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.
Back ground: Oral isotretinoin is recommended
for sever nodulocystic acne in the doses 0.5-
2mg/kg/day which is usually associated with higher
incidence of adverse effects. To reduce the
incidence of side-effects and to make it more costeffective,
the lower dose regimen of isotretinoin has
been used.
Aim: To compare the efficacy and tolerability of
oral isotretinoin 10mg and 20mg/day in acne
vulgaris.
Methods: one hundred and twenty patients with
acne vulgaris were randomized into two treatment
regimens each consisting of 60 patients. The first
was treated with 10mg/day and the second group
with 20mg/day for 24 weeks. Fifty five patients
from the first group and 47 patients from the second
Background: This study aims to assess the prevalence of malposed canines among students of College of Dentistry/ University of Baghdad and evaluate the relation between canine malposition and occlusal features.
Material and method: The prevalence of buccally malposed canines was estimated by intra-oral visual examination of 250 young adult subjects (106 males and 144 females), their ages were between 19-24 years.
Results: The prevalence of the mandibular malposed canine (12%) was higher than the maxillary buccally malposed canine (10%). Generally, malposed canines were found higher in f
... Show MoreThe aim of this research is subjected to discover The Dictation mistakes which occur
widely in the Arabic Language written by Iraqi – News papers.
The research classified These Mistakes in Three groups as Follows:
1. The first group dealing with distinguishing between the Arabic – letter ) ا ( When Written
or ) أ ( at The beginning The word and as ) ئ ( which differ in meaning from each other .
2. The second group dealing with the writing of The Arabic ) ٙ( and as ) ٛ( at the end of The
word which differ in meaning from each other.
3. The Third group dealing with distinguishing in written The Arabic letter as ) ض( or as ) )ظ
which differ in meaning From each other.
4. The fourth group dealing with Th
The present research is concerned with studying the appearance and essence of meaning in contemporary sculpture by addressing the problematic how to flow of meaning its multiplicity and the flow of its surplus, resulting from the transformations of the artistic form and the variety of its methods which results to a new and different strategies in circulation and aesthetic reception to achieve this task, we have relied on models of modern Iraq sculpture, which fit in its form and raw materials with the concept of phenomenon studied. Therefore, the research topic were divided into four axes:- the first axe included an introduction about the subject. The introduction included the problems of research and its importance, aim repr
... Show MoreObjective: This study aimed to assessing new suggested technique of Physical Growth Curves (PGC) charts in
children under two years old of a non-probability sample.
Methodology: A non-probability sample of size (420) children under two years selected from 12 Primary
Health Care Centers in Diyala governorate during the period from 15th Nov. 2010 to 13th Mar. 2011
according to admix of a different properties together in one chart/or growth curve chart included in at least
weight, Height, and Head circumference.
Results: the results showed different properties that can be admix together in one chart/or growth curve
chart included in at least weight, Height, and Head circumference. And to overtake the problem of the norm
The present study aimed to investigate the anatomical and histological, aspects of the stomach in two different Iraqi birds, (common wood pigeon, Columba palumbus (herbivorous) and the barn owl, Tyto alba (carnivorous). Stomach in the two studied birds IS divided into two parts, glandular or true stomach (proventriculus) and the muscular stomach or gizzard (ventriculus). Proventriculus in the common wood pigeon appeared as fusiform shaped tube and separated from the gizzard by isthmus while in the barn owl, it was pearsshaped , wider and shorter than that of the common wood pigeon and not separated from the gizzard by isthmus. In common wood pigeon, gizzard appeared as biconvex lens lining with yellowish green tissue, the koilin , while
... Show MoreThe aim of this study is to find a relationship between oxidative stress and adiponectin in Iraqi patients with acromegaly. The present study included 30 patients with acromegaly disease attending at Al-Yarmuk teaching hospital , and 30 healthy individuals as a control group.The two groups with ages ranging (30-55) years. The results revealed a highly significant elevation in all parameters (GH,IGF-1 , adiponectin , malondialdehyde , and peroxynitrite ) levels in sera of patients when compared with healthy control .It can be concluded that oxidative stress (malondialdehyde and peroxynitrite ) may be valuable in detecting of endocrine diseases like acromegaly .
The aim of this study is to find a relationship between oxidative stress and adiponectin in Iraqi patients with acromegaly. The present study included 30 patients with acromegaly disease attending at Al-Yarmuk teaching hospital , and 30 healthy individuals as a control group.The two groups with ages ranging (30-55) years. The results revealed a highly significant elevation in all parameters (GH,IGF-1 , adiponectin , malondialdehyde , and peroxynitrite ) levels in sera of patients when compared with healthy control .It can be concluded that oxidative stress (malondialdehyde and peroxynitrite ) may be valuable in detecting of endocrine diseases like acromegaly .