical data aggregation structure, which also serves as a common data input to other learning algorithms. The proposed algorithm learns SVM models using high-level data aggregates and only visits data aggregates at more detailed levels where support vectors reside. In addition to performance improvements, the algorithm has advantages such as the ability to handle data streams and datasets with imbalanced classes. Experimental results show significant performance improvements in compa
... Show MoreObjective: Breast cancer is regarded as a deadly disease in women causing lots of mortalities. Early diagnosis of breast cancer with appropriate tumor biomarkers may facilitate early treatment of the disease, thus reducing the mortality rate. The purpose of the current study is to improve early diagnosis of breast by proposing a two-stage classification of breast tumor biomarkers fora sample of Iraqi women.
Methods: In this study, a two-stage classification system is proposed and tested with four machine learning classifiers. In the first stage, breast features (demographic, blood and salivary-based attributes) are classified into normal or abnormal cases, while in the second stage the abnormal breast cases are
... Show MoreThe interests toward developing accurate automatic face emotion recognition methodologies are growing vastly, and it is still one of an ever growing research field in the region of computer vision, artificial intelligent and automation. However, there is a challenge to build an automated system which equals human ability to recognize facial emotion because of the lack of an effective facial feature descriptor and the difficulty of choosing proper classification method. In this paper, a geometric based feature vector has been proposed. For the classification purpose, three different types of classification methods are tested: statistical, artificial neural network (NN) and Support Vector Machine (SVM). A modified K-Means clustering algorithm
... Show MoreCrime is considered as an unlawful activity of all kinds and it is punished by law. Crimes have an impact on a society's quality of life and economic development. With a large rise in crime globally, there is a necessity to analyze crime data to bring down the rate of crime. This encourages the police and people to occupy the required measures and more effectively restricting the crimes. The purpose of this research is to develop predictive models that can aid in crime pattern analysis and thus support the Boston department's crime prevention efforts. The geographical location factor has been adopted in our model, and this is due to its being an influential factor in several situations, whether it is traveling to a specific area or livin
... Show MoreThis review discusses the gingival biotypes, their characteristics, analysis based on the measurement of the dentopapillary complex. Also discuss their response to inflammation, surgery, and ridge healing after tooth extraction, their influence in the behavior of the peri-implant tissue
Encryption of data is translating data to another shape or symbol which enables people only with an access to the secret key or a password that can read it. The data which are encrypted are generally referred to as cipher text, while data which are unencrypted are known plain text. Entropy can be used as a measure which gives the number of bits that are needed for coding the data of an image. As the values of pixel within an image are dispensed through further gray-levels, the entropy increases. The aim of this research is to compare between CAST-128 with proposed adaptive key and RSA encryption methods for video frames to determine the more accurate method with highest entropy. The first method is achieved by applying the "CAST-128" and
... Show MoreBreast cancer is the most common malignancy in female and the most registered cause of women’s mortality worldwide. BI-RADS 4 breast lesions are associated with an exceptionally high rate of benign breast pathology and breast cancer, so BI-RADS 4 is subdivided into 4A, 4B and 4C to standardize the risk estimation of breast lesions. The aim of the study: to evaluate the correlation between BI-RADS 4 subdivisions 4A, 4B & 4C and the categories of reporting FNA cytology results. A case series study was conducted in the Oncology Teaching Hospital in Baghdad from September 2018 to September 2019. Included patients had suspicious breast findings and given BI-RADS 4 (4A, 4B, or 4C) in the radiological report accordingly. Fine needle aspirati
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