Mona Farag - Academia.edu (original) (raw)

Papers by Mona Farag

The journal of obstetrics and gynaecology research, Jan 25, 2018

The aim of this study was to evaluate the association between vitamin B12 and its biomarkers and ... more The aim of this study was to evaluate the association between vitamin B12 and its biomarkers and the risk of neural tube defects. A total of 120 pregnant Egyptian women were included in the study. They were classified into two groups. Group A consisted of 50 women with neural tube defects in current pregnancy or with a history in previous pregnancies, and Group B consisted of 70 women with no history of neural tube defects in previous pregnancies or in the current pregnancy. All women were subjected to ultrasound anomaly scan and serum analysis of vitamin B12, homocysteine (Hcy), methyl malonic acid (MMA) and active vitamin B12 concentrations. Receiver operating characteristic curve analysis was used to determine the best cut-off values of vitamin B12. Serum levels of vitamin B12 were decreased in Neural tube defects (NTDs) cases compared to controls (2.736 vs 3.091 ng/mL; P = 0.0015), while Hcy and MMA concentrations were elevated (18.39 vs 13.95 μmol/L; P = 0.0008 and 263 vs 229.7...

Journal of Genetic Engineering and Biotechnology, 2011

The purpose of this study was to determine whether the levels of cystatin C and beta-2 microglobu... more The purpose of this study was to determine whether the levels of cystatin C and beta-2 microglobulin (B2M) are altered during the second trimester in the plasma of women who subsequently develop preeclampsia. Study design: We performed a case control study to compare the levels of cystatin C and B2M in women in whom preeclampsia ultimately developed (n = 30) and in pregnant women who remained normotensive throughout gestation (n = 60). The maternal plasma levels of cystatin C and B2M were measured by enzyme-linked immunosorbent assay. Blood samples were collected between 15 and 20 weeks' gestation for fetal aneuploidy screening and frozen at À20°C until assay after groups had been selected. Results: The median concentrations of cystatin C and B2M were significantly higher in those who subsequently developed preeclampsia when compared to those of normal pregnancy (median 668.6 ng/ml and 418.3 lg/ml vs 413.7 ng/ml and 321.2 lg/ml, respectively). Conclusions: In this study, the maternal plasma levels of cystatin C and B2M were significantly elevated in pregnant women who subsequently developed preeclampsia as compared with

Clinical laboratory, 2007

Folic acid insufficiency is a known risk factor for neural tube defects (NTDs), while the role of... more Folic acid insufficiency is a known risk factor for neural tube defects (NTDs), while the role of vitamin B12 is questionable. Thus, our purpose was to investigate whether low maternal serum vitamin B12 is associated with an increased risk of NTDs. Prenatal Diagnosis and Clinical Genetics Clinics, National Research Centre, in collaboration with the Radioisotope Department, Nuclear Research Centre, Cairo. The study groups included 36 women who were, or had been, pregnant with a NTD-affected fetus. The control groups comprised 35 healthy women with normal prior or current pregnancy and uncomplicated obstetric histories. Fasting plasma homocysteine, serum folate and cobalamin (vitamin B12) were determined. Odds ratio (OR) and 95% confidence intervals were calculated. The fasting homocysteine was significantly higher in the study groups as compared to the controls. The median serum folate concentrations were similar in cases and controls, while the median vitamin B12 concentrations were...

The purpose of this study was to determine whether the levels of cystatin C and beta-2 microglobu... more The purpose of this study was to determine whether the levels of cystatin C and beta-2 microglobulin (B2M) are altered during the second trimester in the plasma of women who subsequently develop preeclampsia. Study Design: We performed a case control study to compare the levels of cystatin C and B2M in women in whom preeclampsia ultimately developed (n=30) and pregnant women who remained normotensive throughout gestation (n=60). The maternal plasma levels of cystatin C and B2M were measured by enzyme-linked immunosorbant assay. Blood samples were collected between 15 and 20 weeks' gestation for fetal aneuploidy screening and frozen at 20 degrees C until assay after groups had been selected. Results: The median concentrations of cystatin C and B2M were significantly higher in those who subsequently developed preeclampsia when compared to normal pregnancy (median 668.6 ng/ml, 418.3 µg/ml vs 413.7 ng/ml and 321.2 µg/ml, respectively). Conclusions: In this study, the maternal plasma levels of cystatin C and B2M were significantly elevated in pregnant women who subsequently developed preeclampsia as compared with normotensive women. Alterations of these proteins antedate clinical symptoms and, thus, they may be useful for early identification of patients at risk of developing preeclampsia.

Egyptian Journal of Medical Human Genetics, 2015

Background: Mucopolysaccharidoses (MPS) are autosomal recessive disorders characterized by defici... more Background: Mucopolysaccharidoses (MPS) are autosomal recessive disorders characterized by deficiency of lysosomal enzymes which break down the glycosaminoglycans (GAGs) which results in widespread intra and extra-cellular accumulations of GAGs. Early initiation of treatment, before the onset of irreversible tissue damage, clearly provides a favorable disease outcome. Early detection might be afforded by analysis of amniotic fluid.

Human and Ecological Risk Assessment: An International Journal, 2011

Environmental pollution is one of the ever surging problems receiving careful attention in Egypt,... more Environmental pollution is one of the ever surging problems receiving careful attention in Egypt, as well as in the world. It has been evidenced that environmental pollutants play an important role in the manifestations of severe reproductive-associated disorders. Among them, an environmental pollutant, Cd, has contributed to several deleterious effects. Maternal exposure to Cd is associated with low birthweight and

American Journal of Medical Genetics Part A, 2015

The term fetal brain disruption sequence (FBDS) was coined to describe a number of sporadic condi... more The term fetal brain disruption sequence (FBDS) was coined to describe a number of sporadic conditions caused by numerous external disruptive events presenting with variable imaging findings. However, rare familial occurrences have been reported. We describe five patients (two sib pairs and one sporadic) with congenital severe microcephaly, seizures, and profound intellectual disability. Brain magnetic resonance imaging (MRI) revealed unique and uniform picture of underdeveloped cerebral hemispheres with increased extraxial CSF, abnormal gyral pattern (polymicrogyria-like lesions in two sibs and lissencephaly in the others), loss of white matter, dysplastic ventricles, hypogenesis of corpus callosum, and hypoplasia of the brainstem, but hypoplastic cerebellum in one. Fetal magnetic resonance imaging (FMRI) of two patients showed the same developmental brain malformations in utero. These imaging findings are in accordance with arrested brain development rather than disruption. Molecular analysis excluded mutations in potentially related genes such as NDE1, MKL2, OCLN, and JAM3. These unique clinical and imaging findings were described before among familial reports with FBDS. However, our patients represent a recognizable phenotype of developmental brain malformations, that is, apparently distinguishable from either familial microhydranencephaly or microlissencephaly that were collectively termed FBDS. Thus, the use of the umbrella term FBDS is no longer helpful. Accordingly, we propose the term fetal brain arrest to distinguish them from other familial patients diagnosed as FBDS. The presence of five affected patients from three unrelated consanguineous families suggests an autosomal-recessive mode of inheritance. The spectrum of fetal brain disruption sequence is reviewed. © 2015 Wiley Periodicals, Inc.

The journal of obstetrics and gynaecology research, Jan 25, 2018

The aim of this study was to evaluate the association between vitamin B12 and its biomarkers and ... more The aim of this study was to evaluate the association between vitamin B12 and its biomarkers and the risk of neural tube defects. A total of 120 pregnant Egyptian women were included in the study. They were classified into two groups. Group A consisted of 50 women with neural tube defects in current pregnancy or with a history in previous pregnancies, and Group B consisted of 70 women with no history of neural tube defects in previous pregnancies or in the current pregnancy. All women were subjected to ultrasound anomaly scan and serum analysis of vitamin B12, homocysteine (Hcy), methyl malonic acid (MMA) and active vitamin B12 concentrations. Receiver operating characteristic curve analysis was used to determine the best cut-off values of vitamin B12. Serum levels of vitamin B12 were decreased in Neural tube defects (NTDs) cases compared to controls (2.736 vs 3.091 ng/mL; P = 0.0015), while Hcy and MMA concentrations were elevated (18.39 vs 13.95 μmol/L; P = 0.0008 and 263 vs 229.7...

Journal of Genetic Engineering and Biotechnology, 2011

The purpose of this study was to determine whether the levels of cystatin C and beta-2 microglobu... more The purpose of this study was to determine whether the levels of cystatin C and beta-2 microglobulin (B2M) are altered during the second trimester in the plasma of women who subsequently develop preeclampsia. Study design: We performed a case control study to compare the levels of cystatin C and B2M in women in whom preeclampsia ultimately developed (n = 30) and in pregnant women who remained normotensive throughout gestation (n = 60). The maternal plasma levels of cystatin C and B2M were measured by enzyme-linked immunosorbent assay. Blood samples were collected between 15 and 20 weeks' gestation for fetal aneuploidy screening and frozen at À20°C until assay after groups had been selected. Results: The median concentrations of cystatin C and B2M were significantly higher in those who subsequently developed preeclampsia when compared to those of normal pregnancy (median 668.6 ng/ml and 418.3 lg/ml vs 413.7 ng/ml and 321.2 lg/ml, respectively). Conclusions: In this study, the maternal plasma levels of cystatin C and B2M were significantly elevated in pregnant women who subsequently developed preeclampsia as compared with

Clinical laboratory, 2007

Folic acid insufficiency is a known risk factor for neural tube defects (NTDs), while the role of... more Folic acid insufficiency is a known risk factor for neural tube defects (NTDs), while the role of vitamin B12 is questionable. Thus, our purpose was to investigate whether low maternal serum vitamin B12 is associated with an increased risk of NTDs. Prenatal Diagnosis and Clinical Genetics Clinics, National Research Centre, in collaboration with the Radioisotope Department, Nuclear Research Centre, Cairo. The study groups included 36 women who were, or had been, pregnant with a NTD-affected fetus. The control groups comprised 35 healthy women with normal prior or current pregnancy and uncomplicated obstetric histories. Fasting plasma homocysteine, serum folate and cobalamin (vitamin B12) were determined. Odds ratio (OR) and 95% confidence intervals were calculated. The fasting homocysteine was significantly higher in the study groups as compared to the controls. The median serum folate concentrations were similar in cases and controls, while the median vitamin B12 concentrations were...

The purpose of this study was to determine whether the levels of cystatin C and beta-2 microglobu... more The purpose of this study was to determine whether the levels of cystatin C and beta-2 microglobulin (B2M) are altered during the second trimester in the plasma of women who subsequently develop preeclampsia. Study Design: We performed a case control study to compare the levels of cystatin C and B2M in women in whom preeclampsia ultimately developed (n=30) and pregnant women who remained normotensive throughout gestation (n=60). The maternal plasma levels of cystatin C and B2M were measured by enzyme-linked immunosorbant assay. Blood samples were collected between 15 and 20 weeks' gestation for fetal aneuploidy screening and frozen at 20 degrees C until assay after groups had been selected. Results: The median concentrations of cystatin C and B2M were significantly higher in those who subsequently developed preeclampsia when compared to normal pregnancy (median 668.6 ng/ml, 418.3 µg/ml vs 413.7 ng/ml and 321.2 µg/ml, respectively). Conclusions: In this study, the maternal plasma levels of cystatin C and B2M were significantly elevated in pregnant women who subsequently developed preeclampsia as compared with normotensive women. Alterations of these proteins antedate clinical symptoms and, thus, they may be useful for early identification of patients at risk of developing preeclampsia.

Egyptian Journal of Medical Human Genetics, 2015

Background: Mucopolysaccharidoses (MPS) are autosomal recessive disorders characterized by defici... more Background: Mucopolysaccharidoses (MPS) are autosomal recessive disorders characterized by deficiency of lysosomal enzymes which break down the glycosaminoglycans (GAGs) which results in widespread intra and extra-cellular accumulations of GAGs. Early initiation of treatment, before the onset of irreversible tissue damage, clearly provides a favorable disease outcome. Early detection might be afforded by analysis of amniotic fluid.

Human and Ecological Risk Assessment: An International Journal, 2011

Environmental pollution is one of the ever surging problems receiving careful attention in Egypt,... more Environmental pollution is one of the ever surging problems receiving careful attention in Egypt, as well as in the world. It has been evidenced that environmental pollutants play an important role in the manifestations of severe reproductive-associated disorders. Among them, an environmental pollutant, Cd, has contributed to several deleterious effects. Maternal exposure to Cd is associated with low birthweight and

American Journal of Medical Genetics Part A, 2015

The term fetal brain disruption sequence (FBDS) was coined to describe a number of sporadic condi... more The term fetal brain disruption sequence (FBDS) was coined to describe a number of sporadic conditions caused by numerous external disruptive events presenting with variable imaging findings. However, rare familial occurrences have been reported. We describe five patients (two sib pairs and one sporadic) with congenital severe microcephaly, seizures, and profound intellectual disability. Brain magnetic resonance imaging (MRI) revealed unique and uniform picture of underdeveloped cerebral hemispheres with increased extraxial CSF, abnormal gyral pattern (polymicrogyria-like lesions in two sibs and lissencephaly in the others), loss of white matter, dysplastic ventricles, hypogenesis of corpus callosum, and hypoplasia of the brainstem, but hypoplastic cerebellum in one. Fetal magnetic resonance imaging (FMRI) of two patients showed the same developmental brain malformations in utero. These imaging findings are in accordance with arrested brain development rather than disruption. Molecular analysis excluded mutations in potentially related genes such as NDE1, MKL2, OCLN, and JAM3. These unique clinical and imaging findings were described before among familial reports with FBDS. However, our patients represent a recognizable phenotype of developmental brain malformations, that is, apparently distinguishable from either familial microhydranencephaly or microlissencephaly that were collectively termed FBDS. Thus, the use of the umbrella term FBDS is no longer helpful. Accordingly, we propose the term fetal brain arrest to distinguish them from other familial patients diagnosed as FBDS. The presence of five affected patients from three unrelated consanguineous families suggests an autosomal-recessive mode of inheritance. The spectrum of fetal brain disruption sequence is reviewed. © 2015 Wiley Periodicals, Inc.