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: Breast cancer is the most common malignancy affecting the Iraqi population and the leading cause of cancer related mortality among Iraqi women. It has been well documented that prognosis of patients depends largely upon the hormone receptor contents and HER-2 over expression of their neoplasm. Recent studies suggest that Triple Positive (TP) tumors, bearing the three markers, tend to exhibit a relatively favorable clinical behavior in which overtreatment is not recommended. Aim: To document the different frequencies of ER/PR/HER2 breast cancer molecular subtypes focusing on the Triple Positive pattern; correlating those with the corresponding clinico-pathological characteristics among a sample of Iraqi patients diagnosed with th
... Show MoreLeukemia or cancer of the blood is the most common childhood cancer, Acute lymphoblastic leukemia (ALL), is the most common form of leukemia that occurs in children. It is characterized by the presence of too many immature white blood cells in the child’s blood and bone marrow, Acute lymphoblastic leukemia can occur in adults too, treatment is different for children. Children with ALL develop symptoms related to infiltration of blasts in the bone marrow, lymphoid system, and extramedullary sites, such as the central nervous system (CNS). Common constitutional indications consist of fatigue (50%), pallor (25%), fever (60%), and weight loss (26%). Infiltration of blast cells in the marrow cavity and periosteum often lead to bone
... Show MoreBackground: A carefully planned clinical medical education is critical for the provision of supportive clinical educational environment. The latter will ensure effective teaching, active learning and good attitudes and performance at the bedside. The aim of this study was to evaluate clinical learning environment at AL-Diwaniyah Teaching Hospital. Materials and Methods: A descripitive cross-sectional study involved resident doctors from Internal Medicine and Surgery departments who had six months or more residency training in the respective departments. Data were collected using the Postgraduate Hospital Educational Environment Measure. Data where analyzed using the Statistical Package for Social Sciences version 21.0 and presented us
... Show MoreNeuron-derived neurotrophic factor [NENF], a human plasma neurotrophic factor, also increases neurotrophic activity in conjunction with Parkinson's disease-related proteins in Neudesin. Although Neudesin (neuron-derived neurotrophic secreted protein) is a member of the membrane-associated progesterone receptor (MAPR) protein subclass, it is not evolutionary related to the other members of the same family. The expression of Neudesin is found in both brain and spinal cord from embryonic stages to adulthood, as w Neudesin levels in Parkinson's patients with osteoporosis disease and Parkinson's patients without osteoporosis disease, as well as the relationship between Neudesin levels, Anthropometric and Clinical Features (Age, Gender, BMI) and
... Show MoreKESMM Al, WAA Al-Nuaimy
KE Sharquie, MM Al-Waiz, AA Al-Nuaimy, IRAQI JOURNAL OF COMMUNITY MEDICINE, 2006