Iman Mandour - Academia.edu (original) (raw)
Papers by Iman Mandour
Egyptian Journal of Bronchology, Jul 21, 2023
Background Coronavirus disease 2019 can cause severe inflammation and damage to the lungs. Vitami... more Background Coronavirus disease 2019 can cause severe inflammation and damage to the lungs. Vitamins A and E are essential in the enhancement of immunity and they tend to decrease in cases with inflammation. Determination of serum levels of vitamins A and E in COVID-19 patients was the aim of the study. Methods This case-control study was carried out on 30 ICU-admitted SARS-CoV-2-infected individuals (group A), 30 ward-admitted SARS-CoV-2-infected individuals (group B) and 30 healthy controls (group C). High-performance liquid chromatography was used to measure vitamin A and E levels. Results Median levels of vitamin A in group A [0.16 (0.08-0.23) µg/ml] were significantly lower than those in group B [0.4 (0.15-0.65) µg/ml] and in group C [0.81 (0.70-1.16) µg/ml] with P value < 0.001, while there was no significant difference between groups concerning vitamin E levels (P value = 0.535). Vitamin A deficiency showed significant correlation with lower hemoglobin levels, lower platelet counts, higher total leucocyte counts, higher C-reactive protein levels, and higher D-dimer levels. ROC curve construction showed that vitamin A level with cut off < 0.65 µg/ml increases risk of acute respiratory distress syndrome (ARDS) development with sensitivity 90% and specificity 83.3%. Logistic regression analysis showed that cases with vitamin A levels < 0.65 µg/ml were more prone to develop ARDS (OR = 0.003 [0.000-0.036] P < 0.001). Conclusion Levels of vitamin A were reduced in COVID-19 patients particularly in ICU-admitted cases. This ensures the association of decreased vitamin A with disease morbidity and the importance of vitamin A supplementation as part of disease management. Trial registration Clinicaltrial.gov, NCT05946499. Registered 12 July 2023-Retrospectively registered.https:// regis ter. clini caltr ials. gov/ prs/ app/ action/ Selec tProt ocol? sid= S000D GLS& selec tacti on= Edit& uid= U0007 0DC& ts= 2& cx= gieusm.
Journal of Bioscience and Applied Research, Feb 13, 2023
Aim: Multiple sclerosis (MS) is an autoimmune disease with a controversial etiology. Both genetic... more Aim: Multiple sclerosis (MS) is an autoimmune disease with a controversial etiology. Both genetic and environmental factors are thought to be involved in the risk of developing the disease. The purpose of this study was to assess the association of the Vitamin D receptor (VDR) BsmI variant with MS and to investigate the interaction of this variant with vitamin D levels. Method: 100 subjects were recruited for this study. Fifty patients were diagnosed with MS and 50 were healthy individuals. BsmI was genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analyses in both groups and serum 25hydroxyvitamin D [25(OH)D] levels were determined in MS patients by high-performance liquid chromatography (HPLC). Results: The distribution of the genotype of VDR polymorphism BsmI did not differ significantly between MS patients and healthy controls. The G allele of BsmI was a statistically significant higher percentage in MS patients (p-value 0.045). There is no statistically significant difference in the level of 25(OH)D between MS patients and the control group. Conclusions: The study findings suggest that the VDR gene variant BsmI G allele may increase the risk of the development of MS.
Molecular Diagnosis & Therapy, Jan 20, 2016
The diagnosis of preeclampsia (PE) is based on the measurement of maternal blood pressure and pro... more The diagnosis of preeclampsia (PE) is based on the measurement of maternal blood pressure and proteinuria; however, these parameters are not used in the prediction of adverse fetal outcomes that may occur due to fetal stress. The plasma concentrations of total cell-free DNA (cf-DNA), cell-free fetal DNA (cff-DNA) and soluble endoglin (sEng) are higher in women with established PE than in normotensive controls, and the increase is particularly marked in those with severe PE. We aimed to evaluate the levels of cf-DNA, cff-DNA and sEng in pregnant Egyptian women with PE in order to assess the severity of the disease and to detect their potential utility in the future prediction of time of delivery and adverse fetal outcome. The study included 107 pregnant females with established PE during their third trimester (51 with mild PE and 56 with severe PE), together with 93 normotensive pregnant women. Absolute quantitation of the hemoglobin subunit beta (HBB) and testis-specific protein, Y-linked 1 (TSPY1) genes for the measurement of cf-DNA and cff-DNA in maternal blood, respectively, was carried out using real-time polymerase chain reaction (PCR) together with the measurement of serum sEng using ELISA. An almost twofold increase in cf-DNA and cff-DNA was detected in the severe PE group over the mild group, and both were significantly different from the control group. Significantly higher levels of cf-DNA, cff-DNA and sEng, with variable magnitudes, were detected in the preterm labor and unfavorable fetal outcome groups compared with the term and favorable outcome groups, respectively. The three markers were almost equivalent with regard to the area under the curve for predicting adverse fetal outcome in the severe PE group. The same was also true for cf-DNA and cff-DNA within the mild PE group. Incorporation of cf-DNA, cff-DNA and sEng into the prenatal care service should be considered as a serious addition for the screening and detection of adverse pregnancy outcomes in view of their significant elevations in cases of preeclamptic women whose babies ultimately suffered a poor outcome.
Human Immunology, Dec 1, 2016
Studying predictors of response to therapy for hepatitis C virus (HCV) infection in children may ... more Studying predictors of response to therapy for hepatitis C virus (HCV) infection in children may help avoid the inappropriate use of currently available costly therapy associated with numerous adverse effects. We tested the hypothesis that inheritance of single nucleotide polymorphisms (SNPs) of the interleukin-10 (IL-10) promoter gene might influence response to HCV treatment. The impact of SNPs, -1082 G/A and -592 C/A, in the promoter region of IL-10 gene, on response to HCV therapy was assessed in a cohort of 40 children treated with a combination of pegylated interferon (Peg-IFN) α2b and ribavirin. Sustained virological response was achieved in 48.7%. High viral load was associated with non-response to therapy. There was no association between histopathological degree of inflammation or fibrosis and response to therapy. There was no direct statistically significant association between polymorphisms in the IL-10 gene (-1082G/A and -592 C/A) as regards inflammation or response to therapy in children. As for the SNP -592 C/A; there was a statistically significant association with the score of fibrosis (P&amp;amp;amp;amp;amp;lt;0.004), concluding that the A allele was protective from moderate and severe fibrosis. Meanwhile the SNP -1082G/A did not show any association with the fibrosis score. We could not associate response to therapy for HCV with IL-10 polymorphisms -1082 G/A and -592 C/A. For the SNP -592 C/A, the A allele protected from moderate and severe fibrosis.
Endocrine Abstracts, May 8, 2018
Early Human Development, Oct 1, 2021
OBJECTIVE Conventional phototherapy converts unconjugated bilirubin to its oxidation products and... more OBJECTIVE Conventional phototherapy converts unconjugated bilirubin to its oxidation products and consequently causes oxidative stress with lipid peroxidation products. New devices that deliver intensive phototherapy are efficacious in treating severe hyperbilirubinemia and minimizing the need for exchange transfusions. However, the oxidative stress status when using these devices has not been explored. Therefore, we aimed to study the impact of using intensive phototherapy on the oxidant-antioxidant status in severely jaundiced neonates. STUDY DESIGN This prospective case-control study included term newborns admitted with severe hyperbilirubinemia managed with intensive phototherapy. Baseline oxidant-antioxidant concentrations were compared to healthy controls and re-measured after 8 h of intensive phototherapy exposure. RESULTS The study included 40 cases with severe jaundice and 40 non-jaundiced apparently normal controls. Total serum bilirubin at enrollment was 23.4 ± 4.2 mg/dl that significantly decreased after 8 h of therapy to 15.4 ± 3.4 mg/dl (p < 0.001). The decline of total serum bilirubin was 1 mg/dl/h. Bilirubin: albumin ratio decreased from 3.45 ± 0.28 to 2.7 ± 0.21 (p < 0.001). Total antioxidant capacity (TAC), superoxide dismutase (SOD), malondialdehyde (MDA), and total oxidative stress (TOS) concentrations were lower in cases (p < 0.001, p < 0.001, p = 0.049, and p < 0.001 respectively) compared to controls. Following 8 h of intensive phototherapy, further decline of TAC (p = 0.016) with increased concentrations of TOS (p = 0.005) were noted. SOD and MDA did not change. CONCLUSIONS Although efficacious, intensive phototherapy was associated with increased oxidative stress. The clinical correlates for harms related to such oxidative stress need further studying.
Biomedical and Pharmacology Journal, Jun 28, 2018
Transcription factor 7-like 2 (TCF7L2) variants are known risk factors of type 2 diabetes (T2DM).... more Transcription factor 7-like 2 (TCF7L2) variants are known risk factors of type 2 diabetes (T2DM).However, this association is not consistent among different populations. The current study aimed at investigating the relationship between rs 7903146, rs 12255372 variants of TCF7L2 and susceptibility to T2DM and different metabolic parameters in a cohort of Egyptian type 2 diabetic patients. This case control study included 60 diabetic patients and 60 matched unrelated healthy controls. Genotyping was performed by using Real Time-PCR. The frequency of genotypes, alleles, anthropometric measures, glycemic indices, HOMA-IR and lipid profile were evaluated in patients and control. Regarding rs 7903146, TT genotype was more frequent in healthy controls (43.3%) than diabetic patients (20%) (OR = 0.291, 95% CI = 0.108-0.788, P = 0.015). T allele was more frequent in healthy control (61.7%) than diabetic patients (44.2%) and it was associated with lower risk of diabetes (OR = 0.492, 95% CI = 0.294-0.823, P = 0.007). However, there was no significant difference between patients with CC, CT and TT genotypes of rs7903146 regarding HbA1C (p=0.549), HOMA-IR (p=0.359), total cholesterol (p=0.482) In contrast, T allele of rs12255372 had no significant relation to diabetes risk (OR = 0.602, 95% CI = 0.361-1.005, P = 0.052). There was no statistically significant difference of frequency of any rs12255372 genotypes between cases and controls. In addition, patients with GG,GT, TT genotypes of rs12255372 had no significant difference regarding HbA1C (p=0.393), HOMA-IR (p=0.985), total cholesterol (p=0.368). The study confirmed the association of TCF7L2 (rs 7903146) and T2DM, while failed to detect any association between TCF7L2 (rs 12255372) and susceptibility to T2DM. No significant difference in respect to metabolic parameters between different genotypes of rs7930146 and rs12255372.
In Egypt women are considered incomplete and dirty if their genitalia are left intact and unmutil... more In Egypt women are considered incomplete and dirty if their genitalia are left intact and unmutilated. The 1995 Demographic Health Survey in Egypt indicates that 97% of women in the country have had their genitalia mutilated. The prevalence of such mutilation is closer to 90% among women with a secondary or higher academic degree and among women living in the frontier regions of the country. The operation in Egypt usually involves the partial or full removal of the clitoris and the labia minora. However more radical procedures involve the removal of the clitoris the labia majora and the labia minora. The vagina is then sewed shut except for a small hole left for the passage of urine. This latter procedure infibulation is technically illegal in Egypt. Regardless of the severity of the operation female genital mutilation (FGM) often results in chronic pain especially during urination and intercourse and can lead to incontinence and even death. Egyptians are divided over the practice. While womens rights organizations have been conducting extensive media campaigns and are working closely with families to help end the practice change is coming only slowly. The strong social pressure to undergo FGM makes it hard for individual girls and women to oppose it.
Egyptian Journal of Medical Research
Frontiers in Genetics, 2022
Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic divers... more Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to reduce mortality and morbidity. Proper early sex identification reduces emotional, social, and psychological stress.Aim: Detection of a spectrum of aberrations in the CYP21A2 gene, including copy number variations, gene conversion, chimeric genes, and point variations.Methods: The CYP21A2 gene was screened using MLPA assay in 112 unrelated Egyptian children with 21-OHD CAH (33 males and 79 females).Results: In the studied group, 79.5% were diagnosed within the first month of life. 46.8% of the genetic females were misdiagnosed as males. Among the copy number variation results, large deletions in 15.4% and three types of chimeric genes in 9% (CH-1, CH-7, and CAH-X CH-1) were detected. Reg...
Journal of Hepatology, 2012
Median time to systemic treatment for unresectable disease was 111 days in North America, 127 in ... more Median time to systemic treatment for unresectable disease was 111 days in North America, 127 in Europe, and 41 in Asia. Approximately one third of patients across regions received systemic therapy as initial treatment; additional recorded treatments in this cohort included transplantation/resection (14-26%) and locoregional therapy (46-63%). Sorafenib was received by~90% of systemically treated patients in North America and Europe, and 58% in Asia. These results will be updated with second interim data that will be available in March 2012. Conclusions: This interim analysis of the HCC BRIDGE study shows variations in the regional use of systemic treatments in patients with HCC, some of which may be related to differences in patient access to specific therapies. Insights derived from these data may prove helpful in informing efforts to improve the future management of patients with HCC.
Advances in Respiratory Medicine, 2020
Introduction: Genome-wide association studies have identified that genetic polymorphisms in the t... more Introduction: Genome-wide association studies have identified that genetic polymorphisms in the telomerase reverse transcrip-tase (TERT) and cleft lip and palate transmembrane 1-like (CLPTM1L) genes may play important roles in the development of lung cancer in never smokers. Material and methods: This study was aiming to evaluate the associations between the risk of lung cancer in never smokers and single nucleotide polymorphisms in these genes by Real-Time Taqman assay, in forty lung cancer patients and forty apparently healthy age-matched controls selected from the chest department, Kasr Al-Ainy hospital from June 2018 to January 2019. Results: Adenocarcinoma was the most common histopathological subtype of lung cancer in the study patients. Also, the prevalence of females having adenocarcinoma was more common than males. The heterozygous form of the CLPTM1L occurred more frequently in the subjects aged above 46 years (P = 0.019). There was a significant association between (rs 27...
This work was designed to assess the serum zinc and copper levels in pregnant Egyptian ladies at ... more This work was designed to assess the serum zinc and copper levels in pregnant Egyptian ladies at delivery and in their corresponding offspring as well as to study the effects of these elements on intrauterine fetal growth. Thirty full term small for gestational age neonates (SGA) were studied together with their mothers at delivery. They were compared to thirty eight full term appropriate for gestational age (AGA) neonates as well as their mothers. Mothers of both groups of studied neonates were compared to 20 non pregnant ladies as regards serum zinc and copper level. All cases and controls were subjected to detailed history taking from mothers and all deliveries were attended. All babies were examined to exclude acute and chronic complications. Anthropometric measurements were taken at birth. Laboratory investigations including assessment of serum zinc and copper levels by atomic absorption spectrophotometry were performed. The results proved that serum zinc levels were significan...
Human Immunology, 2016
Studying predictors of response to therapy for hepatitis C virus (HCV) infection in children may ... more Studying predictors of response to therapy for hepatitis C virus (HCV) infection in children may help avoid the inappropriate use of currently available costly therapy associated with numerous adverse effects. We tested the hypothesis that inheritance of single nucleotide polymorphisms (SNPs) of the interleukin-10 (IL-10) promoter gene might influence response to HCV treatment. The impact of SNPs, -1082 G/A and -592 C/A, in the promoter region of IL-10 gene, on response to HCV therapy was assessed in a cohort of 40 children treated with a combination of pegylated interferon (Peg-IFN) α2b and ribavirin. Sustained virological response was achieved in 48.7%. High viral load was associated with non-response to therapy. There was no association between histopathological degree of inflammation or fibrosis and response to therapy. There was no direct statistically significant association between polymorphisms in the IL-10 gene (-1082G/A and -592 C/A) as regards inflammation or response to therapy in children. As for the SNP -592 C/A; there was a statistically significant association with the score of fibrosis (P&amp;amp;amp;amp;amp;lt;0.004), concluding that the A allele was protective from moderate and severe fibrosis. Meanwhile the SNP -1082G/A did not show any association with the fibrosis score. We could not associate response to therapy for HCV with IL-10 polymorphisms -1082 G/A and -592 C/A. For the SNP -592 C/A, the A allele protected from moderate and severe fibrosis.
Journal of Medical Screening, 2016
ObjectivesTo estimate the burden of metabolic disorders detectable by tandem mass spectrometry in... more ObjectivesTo estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme at Cairo University Children's Hospital in 2008, and examining the results of 3,900 clinically at-risk children, investigated at Cairo University Children’s Hospital for the same disorders over the past 7 years using the same technology.MethodsDried blood spots of 25,276 healthy newborns from three governorates in Upper, Middle, and Lower Egypt were screened, to give a representative sample of the Egyptian newborn population. Based on the pilot study outcomes and the results of clinically suspected children, we estimated the total birth prevalence of tandem mass spectrometry detectable metabolic disorders, and the relative frequency of several individual disorders.ResultsAmong the healthy newborns, 13 metabolic disorder cases (five phenylketonuria [1:5,000], two methylmalonic acidemia, and isovaleric acidemia [1:12,500], on...
Acta Endocrinologica (Bucharest), 2012
ABSTRACT Study Objective. To elucidate the association between POF and inhibin alpha (inhibin alp... more ABSTRACT Study Objective. To elucidate the association between POF and inhibin alpha (inhibin alpha) G769A gene mutation and BMP15 variants in patients with POF. Design. Prospective analytic study. Setting: University hospital. Patients. Forty subjects were included, twenty patients with premature ovarian failure, of them 12 presented with primary amenorrhea and 8 with secondary amenorrhea, and twenty control subjects. Genetic analysis for inhibin alpha gene was done by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism analysis (PCR- RFLP) and Bone Morphogenetic protein 15 (BMP15) by PCR- sequencing analysis. Measurements and Results. Regarding the inhibin alpha G769A gene mutation, heterozygous form was found in 3 patients of the primary amenorrhea group, while none of the secondary amenorrhea group or the control group displayed this mutation. A statistically significant prevalence of the G769A mutation among Egyptian women with POF presenting with primary amenorrhea was found. Mutational analysis of BMP15 gene performed by sequencing analysis showed no mutation among the patient or control group. Conclusion. In this study we concluded that inhibin alpha G769A gene mutation is more frequent among cases of POF presenting with primary amenorrhea and its presence conferred higher risk to development of POF. Variations of BMP15 gene were not encountered in the subjects of this study.
Abs tract: B a c kg ro u n d : Org an ic acid d is o rd ers are a g ro u p o f d is o rd ers ch a... more Abs tract: B a c kg ro u n d : Org an ic acid d is o rd ers are a g ro u p o f d is o rd ers ch aracterized b y th e excretio n o f non-amino organic acids in urine. Expanded newborn s c re ening methods by tandem mas s s pectrometry (MS/M S) can detect organic acide mias early in infancy with a better outcome when diagnos ed in the first ten days of life. Aim: This study aims at rev iewing the clinical, biochemical and neuroradiological data of patients diagnosed as organic acidemias and to highlight the importance of including organic acidemias in Newborn screening programs using MS/MS. Methods: Eight hundred p atients attending the neurometabolic clinic at Cairo Un iv e rsity Children Hos pital (CUCH) s creened for inborn errors of metabolis m (IEM) by M S/M S. Organic acid pro file in urine, by gas chromatography mas s s pectrometry (GC-M S/M S), was performed for selected cas es. Res ults : Nineteen patie n t s out the 800 cas es were diagnosed as organic acidemias (1/42).Three cas es (15.8%) were diagnosed as methyl malonic acidemias (MMA), 3 (15.8%) as â-ketothiolas e deficiency (BKT), 2 (10.5%) as 3-me t h y lcrotonylglycinuria (MCG), 3 (15.8%%)as biotinidase deficiency , 2 (10.5%) as Canavan disease, one patient (5.3%)for each of the following: glutaric aciduria type I, D-2 hydroxyglutaric a c id u ria ,is o v a le ric a c id u ria (IVA), as argininos uccinic aciduria (ASA),3-methyl glutaconic aciduria and propionic ac id e mia (P A). Dev elo p men tal delay was a d o minan t s y mp to m bein g p res en t in 16/19 (8 4 .2%) fo llowed b y metab o lic acidos is in 15/19(78.9%), vomit in g in 12(63.2%), encephalopathy with dis turbed cons cious level in 11 (57.8%), seizures in 8 (42%), overwhelming illness [encephalopathy, res p iratory distress, seizures, septicemia, persistent vomitings] in 8 (42%) namely in MMA, PA and BKT and diarrhea in 6(31%)cases. Central nervous system abnormalities in cluding cranial nerve affection in 8(42%) extrapyramidal man ifestations namely dystonia in 4 (21%), ataxia in 2(10.5%), long tract signs in 7(36.8%), h y p o to n ia in 11 (57.8%) p atien ts an d d y s mo rp h is m in 11 cas es (57.8%). Co n clu s io n : Screen in g fo r o rg an ic acidopathies by MS/MS using dried blood spot technique is a rapid and efficient method in detecting cases with suspected organic acidemias, requiring confirmatory tests by GC-MS. Including organic acidopathies in newborn screen in g wo u ld help in rapid and properly timed therapeutic intervention to prevent devas tating neurological outcomes. However, confirmatory tes ts by GC-M S are mandatory particularly for clinically s u s p ected cas es with n o rmal acy l carn itin e p ro file
Journal of the Turkish German Gynecological Association, 2009
To detect the serum levels of folate and B12 in both preclamptic and normotensive pregnant women ... more To detect the serum levels of folate and B12 in both preclamptic and normotensive pregnant women and to determine whether there is any relation between these levels with the uterine and umbilical artery Doppler indices as well as the pregnancy outcome. This case controlled study comprised 79 pregnant patients with preeclampsia and 113 healthy, normotensive pregnant women with singleton pregnancies at gestational ages ranging from 34-40 weeks. Patients were not obese (BMI<30) and did not suffer from chronic hypertension, chronic renal or liver disease nor diabetes mellitus. Serum folate and B12 were detected in all cases. They were also subjected to a Doppler study of both the uterine and umbilical arteries. Serum folate and B12 blood levels as well as the Doppler study indices (RI and PI) were compared in both groups. The serum folate level was significantly lower in preeclamptic patients than normal pregnant women (p<0.001). It was significantly correlated to uterine artery D...
The Indian Journal of Pediatrics, 2013
Objective To investigate the longitudinal changes in amino acid (AA) and acylcarnitine (AC) profi... more Objective To investigate the longitudinal changes in amino acid (AA) and acylcarnitine (AC) profiles of preterm neonates over the first 2 wk of life, and to detect any significant deviation from full term values that requires change of cutoff values used for detection of metabolic disorders in preterm neonates. Methods This observational analytical longitudinal study was conducted on 131 premature neonates (gestational age ranged from 27 to 36 wk) and 143 healthy full-term neonates. Dried blood spots were taken on the 5th and 14th postnatal day from the premature neonates and on day 5 from full term neonates for neonatal screening. Samples were analyzed for AA and AC using tandem mass spectrometer. Results Most AA significantly decreased on day 14 compared to day 5 among preterm neonates (p<0.05). The combined values of total carnitine (TC), total acylcarnitine (tAC) and short-chain acylcarnitines on day 5 among preterm neonates were statistically significantly higher compared to the day 14 sample (p 0.0001), whereas no statistically significant difference was found regarding the values of medium-, long-chain acylcarnitines, tAC/FC, and FC/TC (p>0.05). The levels of AA of preterm neonates were statistically significantly higher than that of the controls (p<0.05). The values of TC, tAC, short-, medium-and long-chain acylcarnitines, were significantly higher than those of the controls (p < 0.05). The reference ranges for preterm neonates were determined using the 1st and 99.9th percentiles. Conclusions AA and AC showed an age-related distribution of their concentrations. This underlines the importance of using appropriate reference values when working with a prematurely born population.
Hormone Research in Paediatrics, 2013
Background/Aims: Primary insulin-like growth factor-1 (IGF-1) deficiency (IGFD) is defined by low... more Background/Aims: Primary insulin-like growth factor-1 (IGF-1) deficiency (IGFD) is defined by low levels of IGF-1 without growth hormone (GH) deficiency and absence of secondary causes. The aim of this study was to evaluate IGF-1 in Egyptian children with idiopathic short stature (ISS) and describe patients with IGFD. Methods: This cross-sectional study included 50 children with ISS following up at the Diabetes Endocrine and Metabolism Pediatric Unit at Cairo University Pediatric Hospital. Children were included based on the following criteria: (1) short stature with current height standard deviation score (SDS) ≤-2.5; (2) age between 2 and 9 years in boys and 2 and 8 years in girls, and (3) prepubertal status. Exclusion criteria were: (1) identified cause of short stature and (2) pubertal children. IGF-1-deficient children were defined as children without GH deficiency and with IGF-1 levels below the 2.5th percentile. Results: Among 50 children with ISS, 14 (28%) patients had low I...
Egyptian Journal of Bronchology, Jul 21, 2023
Background Coronavirus disease 2019 can cause severe inflammation and damage to the lungs. Vitami... more Background Coronavirus disease 2019 can cause severe inflammation and damage to the lungs. Vitamins A and E are essential in the enhancement of immunity and they tend to decrease in cases with inflammation. Determination of serum levels of vitamins A and E in COVID-19 patients was the aim of the study. Methods This case-control study was carried out on 30 ICU-admitted SARS-CoV-2-infected individuals (group A), 30 ward-admitted SARS-CoV-2-infected individuals (group B) and 30 healthy controls (group C). High-performance liquid chromatography was used to measure vitamin A and E levels. Results Median levels of vitamin A in group A [0.16 (0.08-0.23) µg/ml] were significantly lower than those in group B [0.4 (0.15-0.65) µg/ml] and in group C [0.81 (0.70-1.16) µg/ml] with P value < 0.001, while there was no significant difference between groups concerning vitamin E levels (P value = 0.535). Vitamin A deficiency showed significant correlation with lower hemoglobin levels, lower platelet counts, higher total leucocyte counts, higher C-reactive protein levels, and higher D-dimer levels. ROC curve construction showed that vitamin A level with cut off < 0.65 µg/ml increases risk of acute respiratory distress syndrome (ARDS) development with sensitivity 90% and specificity 83.3%. Logistic regression analysis showed that cases with vitamin A levels < 0.65 µg/ml were more prone to develop ARDS (OR = 0.003 [0.000-0.036] P < 0.001). Conclusion Levels of vitamin A were reduced in COVID-19 patients particularly in ICU-admitted cases. This ensures the association of decreased vitamin A with disease morbidity and the importance of vitamin A supplementation as part of disease management. Trial registration Clinicaltrial.gov, NCT05946499. Registered 12 July 2023-Retrospectively registered.https:// regis ter. clini caltr ials. gov/ prs/ app/ action/ Selec tProt ocol? sid= S000D GLS& selec tacti on= Edit& uid= U0007 0DC& ts= 2& cx= gieusm.
Journal of Bioscience and Applied Research, Feb 13, 2023
Aim: Multiple sclerosis (MS) is an autoimmune disease with a controversial etiology. Both genetic... more Aim: Multiple sclerosis (MS) is an autoimmune disease with a controversial etiology. Both genetic and environmental factors are thought to be involved in the risk of developing the disease. The purpose of this study was to assess the association of the Vitamin D receptor (VDR) BsmI variant with MS and to investigate the interaction of this variant with vitamin D levels. Method: 100 subjects were recruited for this study. Fifty patients were diagnosed with MS and 50 were healthy individuals. BsmI was genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analyses in both groups and serum 25hydroxyvitamin D [25(OH)D] levels were determined in MS patients by high-performance liquid chromatography (HPLC). Results: The distribution of the genotype of VDR polymorphism BsmI did not differ significantly between MS patients and healthy controls. The G allele of BsmI was a statistically significant higher percentage in MS patients (p-value 0.045). There is no statistically significant difference in the level of 25(OH)D between MS patients and the control group. Conclusions: The study findings suggest that the VDR gene variant BsmI G allele may increase the risk of the development of MS.
Molecular Diagnosis & Therapy, Jan 20, 2016
The diagnosis of preeclampsia (PE) is based on the measurement of maternal blood pressure and pro... more The diagnosis of preeclampsia (PE) is based on the measurement of maternal blood pressure and proteinuria; however, these parameters are not used in the prediction of adverse fetal outcomes that may occur due to fetal stress. The plasma concentrations of total cell-free DNA (cf-DNA), cell-free fetal DNA (cff-DNA) and soluble endoglin (sEng) are higher in women with established PE than in normotensive controls, and the increase is particularly marked in those with severe PE. We aimed to evaluate the levels of cf-DNA, cff-DNA and sEng in pregnant Egyptian women with PE in order to assess the severity of the disease and to detect their potential utility in the future prediction of time of delivery and adverse fetal outcome. The study included 107 pregnant females with established PE during their third trimester (51 with mild PE and 56 with severe PE), together with 93 normotensive pregnant women. Absolute quantitation of the hemoglobin subunit beta (HBB) and testis-specific protein, Y-linked 1 (TSPY1) genes for the measurement of cf-DNA and cff-DNA in maternal blood, respectively, was carried out using real-time polymerase chain reaction (PCR) together with the measurement of serum sEng using ELISA. An almost twofold increase in cf-DNA and cff-DNA was detected in the severe PE group over the mild group, and both were significantly different from the control group. Significantly higher levels of cf-DNA, cff-DNA and sEng, with variable magnitudes, were detected in the preterm labor and unfavorable fetal outcome groups compared with the term and favorable outcome groups, respectively. The three markers were almost equivalent with regard to the area under the curve for predicting adverse fetal outcome in the severe PE group. The same was also true for cf-DNA and cff-DNA within the mild PE group. Incorporation of cf-DNA, cff-DNA and sEng into the prenatal care service should be considered as a serious addition for the screening and detection of adverse pregnancy outcomes in view of their significant elevations in cases of preeclamptic women whose babies ultimately suffered a poor outcome.
Human Immunology, Dec 1, 2016
Studying predictors of response to therapy for hepatitis C virus (HCV) infection in children may ... more Studying predictors of response to therapy for hepatitis C virus (HCV) infection in children may help avoid the inappropriate use of currently available costly therapy associated with numerous adverse effects. We tested the hypothesis that inheritance of single nucleotide polymorphisms (SNPs) of the interleukin-10 (IL-10) promoter gene might influence response to HCV treatment. The impact of SNPs, -1082 G/A and -592 C/A, in the promoter region of IL-10 gene, on response to HCV therapy was assessed in a cohort of 40 children treated with a combination of pegylated interferon (Peg-IFN) α2b and ribavirin. Sustained virological response was achieved in 48.7%. High viral load was associated with non-response to therapy. There was no association between histopathological degree of inflammation or fibrosis and response to therapy. There was no direct statistically significant association between polymorphisms in the IL-10 gene (-1082G/A and -592 C/A) as regards inflammation or response to therapy in children. As for the SNP -592 C/A; there was a statistically significant association with the score of fibrosis (P&amp;amp;amp;amp;amp;lt;0.004), concluding that the A allele was protective from moderate and severe fibrosis. Meanwhile the SNP -1082G/A did not show any association with the fibrosis score. We could not associate response to therapy for HCV with IL-10 polymorphisms -1082 G/A and -592 C/A. For the SNP -592 C/A, the A allele protected from moderate and severe fibrosis.
Endocrine Abstracts, May 8, 2018
Early Human Development, Oct 1, 2021
OBJECTIVE Conventional phototherapy converts unconjugated bilirubin to its oxidation products and... more OBJECTIVE Conventional phototherapy converts unconjugated bilirubin to its oxidation products and consequently causes oxidative stress with lipid peroxidation products. New devices that deliver intensive phototherapy are efficacious in treating severe hyperbilirubinemia and minimizing the need for exchange transfusions. However, the oxidative stress status when using these devices has not been explored. Therefore, we aimed to study the impact of using intensive phototherapy on the oxidant-antioxidant status in severely jaundiced neonates. STUDY DESIGN This prospective case-control study included term newborns admitted with severe hyperbilirubinemia managed with intensive phototherapy. Baseline oxidant-antioxidant concentrations were compared to healthy controls and re-measured after 8 h of intensive phototherapy exposure. RESULTS The study included 40 cases with severe jaundice and 40 non-jaundiced apparently normal controls. Total serum bilirubin at enrollment was 23.4 ± 4.2 mg/dl that significantly decreased after 8 h of therapy to 15.4 ± 3.4 mg/dl (p < 0.001). The decline of total serum bilirubin was 1 mg/dl/h. Bilirubin: albumin ratio decreased from 3.45 ± 0.28 to 2.7 ± 0.21 (p < 0.001). Total antioxidant capacity (TAC), superoxide dismutase (SOD), malondialdehyde (MDA), and total oxidative stress (TOS) concentrations were lower in cases (p < 0.001, p < 0.001, p = 0.049, and p < 0.001 respectively) compared to controls. Following 8 h of intensive phototherapy, further decline of TAC (p = 0.016) with increased concentrations of TOS (p = 0.005) were noted. SOD and MDA did not change. CONCLUSIONS Although efficacious, intensive phototherapy was associated with increased oxidative stress. The clinical correlates for harms related to such oxidative stress need further studying.
Biomedical and Pharmacology Journal, Jun 28, 2018
Transcription factor 7-like 2 (TCF7L2) variants are known risk factors of type 2 diabetes (T2DM).... more Transcription factor 7-like 2 (TCF7L2) variants are known risk factors of type 2 diabetes (T2DM).However, this association is not consistent among different populations. The current study aimed at investigating the relationship between rs 7903146, rs 12255372 variants of TCF7L2 and susceptibility to T2DM and different metabolic parameters in a cohort of Egyptian type 2 diabetic patients. This case control study included 60 diabetic patients and 60 matched unrelated healthy controls. Genotyping was performed by using Real Time-PCR. The frequency of genotypes, alleles, anthropometric measures, glycemic indices, HOMA-IR and lipid profile were evaluated in patients and control. Regarding rs 7903146, TT genotype was more frequent in healthy controls (43.3%) than diabetic patients (20%) (OR = 0.291, 95% CI = 0.108-0.788, P = 0.015). T allele was more frequent in healthy control (61.7%) than diabetic patients (44.2%) and it was associated with lower risk of diabetes (OR = 0.492, 95% CI = 0.294-0.823, P = 0.007). However, there was no significant difference between patients with CC, CT and TT genotypes of rs7903146 regarding HbA1C (p=0.549), HOMA-IR (p=0.359), total cholesterol (p=0.482) In contrast, T allele of rs12255372 had no significant relation to diabetes risk (OR = 0.602, 95% CI = 0.361-1.005, P = 0.052). There was no statistically significant difference of frequency of any rs12255372 genotypes between cases and controls. In addition, patients with GG,GT, TT genotypes of rs12255372 had no significant difference regarding HbA1C (p=0.393), HOMA-IR (p=0.985), total cholesterol (p=0.368). The study confirmed the association of TCF7L2 (rs 7903146) and T2DM, while failed to detect any association between TCF7L2 (rs 12255372) and susceptibility to T2DM. No significant difference in respect to metabolic parameters between different genotypes of rs7930146 and rs12255372.
In Egypt women are considered incomplete and dirty if their genitalia are left intact and unmutil... more In Egypt women are considered incomplete and dirty if their genitalia are left intact and unmutilated. The 1995 Demographic Health Survey in Egypt indicates that 97% of women in the country have had their genitalia mutilated. The prevalence of such mutilation is closer to 90% among women with a secondary or higher academic degree and among women living in the frontier regions of the country. The operation in Egypt usually involves the partial or full removal of the clitoris and the labia minora. However more radical procedures involve the removal of the clitoris the labia majora and the labia minora. The vagina is then sewed shut except for a small hole left for the passage of urine. This latter procedure infibulation is technically illegal in Egypt. Regardless of the severity of the operation female genital mutilation (FGM) often results in chronic pain especially during urination and intercourse and can lead to incontinence and even death. Egyptians are divided over the practice. While womens rights organizations have been conducting extensive media campaigns and are working closely with families to help end the practice change is coming only slowly. The strong social pressure to undergo FGM makes it hard for individual girls and women to oppose it.
Egyptian Journal of Medical Research
Frontiers in Genetics, 2022
Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic divers... more Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to reduce mortality and morbidity. Proper early sex identification reduces emotional, social, and psychological stress.Aim: Detection of a spectrum of aberrations in the CYP21A2 gene, including copy number variations, gene conversion, chimeric genes, and point variations.Methods: The CYP21A2 gene was screened using MLPA assay in 112 unrelated Egyptian children with 21-OHD CAH (33 males and 79 females).Results: In the studied group, 79.5% were diagnosed within the first month of life. 46.8% of the genetic females were misdiagnosed as males. Among the copy number variation results, large deletions in 15.4% and three types of chimeric genes in 9% (CH-1, CH-7, and CAH-X CH-1) were detected. Reg...
Journal of Hepatology, 2012
Median time to systemic treatment for unresectable disease was 111 days in North America, 127 in ... more Median time to systemic treatment for unresectable disease was 111 days in North America, 127 in Europe, and 41 in Asia. Approximately one third of patients across regions received systemic therapy as initial treatment; additional recorded treatments in this cohort included transplantation/resection (14-26%) and locoregional therapy (46-63%). Sorafenib was received by~90% of systemically treated patients in North America and Europe, and 58% in Asia. These results will be updated with second interim data that will be available in March 2012. Conclusions: This interim analysis of the HCC BRIDGE study shows variations in the regional use of systemic treatments in patients with HCC, some of which may be related to differences in patient access to specific therapies. Insights derived from these data may prove helpful in informing efforts to improve the future management of patients with HCC.
Advances in Respiratory Medicine, 2020
Introduction: Genome-wide association studies have identified that genetic polymorphisms in the t... more Introduction: Genome-wide association studies have identified that genetic polymorphisms in the telomerase reverse transcrip-tase (TERT) and cleft lip and palate transmembrane 1-like (CLPTM1L) genes may play important roles in the development of lung cancer in never smokers. Material and methods: This study was aiming to evaluate the associations between the risk of lung cancer in never smokers and single nucleotide polymorphisms in these genes by Real-Time Taqman assay, in forty lung cancer patients and forty apparently healthy age-matched controls selected from the chest department, Kasr Al-Ainy hospital from June 2018 to January 2019. Results: Adenocarcinoma was the most common histopathological subtype of lung cancer in the study patients. Also, the prevalence of females having adenocarcinoma was more common than males. The heterozygous form of the CLPTM1L occurred more frequently in the subjects aged above 46 years (P = 0.019). There was a significant association between (rs 27...
This work was designed to assess the serum zinc and copper levels in pregnant Egyptian ladies at ... more This work was designed to assess the serum zinc and copper levels in pregnant Egyptian ladies at delivery and in their corresponding offspring as well as to study the effects of these elements on intrauterine fetal growth. Thirty full term small for gestational age neonates (SGA) were studied together with their mothers at delivery. They were compared to thirty eight full term appropriate for gestational age (AGA) neonates as well as their mothers. Mothers of both groups of studied neonates were compared to 20 non pregnant ladies as regards serum zinc and copper level. All cases and controls were subjected to detailed history taking from mothers and all deliveries were attended. All babies were examined to exclude acute and chronic complications. Anthropometric measurements were taken at birth. Laboratory investigations including assessment of serum zinc and copper levels by atomic absorption spectrophotometry were performed. The results proved that serum zinc levels were significan...
Human Immunology, 2016
Studying predictors of response to therapy for hepatitis C virus (HCV) infection in children may ... more Studying predictors of response to therapy for hepatitis C virus (HCV) infection in children may help avoid the inappropriate use of currently available costly therapy associated with numerous adverse effects. We tested the hypothesis that inheritance of single nucleotide polymorphisms (SNPs) of the interleukin-10 (IL-10) promoter gene might influence response to HCV treatment. The impact of SNPs, -1082 G/A and -592 C/A, in the promoter region of IL-10 gene, on response to HCV therapy was assessed in a cohort of 40 children treated with a combination of pegylated interferon (Peg-IFN) α2b and ribavirin. Sustained virological response was achieved in 48.7%. High viral load was associated with non-response to therapy. There was no association between histopathological degree of inflammation or fibrosis and response to therapy. There was no direct statistically significant association between polymorphisms in the IL-10 gene (-1082G/A and -592 C/A) as regards inflammation or response to therapy in children. As for the SNP -592 C/A; there was a statistically significant association with the score of fibrosis (P&amp;amp;amp;amp;amp;lt;0.004), concluding that the A allele was protective from moderate and severe fibrosis. Meanwhile the SNP -1082G/A did not show any association with the fibrosis score. We could not associate response to therapy for HCV with IL-10 polymorphisms -1082 G/A and -592 C/A. For the SNP -592 C/A, the A allele protected from moderate and severe fibrosis.
Journal of Medical Screening, 2016
ObjectivesTo estimate the burden of metabolic disorders detectable by tandem mass spectrometry in... more ObjectivesTo estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme at Cairo University Children's Hospital in 2008, and examining the results of 3,900 clinically at-risk children, investigated at Cairo University Children’s Hospital for the same disorders over the past 7 years using the same technology.MethodsDried blood spots of 25,276 healthy newborns from three governorates in Upper, Middle, and Lower Egypt were screened, to give a representative sample of the Egyptian newborn population. Based on the pilot study outcomes and the results of clinically suspected children, we estimated the total birth prevalence of tandem mass spectrometry detectable metabolic disorders, and the relative frequency of several individual disorders.ResultsAmong the healthy newborns, 13 metabolic disorder cases (five phenylketonuria [1:5,000], two methylmalonic acidemia, and isovaleric acidemia [1:12,500], on...
Acta Endocrinologica (Bucharest), 2012
ABSTRACT Study Objective. To elucidate the association between POF and inhibin alpha (inhibin alp... more ABSTRACT Study Objective. To elucidate the association between POF and inhibin alpha (inhibin alpha) G769A gene mutation and BMP15 variants in patients with POF. Design. Prospective analytic study. Setting: University hospital. Patients. Forty subjects were included, twenty patients with premature ovarian failure, of them 12 presented with primary amenorrhea and 8 with secondary amenorrhea, and twenty control subjects. Genetic analysis for inhibin alpha gene was done by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism analysis (PCR- RFLP) and Bone Morphogenetic protein 15 (BMP15) by PCR- sequencing analysis. Measurements and Results. Regarding the inhibin alpha G769A gene mutation, heterozygous form was found in 3 patients of the primary amenorrhea group, while none of the secondary amenorrhea group or the control group displayed this mutation. A statistically significant prevalence of the G769A mutation among Egyptian women with POF presenting with primary amenorrhea was found. Mutational analysis of BMP15 gene performed by sequencing analysis showed no mutation among the patient or control group. Conclusion. In this study we concluded that inhibin alpha G769A gene mutation is more frequent among cases of POF presenting with primary amenorrhea and its presence conferred higher risk to development of POF. Variations of BMP15 gene were not encountered in the subjects of this study.
Abs tract: B a c kg ro u n d : Org an ic acid d is o rd ers are a g ro u p o f d is o rd ers ch a... more Abs tract: B a c kg ro u n d : Org an ic acid d is o rd ers are a g ro u p o f d is o rd ers ch aracterized b y th e excretio n o f non-amino organic acids in urine. Expanded newborn s c re ening methods by tandem mas s s pectrometry (MS/M S) can detect organic acide mias early in infancy with a better outcome when diagnos ed in the first ten days of life. Aim: This study aims at rev iewing the clinical, biochemical and neuroradiological data of patients diagnosed as organic acidemias and to highlight the importance of including organic acidemias in Newborn screening programs using MS/MS. Methods: Eight hundred p atients attending the neurometabolic clinic at Cairo Un iv e rsity Children Hos pital (CUCH) s creened for inborn errors of metabolis m (IEM) by M S/M S. Organic acid pro file in urine, by gas chromatography mas s s pectrometry (GC-M S/M S), was performed for selected cas es. Res ults : Nineteen patie n t s out the 800 cas es were diagnosed as organic acidemias (1/42).Three cas es (15.8%) were diagnosed as methyl malonic acidemias (MMA), 3 (15.8%) as â-ketothiolas e deficiency (BKT), 2 (10.5%) as 3-me t h y lcrotonylglycinuria (MCG), 3 (15.8%%)as biotinidase deficiency , 2 (10.5%) as Canavan disease, one patient (5.3%)for each of the following: glutaric aciduria type I, D-2 hydroxyglutaric a c id u ria ,is o v a le ric a c id u ria (IVA), as argininos uccinic aciduria (ASA),3-methyl glutaconic aciduria and propionic ac id e mia (P A). Dev elo p men tal delay was a d o minan t s y mp to m bein g p res en t in 16/19 (8 4 .2%) fo llowed b y metab o lic acidos is in 15/19(78.9%), vomit in g in 12(63.2%), encephalopathy with dis turbed cons cious level in 11 (57.8%), seizures in 8 (42%), overwhelming illness [encephalopathy, res p iratory distress, seizures, septicemia, persistent vomitings] in 8 (42%) namely in MMA, PA and BKT and diarrhea in 6(31%)cases. Central nervous system abnormalities in cluding cranial nerve affection in 8(42%) extrapyramidal man ifestations namely dystonia in 4 (21%), ataxia in 2(10.5%), long tract signs in 7(36.8%), h y p o to n ia in 11 (57.8%) p atien ts an d d y s mo rp h is m in 11 cas es (57.8%). Co n clu s io n : Screen in g fo r o rg an ic acidopathies by MS/MS using dried blood spot technique is a rapid and efficient method in detecting cases with suspected organic acidemias, requiring confirmatory tests by GC-MS. Including organic acidopathies in newborn screen in g wo u ld help in rapid and properly timed therapeutic intervention to prevent devas tating neurological outcomes. However, confirmatory tes ts by GC-M S are mandatory particularly for clinically s u s p ected cas es with n o rmal acy l carn itin e p ro file
Journal of the Turkish German Gynecological Association, 2009
To detect the serum levels of folate and B12 in both preclamptic and normotensive pregnant women ... more To detect the serum levels of folate and B12 in both preclamptic and normotensive pregnant women and to determine whether there is any relation between these levels with the uterine and umbilical artery Doppler indices as well as the pregnancy outcome. This case controlled study comprised 79 pregnant patients with preeclampsia and 113 healthy, normotensive pregnant women with singleton pregnancies at gestational ages ranging from 34-40 weeks. Patients were not obese (BMI<30) and did not suffer from chronic hypertension, chronic renal or liver disease nor diabetes mellitus. Serum folate and B12 were detected in all cases. They were also subjected to a Doppler study of both the uterine and umbilical arteries. Serum folate and B12 blood levels as well as the Doppler study indices (RI and PI) were compared in both groups. The serum folate level was significantly lower in preeclamptic patients than normal pregnant women (p<0.001). It was significantly correlated to uterine artery D...
The Indian Journal of Pediatrics, 2013
Objective To investigate the longitudinal changes in amino acid (AA) and acylcarnitine (AC) profi... more Objective To investigate the longitudinal changes in amino acid (AA) and acylcarnitine (AC) profiles of preterm neonates over the first 2 wk of life, and to detect any significant deviation from full term values that requires change of cutoff values used for detection of metabolic disorders in preterm neonates. Methods This observational analytical longitudinal study was conducted on 131 premature neonates (gestational age ranged from 27 to 36 wk) and 143 healthy full-term neonates. Dried blood spots were taken on the 5th and 14th postnatal day from the premature neonates and on day 5 from full term neonates for neonatal screening. Samples were analyzed for AA and AC using tandem mass spectrometer. Results Most AA significantly decreased on day 14 compared to day 5 among preterm neonates (p<0.05). The combined values of total carnitine (TC), total acylcarnitine (tAC) and short-chain acylcarnitines on day 5 among preterm neonates were statistically significantly higher compared to the day 14 sample (p 0.0001), whereas no statistically significant difference was found regarding the values of medium-, long-chain acylcarnitines, tAC/FC, and FC/TC (p>0.05). The levels of AA of preterm neonates were statistically significantly higher than that of the controls (p<0.05). The values of TC, tAC, short-, medium-and long-chain acylcarnitines, were significantly higher than those of the controls (p < 0.05). The reference ranges for preterm neonates were determined using the 1st and 99.9th percentiles. Conclusions AA and AC showed an age-related distribution of their concentrations. This underlines the importance of using appropriate reference values when working with a prematurely born population.
Hormone Research in Paediatrics, 2013
Background/Aims: Primary insulin-like growth factor-1 (IGF-1) deficiency (IGFD) is defined by low... more Background/Aims: Primary insulin-like growth factor-1 (IGF-1) deficiency (IGFD) is defined by low levels of IGF-1 without growth hormone (GH) deficiency and absence of secondary causes. The aim of this study was to evaluate IGF-1 in Egyptian children with idiopathic short stature (ISS) and describe patients with IGFD. Methods: This cross-sectional study included 50 children with ISS following up at the Diabetes Endocrine and Metabolism Pediatric Unit at Cairo University Pediatric Hospital. Children were included based on the following criteria: (1) short stature with current height standard deviation score (SDS) ≤-2.5; (2) age between 2 and 9 years in boys and 2 and 8 years in girls, and (3) prepubertal status. Exclusion criteria were: (1) identified cause of short stature and (2) pubertal children. IGF-1-deficient children were defined as children without GH deficiency and with IGF-1 levels below the 2.5th percentile. Results: Among 50 children with ISS, 14 (28%) patients had low I...