18 research outputs found
Sickle Cell Disease (SCD)
Sickle cell anemia (SCA) is a disease that is caused by the formation of an abnormal hemoglobin type, which can bind with other abnormal hemoglobin molecules within the red blood cells (RBCs) to cause rigid distortion of the cell. This distortion prevents the cell from passing through small blood vessels; leading to occlusion of vascular beds, followed by tissue ischemia and infarction. Infarction is frequent all over the body in patients with SCA, leading to the acute pain crisis. Over time, such insults result in medullary bone infarcts and epiphyseal osteonecrosis. In the brain, cognitive impairment and functional neurologic deficits may occur due to white matter and gray matter infarcts. Infarction may also affect the lungs increasing susceptibility to pneumonia. The liver, spleen, and kidney may show infarction as well. Sequestration crisis is an unusual life-threatening complication of SCA, in which a significant amount of blood is sequestered in an organ (usually the spleen), leading to collapse. Lastly, since the RBCs are abnormal, they are destroyed, resulting in a hemolytic anemia. However, the ischemic complications in patients with SCA disease far exceed the anemia in clinical significance
Leptin, insulin and thyroid hormones in a cohort of Egyptian obese Down syndrome children: a comparative study
Cytoprotective effect of honey against chromosomal breakage in fanconi anemia patients in vitro
Background : Natural honey is widely used all over the world as a complementary and alternative medicine in various disorders including Fanconi anemia (FA). FA is a rare genetic chromosomal instability syndrome caused by impairment of DNA repair and reactive oxygen species (ROS) imbalance. This disease is also related to bone marrow failure and cancer. The aim of this study was to evaluate the cytoprotective effect of honey on mitomycin C (MMC-) induced chromosomal damage in peripheral lymphocytes from FA patients.
Materials and Methods :Treatment of these complications with alkylation agents MMC may enhance chromosomal breakage. We have evaluated the effect of honey on MMC- induced chromosomal breakage in FA blood cells using chromosomal breakage assay. The basal chromosomal breakage count was higher among FA patients than healthy subjects.
Results : The addition of MMC alone gave a significantly higher of chromosomal breakage in FA patients than control group (P < 0.0001). Pre- treatment with honey significantly inhibited breakage induced by MMC in FA patients by its antioxidant effect.
Conclusion : Honey can prevent MMC- induced chromosomal breakage by its antioxidant effect
Cytoprotective effect of honey against chromosomal breakage in fanconi anemia patients in vitro
Background : Natural honey is widely used all over the world as a
complementary and alternative medicine in various disorders including
Fanconi anemia (FA). FA is a rare genetic chromosomal instability
syndrome caused by impairment of DNA repair and reactive oxygen species
(ROS) imbalance. This disease is also related to bone marrow failure
and cancer. The aim of this study was to evaluate the cytoprotective
effect of honey on mitomycin C (MMC-) induced chromosomal damage in
peripheral lymphocytes from FA patients. Materials and Methods
:Treatment of these complications with alkylation agents MMC may
enhance chromosomal breakage. We have evaluated the effect of honey on
MMC- induced chromosomal breakage in FA blood cells using chromosomal
breakage assay. The basal chromosomal breakage count was higher among
FA patients than healthy subjects. Results : The addition of MMC alone
gave a significantly higher of chromosomal breakage in FA patients than
control group (P < 0.0001). Pre- treatment with honey significantly
inhibited breakage induced by MMC in FA patients by its antioxidant
effect. Conclusion : Honey can prevent MMC- induced chromosomal
breakage by its antioxidant effect
Cytogenetic and comorbidity profile of Down syndrome in Mansoura University Children's Hospital, Egypt
Background: Down syndrome (DS) is the most common chromosomal disorder. It has three chromosomal patterns.
Aim: To determine the cytogenetic and comorbidity profiles of DS in the Genetic Unit of Mansoura University Children′s Hospital, Mansoura, Egypt.
Materials and Methods: A retrospective analysis was performed on the case records of 712 cytogenetically diagnosed cases of DS at the Genetic Unit of Mansoura University Children′s Hospital, Egypt, during a 10-year period.
Results: About 19% of the cases had one or more cardiac anomalies and about 8% were hypothyroid. Nondisjunction was the most common type of abnormality, followed by translocation and lastly mosaic: 96.1, 3.1, and 0.8%, respectively. Hypothyroidism was significantly more common in translocation and mosaic karyotypes than in the nondisjunction karyotypes. First and second birth orders were significantly higher in the translocation and mosaic groups than in the nondisjunction group. Mothers are significantly older at the index pregnancy in the nondisjunction group than in the other two groups. We compared our findings with those of previous studies.
Conclusion: Knowing karyotype of DS will help in genetic counseling of the parents. Wide-scale national community-based survey with DS registry could help in estimating the size of the problem
Cytogenetic and comorbidity profile of Down syndrome in Mansoura University Children's Hospital, Egypt
Background: Down syndrome (DS) is the most common chromosomal disorder.
It has three chromosomal patterns. Aim: To determine the cytogenetic
and comorbidity profiles of DS in the Genetic Unit of Mansoura
University Children\u2032s Hospital, Mansoura, Egypt. Materials and
Methods: A retrospective analysis was performed on the case records of
712 cytogenetically diagnosed cases of DS at the Genetic Unit of
Mansoura University Children\u2032s Hospital, Egypt, during a 10-year
period. Results: About 19% of the cases had one or more cardiac
anomalies and about 8% were hypothyroid. Nondisjunction was the most
common type of abnormality, followed by translocation and lastly
mosaic: 96.1, 3.1, and 0.8%, respectively. Hypothyroidism was
significantly more common in translocation and mosaic karyotypes than
in the nondisjunction karyotypes. First and second birth orders were
significantly higher in the translocation and mosaic groups than in the
nondisjunction group. Mothers are significantly older at the index
pregnancy in the nondisjunction group than in the other two groups. We
compared our findings with those of previous studies. Conclusion:
Knowing karyotype of DS will help in genetic counseling of the parents.
Wide-scale national community-based survey with DS registry could help
in estimating the size of the problem
Mothers’ personality and children with feeding and eating disorders: a nested case–control study
Abstract Background Feeding and eating disorders are major factors in nutrition problems. Mothers have a big role in shaping feeding and eating behaviors. This study aimed at estimating the prevalence of feeding and eating disorders among children in pediatric outpatient clinics (6–12 years old) and comparing personality factors among mothers of children with feeding and eating disorders versus those without feeding and eating disorders. Results This study included 528 children who were screened for feeding and eating disorders using the DSM-5. For the detected children, their mothers’ personalities were assessed using Cattell’s 16 personality factor test after history was taken using a child psychiatric sheet. The resulting prevalence of feeding and eating disorders is 13%, and the major mother’s personality factor that contributed is the control factor. Conclusions Certain personality factors of the studied mothers (controlled, tender-minded, imaginative, forthright, and apprehensive) correlate with the prevalence of feeding and eating disorders among their children, compared with those without feeding and eating disorders. Mothers’ personalities should be assessed in children with feeding and eating disorders, especially when these factors seem likely
Cytogenetic and comorbidity profile of Down syndrome in Mansoura University Children's Hospital, Egypt
Background: Down syndrome (DS) is the most common chromosomal disorder.
It has three chromosomal patterns. Aim: To determine the cytogenetic
and comorbidity profiles of DS in the Genetic Unit of Mansoura
University Children′s Hospital, Mansoura, Egypt. Materials and
Methods: A retrospective analysis was performed on the case records of
712 cytogenetically diagnosed cases of DS at the Genetic Unit of
Mansoura University Children′s Hospital, Egypt, during a 10-year
period. Results: About 19% of the cases had one or more cardiac
anomalies and about 8% were hypothyroid. Nondisjunction was the most
common type of abnormality, followed by translocation and lastly
mosaic: 96.1, 3.1, and 0.8%, respectively. Hypothyroidism was
significantly more common in translocation and mosaic karyotypes than
in the nondisjunction karyotypes. First and second birth orders were
significantly higher in the translocation and mosaic groups than in the
nondisjunction group. Mothers are significantly older at the index
pregnancy in the nondisjunction group than in the other two groups. We
compared our findings with those of previous studies. Conclusion:
Knowing karyotype of DS will help in genetic counseling of the parents.
Wide-scale national community-based survey with DS registry could help
in estimating the size of the problem