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Aziz, M., A. El-Hadad, and M. A. Kotb, "Polymorphisms of glutathione S transferase gene and CYP1A1 associated with childhood acute lymphoblastic leukemia.", Egypt Journal of Laboratory Medicine , vol. 17, issue 1,2, pp. 193-202, 2005.
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EE Habib EE, M. S. M. El-Minawi, and M. A. Kotb, "Late effects and audiologic findings of childhood acute lymphblastic leukemia and lymphoma survivors treated by chemotherapy with or without cranial irradiation. ", Scientific Medical Journal , vol. 18, issue 2, pp. 14-27, 2006.
El-Karaksy, H., N. El-Koofy, M. El-Hawary, A. Mostafa, M. Aziz, M. El-Shabrawi, N. A. Mohsen, M. Kotb, M. El-Raziky, M. A. El-Sonoon, et al., "Prevalence of factor V Leiden mutation and other hereditary thrombophilic factors in Egyptian children with portal vein thrombosis: results of a single-center case-control study.", Annals of hematology, vol. 83, issue 11, pp. 712-5, 2004 Nov. Abstract

No identifiable cause can be found in more than half of the cases of portal vein thrombosis (PVT). Our aim was to assess the prevalence of factor V Leiden mutation and other thrombophilic factors as risk factors in the development of PVT in the pediatric age group. From March 2001 to January 2002, 40 children with PVT were enrolled in the study, in addition to 20 age-matched and sex-matched controls. Protein C, protein S, antithrombin III, and activated protein C resistance (APCR) were assayed. Molecular study of factor II and factor V mutations was carried out. Of the patients, 25 had detectable hereditary thrombophilia (62.5%), 12 had factor V Leiden mutation (30%), 11 had protein C deficiency (27.5%), 6 had factor II mutation (15%), 1 had antithrombin III deficiency (2.5%), and none had protein S deficiency. Five children had concurrence of more than one defect. Factor V Leiden mutation is the most common hereditary thrombophilia associated with PVT and the relative risk of factor V Leiden mutation, as a cause of PVT, was six times more than in controls (odds ratio=6). Concurrence of more than one hereditary thrombophilic factor was seen in 12.5% of our patients. Circumstantial risk factors (neonatal sepsis, umbilical sepsis, umbilical catheterization) were not more significantly prevalent among patients with hereditary thrombophilia than among those with no detectable abnormalities in anticoagulation.

El-Karaksy, H., M. El-Shabrawi, N. Mohsen, M. Kotb, N. El-Koofy, and N. El-Deeb, "Capillaria philippinensis: a cause of fatal diarrhea in one of two infected Egyptian sisters.", Journal of tropical pediatrics, vol. 50, issue 1, pp. 57-60, 2004 Feb. Abstract

Capillaria philippinensis is an emerging infection in Egypt. Reports in children are scarce. We report here two sisters with C. philippinensis infection, aged 8 and 12 years. Their father was a fisherman and they had a habit of picking small pieces of uncooked fish to eat while their mother prepared their meals. They came from El-Menia governorate, which lies in the northern part of Upper Egypt. Most reported cases from Egypt come from this governorate and nearby areas. Both sisters had persistent profuse watery diarrhea of 12 months' duration. Their weights were below the 5th percentile for age. Both were hypoalbuminemic, but only the younger had pedal edema. Both had hypokalemia and hyponatremia. During the course of their illness they were repeatedly admitted to different hospitals and received intravenous fluids, but the correct diagnosis was not reached. Diagnosis was made by stool examination at our hospital when eggs and larvae were detected in stool samples. Although a diagnosis was promptly made, the older sister who suffered from pneumonia and septic shock unfortunately died a few days after admission. The younger sister was treated successfully with albendazole 200 mg twice daily. Diarrhea abated, pedal edema disappeared, and she started to gain weight.

El-Raziky, M. S., M. El-Hawary, N. El-Koofy, S Okasha, M Isa, M. Kotb, K. Salama, G. Esmat, M. El-Raziky, A. M. Abouzied, and H. El-Karaksy, "Hepatitis C virus infection in Egyptian children: single centre experience.", Journal of viral hepatitis, vol. 11, issue 5, pp. 471-6, 2004 Sep. Abstract

The outcome of hepatitis C virus (HCV) infection acquired in childhood is uncertain because of the diversity of the epidemiological and clinical features of infection and disease. The aim of this study was to determine the outcome of HCV infection in 105 Egyptian children who tested positive for HCV antibody (anti-HCV). The data of 105 anti-HCV-positive children presenting to the Pediatric Hepatology Unit, Cairo University Children's Hospital, between 1995 and 2002, were retrospectively analysed for risk factors. Seventy-four children with available polymerase chain reaction results were further analysed clinically, serologically and histologically. The age range was 1.3-22 years, with a mean of 11.2 +/- 4.9 years. History of blood transfusion was found in 81 children (77%). HCV RNA was detected in 58.1% of 74 children. Persistently elevated alanine aminotransferase (ALT) levels were present in 40 patients (54.1%). Hepatitis B virus markers (HBsAg and/or anti-HBc) were detected in 18 patients (24.3%). Twenty-six of the 43 HCV RNA-positive children underwent a diagnostic liver biopsy that showed chronic hepatitis in 19 patients (73.1%), cirrhosis in one case only (3.8%), and normal biopsy findings in seven children (26.9%). Blood transfusion remains a major risk of HCV transmission among Egyptian children. HCV infection is not always benign in the childhood period. ALT levels remain elevated in half of the children and histological abnormalities are detected in three quarters of HCV RNA-positive cases.

El-Shabrawi", "M. H. F., H. M. El-karaksy, S. H. Okasha, H. M. El-Sayed, M. A. Kotb, A. M. Hassan, and A. - M. Ibrahim, "Pulmonary Function Testing in Children with Chronic Liver Disease", Alexandria Journal of Pediatrics, Volume 16, Number 2, , vol. 16, issue 2, pp. 405-409, 2002. pulmonary_function_testing_in_children_with_chronic_liver_disease2002_16_2_405.pdf
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Habib, E. E., M. Aziz, and M. Kotb, "Genetic polymorphism of folate and methionine metabolizing enzymes and their susceptibility to malignant lymphoma.", Journal of the Egyptian National Cancer Institute, vol. 17, issue 3, pp. 184-92, 2005 Sep. Abstract

BACKGROUND: Folate and methionine metabolism is involved in DNA synthesis and methylation. Polymorphisms in the genes of folate metabolism enzymes have been associated with some forms of cancer. In the present study, 2 polymorphisms were evaluated for a folate metabolic enzyme, methylene-tetrahydrofolate reductase (MTHFR), and one was evaluated for methionine synthase (MS). The 2 polymorphisms MTHFR 677 C-->T and MTHFR 1298 A-->C, are reported to reduce the enzyme activity, which causes intracellular accumulation of 5, 10- methylene-tetrahydrofolate and results in a reduced incidence of DNA double strand breakage. The MS 2756 A-->G polymorphism also reduces the enzyme activity and results in the hypomethylation of DNA.

PATIENTS AND METHODS: To test this hypothesis, genetic polymorphisms in the folate metabolic pathway were investigated using the DNA from a case-control study on 31 patients having malignant lymphoma from the Oncology Outpatient Clinic of the New Children's Hospital, Cairo University and 30 controls who were actually normal children attending for vaccination to the same hospital.

RESULTS: We found that there is a higher susceptibility with the MTHFR 677CC and MTHFR 1298 AA genotypes (OR=4.3, 95% CI 1.12-16). When those harbor at least one variant allele in either polymorphism of MTHFR they were defined as reference. For the MS 2756 AG genotype polymorphism there was also a higher susceptibility to developing malignant lymphoma (OR=2.6; 95% CI 1.1- 6.4).

CONCLUSION: Results suggest that folate and methionine metabolism may play an important role in the pathogenesis of malignant lymphoma. Further studies to confirm this association and detailed biologic mechanisms are now required.

HOSNI, H. N., M. M. Kamel, M. A. Kotb, and M. GHEITH, "Histopathological Study of Upper Gastrointestinal Tract for Helicobacter Pylori and Giardiasis in Egyptian Children", Med. J. Cairo Univ., vol. 80, issue 1, pp. 283-291, 2012.
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Kotb, M. A., A. Idrees, W. N. Lotfi, G. Taha, and M. Aziz, "Elevated levels of interleukin 18 in children with acute and chronic liver disease: Further evidence of T-cell- mediated liver injury.", Alexandria Journal of Pediatrics, vol. 16, issue 2, pp. 327-332, 2002.
Kotb, M. A., "Ursodeoxycholic acid in neonatal hepatitis and infantile paucity of intrahepatic bile ducts: review of a historical cohort.", Digestive diseases and sciences, vol. 54, issue 10, pp. 2231-41, 2009 Oct. Abstract

We retrospectively reviewed the role of ursodeoxycholic acid in infants having nonsurgical cholestasis attending the Hepatology Clinic, New Children Hospital, Cairo University, Egypt, from 1985 until 2005. Files of 496 infants with neonatal hepatitis and 97 with intrahepatic bile duct paucity were included; of them 241 (48.6%) and 52 (46.4%) received 20-40 mg/kg/day ursodeoxycholic acid for 319.2 +/- 506.9 days and 480.3 +/- 583.3 days, respectively. The outcome of infants with neonatal hepatitis with intake of ursodeoxycholic acid and those without was: 108 (44.8%) and 179 (70.2%) successful (P = 0.000), 11 (4.6%) and 13 (5.1%) improved (P = 0. 474), 112 (46.5%) and 61 (23.9%) suffered failed outcome (P = 0.000), and 10 (4.1%) and 2 (0.78%) died (P = 0.014), respectively. Likelihood of successful outcome with ursodeoxycholic acid intake was 0.345 (P = 0.000), and that of deterioration was 2.76 (P = 0.000). For those having intrahepatic bile duct paucity likelihood of successful outcome with ursodeoxycholic acid intake was 0.418 (P = 0.040) and that of deterioration was 2.64 (P = 0.028). Ursodeoxycholic acid failed in management of this cohort of infants with nonsurgical cholestasis.

Kotb, M. A., H. N. Elmahdy, F. E. Mostafa, E. M. Falaki, C. W. Shaker, M. A. Refaey, and K. W. Y. Rjoob, "Improving the Recognition of Heart Murmur", International Journal of Advanced Computer Science and Applications, vol. 7, issue 7, pp. 283-287, 2016.
Kotb, M. A., S. Hamad, and Moussa S, "Pericentric inversion of chromosome 15 [inv(15) (q12p11.20)] in children with conduct disorder.", The Egyptian Journal of Psychiatry , vol. 23, issue 2, pp. 165-178, 2000.
Kotb, M. A., "Aflatoxins in Infants with Extrahepatic Biliary Atresia", Med. J. Cairo Univ., vol. 83, issue March 1, pp. 207-210,, 2015. Aflatoxins in Infants with Extrahepatic Biliary Atresia
Kotb, M. A., L. Mansour, and R. A. Shamma, "Screening for galactosemia: is there a place for it?", International Journal of General Medicine, vol. 12, pp. 193–205, 2019. 23-may-2019-ijgm-180706-screening-for-galactosemia-is-there-a-place-for-it-.pdf
Kotb, M. A., E. M. Hawary, S Mansour S, W. Lotfi, S. Shaker, S Okasha, M Isa, M Aziz M, and S. Talaat, "Protein C activity, protein S, antithrombin III, factor V leiden (Q506) mutation and methylene tetrahydrofolate reductase 677-T polymorphism in children with hepatic veno-occlusive disease.", Alexandria Journal of Pediatrics , vol. 21, issue 3, pp. 451-455, 2007.
Kotb, M. A., M. Kamal, S. Mansour, E. M. Hawary, W. N. Lotfi, H. Hamdi, M. M. E. Barbary, S. Kaddah, W. Mostafa, and A. Kotb, "Progression of disease in extrahepatic biliary atresia is associated with reduced total hepatic blood flow: descriptive results of a prospective pilot study ", Alexandria Journal of Pediatrics , vol. 20, issue 1, pp. 63-68, 2006.
Kotb, M. A., O. Afify, E. M. Hawary, and S Okasha, M Isa, "EEG changes in liver glycogenoses: a crosssectional study.", Alexandria Journal of Pediatrics , vol. 18, issue 1, pp. 61-65, 2004.
Kotb, M. A., "Review of historical cohort: ursodeoxycholic acid in extrahepatic biliary atresia.", Journal of pediatric surgery, vol. 43, issue 7, pp. 1321-7, 2008 Jul. Abstract

BACKGROUND: Ursodeoxycholic acid is a bile acid that was found to increase bile flow, protect hepatocytes, and dissolve gallstones.

PURPOSE: The objective of this study is to review ursodeoxycholic acid in infants and children with extrahepatic biliary atresia.

METHODS: We used a statistical analysis of data of records of infants and children having extrahepatic biliary atresia who underwent Kasai portoenterostomy and attended Hepatology Clinic, New Children's Hospital, Cairo University, Egypt, from May 1985 until June 2005.

RESULTS: Of 141 infants with extrahepatic biliary atresia, 108 received ursodeoxycholic acid for mean duration +/- SD of 252.6 +/- 544.9 days in a dosage of 20 mg/kg per day. The outcome of infants who did not receive ursodeoxycholic acid and those who did was the following: 8 (24.2%) and 11 (10.18%) had a successful outcome (P = .043), 0 (0%) and 7 (6.4%) improved (P = .148), 25 (75.7%) and 84 (77.7%) had a failed outcome (P = .489), and none vs 5 died (4.6%) (P = .135), respectively. The predictors of successful outcomes were age less than 65 days at portoenterostomy (P = .008) and absence of ursodeoxycholic acid intake (P = .04) with a likelihood of a successful outcome that was 2.8, that associated with ursodeoxycholic acid intake.

CONCLUSION: In this cohort of infants with extrahepatic biliary atresia, ursodeoxycholic acid was not shown to be effective, and its use was associated with a plethora of hepatic and extrahepatic complications.

Kotb, M. A., "EXTRAHEPATIC BILIARY ATRESIA; KOTB DISEASE IS POTENTIALLY PREVENTABLE", Excellence in Pediatrics Conference, London, UK, December, 2015.
Kotb, M. A., and M. Aziz, "Antineutrophil cytoplasmic antibodies and other antibodies in neonatal hepatitis and extrahepatic biliary atresia.", Scientific Medical Journal , vol. 12, issue 3, pp. 41-51, 2000.
Kotb, M. A., H. K. Abdallah, and A. Kotb, "Liver glycogenoses: are they a possible cause of polyneuropathy? A cross-sectional study.", Journal of tropical pediatrics, vol. 50, issue 4, pp. 196-202, 2004 Aug. Abstract

We encountered two children suffering from liver glycogenoses (GSD) over a period of 5 years (1992-1997) who presented with a demyelinating peripheral neuropathy diagnosed by electromyography (EMG) and nerve conduction studies (NCV). The aim of the study was to evaluate the involvement of muscle and motor nerve in children suffering from liver glycogenoses. In a cross-sectional study, 22 children suffering from liver GSD (with no current neurological symptoms) and 20 age- and sex- matched clinically free children (control group) underwent creatine phospho-kinase (CPK), EMG, and NCV studies. Abnormal EMG and/or NCV studies were found in 11 children. Six (27.27 per cent) were found to have axonopathy, three (13.63 per cent) demyelinating polyneuropathy, and two (9.1 per cent) had mixed axonal and demyelinating neuropathy. Two children with axonopathy had GSD type VI, another had GSD type IV, and three had GSD of undiagnosed type. Three of those having a demyelinating polyneuropathy had GSD type III, another had GSD type IV, and the last had GSD of undiagnosed type. None were found to have a cardiomyopathy or a myopathy on EMG. This is the first report of neuropathy associated with GSD types III, IV, and VI in children. It might be discovered by EMG and/or NCV studies in a clinically, neurologically normal child suffering from GSD, or present as an acute polyneuropathy.

Kotb, M. A., Elmahdy H.N., Khalifa N., Hamed M., and Lotfi M.A., "Pediatric Online Evidence-Based Medicine Assignment Is a Novel Effective Enjoyable Undergraduate Medical Teaching Tool: A SQUIRE Compliant Study.", Medicine, vol. 94, issue 29, pp. 1178, 2015. Website
Kotb, M. A., I. Draz, C. W. Basanti, S. T. El Sorogy, H. M. Abd Elkader, H. Esmat, H. Abd El Baky, and D. S. Mosallam, "Cholestasis In Infants With Down Syndrome Is Not Due To Extrahepatic Biliary Atresia: A Ten-Year Single Egyptian Centre Experience.", Clinical and experimental gastroenterology, vol. 12, pp. 401-408, 2019. Abstract

Purpose: We aimed to define the clinical presentations, course and outcome of cholestasis in infants with Down syndrome (trisomy 21) who presented to the Pediatric Hepatology Clinic, New Children Hospital, Cairo University, Egypt.

Methods: Retrospective analysis of data of cohort of infants with Down syndrome and cholestasis who followed up during 2005-2015.

Results: Among 779 infants with cholestasis who presented during 2005-2015, 61 (7.8%) had Down syndrome. Six dropped out. Among the 55 who followed-up for a mean duration +SD = 12.1 ± 16.7 months, none had extrahepatic biliary atresia (EHBA), 37 (63.3%) had neonatal hepatitis and 18 (32.7%) had non-syndromic paucity of intrahepatic biliary radicals. Fourteen (25.4%) had associated congenital heart disease. Only 35 (63.3%) cleared the jaundice. Twenty-nine (52.7%) received ursodeoxycholic acid (UDCA); of them, 13 cleared the jaundice, one improved, 14 progressed and one died, compared to 22 who cleared the jaundice of the 26 who did not receive UDCA. Only three of those who did not receive UDCA progressed and none died. UDCA carried a 3.4-fold risk of poor prognosis (= 0.001). UDCA use was associated with more complications (= 0.016) in those with Down syndrome and cholestasis.

Conclusion: We did not come across EHBA among neonates and infants with Down syndrome in 10 years. Non-syndromic paucity is associated with favorable outcome in infants with Down syndrome. UDCA use in cholestasis with Down syndrome is associated with poor outcome.