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.
The effect of mental and physical health on the feelings of subject welfare is known as health-related quality of life. The chronic obstructive pulmonary disease is a common respiratory diseases. Assessment of health-related quality of life is considered important in such chronic disease. The objective of the current study was to measure health-related quality of life in a sample of chronic obstructive pulmonary patients in AL- Diwanyia city/Iraq. This study was carried out on 150 already diagnosed COPD patients who attended to the Center of Respiratory Diseases/AL-Diwaniyah Teaching Hospital during September 2019 to January 2020. The Arabic version of St George’s Respiratory Questionnaire was used to asses
... Show MoreReverse Osmosis (RO) has already proved its worth as an efficient treatment method in chemical and environmental engineering applications. Various successful RO attempts for the rejection of organic and highly toxic pollutants from wastewater can be found in the literature over the last decade. Dimethylphenol is classified as a high-toxic organic compound found ubiquitously in wastewater. It poses a real threat to humans and the environment even at low concentration. In this paper, a model based framework was developed for the simulation and optimisation of RO process for the removal of dimethylphenol from wastewater. We incorporated our earlier developed and validated process model into the Species Conserving Genetic Algorithm (SCG
... Show MoreSeventy of Klebsiella pneumoniae isolates had been collected from some Hospitals in Baghdad city from October to December 2017. The 70 isolates were taken from diverse clinical specimens. All K. pneumoniae isolates were identified based on API 20 E and Vitek2 compact system. Antibiotics sensitivity test was carried out toward 10 antibiotics using discs diffusion method. The level of antibiotics resistance was 81.42% for Ceftriaxone, whereas the low level of antibiotics resistance was 37.14% for Piperacillin. K. pneumoniae isolates were typed genotypically by using two different methods of amplification, multiplex-PCR and enterobacterial repetitive intergenic consensus (ERIC)-PCR typing methods. Results showed that out of 70 isolates, there
... Show MoreBiomarkers to detect Alzheimer’s disease (AD) would enable patients to gain access to appropriate services and may facilitate the development of new therapies. Given the large numbers of people affected by AD, there is a need for a low-cost, easy to use method to detect AD patients. Potentially, the electroencephalogram (EEG) can play a valuable role in this, but at present no single EEG biomarker is robust enough for use in practice. This study aims to provide a methodological framework for the development of robust EEG biomarkers to detect AD with a clinically acceptable performance by exploiting the combined strengths of key biomarkers. A large number of existing and novel EEG biomarkers associated with slowing of EEG, reductio
... Show MoreBackground: Currently there are four general approaches to correct refractive errors: refractive corneal surgery, crystalline lens surgery and implantation of an intraocular lens in anterior or posterior chamber.
Objective: To evaluate the predictability, safety and stability of toric phakic implantable collamer lens implantation to correct moderate to high myopic astigmatism. in Eye Specialty Private Hospital, Baghdad, Iraq.
Type of the Study: a prospective non randomize intervention study.
Methods: 60 eyes of 40 patients underwent implantation of a toric implantable collamer lens (V4c design).Mean spherical refraction was ₋11.32 diopter
... Show MoreBackground: Currently there are four general approaches to correct refractive errors: refractive corneal surgery, crystalline lens surgery and implantation of an intraocular lens in anterior or posterior chamber. Aim: To evaluate the predictability, safety and stability of toric phakic implantable collamer lens implantation to correct moderate to high myopic astigmatism. Methods: Sixty eyes of 40 patients underwent implantation of a toric implantable collamer lens (V4c design) in the Eye Specialty Private Hospital, Baghdad, Iraq were studied. The mean spherical refraction was -11.32±3.17 diopter (D) with a range of -6.00 to -18.00 D and a mean cylinder of -2.61±1.16 with range of -1.00 to -5.50 D. The outcome measures that evaluat
... Show MoreWas conducted neutralize content Albulamedi for local isolates using Alacardan dye orange selection experience showed loss of local isolates resistant life antibiotic ampicillin, chloramphenicol