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.
Background: Parkinson's disease (PD) is a neurodegenerative aging disease, with idiopathic PD being most common. Gastrointestinal tract disorders (GITD) and microbiota changes may trigger idiopathic PD. Neurotoxins from microbiota can travel from the gut to the brain via the brain-gut axis (BGA), leading to α-syn protein misfolding and dopaminergic neuron death. Methods: The aim of the current study was to investigate the link between PD and GITD by measuring several biochemical and immunological markers in 142 patients. The biochemical markers measured were vitamins B6, B12, and D, calcium, serotonin, ghrelin, dopamine, and α-syn protein. The immunological markers included transforming growth factor-beta (TGF-β), tu
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Background: The vertical distance between the upper and lower incisal edge of the central incisors when the mouth is opened as wide as possible is called maximum mouth opening (MMO). Any pathological change in the masticatory system had a direct effect on the maximal mouth opening. The aim of this study was to evaluate the relationship between the maximum bite force and the maximum mouth opening among group of children. Materials and methods: Four hundred children of both genders were included in this study, their age ranged from eight to ten years. Anterior and posterior (right, left) bite force were measured using bite force sensor. Maximum mouth opening was evaluated by electronic digital caliper. Data was statistically analyzed
... Show MoreBackground: The vertical distance between the upper and lower incisal edge of the central incisors when the mouth is opened as wide as possible is called maximum mouth opening (MMO). Any pathological change in the masticatory system had a direct effect on the maximal mouth opening. The aim of this study was to evaluate the relationship between the maximum bite force and the maximum mouth opening among group of children. Materials and methods: Four hundred children of both genders were included in this study, their age ranged from eight to ten years. Anterior and posterior (right, left) bite force were measured using bite force sensor. Maximum mouth opening was evaluated by electronic digital caliper. Data was statistically analyzed by de
... Show MoreThe Child is the first sedum for the human society performing, and we deal in our
research to explain the nature of the mutual relations in between the form and the medicine
social caring foundation. So the motherhood and the childhood nowadays become the most
dedicated in the researchers works, whom interesting in the social affairs, and that whom
work in the medicine field as scientists.
So the child is the future man and must be in wright body construction that need to great
care and interest to make him wright mind through capability of performing anything support
to him.
In our research we deal with the main factors in which lead to infect the child by the
creative malfunction, like the environmental and m
This study was designed to determine the percentage and the main causative agent causing bacteremia among children aged up to 12 years and complaining from different types of infections (Respiratory, intestinal, and urinary tract infection) in Baghdad. Results showed that the percentage of infection was 46.19 % the main causative agents were Enterobacteriaceae including (E.coli , Pseudomonas , Salmonella.typhi .Serratia , Enterobacter , Klebsiella )and other than Enterobacteriaceae which includes(Staph.aureus , Staph.epidermidis , Streptococcus.Pneumonia and ?-hemolytic streptococci ) .Regarding the age factor ,results showed that the highest infection rate was among the age group (1 day-12 month ) and (12 -36month ) (64.89%)an
... Show MoreTetralogy of Fallot (TOF) is the most prevalent cyanotic congenital heart disease, for which surgical correction remains the definitive treatment. Balloon dilatation of the pulmonary artery provides recognised immediate palliative benefits in selected TOF patients. Nonetheless, optimal patient selection and midterm outcomes remain subjects of ongoing debate. This study aimed to assess midterm results following pulmonary valvoplasty at 6 months period in children with TOF focusing on defining factors that affect response to palliative therapy
Background: During Annual statistical report published by the Iraqi ministry of health the year 2004 showed that mortality rate was 0.15 per 1000 of diarrheal episodes among children under five years.Objectives: To study the occurrence of Shigellosis and Entamoeba histolytica in a sample of children from certain hospitals in Baghdad and determine its relation to some demographic factors.Methods: This cross sectional study was carried out in Baghdad city involving 400 children with bloody diarrhea under five years of age attending four hospitals, 130 cases from Central Pediatric Hospital, 110 cases from Al Mansoor Pediatric Hospital, 90 cases from Al Kadhimya Teaching Hospital and 70 cases from Mohammed Baaqir Al Hakeem Hospital for the p
... Show MoreTo evaluate the cost-effectiveness of emicizumab compared to recombinant activated factor VII (rFVIIa) in Iraqi patients with hemophilia A and inhibitors.
A retrospective cost-effectiveness analysis was conducted on 46 male patients with hemophilia A and inhibitors treated at a public children’s hospital in Baghdad. Data collection was conducted between November 2024 and March 2025. Clinical and economic data were retrospectively collected for a 12-m
SUMMARY. The objectives of the present study were to assess the possible predictors of COVID-19 severity and duration of hospitalization and to identify the possible correlation between patient parameters, disease severity and duration of hospitalization. The study included retrospective medical record extraction of previous coron avirus COVID-19 patients in Basra hospitals, Iraq from March 1st and May 31st, 2020. The information of the participants was investigated anonymously. All the patients’ characteristics, treatments, vital signs and laboratory tests (hematological, renal and liver function tests) were collected. The analysis was conducted using the SPSS (version 22, USA). Spearman correlation was used to measure the relations
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