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.
The diagnoses system of varicose disease has a good level of performance due to the complexity and uniqueness in patterns of vein of the leg. In addition, the patterns of vein are internal of the body, and its features are hard to duplicate, this reason make this method not easy to fake, and thus make it contains of a good features for varicose disease diagnoses. The proposed system used more than one type of algorithms to produce diagnoses system of varicose disease with high accuracy, in addition, this multi-algorithm technique based on veins as a factor to recognize varicose infection. The obtained results indicate that the design of varicose diagnoses system by applying multi- algorithms (Naïve Bayes and Back-Propagation) produced new
... Show MoreThe current research aims at studying the precise and big movement skills and the ability
of the diabetic child to do them, The research sample consisted of ten diabetic children who
go to the Diabetes Center of Research that is apart of the Yarmook hospital. The sample was
chosen according to the intentional method and it wasn’t possible to have bigger sample
because the parents of the children didn’t agree for fear on the children’s health. It was
apparent through the research that the diabetic child performs the big movement skills better
than his ability to do the precise movement skills because they require accuracy,
concentration and high attention.
The most prominent recommendations and suggestions.
Infertility represents a growing health problem in Mosul city and worldwide. Infertility defined as a failure to induce pregnancy after unprotected sexual intercourse for more than 12 months. Infertility in male is a multifactorial complex pathology that leads to different types of problems. This work try to explore the correlation between glycosylation gap and seminal fructosamine and another parameter in the young male patient in Mosul city. The study included 50 subjects with age range 19-29 year with BMI 18-26. The infertility group include 25 patients newly diagnosed with infertility before starting any treatment; have no infection and no structural abnormality. The control group included 25 healthy subjects. HbA1c, fructosamine, Se
... Show MoreThe present study was performed to evaluate the level of some risk factors (biochemical and immunological) in hypothyroid Iraqi patients considering the different thyroid functional states (hypothyroidism and subclinical hypothyroidism).The study includes 82 patients clinically diagnosed with hypothyroidism. Three study groups have been investigated: (47 clinical hypothyroid patients, 12 subclinical hypothyroid patients 23 healthy individuals) of different ages. This study, show that the proportion of females (83.3 %), (87.2%) in subclinical and clinical hypothyroidisim respectively higher than the proportion of males (16.7%),(12.8%) in subclinical and clinical hypothyrodism respectively of the total patients.The majority of subclinical hyp
... Show MoreBackground: Anterior disc displacement with reduction (ADDWR) is the most common form of the internal derangement (ID) of temporomandibular joint (TMJ). It is a painful progressive dysfunction and clinically characterized by reciprocal clicking due to shift in the disc anteriorly in relation to the condyle and fossa during mandible elevation. Minimally invasive therapy such as intra-articular injection of platelet-rich plasma (PRP) has been used. PRP is a natural autologous product with a high platelet concentration obtained by centrifugation process to enhance tissue healing through several growth factors (GFs), which are released after endogenous activation. The aim of this study is to assess this technique which is increasingly used toda
... Show MoreWhile hepatitis viruses A–E are established, emerging evidence points to additional, novel viral hepatitis agents. The torqueteno virus (TTV) has garnered interest due to its prevalence among patients with hepatitis, suggesting potential hepatotropism.
This study was conducted to detect TTV antigens in individuals infected with chronic hepatitis B (HBV) and/or C (HCV) using molecular diagnostics and to explore any associations between TTV presence and demographic characteristics of the cohort.
The third most ordinarily cancer type diagnosed in male and is Colorectal cancer (CRC) and it is widely spread in developed countries. Most of CRC arises from development of adenomatous polyps. The current study aimed to determine whether serum retinol binding protein 4 (RBP4) and Nesfatin-1 can be used as a novel biomarker for diagnosis of CRC. Nesfatin-1, RBP4 and Thyroid Hormones (T3, T4 and TSH) levels were measured in fifty sera of male patients suffering from CRC before chemotherapy initiation treatment as G1, G2 after first chemotherapy cycle dose and G3 after second chemotherapy cycle dose compared with twenty five male volunteers as a control G4. The results showed a significant increased in RBP 4 concentration in G3 and a signific
... Show MoreAudio classification is the process to classify different audio types according to contents. It is implemented in a large variety of real world problems, all classification applications allowed the target subjects to be viewed as a specific type of audio and hence, there is a variety in the audio types and every type has to be treatedcarefully according to its significant properties.Feature extraction is an important process for audio classification. This workintroduces several sets of features according to the type, two types of audio (datasets) were studied. Two different features sets are proposed: (i) firstorder gradient feature vector, and (ii) Local roughness feature vector, the experimentsshowed that the results are competitive to
... Show MoreDry environment study forms an important part in the field of applies geomorphology for
the wide rang of its lands which form most of the world, homeland, and Iraqi lands specially,
and what these lands include of scientific cases which needs to be searched and investigated.
They include rocks, land shapes, water supplements, its ancient soil and its active diggings are
all signs of the environment changes and effects that these lands under take over time, with
continuous remains of its features of characteristics under geo morphological dry
circumstances which works to slow change average, when the geomorphologic fearers varies
in this environment and what it contain of important economical resource. As to participl