Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.
Growth is a multifactorial process influenced by genetic, nutritional, hormonal, psychosocial and other factors including the general health of a child. Epilepsy defined as a chronic condition characterized by recurrent clinical events or epileptic seizures, which occur in the absence of a metabolic or toxic disease the drugs that use in the treatment of this condition can affect patients growth due to their mechanisms of action. This study aimed to evaluate the effect of some antiepileptic drugs on growth (height and weight) in children with epilepsy. This work involved 51 newly diagnosed children with a different form of epilepsy (Generalized, absent and partial). Patients divided into three groups according to the treatment (group one
... Show MoreFeline calicivirus (FCV) is a highly contagious virus that causes a mild to severe respiratory infection and oral disease in cats. It is especially common in shelters and breeding colonies, and often infects young cats, this study contained 50 different cats and samples were collected from September 2020 to January 2021. Samples taken by swabs from oropharyngeal and conjunctival area depending on the lesion of FCV infection to investigate viral nucleic acid from collected swabs, then extracting RNA from the swabs and converting it to a cDNA molecule, and last detecting the open reading template gene 2 using specific primer, these samples isolated from veterinary clinics, and shelters, all samples were collected from Baghdad city .Ra
... Show MoreIH Abdul-Abbas, QJ Rashid, M RasimYounus, PalArch's Journal of Archaeology of Egypt/Egyptology, 2021 - Cited by 9
Background: Bowel cancer is the most prevalent digestive system cancer and is the 4th largest cause of cancer-related death worldwide. In Iraq, colon and rectal cancer (CRC) is the 6th most common malignancy in males and the 5th in females. This cancer is sluggish in growth, which gives a window of opportunity to screen for both precursor lesions and early cancer. The Cluster of Differentiation 47 (CD47) protein is a type of transmembrane glycoproteins found on nearly all human cells, including non-hematopoietic and hematopoietic cells. CD47 promotes CRC growth by triggering angiogenesis and apoptosis of tumor cell. Objectives: To evaluate the immunohistochemical expression of (CD47) in various colorectal samples from Iraqi patients
... Show MoreOlfactory impairment and abnormal frontal EEG oscillations are recognized as early markers of Alzheimer’s disease (AD). Using a publicly available olfactory EEG dataset of 35 subjects spanning normal cognition, amnestic mild cognitive impairment (aMCI), and AD, each with MMSE scores and demographics, stimulus-locked epochs from four electrodes (Fp1, Fz, Cz, Pz) were processed with wavelet-based time–frequency analysis. Band-limited power ratios (delta, theta, alpha, beta) were computed as log-transformed post-odor/baseline values and aggregated to subject-level features. Statistical analyses revealed graded attenuation of odor-evoked frontal (Fp1) band-power ratios across groups, with significant differences in several band–od
... Show MoreThyroid disease is a common disease affecting millions worldwide. Early diagnosis and treatment of thyroid disease can help prevent more serious complications and improve long-term health outcomes. However, thyroid disease diagnosis can be challenging due to its variable symptoms and limited diagnostic tests. By processing enormous amounts of data and seeing trends that may not be immediately evident to human doctors, Machine Learning (ML) algorithms may be capable of increasing the accuracy with which thyroid disease is diagnosed. This study seeks to discover the most recent ML-based and data-driven developments and strategies for diagnosing thyroid disease while considering the challenges associated with imbalanced data in thyroid dise
... Show MoreHuman cytomegalovirus (HCMV) has a worldwide distribution and extremely common infections. The presence of HCMV genome and antigens has been detected in many kinds of human cancers especially breast cancer. In Iraq, the incidence of breast cancer generally exceeds any other type of malignancies among Iraqi population. The study was performed in the period between October 2016 and June 2017 in Central public health laboratory/Baghdad. It involve samples from 90 women including 60 breast cancer patients, 20 benign tumor patients, and 10 normal breast tissues. A blood sample was obtained from each woman included in this study. Anti-HCMV IgG antibody was presented in 9/10 (90%) of normal women, benign breast tumor patients 19/20 (95%) and malig
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