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.
Bigheaded carps (bighead carp, Hypophthalmichthys molitrix, and silver carp, Hypophthalmichthys nobilis) and their hybrids play an important ecological and economic role in their original habitat, while their introduced stocks may pose serious ecological risks. To address questions about the persistence and invasiveness of these fish, we need to better understand their population structures. The genetic structures of bigheaded carp populations inhabiting Lake Balaton and the Tisza River were examined with ten microsatellite markers and a mitochondrial DNA marker (COI). The Lake Balaton stock showed higher genetic diversity compared with the Tisza River stock. Based on hierarchical clustering, the Tisza population was characterized o
... Show MoreKE Sharquie, MM Al-Waiz, AA Al-Nuaimy, Saudi medical journal, 2005 - Cited by 8
Background: asthma has an influence on craniofacial development. Recently evidences show that there is an association between oral health problems and chronic lung disease. The present study was designed to estimate the changes in arch dimension measurements among asthmatic children aged 12 years old who were collected from AL- Zahra Center Advisory for Allergy and Asthma and compare them with the non-asthmatic children of the same age and gender. Material and Methods: Fifty children (25 asthmatic and 25 non- asthmatic children) were included for the odontometric measurement. For both upper and lower study models, photographs were taken using special photographic apparatus for each child, and the statistical analysis were done by using SPSS
... Show MoreThe research problem boils question is there in Riyadh organizational climate that enables them to do their work properly and whether there are differences between the government and private Riyadh depending on the organizational climate has sought Find measure: 1 regulatory climate for kindergarten 2. The difference between government and private Riyadh depending on the organizational climate. Limited research on the (200) parameter of the Riyadh government and private parameters for the year (20,142,015) In order to achieve the research objectives the researchers built a regulatory climate in accordance with the scientific steps to build a psychological scales measure After the formulation of climate regulation paragraphs of the (30) p
... Show MoreBackground: There is plenty of evidence
suggesting that involvement of several groups of
viruses in the development and / or acceleration of
Type 1 Diabetes Mellitus (T1DM).
Objective: To analyze the T- cell proliferation in
the presence of Coxsackie virus B5 (CVB5), Polio
and Adenovirus antigens in addition to assessment
of Interferon- gamma (IFN-γ), Interleukins (IL-10
and IL-6).
Methods: In 60 Iraqi T1DM children with recent
onset of T1DM, Lymphocyte proliferation was
analyzed using Methylthiazol tetrazolium (MTT)
assay by culturing Peripheral Blood Lymphocytes
(PBLs) with Coxsackie Virus B5 (CVB5),
Adenovirus, and Polio vaccine. Serum Interferon-γ,
IL-10 and IL-6 were quantified by sandw
The estimation of the parameters of linear regression is based on the usual Least Square method, as this method is based on the estimation of several basic assumptions. Therefore, the accuracy of estimating the parameters of the model depends on the validity of these hypotheses. The most successful technique was the robust estimation method which is minimizing maximum likelihood estimator (MM-estimator) that proved its efficiency in this purpose. However, the use of the model becomes unrealistic and one of these assumptions is the uniformity of the variance and the normal distribution of the error. These assumptions are not achievable in the case of studying a specific problem that may include complex data of more than one model. To
... Show MoreChronic kidney disease (CKD) is described as an abnormalities of renal function, existing for a long period of time. By reason of the early grades of Chronic kidney disease can be experiences no symptoms, its premature identification is strenuous. initial stage CRD can cause various complications, such as anemia, matabolyic disorders of bone mineral. The study was done to assess the effect the chronic renal disease stage on the Osteoprotegerin, 1,25 dihydroxyvitamin D, Obestatin levels and some biochemical parameters in patients not undertaken dialysis therapy. In this case-control study fifty-five patients with Kidney failure and fourty healthy people were examined. Circulating concentrations of Osteoprotegerin, 1,25 dihydroxyvitamin D
... Show MoreCarpal tunnel syndrome is a neurological disease that presented with paresthesias, pain, and numbness in the hand's median nerve compression. Vitamin D was assumed to affect both electrophysiological &clinical gradings, the study aims to assess the correlation between the deficiency of vitamin D and both electrophysiological and clinical gradings. This study was conducted in Ghazi Alhariri Hospital during the period from the first of November/2020 to the twenty-eighth of February/2021, fifty five individuals were referred to as Carpal tunnel syndrome patients, and compared to (55) control individuals, blood samples were withdrawn from the patients (3ml), centrifuged and kept in the freezer (-20°C) until the time of analysis of
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