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.
Background: Hand, foot, and mouth disease is viral disease caused commonly by coxsackie virus A16 virus. It is a mild disease and children usually recover with no specific treatment within 7 to 10 days. Rarely, this illness may be associated with aseptic meningitis were patient may need hospitalization.
Objective: To determine significance of clinical features of hand, foot and mouth disease.
Methods: A cross sectional study of cases with clinical features of hand, foot and mouth disease visiting the dermatological consultation unit of Al Kindy teaching hospital. Sampling was for Zyona and Edressi Quarter patients over the period of 1st December 2017
... Show MoreChronic kidney disease (CKD) is a permanent loss of kidney function which is diagnosed when the glomerular filtration rate (GFR) is under 60 ml\min\1.73m2 for more than three months. The present study was conducted at Kidney Transplant and Dialysis Center in the Medical City in Baghdad from October 2018 to April 2019. Sixty CKD patients with an age ranged of 40 to 65 years and 25 healthy subjects were involved in this study. Blood samples were collected to evaluate the levels of kidney function parameters and thyroid hormones. The levels of urea, creatinine and uric acid showed highly significant (p ≤ 0.01) increases in CKD patient in comparison with the control group, while the values of GFR and creatinine clearance showed highly
... Show MoreCeliac disease (CD) is the most common genetically - based disease in correlation with food intolerance. The aim of this study is to measure the activity of ALT enzyme and purify enzyme from sera women with celiac disease. Alanine aminotransferase (ALT) activity has been assayed in (30) women serum samples with celiac disease, age range between (20-40) year and (30) serum of healthy women as control group, age range between (22-38) year. In the present study, the mean value of ALT activity was significantly higher in patients with celiac disease than healthy group (p<0.01). The ALT enzyme was partial purified from sera women with celiac disease by dialysis, gel filtration using Sephadex G- 50 and ion exchange chromatography using DEAE- cell
... Show MoreCeliac disease (CD) is the most common genetically - based disease in correlation with food intolerance. The aim of this study is to measure the activity of ALT enzyme and purify enzyme from sera women with celiac disease. Alanine aminotransferase (ALT) activity has been assayed in (30) women serum samples with celiac disease, age range between (20-40) year and (30) serum of healthy women as control group, age range between (22-38) year. In the present study, the mean value of ALT activity was significantly higher in patients with celiac disease than healthy group (p<0.01). The ALT enzyme was partial purified from sera women with celiac disease by dialysis, gel filtration using Sephadex G- 50 and ion exchange chr
... Show MoreThe influence of Toxoplasma gondii in the pathogenesis of hepatic disease has lately had considerable attention. The objective of this study is to assess the seroprevalence of T. gondii infection in patients with chronic liver disease from Baghdad-Iraq. All patients have attended Gastroenterology and Hepatology Teaching Hospital, Medical city in Baghdad, Iraq An analytical case–control study was achieved from September to November 2018. Seventy male patients with chronic liver disease (CLD) and 70 control males (free of chronic liver diseases) participated in this study, their ages were between (18-80) years old. Serum samples were taken from all subjects and were analysed with enzyme-linked imm
... Show MoreThe Electric Discharge (EDM) method is a novel thermoelectric manufacturing technique in which materials are removed by a controlled spark erosion process between two electrodes immersed in a dielectric medium. Because of the difficulties of EDM, determining the optimum cutting parameters to improve cutting performance is extremely tough. As a result, optimizing operating parameters is a critical processing step, particularly for non-traditional machining process like EDM. Adequate selection of processing parameters for the EDM process does not provide ideal conditions, due to the unpredictable processing time required for a given function. Models of Multiple Regression and Genetic Algorithm are considered as effective methods for determ
... Show MoreThe diagnoses system of varicose disease has a good level of performance due to the complexity and uniqueness in patterns of vein of the leg. In addition, the patterns of vein are internal of the body, and its features are hard to duplicate, this reason make this method not easy to fake, and thus make it contains of a good features for varicose disease diagnoses. The proposed system used more than one type of algorithms to produce diagnoses system of varicose disease with high accuracy, in addition, this multi-algorithm technique based on veins as a factor to recognize varicose infection. The obtained results indicate that the design of varicose diagnoses system by applying multi- algorithms (Naïve Bayes and Back-Propagation) produced new
... Show MoreThe diagnoses system of varicose disease has a good level of performance due to the complexity and uniqueness in patterns of vein of the leg. In addition, the patterns of vein are internal of the body, and its features are hard to duplicate, this reason make this method not easy to fake, and thus make it contains of a good features for varicose disease diagnoses. The proposed system used more than one type of algorithms to produce diagnoses system of varicose disease with high accuracy, in addition, this multi-algorithm technique based on veins as a factor to recognize varicose infection. The obtained results indicate that the design of varicose diagnoses system by applying multi- algorithms (Naïve Bayes and Back-Propagation) produced n
... Show MoreTotal of 46 isolates of Klebsiella pneumoniae were collected from patients attending (Al-Yarmook Hospital and Education Labs / medical city), and isolates were re-identified, depending on morphology and biochemical tests . Disk diffusion method was employed to determine antibiotic susceptibility of forty six isolates by using eleven antibiotics .The results revealed the sensitivity of six isolates (9.3%) to Imipenem and Meropenem . On the other hand the isolates were showed 23.9% resistant against Ciprofloxacin, while some isolates shown higher resistant against several antimicrobial agents such as 65.2%, 69.0% for Amikacin and Cefepime consequently , 71.1%, 71.7 % for Amoxicillin -Clauvulanic acid and Gentamicin and 82.6% against Pipera
... Show MoreEmily Bronte is born in Yorkshire on 30 July 1818. Her father, Rev. Patrick Bronte, is a man of intelligence and determination which enables him to gain an admission as a sizar to 81. John's Cambridge in 1802. He has six children where Emily is the fifth. The mother is a young beautiful girl who belong to an important family. Both Emily's parents try to teach
Their children well, support them all the time and elevate them to
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high levels. This causes an eagerness towards reading and writing, but the happiness of the children is affected by the sickness and later on by the death of their mother in 1821. After that things would
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