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
Hexapod robot is a flexible mechanical robot with six legs. It has the ability to walk over terrain. The hexapod robot look likes the insect so it has the same gaits. These gaits are tripod, wave and ripple gaits. Hexapod robot needs to stay statically stable at all the times during each gait in order not to fall with three or more legs continuously contacts with the ground. The safety static stability walking is called (the stability margin). In this paper, the forward and inverse kinematics are derived for each hexapod’s leg in order to simulate the hexapod robot model walking using MATLAB R2010a for all gaits and the geometry in order to derive the equations of the sub-constraint workspaces for each
... Show MoreThe objective of this study is to determination the content of some heavy metals (lead, cadmium, chromium) in colored tattoo stickers. twelve kinds of colored tattoo stikcers were collected from Baghdad markets, it was estimated heavy metals using atomic absorption spectrophotometer (Shimadzu A5000). The results indicated the concentrations of lead in all samples (1.61_1.00 mg / kg) and chromium in the three samples (0.85_0.97 mg / kg) while other samples are free of chromium , and cadmium. These elements are the components of printing inks and dyes in tattoo stickers, and this does not conform to the health and safety conditions for the packaging of food according to the organizations of the health and safety of
... Show MoreBackground: Therapeutic communication is the basis of interactive relationships among nursing team and their children: that affords opportunities to establish rapport, understand the client’s experience, formulate individualized or client interventions and optimize health care resources.
Objectives: The main aim of the study is to determine the Effectiveness of Education Program on Nurses’ Knowledge about Communication Skills with Children.
Methodology: A quasi-experimental study was conducted in Children Welfare Teaching Hospitals from 7th, October 2018 to the 20th, May 2019. The program and instruments have been constructed by the researcher for the purpose of the study. A non- prob
... Show MoreOrphenadrine is an anticholinergic ,antimuscarinic , centrally acting skeletal muscle relaxant .It presents in the form of citrate and HCl salts which are used in treatment of the symptoms of mild Parkinson's disease and also it is used as adjuvant with other drugs in the therapy .
Many trials were made to formulate Orphenadrine citrate as a plain tablet using wet granulation or direct compression technique in order to get a satisfactory formula through studying the effect of various factors such as binders , diluents and disintegrants types .
The best formula was obtained by using Poly Vinyl Pyrolidine (PVP) as a binder also the results indicated that starch and mannitol
... Show MoreChronic myeloid leukemia (CML), is one of the myeloproliferative disorders with a characteristic cytogenetic abnormality resulting in the BCR-ABL fusion gene. Imatinib Mesylate is an effective agent for treating patients in all stages of CML. According to the annual Iraqi cancer registry 2019, the total number of chronic myeloproliferative disorders was 338. The percentage and incidence rates were 0.94% and 0.86%, respectively, with a higher incidence rate in males than females (1.12 in males and 0.60 in females). In this registry, no details about CML, so this study aimed to estimate the number of CML patients who attended the national center of hematology from 2005 until 2020 and investigate their epidemiological and clinic-pathol
... Show MoreBackground : Breast cancer is the most common cancer of
women. When breast cancer is detected and treated early,
the chances for survival are better. Surgery is the most
important treatment for non-metastatic breast cancer.
Al-Kindy Col Med J 2008 Vol.5(1) 40 Original Article
Objectives : The aim of this study is to review different
clinical presentation and to evaluate types of surgical
procedures and complications in treatment of nonmetastatic breast cancer.
Method : During the period from Jun 1998 to May 2005,
93 patients with non-metastatic breast cancer were
diagnosed and treated surgically in 2 hospitals in Baghdad (
Hammad Shihab military hospital and Al-Kindy teaching
hospital).
Results : Wo