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.
Platelet‐rich fibrin (PRF) has been widely used in regenerative dentistry due to many growth factors produced. Periostin, a matricellular protein, is a reliable marker for tissue regeneration. Periostin is part of the cellular matrix and regulates bone homeostasis. This study aims to explore the efficacy of PRF in improvement of the clinical periodontal parameters as an adjunct to the scaling and root planing and to evaluate periostin level in gingival crevicular fluid (GCF) at baseline, 1‐ and 3‐month recall visits. Fourteen periodontitis patients who met the inclusion criteria were recruited in this study. Two contralateral periodontal pockets with 4–6 mm in depth in each patient were sel
Amebiasis, related to the pathogenic parasite Entamoeba histolytica, is a prominent cause of diarrhea globally. Amebiasis is primarily a disease of impoverished communities in developing nations, although it has recently arisen as a significant infection among returning tourists and immigrants. Severe cases are linked to a high case fatality rate. Although polymerase chain reaction (PCR)-based diagnosis is becoming more widely available, it is still underutilized. Treatment with nitroimidazoles is now suggested, however novel parasite medication research is a top priority. To avoid problems, amebiasis should be considered before corticosteroid therapy. Because there is no effective vaccination, sanitation and availability to clean w
... Show MoreAmebiasis, related to the pathogenic parasite Entamoeba histolytica, is a prominent cause of diarrhea globally. Amebiasis is primarily a disease of impoverished communities in developing nations, although it has recently arisen as a significant infection among returning tourists and immigrants. Severe cases are linked to a high case fatality rate. Although polymerase chain reaction (PCR)-based diagnosis is becoming more widely available, it is still underutilized. Treatment with nitroimidazoles is now suggested, however novel parasite medication research is a top priority. To avoid problems, amebiasis should be considered before corticosteroid therapy. Because there is no effective vaccination, sanitation and availability to clean w
... Show MoreBackground: First six to twelve months after initial urinary tract infection, most infections are caused by Escherichiacoli, although in the first year of life Klebsiella pneumoniae, Pseudomonas, Enterobacter spp andEnterococcus spp, are more frequent than later in life, and there is a higher risk of urosepsis compared with adulthood
Objectives: To determine the prevalence of bacterial isolates from Urinary Tract Infections of children at a children hospital in Baghdad and their antimicrobial susceptibility patterns.
Type of the study: Cross-sectional study.
Methods: During six months of study (1 June to 31 Dece
... Show MoreThe study was conducted on twenty dogs from variety breeds to estimate the
incidence of tumor mass and determine the risk factors of survey to cases of a year
in veterinary hospital in Baghdad. The most common clinical signs were, ulceration,
bleeding into lesions in addition to drowsiness, anorexia, fever and the others were
depended tumor's location in dog's body like lameness, lacrimation and bloody
constipation etc.
The results showed 70% of the infected dogs were working with military forces
and 30% of them were pet dogs and we found that the highest percentage of tumor
accrued in dogs aged more than 10 years and the females recorded 60% of infection.
Terrier breed had the highest percentage of infection (
Background: Obesity has become one of the most important public heath problems all over the world.An epidemic of obesity is affecting children and adolescents across the developed and developing countries in recent years. As the prevalence of obesity increased, so did the prevalence of co morbidities like metabolic and endocrine diseases.Objectives: To overview obesity clinical features and the prevalence of associated co morbidities in children and adolescents attended the obesity researches and therapy center in Alkindy medical collage.Type of study: This is a cohort observational studyMethods : Obese child and adolescents aged 4-15year attended the obesity research and therapy unit in AL Kindy medical collage from the 1st of September
... Show MoreAfamin, which is a human plasma glycoprotein, a putative multifunctional transporter of hydrophobic molecules and a marker for metabolic syndrome. Afamin concentration have been proposed to have a significant role as a predictor of metabolic disorders. Since NAFLD is associated with metabolic risk factors, e.g., dyslipidemia, insulin resistance and visceral obesity, it is considered as the hepatic manifestation of the metabolic syndrome. The objective of this study is to determine Afamin levels in hypothyroid patients with and without fatty liver disease and compare the results with controls. Also to study the relationship of Afamin level with the Anthropometric and Clinical Features (Age, Gender, BMI and Duration of Hypothyroidism) , Serum
... Show MoreChronic renal disease (CRD) is a pathophysiologic process with multiple etiologies, resulting in the inexorable attrition of Nephron number and function and frequently leading to end-stage renal disease (ESRD). In turn, ESRD represents a clinical state or condition in which there has been an irreversible loss of endogenous renal function, of a degree sufficient to render the patient permanently dependent upon renal replacement therapy (dialysis of transplantation) in order to avoid life threatening uremia, reflecting a dysfunction of all organ systems as a result of untreated or under treated acute or chronic renal failure. The current study was involved 80 patients, the age range within 25-70 ye
... Show MoreMultiple sclerosis (MS) is one of an autoimmune condition with uncertain etiopathology. According to new data, ABO system had played a role in the development and understanding numerous diseases. Lower level of 25-hydroxy vitamin D3 (25-OHD3) is considered as a risk factor for MS. The aims of this study is to identify the role of blood group distribution on the levels of parathyroid hormone (PTH), 25-OHD3, total calcium, inorganic phosphorus and total magnesium on MS patients. Additionally, we assessed the relation between Expanded Disability Status Scale (EDSS) and study parameters in patients. The Study included 107 patients with MS were distributed in to four groups according to their blood group (A, B, AB, and O). Additi
... Show More