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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>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.</p>
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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Screening Program for Idiopathic Scoliosis by Adam's Bending Forward Test of Prepubertal Children at Primary Schools in Baghdad City
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Objective: The study aimed to screen the prepubertal children for idiopathic scoliosis at earlier stages, and find
out the relationship between idiopathic scoliosis and demographic data such as age, sex, body mass index,
heavy backpacks, and heart & lung diseases.
Methodology: A descriptive study was conducted on screening program for prepubertal children in primary
schools at Baghdad city, starting from 24th of February to the end of October 2010. Non- probability
(purposive) sample of 510 prepubertal children were chosen from primary schools of both sides of Al-Karkh
and Al-Russafa sectors. Data was collected through a specially constructed questionnaire format include (24)
items multiple choice questions, and

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Impact of Education Program upon Nurses' Knowledge towards Children under Mechanical Ventilation at Pediatric Teaching Hospitals in Baghdad City
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Objective: impact of the education program for nurses' knowledge toward children under mechanical
ventilation, and to find out the relationships between nurses' knowledge and their general information.
Methodology: Quasi experimental study was carried out at the respiratory care units of Baghdad
Pediatric Teaching Hospitals started from February15th, until September 26th, 2011, A purposive (nonprobability)
sample of (23) nurses working in the respiratory care units, were selected from Children
Welfare and Pediatric Central Teaching Hospitals. The data were gathered through using of the
constructed multiple choice questionnaire using to evaluate the nurses knowledge using checklist, The
questionnaire consists of two p

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Publication Date
Tue Aug 23 2022
Journal Name
International Journal Of Health Sciences
Association between periostin and bone minerals in osteoporosis and osteopenia Iraqi patients
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Background: osteoporosis is characterized by a reduction in bone mineral density, skeletal microstructure breakdown, increased bone fragility, and fracture susceptibility. Osteopenia is the preceding step to osteoporosis because it causes a decrease in bone mass, osteoporosis reduces a person's quality of life. Periostin (encoded by Postn), its name is derived from the fact that it was first detected in periosteal osteocytes and osteoblasts. Periostin deficiency has been linked to osteoporosis and weak bones. Study objectives: The purpose of this study was to determine periostin levels in serum of Iraqi patients with osteoporosis and osteopenia, and it is also possible to consider periostin as a diagnostic factor to follow the progression o

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Publication Date
Wed Mar 04 2026
Journal Name
Future Virology
Photodynamic therapy at low power laser enhances the oncolytic Newcastle disease virus in killing breast cancer cells
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Publication Date
Sat Oct 10 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Radiographic follow up for clinical cases of mandibular implant retained overdenture MIR-OD
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Background: The use of osseointegrated fixtures in dentistry has been demonstrated both histologically and clinically to be beneficial in providing long term oral rehabilitation in completely edentulous individual. Most patients suffer from denture instability; particularly with mandibular prosthesis, the use of dental implant will be benefit significantly from even a slight increase in retention. The concept of implanting two to four fixtures in a bony ridge to retain a complete denture prosthesis appealing therefore, as retention, stability and acceptable economic compromise to the expanse incurred with the multiple fixture supported fixed prosthesis. Materials and methods in this study the sample were eight patients selected from a hosp

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Publication Date
Fri Jun 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
Periodontal health status of patients with Maxillary Chronic Rhinosinusitis (Part 1: Clinical study)
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Background: Periodontal diseases (PD) are inflammatory conditions of the tissues supporting the teeth, most often gingivitis and periodontitis. Maxillary chronic rhinosinusitis (MCRS) is the inflammation of the maxillary sinuses which is last for at least 12 consecutive weeks duration. Aims of study: Distribution of periodontal diseases among patients with Maxillary chronic rhinosinusitis according to gender and age. Materials and methods: Males and females subjects (25-45 years), divided into two groups; 150 patients suffer from MCRS and 130 subjects without MCRS. Clinical periodontal parameters; Plaque Index (PL.I), Gingival Index (G.I), Probing Pocket Depth (PPD), Clinical Attachment Level (CAL) and Bleeding On Probing (BOP) recorded f

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Publication Date
Fri Nov 01 2019
Journal Name
Indian Journal Of Public Health Research & Development
Prevalence of β-lactam Resistant Klebsiella Pneumoniae Isolates among Clinical Specimensin Baghdad Hospitals
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One hundred forty three of Klebsiellapneumoniae isolates had been collected from some hospitals in Baghdad city. The isolates were taken from different clinical specimens.Antimicrobial susceptibility test was carried out towards fifteen antimicrobial agents by using Vitek2 system with Antimicrobial susceptibility test cards. The results of antibiogram showed that the local isolates were possess highly resistance towards most antimicrobial agents under study. The high resistance wastoAmpicillin while the low resistance was to Imipenem.Two methods were used for detection of Extended Spectrum Beta Lactamases (ESBLs) production; first methods by using of Vitek2 system,thesecondmethods by using of polymerase chain reaction (PCR) technique to dis

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Publication Date
Sat Oct 10 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Periodontitis among a Group of Type TwoDiabetic Patientsin Relation to Risk of Vascular Disease
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Background: Type two diabetic patients have higher risk of cardiovascular and periodontal disease. Furthermore, patients with more severe periodontal disease have higher incidence of cardiovascular disease. This study aimed to assess the association between periodontal health status and the risk of vascular disease in type 2 diabetic patients. Materials and Methods: One hundred type 2 diabetes mellitus patients and fifty apparently healthy males were enrolled in this study. Oral examinations conducted were; plaque Index, calculus index, gingival index, probing pocket depth, and clinical attachment level. For the assessment of vascular risk, arterial stiffness index was used. Results: According to arterial stiffness index, type 2 diabetic p

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Publication Date
Tue Apr 21 2026
Journal Name
International Journal Of Nutrology
The role of some antioxidants in reducing oxidative stress in female hypothyroidism patients with type II diabetes: a randomized controlled clinical trial
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Background: Hypothyroidism and type 2 diabetes are common conditions worldwide, with hypothyroidism affecting 4–10% of the population and type 2 diabetes affecting approximately 10% of adults globally. The increasing co-occurrence of these two conditions may contribute to increased oxidative stress and associated complications. Low levels of antioxidants are linked to hypothyroidism with type II diabetes because of the growth and production of free radicals, which makes patients more susceptible to oxidative stress. Objective: It was to assess how low antioxidants may exacerbate the pathogenic state of type 2 diabetic hypothyroid patients. Methods: 140 hypothyroid individuals with type 2 diabetes, ages 25 to 60, were assigned to t

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Publication Date
Sat Oct 10 2026
Journal Name
Mustansiriya Medical Journal
Dermatological Diseases among children Attending Al-Yarmouk Teaching Hospital-Outpatient Department of Dermatology
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