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: Cerebral palsy is non-progressive disorder of posture or movement due to a lesion of the developing brain. It is the commonest physical disability in childhood. Objective: To study the clinical, neurological abnormalities, prevalence of convulsion (epilepsy) & to asses the value of CT scans of brain in patients with cerebral palsy.
Significant risks to human health are posed by the 2019 coronavirus illness (COVID-19). SARS coronavirus type 2 receptor, also known as the major enzyme in the renin-angiotensin system (RAS), angiotensin-converting enzyme 2 (ACE-2), connects COVID-19 and RAS. This study was conducted with the intention of determining whether or not RAS gene polymorphisms and ACE-2 (G8790A) play a part in the process of predicting susceptibility to infection with COVID-19. In this study 127 participants, 67 of whom were deemed by a physician to be in a severe state of illness, and 60 of whom were categorized as "healthy controls" .The genetic study included an extraction of genomic DNA from blood samples of each covid 19 patients and healthy control
... Show MoreBackground: Behçet’s disease (BD) is a disorder of systemic inflammatory condition. Its important features are represented by recurrent oral, genital ulcerations and eye lesions. Aims. The purpose of the current study was to evaluate and compare cytological changes using morphometric analysis of the exfoliated buccal mucosal cells in Behçet’s disease patients and healthy controls, and to evaluate the clinical characteristics of Behçet’s disease. Methods. Twenty five Behçet’s disease patients have been compared to 25 healthy volunteers as a control group. Papanicolaou stain was used for staining the smears taken from buccal epithelial cells to be analyzed cytomorphometrically. The image analysis software has been used to
... Show MoreBACKGROUND: Sickle cell nephropathy, a heterogeneous group of renal abnormalities resulting from complex interactions of sickle cell disease (SCD)-related factors and non-SCD phenotype characteristics, is associated with an increased risk for morbidity and mortality. AIMS: The aims of this study were to determine the frequency of microalbuminuria (MA) among pediatric patients with SCD and to determine risk factors for MA among those patients. SUBJECTS AND METHODS: A case–control study was carried out on 120 patients with SCD, 2–18 years old, registered at Basrah Center for Hereditary Blood Diseases, and 132 age-and sex-matched healthy children were included as a control group. Investigations included complete blood panel, blood urea, se
... Show MoreBackground: Guillain Barré syndrome is an acute inflammatory demyelinating disease of the peripheral nerves. Its synonyms are: acute inflammatory demyelinating polyradiculoneuropathy, idiopathic polyneuritis, acute infective polyneuropathy and post infections polyneuritis. Objectives: We attempt to study the clinical presentations and complications in patients with GBS who were admitted to children welfare Teaching Hospital and to compare the results with the other studies.Type of the study: A retrospective study.Methods: A study done on seventy patients with GBS who were admitted to children Welfare Teaching Hospital in Medical City-Baghdad from different parts of Iraq between January 2002-December 2006.Results: Forty (57.14%) of them
... Show MoreThe study included 200 samples were collected from children under two years included (50 samples from each of Cerebrospinal fluid, Blood, Stool and Urine) from, (Central Children Hospital and Children's Protections Educational Hospital) The Iraqi Ministry of Health, the Department of Health Baghdad .the period from the first of 2015 September to the first of December 2015, Were obtained isolates bacterial subjected to the cultural, microscopic and biochemical examination and diagnosed to the species by using vitek2 system .The results showed there were contamination in 6.5% of clinical samples. The diagnosed colonies which gave pink color on the MacConkey agar, golden yellow color on the Trypton Soy agar and green color on t
... Show MoreThe performance of the Indian wheat varieties (PBW34, PBW343 and WH542) was compared with the local varieties (Tamose – 2 and Abu Ghareeb). The experiment was conducted during two seasons first 2000-2001 and second 2001-2002 at AL- Twaitha experimental station , middle of Iraq. The results showed that (Tamose – 2) exceeded the other varieties in plant height and heading date in the two seasons, while WH542 gave the lowest plant height. PBW34 variety showed a significant increase in 1000 grain weight followed by PBW343 in the second season. Moreover, PBW34 and PBW343 gave the highest average of 50 spike weight in the second season. 
... Show MoreGrowth hormone deficiency is a condition that occurs when a limited volume of growth hormone is released by the pituitary gland since growth hormone deficiency causes growth delays, short stature, and overall physical development delays. symptoms differ based on the age at which they occur .Aim of this study Estimating the level of growth hormone serotonin ,IGF-1 and Chromogranin A before and after with treatment recombinant growth hormone and It is the first study in Iraq that sheds light on the relationship between Chromogranin and other variables ( somatostatin, IGF-1,GH) ,also the prediction of Chromogranin A as a newly biochemical marker in children with growth hormone deficiency. In this study, 30 samples were collected from children
... Show MoreBackground: Blastocystis spp. distributes world widely and the genus Blastocystis include many subtypes that are isolated from human intestinal tract. It is considered the most common parasite detected in human being.
Objectives: To evaluate the incidence of Blastocystis spp. among leukemic children, to find out its association with the presence of symptoms (diarrhea and abdominal pain), and to assess the efficacy of different staining methods in detection of Blastocystis spp.
Type of the study: cross-sectional study.
Method: 103 children were enrolled in this study, 53 leukemic patients and 50 healthy con
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