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.
Correlation and path coefficient analysis were worked out for ten morphological traits in 30 three-way crosses of maize. Phenotypic and genotypic correlation analysis indicated that ear length; row numbers per ear, grain numbers per row, leaf area and leaves numbers had a positive significant correlation with grain yield per plant. Further partitioning of correlation coefficients into direct and indirect effects showed that traits days to silking, row numbers per row and leaves numbers had a positive direct effect on grain yield per plant. The traits ear length, grain numbers per row and leaf area had a maximum total effect on grain yield. Furthermore, PCA analysis has gave interested
Background: Insulin resistance (IR) is the primary metabolic disorder associated with obesity. Obesity is a growing worldwide health problem affecting both adults and children. Objectives: To determine the association between leptin and IR, and to identify the ratio of fasting glucose/leptin (G/L) and insulin/leptin (I/L) as a new simple method for the detection of IR in obese children.Methods: This study was done in the National DiabeticCenter/ AL-Mustansiriya University during the period fromMay 2013 until the end of October 2013. Fasting bloodglucose (FBG), serum insulin, leptin, and lipid profile weremeasured in 52 obese children (24 children with IR and 28without IR); their age range was (5-15) years, they werecompared with 38 healt
... Show MoreA field experiment was carried out during winter season of 2019-2020 at Al-Mhanawyah Research Station - Agriculture Research Directorate - Babylon Governorate / Iraqi, to study the gene expression of Sgr gene responsible for controlling the duration of staying green in varieties of wheat under effect of plant growth regulator during the two growth stages (vegetative and reproductive) by using quantitative reverse transcription-PCR (RT-qPCR) technique and achieving the highest grain yield for a number of wheat varieties. Randomized complete block design (RCBD) arranged according to split plots used with three replicates. The experiment included twelve wheat varieties (Saberbic, Al-Rasheed, Iraq, Tamoz-3, Al-Adnaniya, Babel, IPA-99, Al-Latife
... Show MoreBackground: The iron deficiency anemia along with hyperphosphatemia are the main complications of dialysis patients. Traditional iron supplement has been failed to correct iron deficiency anemia, therefore, the current study aimed to investigate the efficacy and tolerability of new phosphate binder, ferric citrate, in a sample of Iraqi patients with end stage renal disease on maintenance hemodialysis. Method: Prospective, randomized, open label, active controlled trial was conducted in one center for dialysis in Babylon governance. Patients were randomized to receive ferric citrate with dose of 6 g/d and calcium carbonate with dose of 3 g/d for eight weeks. Hemoglobin concentration, mean corpuscular hemoglobin concentration and count o
... Show MoreBackground: five clinical phases were described in patients with chronic (HBV) infection: HBeAg- positive HBV infection, HBeAg- positive chronic HB, HBeAg negative HBV infection, HBeAg-negative CHB and occult HBV infection. Aim: This study aimed to determine the incidence of the unclassified phase (gray zone) in chronic hepatitis B patients and its significant in the clinical practice. Patients and methods: The study was conducted retrospectively on 109 patients' who have HBsAg positive for more than 6 months. The data recorded include; HbeAg and anti-HBe Ab, ultrasound of the abdomen, HBV DNA load and alanine aminotransferase (ALT), accordingly; we classify the patients to known clinical phases. Patients who were unfit one of these phases
... Show MoreObjective: This study aims to assess the awareness of patients suffering from cardiovascular
diseases.
Methodology: A descriptive design was applied in this study. A purposive sample consisted of
(100) patients with cardiovascular disease in the Mosul's hospitals were interviewed to achieve study
objectives. A questionnaire was used for data collection after tested for validity and reliability by pilot
study.
Results: The study results showed the mean of patients awareness are (1.78) cut point of (3) and
the majority of patients84% were aged more than 50 years or above. Slightly increase proportion of
male more than females. Most of them are married81%, retired, smokers, and a period of developing
the disease a
Heart failure (HF) is characterized by family history and clinical examination combined with diagnostic tools such as electrocardiogram, chest x-ray and an assessment of left ventricular function by echocardiography. An early diagnosis of heart failure is still based on symptoms of dyspnea, fatigue and signs of fluid overload. Serum N-terminal pro-B-type natriuretic peptide (NT-pro BNP) is cardiac biomarker has emerged as potential predictor of heart failure. It is used as a sensitive biomarker in diagnosis and assessment severity of heart failure. This study assed the diagnostic value of (NT-pro BNP), in Iraqi children patients with heart failure and its correlation with LVEF% especially in emergency rooms of hospitals.Ninety (90) consecut
... Show MoreObjective: The present study aims to investigate molecular confirmation for <i>Cryptosporidium</i> species in fish handlers in Baghdad City, central Iraq. Materials and Methods: Sixty stool samples were collected between early November 2023 and late April 2024. All samples were examined phenotypically using a modified Ziehl-Neelsen stain and genotypically (nested polymerase chain reaction technique) based on a partial sequence of 18S rRNA genes with sequencing and phylogenetic tree analysis. Results: The total molecular results identified <i>Cryptosporidium parvum</i> with an infection rate of 45% (27/60). A higher infection rate of 51.9% (14/27) was found in the age group between 15 and 35 years, and male
... Show MoreTwelve species from Brassicaceae family were studied using two different molecular techniques: RAPD and ISSR; both of these techniques were used to detect some molecular markers associated with the genotype identification. RAPD results, from using five random primers, revealed 241 amplified fragments, 62 of them were polymorphic (26%).
ISSR results showed that out of seven primers, three (ISSR3, UBC807, UBC811) could not amplify the genomic DNA; other primers revealed 183 amplified fragments, 36 of them were polymorphic (20%). The similarity evidence and dendrogram for the genetic distances of the incorporation between the two techniques showed that the highest similarity was 0.897 between the va
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