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: The timing of eruption of permanent teeth is of considerable importance to the dental health planning for diagnostic, preventive and therapeutic measures for children and teenagers. The purposes of this study were to determine timing of maxillary and mandibular permanent teeth emergence (except third molars) and to evaluate the effect nutritional status by anthropometric measures on the eruption time of permanent teeth, investigations had been done according to jaw and gender variations. Materials and Methods: This study was conducted among four to fifteen years old children and teenagers from kindergarten and schools in Basrah city in the south region of Iraq. The total sample composed of 1807 children and teenagers that were
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The current research aims to examine the effectiveness of a training program for children with autism and their mothers based on the Picture Exchange Communication System to confront some basic disorders in a sample of children with autism. The study sample was (16) children with autism and their mothers in the different centers in Taif city and Tabuk city. The researcher used the quasi-experimental approach, in which two groups were employed: an experimental group and a control group. Children aged ranged from (6-9) years old. In addition, it was used the following tools: a list of estimation of basic disorders for a child with autism between (6-9) years, and a training program for children with autism
... Show MoreAsthma is one of the most common chronic, non-communicable diseases affecting children worldwide. The estimated prevalence of pediatric asthma in Iraq is 15.8%. Physiologic, inflammatory and structural factors contribute to the development of asthma. Assessment and monitoring of asthma control can be done by a validated children asthma control test (CACT). Management of asthma must address three components which are an appropriate management plan, the most appropriate medication if necessary, and the use of safe and effective medication. The management plan should consider patient counseling and education about the definition of asthma, signs, and symptoms, the pathophysiology of asthma, common triggers for asthma and how can avoid them,
... Show MoreThe self-awareness interactions reflects with emotions,assess the child in respect to its relations with the social standards; they are not merely simply reactions , but rather they connect with his moral behavior and other 's thinks. When the self- awareness gets developed with emotions within the child , the latter become highly sensitive, causing him prone to be blamed . AS a result , the children test the self –awareness interactions with emotions and in age 3 years , where the self –awareness interactions with emotion clearly link to the self- assessment. The children in stage of kindergarten could not describe the self-awareness interactions accurately ; they test it under different circumstances in comparison to the youngest o
... Show MoreThe childhood stage is considered the most important stage of all the stages through
the human being’s life. In this stage the human being will be more affected by the various
factors that surround him/her. The first five years of his/her life leave a great impact not only
on the human being personality, but also on his/her whole life. Therefore, it is worthwhile tobe concerned with and focus at the raising up and the teaching of the child during the
childhood stage.
The mission of raising up children in this era - the era of globalization and information
bursting or news flooding – has become a very difficult or even an impossible mission.
Furthermore, not only in the Arabic world, but also all over the world, t
The aim of this study is to evaluate the association between IBD and oral symptom and mucosal lesions in patients with Crohn’s disease and ulcerative colitis
Methods: This is a cross-sectional study that has been done in (Kurdistan center for Gastroenterology and hepatology) of Teaching Hospital in Sulaymaniyah-Iraq, which included 101 patients previously diagnosed with Inflammatory Bowel Disease who were interviewed regarding manifestations of inflammatory bowel disease especially oral manifestations. Required data were collected through a specially designed questionnaire,
Results: The patients’ mean age was 45.74±12.58 years. Patients with ulcerative colitis and Crohn’s disease w
... Show MoreThe aim of this research to show the role of some enzymes in pathological mechanism of rheumatoid arthritis (RA) disease. Sixty patients with RA and matched number of apparently healthy volunteers were included in the study. Spectrophotometric methods were used to determine Peroxy nitrite (ONOO), Nitric oxide (NO), Nitric oxide synthase activity (NOS) cycloxygenase-2 activity (COX-2), glutathione peroxidase (GPX) activity and superoxide dismutase (SOD) activity in serum of both groups. Colorimetric assay kits were used to determine Iron. Rheumatoid factor (RF) was determined using Imuno-Latex kit. ONOO, NO levels, and NOS activity were significantly higher in the patients compared to the control group. Conversely, Iron level, SOD
... Show MoreBackground : The hepatopulmonary syndrome (HPS) is defined as the triad of liver disease, arterial deoxygenation, and pulmonary vascular dilatation. The reported prevalence of HPS in cirrhotic patients varies between 5% -17.5%.Objective : To estimate the prevalence of hepatopulmonary syndrome among patients with chronic liver disease and portal hypertension and to study the correlation between HPS and the severity of liver disease.Patients and methods : Thirty patients were studied for the presence of HPS using transthoracic contrast echocardiography for detection of pulmonary vasodilatation. Arterial oxygen saturation (SaO2) was determined in erect and supine position using a pulse oximeter , (SaO2 ≤ 92 % in supine position and/or a d
... Show MoreCeliac disease (CD) is an immune-mediated disorder caused by gluten in genetically susceptible individuals characterized by chronic inflammation that essentially affects the small intestine. Objective: this study was designed to measure the potential role of some serological biomarkers including vitamin B12 and homocysteine (HCY) in the progression of CD as well as their relations to global DNA methylation (5mC). Materials and methods. Forty CD patients were enrolled in the study with an average age of (36.60 ± 2.03) years (range between 15 and 60). The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy in Gastroenterology and Liver Teaching Hospital in the Medical City Hospital in Baghdad
... Show MorePeriodontitis is one of the most prevalent bacterial diseases affecting man with up to 90% of the global population affected. Its severe form can lead to the tooth loss in 10-15% of the population worldwide. The disease is caused by a dysbiosis of the local microbiota and one organism that contributes to this alteration in the bacterial population is Prophyromonas gingivalis. This organism possesses a range of virulence factors that appear to contribute to its growth and survival at a periodontal site amongst which is its ability to invade oral epithelial cells. Such an invasion strategy provides a means of evasion of host defence mechanisms, persistence at a site and the opportunity for dissemination to other sites in the mouth. However, p
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