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.
Adherence to cardiac medications makes a significant contribution to avoidance of morbidity and premature mortality in patients with cardiovascular disease. This quantitative study used cross‐sectional survey design to evaluate medication adherence and contributing factors among patients with cardiovascular disease, comparing patients who were admitted to a cardiac ward (
Parental socialization trends impacting seriously on the growth of individual
personality and psychological health trends ,love, acceptance and on confidence help
children to grow as a person who loves other accept others and trust and negative parental
attitudes such as excess portents us or negligence . and the focusing and demonstrate a
negative impact on the growth of excess an mental health and family play a significant role in
a childes life we can see how many manifestation of compatibility or incompatibility thatappear on individual behaviors and achieve their success or failure in life be returned to the
of human relations that prevailed between the family members of children in various stages of
his life fi
The study is concerned with the problem of the earthly identity of kindergarten children by verifying its aims in identifying the earthly identity of the first level of kindergarten children and the earthly identity of both levels of the kindergarten. The research also aims to identify the earthly identity of male and female kindergarten children. The study population is represented in public and private kindergartens on both sides of Baghdad city, Karkh & Rusafa for the academic year (2022-2023). The earthly identity test in its final form consisted of (10) items. The test was administered to a sample of (400) children in public and private kindergartens, who were selected randomly. The results showed that kindergarten children have
... Show MoreChronic myeloid leukemia (CML), is one of the myeloproliferative disorders with a characteristic cytogenetic abnormality resulting in the BCR-ABL fusion gene. Imatinib Mesylate is an effective agent for treating patients in all stages of CML. According to the annual Iraqi cancer registry 2019, the total number of chronic myeloproliferative disorders was 338. The percentage and incidence rates were 0.94% and 0.86%, respectively, with a higher incidence rate in males than females (1.12 in males and 0.60 in females). In this registry, no details about CML, so this study aimed to estimate the number of CML patients who attended the national center of hematology from 2005 until 2020 and investigate their epidemiological and clinic-pathol
... Show MoreOrphenadrine is an anticholinergic ,antimuscarinic , centrally acting skeletal muscle relaxant .It presents in the form of citrate and HCl salts which are used in treatment of the symptoms of mild Parkinson's disease and also it is used as adjuvant with other drugs in the therapy .
Many trials were made to formulate Orphenadrine citrate as a plain tablet using wet granulation or direct compression technique in order to get a satisfactory formula through studying the effect of various factors such as binders , diluents and disintegrants types .
The best formula was obtained by using Poly Vinyl Pyrolidine (PVP) as a binder also the results indicated that starch and mannitol
... Show MoreBackground : Breast cancer is the most common cancer of
women. When breast cancer is detected and treated early,
the chances for survival are better. Surgery is the most
important treatment for non-metastatic breast cancer.
Al-Kindy Col Med J 2008 Vol.5(1) 40 Original Article
Objectives : The aim of this study is to review different
clinical presentation and to evaluate types of surgical
procedures and complications in treatment of nonmetastatic breast cancer.
Method : During the period from Jun 1998 to May 2005,
93 patients with non-metastatic breast cancer were
diagnosed and treated surgically in 2 hospitals in Baghdad (
Hammad Shihab military hospital and Al-Kindy teaching
hospital).
Results : Wo
Background:Parkinson’disease(PD) is a neurodegenerative disorder of the central nervous system characterized by resting tremor, bradykinesia, cogwheel rigidity, and impairment of postural reflexes; the frequency of PD increases with aging.Clinically Parkinson's disease characterized by two groups of symptoms: motor and non-motor symptoms.Non-motor symptoms can be categorized as autonomic, cognitive/psychiatric (may include depression, dementia, anxiety, hallucinations), sensory and rapid eye movements (REM) sleep behavior disorder (RBD).
Objectives:The objectives of this study are to find out the frequency of the non-motor symptoms of idiopathic Parkinson disease in a group of patients in Baghd
... Show MoreObjective: to evaluate body image and depression symptoms of children with precocious puberty, and find out association between children`s sociodemographic characteristics and their body image and depression signs. Methodology: A cross sectional study, sample of (80) child from both gender, > 7 years were included due to their ability to express their own feeling, diagnosed with precocious puberty, attending out-patient endocrine clinics at pediatric hospitals in Baghdad city. Data collected, during the period from May to November 2018. Consent form has taken from children and their guardians to participate in study. Child body image scale (CBIS) was used to evaluate children body satisfaction (1) and Mood and feeling questionnaire (M
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