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.
In this study, a genetic algorithm (GA) is used to detect damage in curved beam model, stiffness as well as mass matrices of the curved beam elements is formulated using Hamilton's principle. Each node of the curved beam element possesses seven degrees of freedom including the warping degree of freedom. The curved beam element had been derived based on the Kang and Yoo’s thin-walled curved beam theory. The identification of damage is formulated as an optimization problem, binary and continuous genetic algorithms
(BGA, CGA) are used to detect and locate the damage using two objective functions (change in natural frequencies, Modal Assurance Criterion MAC). The results show the objective function based on change in natural frequency i
KE Sharquie, AA Noaimi, HG Mahmood, SM Al-Ogaily, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 6
This text and guide discusses the surgical and medical management of congenital heart diseases in both adult and children. It describes the disease, pathology, treatment, complications and follow-up with extensive use of didactic material to educate the reader to the practicalities of the subject. It details the novel research via an extensive literature review, while covering all aspects of the surgical and medical treatment of congenital heart disease. It includes review of the laparoscopic techniques and epidemiology of each disease involved and their prevalence to provide the reader with the full clinical picture. Clinical and Surgical Aspects of Congenital Heart Diseases: Text and Study Guide provides a thorough practical reference fo
... Show MoreBackground: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammator
... Show MoreThis study aimed for isolation and identification of Candida glabrata and identifying some virulence factors. The distribution of patients with candidemia thrush showed that the age group 50-65 years old recorded the highest incidence of candidiasis in female and male with leukemia by 50% and 37.9 % respectively compared to the lowest incidence of candidiasis in the age group under 17 years old in female and male 8.8% and 13.5%, respectively. While the age group between 5-8 years was high, reaching 18 cases of oral candidiasis and 42% of children with leukemia compared with the age group, which was the least, that reached 9 cases, 21%. The highest incidence of C. glabrata was 59 isolates of females and males with leukemia, while C. kefyer w
... Show MoreObjective To investigate the accuracy of gingival crevicular fluid (GCF) E-cadherin and total antioxidant capacity (TAC) to discriminate periodontal health from disease. Subjects and Methods GCF samples were collected from participants with periodontal health (control), gingivitis, and periodontitis (n = 25 each group). The latter group was further subdivided according to stage (S) and grade. Periodontal parameters were recorded then levels of biomarkers were assayed using ELISA and antioxidant status by use of the Total Antioxidant Capacity Assay for E-cadherin and TAC, respectively. Results All periodontal parameters were significantly higher in periodontally diseased groups than controls. The GCF E-cadherin significantly increased
... Show MoreAim of the study is to find any correlation between obesity (insulin resistance) and type I diabetes in children. Obesity and diabetes mellitus are the common health problems, and obesity is common cause of the insulin resistance. The results revealed marked increased in glucose, insulin, HbAlc and insulin resistance in obese diabetic type I patients comparing to control group they were obese and non-obese found to be within normal values for glucose, insulin, FIbAlc , and insulin resistance.
Technological advances have yielded new molecular biology-based methods for the diagnosis of infectious diseases. The newest and most powerful molecular diagnostic tests are available at regional and national reference laboratories, as well as at specialized centers that are certified to conduct metagenomic testing. Metagenomic assays utilize advances in DNA extraction technology, DNA sequence library construction, high throughput DNA sequencing and automated data analysis to identify millions of individual strands of DNA extracted from clinical samples. At present, metagenomic assays are only possible at a small number of special research, academic and commercial laboratories. Continued research in human and path
... Show MoreThe treatment of migraine headache targets the neurovascular mechanism and involves the use of serotonin receptor antagonists. Some of these drugs are used for the treatment of acute attacks; while others are effective as prophylactic measures to decrease the duration and frequency of attacks. Pizotifen, a 5-HTA antagonist, is one of the prophylactic drugs for which the clinical use resulted in low outcomes in reducing migraine symptoms. Melatonin, a serotonin derived neurohormone, was reported to exert many functions like sleep induction, anti-inflammatory, neurovascular regulation, cytoprotection and modulation of neurotransmitter release. In the view of the involvement of serotonin in the pathophysiology of migraine a
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