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.
Abstract Introduction: MMP3 plays a crucial role in the process of bone erosion in the pathomechanism of rheumatoid arthritis (RA). It acts by removing the outer osteoid layer, which allows the osteoclasts to tightly connect and carry out the subsequent damage to the underlying bone. MMP3 can trigger the production of other MMPs like MMP-1, MMP-7, and MMP-9, it plays a pivotal role in the remodeling of connective tissues. Aim of the study: to assess the influence of MMP-3 serum levels and single-nucleotide polymorphisms of rs679620 in the rheumatoid arthritis patients' group in comparison to the control group. Subjects: eighty eight samples, 45 rheumatoid arthritis patients after being referred by their treating physician for regular RA
... Show MorePatients with decompensated cirrhosis have typically prescribed a combination of therapeutic and prophylactic medications. Polypharmacy increases the probability of medication errors and drug related problems. Clinical pharmacists are highly effective at identifying, resolving, and preventing clinically important drug-related problems in their patients' care. The objectives of the study were the identification and classification of drug-related problems, as well as the discussion of these problems with health care providers (physicians, pharmacists, and nurses) and patients. Reduce their incidence as effectively as possible and educate all research participants on the significance of following their prescribed drug regimen
... Show MoreCalcifying epithelial odontogenic tumour (CEOT) is a benign odontogenic neoplasm of epithelial origin that secretes an amyloid‐like protein tending towards calcification. This study aims to describe a case series from Iraq of one of the rarest odontogenic tumours.
Clinical and histopathological analysis of Calcifying epithelial odontogenic tumour cases that are archived at the oral pathology laboratory of the college of dentistry (Baghdad University) from 2000 to 2019.
Six cases of CEOT were regi
Orbital varices are vein dilations in the orbit presenting various symptoms. This scoping review synthesizes existing evidence on their epidemiology, clinical features, and treatment efficacy.
Literature was reviewed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. PubMed and Scopus were searched until April 31, 2024, for articles on clinically diagnosed ocular varices detailing diagnostic methods, treatments, and outcomes. Exclusions were reviews, animal studies, and incomplete case reports. Data on study characteristics, diagnosis, management, and o
SGI2 wild type isolate of Sinorhizobium meliloti was isolated from Medicago sativa (alfalfa) plant which was obtained from Al-Tarmiaa region / Baghdad. Nine auxotrophic mutants were obtained from the SGI2 wild type isolate by mutagenesis with Nitrous acid (HNO2). The SGI2 wild type and the all auxotrophic mutant isolates had two Megaplasmids; pSymA and pSymB. No genetic variations in plasmid number and size were detected when gel electrophoresis was done for plasmid profile detection. Genetic variations by using RAPD-PCR technique were obtained between wild type and auxotrophic mutant isolates. One band was detected in SGI6 gel profile with 1.5 Kb size when OPY-04 primer was used. Using OPB7 primer by using RAPD-PCR technique showed larg
... Show MoreAbstract. This work presents a detailed design of a three-jointed tendon-driven robot finger with a cam/pulleys transmission and joint Variable Stiffness Actuator (VSA). The finger motion configuration is obtained by deriving the cam/pulleys transmission profile as a mathematical solution that is then implemented to achieve contact force isotropy on the phalanges. A VSA is proposed, in which three VSAs are designed to act as a muscle in joint space to provide firm grasping. As a mechatronic approach, a suitable type and number of force sensors and actuators are designed to sense the touch, actuate the finger, and tune the VSAs. The torque of the VSAs is controlled utilizing a designed Multi Input Multi Output (MIMO) fuzzy controll
... Show MoreBackground: Diabetic patients have been reported to be more susceptible to gingivitis and periodontitis than healthy subjects. Many intracellular enzymes like (alkaline phosphatase- (ALP), aspartate aminotransferase- (AST) and alanine aminotransferase- (ALT) that are released outside cells into the gingival crevicular fluid (GCF) and saliva after destruction of periodontal tissue during periodontitis. This study was conducted to determine the periodontal health status and the levels of salivary enzymes (ALP, AST and ALT) of the study and control groups and to correlate the levels of these enzymes with clinical periodontal parameters in each study group. Subjects, Materials and Methods: One hundred subjects were enrolled in the study, with a
... Show MoreAn experiment was carried out in the vegetables field of Horticulture Department / College of Agriculture / Baghdad University , for the three seasons : spring and Autumn of 2005 , and spring of 2007 , to study the type of gene action in some traits of vegetative , flowery growth , yield and its components in summer squash crosses (4 x 3 = cross 1 , 3 x 7 = cross 2 , 3 x 4 = cross 3 , 3 x 5 = cross 4 , 5 x 1= cross 5 , 5 x 2 = cross 6). The study followed generation mean analysis method which included to each cross (P1 , P2 , F1 , F2 , Bc1P1 , Bc1P2) , and those populations obtained by hybridization during the first and second seasons. Experimental comparison was performed in the second (Two crosses only) and third seasons , (four crosses)
... Show MoreBackground: Periodontal diseases are one of the major dental pathologies that affect human populations worldwide at high prevalence rates The term periodontal disease usually refers only to plaque related inflammatory disease of the dental supporting tissues. Mouth rinses which act as an anti-plaque agents mostly used as adjuncts to oral hygiene. Aims of the study: To Estimate and compare the effects of Aloe vera relative to chlorhexidine on the clinical periodontal parameters (plaque index, gingival index, bleeding on probing). Material and method: A total of 44 subjects with plaque-induced gingivitis, baseline of data were collected for (PLI, GI, and BOP) and underwent oral hygiene instruction, scaling and polishing, then divided into:
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