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 Objective: Comparison of femtosecond small incision lenticule extraction (FS-SMILE) versus Femtosecond laser Insitu keratomileusis (FS-LASIK) regarding dry eye disease (DED) and corneal sensitivity (CS) after those refractive surgeries. Methods: A comparative prospective study conducted for a period of 2 years; from March 2017 until February, 2019. Enrolled patients were diagnosed with myopia. Fifty patients (100 eyes) were scheduled for bilateral FS-SMILE and the other 50 patients (100 eyes) had been scheduled for bilateral FS-LASIK. Both groups were followed for six months after surgery. The age, gender, and preoperative refraction for both groups were matched. Complete evaluation of dry eye disease had been
... Show MoreAbstract Objective: Comparison of femtosecond small incision lenticule extraction (FS-SMILE) versus Femtosecond laser Insitu keratomileusis (FS-LASIK) regarding dry eye disease (DED) and corneal sensitivity (CS) after those refractive surgeries. Methods: A comparative prospective study conducted for a period of 2 years; from March 2017 until February, 2019. Enrolled patients were diagnosed with myopia. Fifty patients (100 eyes) were scheduled for bilateral FS-SMILE and the other 50 patients (100 eyes) had been scheduled for bilateral FS-LASIK. Both groups were followed for six months after surgery. The age, gender, and preoperative refraction for both groups were matched. Complete evaluation of dry eye disease had been
... Show MoreThis study was carried out to assess genetic diversity of ten cultivars of Rice (Oryza sativa L.). One of DNA markers based on Polymerase Chain Reaction (PCR) was used namely DAF markers (DNA Amplification Fingerprint). Six primers were tested, the results showed, that no amplification products using the primers OPD.14 and OPM.5. Two primers (OPX.8 and OPT.2) produced monomorphic band across all cultivars, while only two primers generated polymorphic bands. The number of total bands produced from one of them (OPN.7) were sixteen. Also this primer produced ten polymorphic profiles (DAF patterns) which were unique to the ten cultivars that could be distinguished. The number of total bands generated by primer OPX.1 were thirteen and this prim
... Show MorePhilosophy of Abstraction and Construction of Space in Contemporary Iraqi Theater Abstract The aesthetic and stylistic features in the theatrical play develop according to the changes of the age and its developments. Stylistic forms different from the prevailing and familiar in the visions of contemporary theatre directors emerged which adopt the removal of traditional awareness in the creation of the visual space of theatrical discourse, through adopting contemporary formats and structures which depend on the abstraction representations in the aesthetic construction of the contemporary theatre show which is one of the prerequisites of the postmodern theater, that produces aesthetic data based on abstract metaphors in the formation of th
... Show MoreAbstract
Antibiotic treatment of S.typhi is difficult as compared to treatment of acute infection. Antibiotic resistance carried against S.typhi by using 6 kinds of antibiotics from different classes, their results showed that all isolates were high resistance to Ampicillin (99%), Gentamicin (98%), Amikacin (79%) and less resistances Trimethoprim (55%) , Imipenem (60%) and Ceftriaxone(66%) .
The present study focused on the molecular detection of Wzx flippase, Wzy polymerase genes in some Salmonella typhi isolates, Samples were collected from typhoid patients by classical lab work. Antibiotics susceptibilit
... Show MoreFourty -tow Libyan patients with hydatidosis, which were
referred to by the physician for the detection of hydatid cyst by X - rays, Ultrasound and CT-Scan. The infection rate in females and males was(69% )and (31% )respectively .The highest rate 69% was in the liver, followed by the lung( 23.8%), the brain (4.8%) and kidney
(2.4%).
A total of 42 serum samples were gathered from Libyan patients infected with hydatidosis, 33 serum samples from patients cases with other parasitic diseases than hydatidosis and 30 serum samples from healthy normal controls and were tested by Dot-ELIZA utilizing antigen B from sheep hy
... Show MoreThe aim of the present study was to demonstrate the possible role of statins on the inflammatory biomarkers in patients with periodontal disease (PD) This cross-sectional study involved 74 patients with PD and/or dyslipidemia divided into Group A: 34 patients with PD (nonstatins users); Group B: 40 patients with PD (statins users); and Group C: 30 healthy controls. Total cholesterol (TC), triglyceride (TG) and high-density lipoprotein, C-reactive protein (CRP), interleukin-6 (IL-6), tumor necrosis factor alpha (TNF-α), and malondialdehyde (MDA) were measured . Blood pressure prolife and indices of PD were evaluated in each group. Statistical analysis was conducted by using SPSS version 20.0.
Abstract
Objective(s): to Evaluation of Parents’ Knowledge about Nutritional Management of kids with Phenylketonuria; to Identify the association between parents’ Knowledge about nutritional management then their demographic variables of fathers, mothers (parents age, residence then socioeconomic position).
Methodology: A non-experimental project; was accompanied on parents of phenylketonuria kid in Baghdad town since the period 3 June to 5 October 2022. A Non-probability sample (convenience) of 35 PKU children and their parents (father and mother) was selected Purposively from the hospitals that are select for the study. A survey is built for the purpose of the educa
... Show MoreObjective(s): The main aim of the study is to determine the level of burden on mothers toward children with anorectal malformation.
Methodology: A descriptive study was carried out at Welfare Pediatric Teaching Hospital and Central Pediatric Teaching Hospital in Baghdad City. From November 15th, 2017 to April 29th, 2018. Convenient sample comprised of (140) children mothers with anorectal malformation were interviewed for the study. The instrument of study is composed of six domains related mothers' burden toward psychosocial burden as a result of child with anorectal malformation. Validity of the study instrument was determined through a panel of experts and the reliability of the questionnaire is determined in a pilot study among (1