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.
Introduction: Cerebral hydatid disease (CHD) is rare and the multiple-cystic variety is even rarer. In this paper, we report a case of multiple CHD and explore a possible link with a preceding spontaneous intracerebral haemorrhage (ICH). Case presentation: A 27-year old gentleman with a history of surgically-evacuated, spontaneous ICH presented with severe headache, left-sided weakness - Medical Research Council (MRC) grade II - and recurrent tonic-clonic seizures, while on a full dose of anti-epileptic medication. Brain magnetic resonance imaging (MRI) scans showed multiple intra-axial cystic lesions in the right hemisphere. The cysts were removed intact using Dowling’s technique through a large temporoparietal crani
... Show MoreHeart disease is a significant and impactful health condition that ranks as the leading cause of death in many countries. In order to aid physicians in diagnosing cardiovascular diseases, clinical datasets are available for reference. However, with the rise of big data and medical datasets, it has become increasingly challenging for medical practitioners to accurately predict heart disease due to the abundance of unrelated and redundant features that hinder computational complexity and accuracy. As such, this study aims to identify the most discriminative features within high-dimensional datasets while minimizing complexity and improving accuracy through an Extra Tree feature selection based technique. The work study assesses the efficac
... Show MoreThis study was conducted to determine the fungal cause and bio control of damping off and root rot of wheat plants by using pseudomonas fluorescens under greenhouse and field conditions. Results showed isolation of eight species from the soil and roots to deferent region of Baghdad government. Rhizoctonia solani (Rs) and Fusarium solani (Fs) were the predominant damping off fungus with frequency 60 and 52% respectively. Led the using of bacteria formulations such as crud suspension , pure bacteria filtration and pure living cells in culture medium inhibit all type fungi with rates ranging from 84-96% , 80- 93% and 75-88% respectively. Rs and Fs were more pathogenesis under greenhouse conditions, with incidence of 80 and 68% and disease s
... Show MoreBackground: Pleomorphic adenoma of the minor salivary gland is a rare benign tumor. It commonly occurs in the hard and soft palates. Treatment by surgical excision achieved success in improving the patient’s health. Objective: To evaluate the recurrence rate after surgical treatment of pleomorphic adenoma in minor salivary glands. Methods: This retrospective study included patients who attended the Maxillofacial Surgery Unit in Ghazi Al-Hariri Hospital, Baghdad, from 2019 to 2021, complaining of soft tissue lumps involving the soft and hard palate, buccal mucosa, and upper lip. After the provisional diagnosis of these lesions, a total surgical excision of the tumor with a safe margin of 1 mm was performed, and the biopsy was sent for hist
... Show MoreEfficacy of Oregano Essential Oil Mouthwash in Reducing Oral Halitosis: A Randomized, Double-Blind Clinical Trial, Mohamed Saeed M Ali, Ayser Najah Mohammed*
Objective: To identify the role and importance of the clinical pharmacist in the Emergency Department on prevent
or reduced the medication error.
Methodology: We collected the medical file of 3400 patients, 1400 patient's file in (A) hospital, and 1000 patient's
file in each of (B and C) hospital, who admitted to the ED, at primary weekdays between 8 am to 2 pm, and
recorded all the intervention made by clinical pharmacist through an active search in clinical charts, with analysis
of the daily medical prescription. The potential severity of harm of the medication error judged by two reviewers,
a permanent emergency physician, and clinical pharmacist based on the National Coordinating Council (NCC) of
Medication Error
Background: Since the periodontal disease Index of Ramfjord (Ramfjord index) can potentially shorten the examination time by almost half, many studies evaluated Ramfjord teeth in predicting full-mouth periodontal status of an adult population. The aim of this study was to evaluate the benefit of Ramfjord teeth in predicting the full-mouth clinical attachment level of an adult population in patients attending the college of dentistry- Baghdad University. Materials and methods: The study participants were 100 patients with age range from 30-60 years old which represent group zero. The patients were divided into three main groups according to the age of the patients. Group I and group II each of them composed of 30 patients while group III co
... Show MoreBackground: Pleomorphic adenoma of the minor salivary gland is a rare benign tumor. It commonly occurs in the hard and soft palates. Treatment by surgical excision achieved success in improving the patient’s health. Objective: To evaluate the recurrence rate after surgical treatment of pleomorphic adenoma in minor salivary glands. Methods: This retrospective study included patients who attended the Maxillofacial Surgery Unit in Ghazi Al-Hariri Hospital, Baghdad, from 2019 to 2021, complaining of soft tissue lumps involving the soft and hard palate, buccal mucosa, and upper lip. After the provisional diagnosis of these lesions, a total surgical excision of the tumor with a safe margin of 1 mm was performed, and the biopsy was sent
... Show MoreOsteoarthritis is the most prevalent arthritic disease and a leading cause of disability. The pathogenesis of osteoarthritis involves multiple etiologies, including variable degree of synovial inflammation. Metformin and pioglitazone could potentially reduce the levels and activity of inflammatory mediators. This may consider as a new therapeutic approach added to the current used drugs in an attempt to decrease the pain, inflammation, and improve daily activity and quality of life in patients with knee osteoarthritis.
This study designed to evaluate the clinical utility of using metformin or pioglitazone as anti-inflammatory agents in combination with non-steroidal anti-inflammatory drugs (NSAID) of selective type of cyclooxygen
... Show More