Preferred Language
Articles
/
GRhJEJUBVTCNdQwCKCV0
Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
...Show More Authors
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>
Scopus Clarivate Crossref
View Publication
Publication Date
Fri Jun 16 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Clinical significance of Osteoprotegerin, Vitamin D, Obestatin and some biochemical variables in Kidney failure Patients
...Show More Authors

Chronic kidney disease (CKD) is described as an abnormalities of renal function, existing for a long period of time. By reason of the early grades of Chronic kidney disease can be experiences no symptoms, its premature identification is strenuous. initial stage CRD can cause various complications, such as anemia, matabolyic disorders of bone mineral. The study was done to assess the effect the chronic renal disease stage on the Osteoprotegerin, 1,25 dihydroxyvitamin D, Obestatin levels and some biochemical parameters in patients not undertaken dialysis therapy. In this case-control study fifty-five patients with Kidney failure and fourty healthy people were examined. Circulating concentrations of Osteoprotegerin, 1,25 dihydroxyvitamin D

... Show More
View Publication Preview PDF
Scopus (1)
Scopus Crossref
Publication Date
Wed Aug 11 2021
Journal Name
Neuroquantology
Correlation of Vitamin D Level with Electrophysiological Findings and Clinical Grading in Carpal Tunnel Syndrome
...Show More Authors

Carpal tunnel syndrome is a neurological disease that presented with paresthesias, pain, and numbness in the hand's median nerve compression. Vitamin D was assumed to affect both electrophysiological &clinical gradings, the study aims to assess the correlation between the deficiency of vitamin D and both electrophysiological and clinical gradings. This study was conducted in Ghazi Alhariri Hospital during the period from the first of November/2020 to the twenty-eighth of February/2021, fifty five individuals were referred to as Carpal tunnel syndrome patients, and compared to (55) control individuals, blood samples were withdrawn from the patients (3ml), centrifuged and kept in the freezer (-20°C) until the time of analysis of

... Show More
View Publication
Scopus (2)
Crossref (1)
Scopus Crossref
Publication Date
Tue Jun 23 2026
Journal Name
Journal Of Umm Al-qura University For Medical Science
Performance variation and implementation barriers of large language models in clinical healthcare: a systematic review
...Show More Authors

Large language models (LLMs) are a rapidly evolving class of artificial intelligence with significant potential in clinical healthcare. Despite accelerating adoption, rigorous systematic evidence on clinical utility, patient safety, and implementation feasibility remains fragmented. To systematically review LLM applications across clinical domains, evaluate performance with appropriate contextual caveats, characterize implementation barriers, and identify ethical and regulatory considerations. Scientific databases were searched from January 2020 to January 2025. Studies evaluating transformer-based LLMs (≥10M parameters) in clinical settings were eligible. Data were independently double-extracted; quality was assessed using QUADAS-2, RE-A

... Show More
View Publication Preview PDF
Crossref
Publication Date
Wed Jan 01 2020
Journal Name
Plant Archives
A novel finding of il-9 genetic polymorphism (rs17317275) and serum level in rheumatoid arthritis patients infected with CMV
...Show More Authors

RA is a complex chronic disease, primarily affects the lining of the synovial joints and can cause progressive disability, premature death, and socioeconomic burdens. The clinical manifestations of symmetrical joint involvement include arthralgia, swelling, redness, and even limiting the range of motion. The pathogenesis is not known therefore the study included Rheumatoid arthritis (RA) is one of systemic inflammatory diseases that characterized by a progressive disabling course. The study included patients suffering from RA and as healthy controls. immunological and genetic factor were evaluated in each subject by using serum level of cytokine and genetic factor. The etiopathology of the disease is not well known for this reason the study

... Show More
Scopus (5)
Scopus
Publication Date
Mon Jan 01 2018
Journal Name
Research Journal Of Pharmacy And Technology
Molecular Genetic variability in the D-loop region for females with Breast Cancer and the effect of the Chemotherapy
...Show More Authors

View Publication
Scopus (7)
Crossref (2)
Scopus Crossref
Publication Date
Sat Sep 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
Assessment of Dental Caries among Internally Displaced Children in Baghdad
...Show More Authors

Background: The internally displaced children are vulnerable groups have less access to dental services, worse oral health, and bear a disproportionate burden of oral diseases. Aim of the study: This study was conducted on group of internally displaced children living in Baghdad governorate camps to measure their dental caries prevalence and experience and find out the association between dental caries and the duration of displacement in camps. Subjects and methods: A sample of 1393 children were selected, 567 internally displaced children from camps in Baghdad governorate and 826 school children as control matching in age and gender. The age of children ranged from 5-12 years old. Oral examination was performed using WHO 2013 criteria, to

... Show More
View Publication Preview PDF
Crossref (1)
Crossref
Publication Date
Sun Jun 01 2008
Journal Name
Baghdad Science Journal
Dietary Assessment for Meals of Nurseries Children in Baghdad City
...Show More Authors

The objective of this study was to assess the nutritional status of childs of nurseries in Baghdad city so that an early detection of malnutrition cases could be carried out. The results revealed that the daily consumption of food calories, protein, fat and carbohydrate were 1180.5 calories, 27.2gm, 38gm and 180gm, respectively, which were less than the RDA values and the percentages of these nutrients supplied by the food intake were 90.8, 83.7, 87.3 and 90.3%, respectively. It was also demonstrated that the highest percentages of stunting, underweight and wasting, which amounted to 32, 22.7 and 1.5%, respectively, were among those childs who obtained inadequate calories, while the percentages of the forementioned malnutrition cases amon

... Show More
View Publication Preview PDF
Crossref
Publication Date
Tue Jan 01 2019
Journal Name
Annals Of Medicine And Surgery
The prevalence and correlation between subclinical hypothyroidism and gall stone disease in Baghdad teaching hospital
...Show More Authors

Scopus (6)
Scopus
Publication Date
Thu Oct 14 2021
Journal Name
Kufa Medical Journal
The Relationship between Knowledge and Practice in Clinical Breast Examination among Women in Baghdad, Iraq
...Show More Authors

Aim: This study aims to determine both the level  of knowledge, attitude, and practice  in clinical breast examination in women and the relationship between knowledge and practice.Data collection was performed within a three-month period starting from February 2019 on.  Subjects and Method: A cross-sectional analytical study included 657 non-randomly selected women visiting primary health care centers in Baghdad city with an average of age between (20-59) years old.  Results: Only 51.8% ever heard of clinical breast examination. The mean knowledge score for clinical breast examination was (51.2±44). Only 5.5% of women performed regular clinical breast examinations. Participants who adequately practice clinical breast examinatio

... Show More
View Publication
Crossref
Publication Date
Tue Jun 30 2020
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
Determination of some heavy Metals in tattoo Stickers in Children sweets available in local markets: Determination of some heavy Metals in tattoo Stickers in Children sweets available in local markets
...Show More Authors

The objective of this study is to determination the content of some heavy metals (lead, cadmium, chromium) in colored tattoo stickers. twelve kinds of colored tattoo stikcers were collected from Baghdad markets, it was estimated heavy metals using atomic absorption spectrophotometer (Shimadzu A5000). The results indicated the concentrations of lead in all samples (1.61_1.00 mg / kg) and chromium in the three samples (0.85_0.97 mg / kg) while other samples are free of chromium , and cadmium. These elements are the components of printing inks and dyes in tattoo stickers, and this does not conform to the health and safety conditions for the packaging of food according to the organizations of the health and safety of

... Show More
View Publication Preview PDF