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: Sickle cell nephropathy, a heterogeneous group of renal abnormalities resulting from complex interactions of sickle cell disease (SCD)-related factors and non-SCD phenotype characteristics, is associated with an increased risk for morbidity and mortality. AIMS: The aims of this study were to determine the frequency of microalbuminuria (MA) among pediatric patients with SCD and to determine risk factors for MA among those patients. SUBJECTS AND METHODS: A case–control study was carried out on 120 patients with SCD, 2–18 years old, registered at Basrah Center for Hereditary Blood Diseases, and 132 age-and sex-matched healthy children were included as a control group. Investigations included complete blood panel, blood urea, se
... Show MoreThe study included 200 samples were collected from children under two years included (50 samples from each of Cerebrospinal fluid, Blood, Stool and Urine) from, (Central Children Hospital and Children's Protections Educational Hospital) The Iraqi Ministry of Health, the Department of Health Baghdad .the period from the first of 2015 September to the first of December 2015, Were obtained isolates bacterial subjected to the cultural, microscopic and biochemical examination and diagnosed to the species by using vitek2 system .The results showed there were contamination in 6.5% of clinical samples. The diagnosed colonies which gave pink color on the MacConkey agar, golden yellow color on the Trypton Soy agar and green color on t
... Show MoreGrowth hormone deficiency is a condition that occurs when a limited volume of growth hormone is released by the pituitary gland since growth hormone deficiency causes growth delays, short stature, and overall physical development delays. symptoms differ based on the age at which they occur .Aim of this study Estimating the level of growth hormone serotonin ,IGF-1 and Chromogranin A before and after with treatment recombinant growth hormone and It is the first study in Iraq that sheds light on the relationship between Chromogranin and other variables ( somatostatin, IGF-1,GH) ,also the prediction of Chromogranin A as a newly biochemical marker in children with growth hormone deficiency. In this study, 30 samples were collected from children
... Show MoreIn the present study rice microsatellite marker (RM 171) was used to evaluate the genetic diversity and determining cultivar identity among ten rice varieties (oryza sativa L.) (Seven local and three commercial varieties). PCR technique was performed using two specific primers. The result showed presence of a band (305bp) DNA sequencing was done to PCR product to detect sequence variation between the ten rice varieties. In order to detect the relationship among all varieties, alignment of RM171 marker sequence was carried out for each variety. Amber and Daawat varieties showed the highest similarity with 98% identity, while the difference (2%) consists of two gaps and two transition mutations (T/C) and (C/T). Furthermore, Amber was align
... Show MoreBackground: Blastocystis spp. distributes world widely and the genus Blastocystis include many subtypes that are isolated from human intestinal tract. It is considered the most common parasite detected in human being.
Objectives: To evaluate the incidence of Blastocystis spp. among leukemic children, to find out its association with the presence of symptoms (diarrhea and abdominal pain), and to assess the efficacy of different staining methods in detection of Blastocystis spp.
Type of the study: cross-sectional study.
Method: 103 children were enrolled in this study, 53 leukemic patients and 50 healthy con
... Show MoreObjective: Rheumatoid arthritis (RA) patients have increased morbidity and mortality from premature cardiovascular (CV) disease (CVD). Framingham risk score (FRS) is a simplified coronary prediction tool developed to enable clinicians to assess the risk of a cardiovascular event and to identify candidate patients for risk factors modifications worldwide. The predictive ability of the FRS varies between populations, ethnic groups, and socio-economic status. The aim of this study is to find if there is any correlation between the Framingham risk score and the inflammatory and biochemical parameters used to measure disease activity and functional ability in Iraqi patients with active RA.
The researcher aims at focusing on the participations of children journalism in supplying the educational values for them. The researcher uses the survey method in addition to the method of content analysis through analyzing the content of two journals (Majalati and The Mezmar). Both of them deal with children issues.
The researcher concludes that the two journals focus on literary arts in a way which surpasses the journalistic arts. Furthermore, the two journals have concerned with showing the positive values as well as insuring the necessity of rectifying the wrong behaviors. Finally, the researcher recommends that it is necessary to improve the employees who work with children j
... Show MoreBackground: Tumor necrosis factor-alpha (TNF-α) and interleukins play important roles in the pathogenesis of rheumatoid arthritis (RA). Genetic research has been employed to find many of the missing connections between genetic risk variations and causal genetic components. Objective: The goal of this study is to look at the genetic variations of TNF-α and interleukins in Iraqi RA patients and see how they relate to disease severity or response to biological therapy. Method: Using specific keywords, the authors conducted a systematic and comprehensive search to identify relevant Iraqi studies examining the genetic variations of TNF-α and interleukins in Iraqi RA patients and how they relate to disease severity or response to biolo
... Show MoreBackground Molluscum contagiosum is skin disease caused by the molluscum contagiosum virus (MCV) usually causing one or more small dome shaped umbilicated papules with symptoms that maybe self-resolve. MCV was once a disease primarily of children, but it has evolved to become a sexually transmitted disease in adults. It is believed to be a member of the pox virus family. In addition to the classic presentation of the disease; it can also come in different clinical forms that simulate large number of dermatolological disease.
Objective: To study different clinical forms of Molluscum contagiosum presentation in different age groups of Iraqi patients.
Method:This clinical descriptive study was performed in the outpatient department of
Background: Behçet’s disease (BD) is a disorder of systemic inflammatory condition. Its important features are represented by recurrent oral, genital ulcerations and eye lesions. Aims. The purpose of the current study was to evaluate and compare cytological changes using morphometric analysis of the exfoliated buccal mucosal cells in Behçet’s disease patients and healthy controls, and to evaluate the clinical characteristics of Behçet’s disease. Methods. Twenty five Behçet’s disease patients have been compared to 25 healthy volunteers as a control group. Papanicolaou stain was used for staining the smears taken from buccal epithelial cells to be analyzed cytomorphometrically. The image analysis sof
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