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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>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.</p>
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Publication Date
Tue Mar 30 2021
Journal Name
Journal Of Economics And Administrative Sciences
Using Iterative Reweighting Algorithm and Genetic Algorithm to Calculate The Estimation of The Parameters Of The Maximum Likelihood of The Skew Normal Distribution
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Excessive skewness which occurs sometimes in the data is represented as an obstacle against normal distribution. So, recent studies have witnessed activity in studying the skew-normal distribution (SND) that matches the skewness data which is regarded as a special case of the normal distribution with additional skewness parameter (α), which gives more flexibility to the normal distribution. When estimating the parameters of (SND), we face the problem of the non-linear equation and by using the method of Maximum Likelihood estimation (ML) their solutions will be inaccurate and unreliable. To solve this problem, two methods can be used that are: the genetic algorithm (GA) and the iterative reweighting algorithm (IR) based on the M

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Publication Date
Sat Jun 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
The Efficiency Of Physics Forceps In Comparison To The Conventional Dental Extraction Forceps: A randomized Clinical Trial
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Background: Tooth extraction is one of the most commonly performed procedures in dentistry. It is usually a traumatic process often resulting in immediate destruction and loss of alveolar bone and surrounding soft tissues. Various instruments have been described to perform atraumatic extractions which can prevent damage to the paradental structures. The physics forceps is one of those innovations in dental extraction technologies that claim to provide an efficient means for atraumatic dental extractions. Materials and method: A randomized clinical trial was conducted to compare the physics forceps with the conventional forceps for the removal of 28 mandibular single rooted teeth under the following parameters: incidence of crown, root, b

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Publication Date
Fri Dec 15 2023
Journal Name
Iraqi Journal Of Laser
The Reliability of Two Different Laser Wavelengths in Inducing Bone Healing Around Dental Implants: Comparative Clinical Trial
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Background/purpose: Dental implantology involves different treatments that have been used in conjunction with dental implant surgery to increase implant stability and bone regeneration process. Photobiomodulation( PBM) can be one of these techniques. The objective of this study was to evaluate the bone density around implants. Materials and methods: in this study, 10 individuals had 20 implants inserted in the posterior of their mandibles. each patient received two implants the left side served as the control whereas the right side served as the study group with a diode laser (same patients). measurements were made for each implant. Measurements were obtained using cone-

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Publication Date
Tue Oct 25 2016
Journal Name
Iosr Journal Of Pharmacy And Biological Sciences
Molecular study of blaVEB-1 gene in Proteus mirabilis isolated from clinical Samples from Baghdad City’s hospitals
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From different hospitals in Baghdad city, 25 clinical isolates of Proteus spp. were collected from different clinical samples, all isolates were identified as Proteus mirabilis by using bacteriological and biochemical assays in addition to Vitek-2 identification system. 15 (60%) isolates were identifying as Proteus mirabilis. The susceptibility of P. mirabilis isolates towards cefotaxime and ceftazidime was (66.6 %), (20%) consecutively; while extended spectrum β-lactamases producing P. mirabilis percentage was (30.7 %). Because blaVEB-1 was documented as an important indicator for increasing risk of extended spectrum beta ßlactamases producing P. mirabilis isolates that began to spread from many geographic area to Far east which inc

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Publication Date
Mon Jul 27 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Augmentation of the localized bony defects with synthetic bone substitute in simultaneous dental implant surgery(Clinical study)
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Background: Simultaneous and staged guided bone regeneration (GBR) is one of the several surgical techniques that have been developed in the past two decades to regenerate bone and thus to allow implant placement in compromised sites (fenestration and dehiscence). It is a surgical procedure that consists of the placement of a cell-occlusive physical barrier between the connective tissue and the alveolar bone defect. The treatment concept advocates that regeneration of osseous defects is predictably attainable via the application of occlusive membranes, which mechanically exclude non-osteogenic cell populations from the surrounding soft tissues, thereby allowing osteogenic cell populations originating from the parent bone to inhabi

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Assessing the Activity of Renin and GST in the Serum of Ladies Suffering from Polycystic Ovary Syndrome and COVID-19 to Predict the Danger of Cardiac Disease
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The coronavirus-pandemic has a major impact on women's-mental and physical-health. Polycystic-ovary-syndrome (PCOS) has a high-predisposition to many cardiometabolic-risk factors that increase susceptibility to severe complications of COVID-19 and also exhibit an increased likelihood of subfertility. The study includes the extent of the effect of COVID-19-virus on renin-levels, glutathione-s-transferase-activity and other biochemical parameters in PCOS-women. The study included 120 samples of ladies that involved: 80 PCOS-patients, and 40 healthy-ladies. Both main groups were divided into subgroups based on COVID-19 infected or not. Blood-samples were collected from PCOS-patients in Kamal-Al-Samara Hospital, at the period between Decembe

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Publication Date
Mon Jan 01 2024
Journal Name
Cytokine
Evaluation of IL-8, nitric oxide and macrophage inhibitory factor as clinical circulatory markers in patients with cutaneous leishmaniasis, before and during sodium stibogluconate treatment
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The clinical spectrum of cutaneous leishmaniasis (CL), an intracellular parasitic pathogen, ranges from a single sore healing to chronic crusty lesions with a manifestation of treatment resistance. The complicated interaction between Leishmania bodies and the early immune response, including innate and adaptive mechanisms, determines the evolution of nodules. This study examined the levels of the chemoattractant interleukin 8 (IL-8), pro-inflammatory nitric oxide (NO), and immunoregulatory macrophage inhibitory factor (MIF) in the serum of subjects recently diagnosed with cutaneous leishmaniasis, in parallel with patients being monitored during consecutive sodium stibogluconate (Pentostam) treatment. A total of 161 serum samples of newly di

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Publication Date
Sun Feb 28 2021
Journal Name
Journal Of Economics And Administrative Sciences
The use of the genetic algorithm to estimate the parameters function of the hypoexponential distribution by simulation
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In this research, the focus was placed on estimating the parameters of the Hypoexponential distribution function using the maximum likelihood method and genetic algorithm. More than one standard, including MSE, has been adopted for comparison by Using the simulation method

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Publication Date
Thu Sep 26 2019
Journal Name
Al-kindy College Medical Journal
Administration of I.V. lidocaine before induction of general anesthesia prolong suxamethonium action in caesarian section surgeries. clinical assessment--------
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Background: Known as suxamethonium or succinylcholine, is a medication used to cause short-term paralysis as part of general anesthesia. The duration of operation is one of the important factors accounting to the success of the operation. Simple safe available drug can change the plan of anesthesia.

Objective:  The purpose of this study was to assess adding Lidocaine three minutes intravenously before induction of general anesthesia on the duration of optimum prolongation the action of  Suxamethonium  . With other group with regular meth

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Publication Date
Mon Aug 31 2020
Journal Name
Bmc Oral Health
The success of using 2% lidocaine in pain removal during extraction of mandibular premolars: a prospective clinical study
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Abstract<sec><title>Background

The purpose of this study was to evaluate the anesthetic effectiveness of a buccal infiltration technique combined with local massage (using 2% lidocaine) in the extraction of mandibular premolars to be utilized as an alternative to the conventional inferior alveolar nerve block.

Methods

Patients eligible included any subject with a clinical indication for tooth extraction of the mandibular 1st or 2nd premolars. All patients were anesthetized buccally by local infiltration technique followed by an external pressure applied for 1 min directly over the injection area. In each case, another local

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