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: Osteogenesis imperfecta (OI) is a rare congenital condition that results in bone fragility, recurrent fractures, and various extra-skeletal manifestations. Currently, intravenous bisphosphonate is the mainstay of medical treatment in OI. Objective: To identify the effect of current management strategies on Iraqi children diagnosed with OI. Methods: A retrospective study enrolled OI patients who were registered in Central Child Teaching Hospital, Baghdad, Iraq, from January 2015 to December 2022. We enrolled confirmed OI cases (either clinically and/or radiologically) who received cyclic pamidronate therapy for at least 3 cycles. They neither received other types of bisphosphonates nor underwent surgical intervention. Res
... Show MoreThe novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused a pandemic of coronavirus disease 2019 (COVID-19) which represents a global public health crisis. Based on recent published studies, this review discusses current evidence related to the transmission, clinical characteristics, diagnosis, management and prevention of COVID-19. It is hoped that this review article will provide a benefit for the public to well understand and deal with this new virus, and give a reference for future researches.
Celiac disease (CD) is an autoimmune disorder characterized by chronic inflammation that essentially affects the small intestine and is caused by eating gluten-containing foods. This study sought to determine gene expression of NLRP3 Inflammasome in peripheral blood of Iraqi CD children using quantitative real-time PCR (qRT-PCR) assay. Thirty children with CD (12 males and 18 females) were enrolled in the study and their age range was 3-15 years. The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy. A control sample of 20 age-matched healthy children was also included. The children were stratified for age, gender, body max index (BMI), histological findings, and marsh classification. Furthe
... Show MoreNonalcoholic fatty liver disease in a group of Iraqi obese children attending children welfare teaching hospital
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
Objectives: 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
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