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.
Abstract
This research aims to identify the challenges faced by families of children with intellectual disabilities and to identify the impact of the challenges facing them on the mental health of their children with intellectual disabilities. Based on the following questions: What is the nature of the challenges faced by families of children with disabilities and how do these challenges affect the mental health of their children with intellectual disabilities? The study was conducted on a sample of four families of six children with intellectual disabilities, depending on the degree and type of disability. To achieve the study's objectives, the qualitative approach was used, Because of the importance of accessin
... Show MoreIn this study Isolated Pathogenic bacteria which causes Conjunctivitis in Children with ages between less than 3 year to17 years, admitted to Ibn Al-Haitham Eye Specialist Hospital. 102 cases were collected which include 69 Male Formed (68%) and 33 Female Formed (32%). The result of the recent study shows that the highest percentage of Male was 21% for 1113year ages and the lowest percentage was 3% for less than 3 year to 5 year ages. In Female the highest percentage was 15% for 9-11year ages and the lowest percentage was 1% for 1517year ages. In this study fifty tow isolates were identified, Gram Positive Bacteria were Predominant compared with Gram Negative Bacteria. With 32 isolates which formed (62%) whereas the number o
... Show MoreBackground:Nocturnal Enuresis is a common problem affecting 20% of five years old children and up to 2% of adolescent and young adult. Although it is a self limiting benign condition, it has social and psychological impact on the child and his family. Many pathophysiological theories had been suggested, but none is confirmed. Hypercalciuria has been suggested to be associated with higher incidence of nocturnal enuresis. Objectives:The aim of our study to test the value of Ca/Cr ratio, on random urine sample, in diagnosing hypercalciuria in enuretic children. Type of study: Cross sectional study.Methods:Forty four enuretic children were enrolled in this study and forty five children without nocturnal enuresis were taken as control group.
... Show MoreBackground: Neonatal hyperbilirubinemia is a common disease in neonates especially in early days of birth that requires a good and successful treatment for reducing the severity and its complications that can produce important and irreversible effects.
Objectives: To evaluate the effectiveness of conventional phototherapy, intensive phototherapy and exchange transfusion on outcomes of neonatal jaundice at Fatima Al-Zahra Hospital for maternity and child care in Baghdad.
Patients & Methods: A retrospective study was carried out using medical records of neonates with diagnosis of unconjugated jaundice, admitted in the septic neonatal care unit of Fatima Al-Zahra hospital over 6 months period b
... Show MoreIntroduction and Aim: Pseudomonas aeruginosa is a nosocomial infection with an ability to develop high levels of antibiotic resistance. The efflux pump system is one of the mechanisms that is linked to multidrug resistance in P. aeruginosa. In this study, we employed siRNA loaded on gold nanoparticles against the MexA efflux pump gene to decrease the MexA gene expression in P. aeruginosa and estimated antibiotic resistance after gene silencing. Materials and Methods: This study examined four strains of P. aeruginosa isolated from patients in various hospitals in Baghdad. Bacteria isolated were identified by biochemical tests and Vitek compact 2 system. Single-stranded siRNA (33bp) designed in this study was loaded onto gold
... Show MoreBackground: Cardiovascular disease (CVD) is an important complication of type 2 diabetes mellitus (T2DM). Oxidative stress plays a major role in the development of CVD. Saliva has a diagnostic properties aiding in the detection of systemic diseases. This study aimed to assess the association between salivary oxidative stress markers and the risk of vascular disease (VD) in T2DM patients. Materials and Methods: One hundred T2DM patients and fifty apparently healthy males were enrolled in this study. Saliva sample was collected for assessment of oxidative stress markers including: lipid peroxidation plasma thiobarbituric acid-reactive substances (TBARS), uric acid (UA) and total antioxidant capacity (TAC) levels. Arterial stiffness index (ASI
... Show MoreA mathematical eco-epidemiological model consisting of harvested prey–predator system involving fear and disease in the prey population is formulated and studied. The prey population is supposed to be separated into two groups: susceptible and infected. The susceptible prey grows logistically, whereas the infected prey cannot reproduce and instead competes for the environment’s carrying capacity. Furthermore, the disease is transferred through contact from infected to susceptible individuals, and there is no inherited transmission. The existence, positivity, and boundedness of the model’s solution are discussed. The local stability analysis is carried out. The persistence requirements are established. The global behavior of th
... Show MoreBackground: Gastroesophageal reflux disease, is a quite prevalent gastrointestinal disease, among which gastric content (excluding the air) returns into the oral cavity. Many 0ral manifestations related t0 this disease include tooth wear, dental caries also changes in salivary flow rate and pH. This study was conducted among gastroesophageal reflux disease patients in order to assess tooth wear in relation to salivary flow rate and pH among these patients and the effect of gastroesophageal reflux disease duration on this relation. Materials and methods: One hundred patients participate in this cross-sectional study for both genders and having an age range of 20-40 years old, patients had been endoscopically identified as having gastroeso
... Show MoreRheumatoid arthritis is a chronic systemic inflammatory disease. Inflammation leads to joint damage and increases the risk of cardiovascular diseases. Neutrophil lymphocyte ratio (NLR) is a measure of inflammation in many diseases. Therefore, we aimed to evaluate the usefulness of NLR to detect inflammation in RA, and its correlation to RA disease activity indices and some hematological parameters. A cross-sectional study involving 24 patients with active rheumatoid arthritis (RA) who are using MTX participated in this study. All patients were clinically evaluated using disease activity score of 28 joints (DAS28) and simplified disease activity index (SDAI), whereas functional disability was assessed by health assessment questionnaire di
... Show More