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.
This study included a survey and review of the scientific names of the marsh insects (aquatic and surrounding it) for the purpose of unifying and updating the database.
The survey reveals 109 species under 77 genera that belong to 32 families and 7 orders as follow: Coleoptera (44 species), Diptera (7 species) Ephemeroptera (2 species), Hemiptera (14 species), Hymenoptera (11 species), Lepidoptera (2 species) and Odonata with 29 species.
Information of specimens' collection for each species, synonyms and geographical distribution were provided.
The measurements and tests of the samples conducted in the laboratories of the College of Agriculture included isolating bio-fertilizers and testing the efficiency of isolates that fix atmospheric nitrogen and solubilize phosphorous compounds. Bacteria were isolated and identified from the rhizosphere soils of different plants collected from various agricultural areas. A total of 74 bacterial isolates were obtained based on the phenotypic characteristics of the developing colonies, as well as biochemical and microscopic traits. The results of isolation and identification showed that among the 74 bacterial isolates, there were 15 isolates of A. chroococcum, 13 of Az. lipoferum, 13 of B. megaterium, 10 of P. putida, 10 of Actinomycetes, and n
... Show MoreAbstractOBJECTIVES: To evaluate the long-term remission efficacy and safety of isotretinoin in the treatment of Behcet's disease (BD). PATIENTS and METHODS: This single-blind, controlled therapeutic study was conducted in the Department of Dermatology and Venereology at Baghdad Teaching Hospital from February 2011 to January 2012. Thirty patients with BD were included in this work. Each patient received isotretinoin 20 mg orally once daily for 3 months. They were assessed at week 2 and then monthly depending on the Clinical Manifestation Index (CMI) and to record any side effects. At week 12, isotretinoin was stopped and patients were given placebo therapy in a form of glucose capsules for another 3 months. RESULTS: Thirty patients were tre
... Show MoreLimitations of the conventional diagnostic techniques urged researchers to seek novel methods to predict, diagnose, and monitor periodontal disease. Use of the biomarkers available in oral fluids could be a revolutionary surrogate for the manual probing/diagnostic radiograph. Several salivary biomarkers have the potential to accurately discriminate periodontal health and disease. This study aimed to determine the diagnostic sensitivity and specificity of salivary interleukin (IL)‐17, receptor activator of nuclear factor‐κB ligand (RANKL), osteoprotegerin (OPG), RANKL/OPG for differentiating (1) periodontal health from disease and (2) stable a
Objectives: This study aims to assess the quality of life of cerebral palsy children less than 12 years old reported by
parents in Erbil city/Iraq.
Methodology: A descriptive study was conducted during 2014, to describe the quality of life of cerebral palsy
children. One hundred mothers have cerebral palsy children were participated in this study. The study took place at
Helena Center for handicapped children in Erbil City. Questionnaire was used to collect data, which consists of two
main parts. The first part is divided into two sections; section one was described the mothers’ demographic
characteristics, while the second section was for identifying the demographical characteristics of cerebral palsy
children. Th
Background: Immediate implant placement in the maxillary anterior region was challenging, especially with the jumping gap and limited primary implant stability. Objective: To assess the autogenous dentin graft biomaterial's ability to improve the esthetic outcomes of an immediately inserted implant. Methods: Twenty patients with non-restorable retained roots in the maxillary non-molar region surrounded by natural sound teeth were included in this study after a complete clinical and radiological examination, including patient health and clinical fitness for the immediate dental implant procedure. A single dental implant was inserted for each patient, and the resulting jump distance was filled with the mineralized dentin graft and co
... Show MoreBackground/Objectives: This study evaluates the diagnostic and referral skills of final-year dental students at Al-Iraqia University using a questionnaire based on malocclusion cases ranging from mild to severe. Methods: The questionnaire, featuring photos and radiographs of five selected treated cases from two textbooks, was answered by 165 students who were asked to assess each case and determine whether orthodontic or surgical treatment was necessary, as well as to identify factors contributing to an unesthetic profile, such as irregular teeth. Frequency distribution and the Chi-square test were used for statistical analysis. Results: The results indicated good overall clinical competence. The unesthetic profile and irregular tee
... Show MoreAim: The reduction in the amount of marginal bone is the most important demand for the long term success of dental implants. This prospective clinical study was aimed to investigate the marginal bone loss of early loaded SLActive implants with different dimensions and surgical approaches. Materials and methods Fifteen patients aged from 18 to 60 years were divided into 2 groups (flapped and flapless approach) that underwent delayed implant placement protocol with SLActive implants. The marginal bone level was estimated by cone-beam computed tomography during three different periods: preoperatively, 8 weeks after surgery and 24 weeks after loading of the prosthesis. Results: The mean value of marginal bone level was not significantly chan
... Show MoreObjectives: The study aims to evaluate effectiveness of health education program on health care providers’ knowledge toward immunization of children at primary health care centers in Kirkuk city.
Methodology: A quasi –experimental study design two- group (pre-test, post-test 1 and post-test 2) conducted at primary health care centers in Kirkuk city during the period from 28 October 2019 to 10 August 2020. By collecting (50) samples divided into two groups, each one (25) participant as control & study group. The study group exposed to the education program only.
Results: Results showed a clear positive
... Show More