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.
Marriage is a characteristic of the human race, as it is one of the oldest organization, asoldas human beign marrige is a legitimale relationsbip between male and female in the name of Allah "o mankind !Be dutiful to your lord, Who created you from a single person (Adam), and from him (Adam) He created his Wife (Eve), and from them both He created mang men and women
Marriage is a requirement of human life to ensure tle continuity and survival of the human species and established it in a legal, social and legitimate frame,according to certain criteria and conditions so that the individual earns psychological and social comfort in the name of Allah and Allah has made for you Azwaj ( mates or wives), sons and grand sons, and has bestowed
The present study aimed to demonstrate the extent to which the activity of a number of enzymes and genetic variation of β-globin genes were affected in the blood of 65 children with β - thalassemia major of both sexes. The patients, with an age range of 2 – 15 years, were registered in the Thalassemia Center at Ibn Al-Atheer Teaching Hospital for Children in the city of Mosul / Iraq. They were under continuous treatment after being diagnosed by specialist doctors. The study also involved 30 healthy children of both sexes with the same age range who were considered as a control group.
The results showed significant increases (p≤0.05) in the activities of alanine transaminase (ALT), aspart
... Show MoreObjectives: To study the prevalence of rs1799964 (-1031 T/C) and rs361525 (- 238 G/A) SNPs and their effect on the disease activity, severity, and cytokines production in newly diagnosed Iraqi rheumatoid arthritis patients. Patients and Methods: sixty-three patients were diagnosed by a specialist physician while attending the rheumatology unit and twenty control participated. The inflammatory markers were measured and PCR amplification and sequencing were performed to demonstrate TNF-α SNPs. Results: Regarding (-1031 C/T) SNP, the TT genotype and allele C were significantly present in the controls, and the CT genotype was distributed significantly in the patients. The TT genotype was mostly distributed in the mild-moder
... Show MoreBackground: Cerebral palsy is non-progressive disorder of posture or movement due to a lesion of the developing brain. It is the commonest physical disability in childhood. Objective: To study the clinical, neurological abnormalities, prevalence of convulsion (epilepsy) & to asses the value of CT scans of brain in patients with cerebral palsy.
Autoimmune thyroid disease mainly includes Graves’ disease (GD) and autoimmune hypothyroidism (AIH), which is caused by individual genetics, autoimmune dysfunction, and a variety of external environmental factors. Interleukin IL-38 and IL- 40 are involved in a wide range of autoimmune diseases, but little is known about IL-38 and IL-40 expression in autoimmune thyroid disease. This research included 82 female patients with Graves' disease (GD), 78 females with autoimmune hypothyroidism (AIH), and 85 female healthy controls (HC). An enzyme linked immunosorbent assay and sequencing of IL-38 and IL-40 were used to evaluate serum levels and gene polymorphism, respectively. Results showed
... Show MoreBackground: 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 software has been used to
... Show MoreSignificant risks to human health are posed by the 2019 coronavirus illness (COVID-19). SARS coronavirus type 2 receptor, also known as the major enzyme in the renin-angiotensin system (RAS), angiotensin-converting enzyme 2 (ACE-2), connects COVID-19 and RAS. This study was conducted with the intention of determining whether or not RAS gene polymorphisms and ACE-2 (G8790A) play a part in the process of predicting susceptibility to infection with COVID-19. In this study 127 participants, 67 of whom were deemed by a physician to be in a severe state of illness, and 60 of whom were categorized as "healthy controls" .The genetic study included an extraction of genomic DNA from blood samples of each covid 19 patients and healthy control
... Show MoreThe performance of the Indian wheat varieties (PBW34, PBW343 and WH542) was compared with the local varieties (Tamose – 2 and Abu Ghareeb). The experiment was conducted during two seasons first 2000-2001 and second 2001-2002 at AL- Twaitha experimental station , middle of Iraq. The results showed that (Tamose – 2) exceeded the other varieties in plant height and heading date in the two seasons, while WH542 gave the lowest plant height. PBW34 variety showed a significant increase in 1000 grain weight followed by PBW343 in the second season. Moreover, PBW34 and PBW343 gave the highest average of 50 spike weight in the second season. 
... Show MoreBackground: Guillain Barré syndrome is an acute inflammatory demyelinating disease of the peripheral nerves. Its synonyms are: acute inflammatory demyelinating polyradiculoneuropathy, idiopathic polyneuritis, acute infective polyneuropathy and post infections polyneuritis. Objectives: We attempt to study the clinical presentations and complications in patients with GBS who were admitted to children welfare Teaching Hospital and to compare the results with the other studies.Type of the study: A retrospective study.Methods: A study done on seventy patients with GBS who were admitted to children Welfare Teaching Hospital in Medical City-Baghdad from different parts of Iraq between January 2002-December 2006.Results: Forty (57.14%) of them
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