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.
Vaccination against novel Coronavirus (SARS-CoV-2) become highly recommended. In Iraq, three vaccines are available. They are Pfizer-Biontech, Oxford-AstraZenica, and Sino harm vaccines. A cross-sectional retrospective study was performed to a total of 2399 individual who are vaccinated with one of the available vaccines. People who are infected with Covid-19 before and/or after vaccination of either studied SARS-CoV-2 vaccines were also involved in this study (1175 case). Signs and symptoms have been reported for each of confirmed positive cases of Coronavirus disease. Statistical data analyses were applied to reveal the effect of different SARS-CoV-2 vaccines on the incidence of novel coronavirus disease among Iraqi population. Also, the
... Show MoreBackground: Imaging has a critical role in the diagnosis and evaluation of cardiac diseases, beginning with chest radiography and fluoro-scopy and progressing to coronary angio-graphy, echocardiography, nuclear medicine and recently multidetector computed tomo-graphy (MDCT) as well as magnetic resonance (MR) imaging
Objective: To highlight the role of Multi-detector CT in the evaluation of coronary artery disease and its importance of being noninvasive diagnostic technique.
Methods: A cross sectional study for 20 patients. Patients were asked to fast 6 hours prior to the examination and the patients with heart rates above 65 beats per minute were given cardio-
... Show MoreAim: To learn more about Oral Lichen Planus Iraqi patients, including their background information, symptoms, and prognosis. Materials and Methods: From the Oral and Maxillofacial Pathology Department, College of Dentistry, Baghdad University, we retrospectively reviewed the medical records of 68 patients with a histologically confirmed clinical diagnosis of oral lichen planus and subsequently contacted the patients by phone to evaluate their prognosis. Results: Females were more likely than males to experience severe pain; the reticular form of Oral Lichen Planus was the most prevalent at 38.2%, but the erosive type was more prevalent among females. Only 53 of 68 patients responded to phone calls. More than 37% of those respondents reporte
... Show MoreThe childhood is an important stage in building the character of the individual and where children acquire the most important experiences . providing proper growth requirements of the things follows assist them in achieving a stable and together Childhood is the violence of indicators that can determine whether personal or illness social .the social circumstances experienced community Iraqi and continues through crises successive wars and explosions and the displacement and that these events may lead to changes in the social behavior of individuals and may contribute to the spread of violence in Iraqi society and observed various forms in (home, school, street, and work), so it was natural that a child the first affected by these waves o
... Show MoreThe formal investigation of the interior spaces of the residential bedrooms for children with autism is one of the basic tasks that should be known by the interior designer. Achieving an atmosphere compatible with his health condition, which contributes to generating a sense of spatial intimacy through the design dimension provided by the interior designer and his tireless endeavor to meet the needs of the child in an internal environment that achieves the functional dimension and spiritual approaches that enhance the child’s sense of spatial belonging and contribute to improving his mood and this positively reflects on his behavior and social integration. The current research has reached the most important design criteria that must be
... Show MoreThis work aimed to use conventional PCR to identify Salmonella spp. that were isolated from diarrheal children and healthy and diarrheic dogs based on four virulence genes, hilA, stn, spvR, and marT. Sixteen Salmonella isolates including: 9 isolated from children's diarrhea from three species (S. Typhimurium, S. Enteritidis, S. Typhi) and seven isolated from dogs including (S. Typhimurium, S. Enteritidis, S. Muenchen), were identified primarily by several methods. The PCR products of the 16S rRNA gene were sequenced and examined using BLAST analysis to find differences and similarities between these Iraqi isolates and already-known global strains in order to construct the phylogenetic tree of S.
... Show MoreBalad –Rooz is considered as one of the endemic foci of Schistosomiasisin Iraq.A survey was performed during the first three months of 2002 in fewprimary schools in Balad –Rooz to assess the prevalence among them.
An 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 MoreObesity is a risk factor for a number of chronic conditions. Obesity is clinically defined using the body mass index (BMI) as weight in kg divided by (height)2 in m2 correlated with obesity. Currently, genetic markers of obesity are being studied. This study focused on the association between the angiotensin II receptor AGTR1 gene (A1166C) and fat mass and obesity-associated protein also known as alpha-ketoglutarate-dependent dioxygenase (FTO) (rs9939609) in obese children and adolescents patients in Rostov region, Russia. Five-hundreds of Russian nationality child and adolescent were recruited for the obesity-control studies. The relationship between the A1166C polymorphism of the AGTR1 gene in
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