Kotb, M. A., D. Mosallam, C. W. S. Basanti, S. T. M. El Sorogy, A. M. Badr, H. E. H. Abd El Baky, and I. H. Draz, "Ursodeoxycholic acid use is associated with significant risk of morbidity and mortality in infants with cholestasis: A strobe compliant study.", Medicine, vol. 99, issue 7, pp. e18730, 2020. Abstract

The off-label use of medications is a "right" for pediatricians, owing to lack of enough safety and effectiveness drug trials in pediatric age group. Pediatricians have to rely on their personal judicial use of medications in children.We studied off-label use of ursodeoxycholic acid (UDCA) retrospectively during 2005 to 2015 among those who attended the Pediatic Hepatology Unit, Cairo University.We analyzed data of 779 neonates and infants with cholestasis. 15% dropped out. Males comprised 374 (56.5%). Cholestasis was due to surgical causes in 129 (19.5%), neonatal hepatitis in 445 (67.2%), and paucity of intrahepatic bile ducts in 88 (13.3%). Three hundred sixty (54.4%) received UDCA (15-30 mg/kg/d), and 302 (45.6%) did not. Both groups were matched as regards causes and severity of cholestasis. Those who received UDCA had worse outcome (P < .001), and more complications (P < .001). A total of 73.1% (221) achieved cure without UDCA compared to only 45.8% (165) of those on UDCA (P < .001).UDCA is not effective and not safe in Egyptian neonates and infants with cholestasis. UDCA use compromises chance of cure, and is associated with serious morbidity, progression of disease, and death. UDCA off-label use mortality was absolutely preventable. Off- label use of UDCA in neonates and children should be utterly prohibited. Information of use of off-label medications, effectiveness, and safety, should be recorded, analyzed, and made available within context of Off-label Use Registry Studies with informed consent of parents.

Magd Ahmed Kotb, K. W. 2, Hesham Nabih Elmahdy, Hadeel Mohamed Seif El Dein, F. Z. Mostafa, Mohammed Ahmed Refaey, I. H. Draz, and C. W. S. Basanti, "The Machine Learned Stethoscope Provides Accurate Operator Independent Diagnosis of Chest Disease", Medical Devices: Evidence and Research, vol. 13, pp. 13—22, 2020. mder-221029-the-machine-learned-stethoscope-provides-accurate-operator-i.pdf
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.

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., A. F. Hamza, H. Abd El Kader, M. El Monayeri, D. S. Mosallam, N. Ali, C. W. S. Basanti, H. Bazaraa, H. A. Rahman, M. M. Nabhan, et al., "Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience.", Pediatric transplantation, vol. 23, issue 1, pp. e13313, 2019 02. Abstract

Primary hyperoxalurias are rare inborn errors of metabolism with deficiency of hepatic enzymes that lead to excessive urinary oxalate excretion and overproduction of oxalate which is deposited in various organs. Hyperoxaluria results in serious morbid-ity, end stage kidney disease (ESKD), and mortality if left untreated. Combined liver kidney transplantation (CLKT) is recognized as a management of ESKD for children with hyperoxaluria type 1 (PH1). This study aimed to report outcome of CLKT in a pediatric cohort of PH1 patients, through retrospective analysis of data of 8 children (2 girls and 6 boys) who presented by PH1 to Wadi El Nil Pediatric Living Related Liver Transplant Unit during 2001-2017. Mean age at transplant was 8.2 ± 4 years. Only three of the children underwent confirmatory genotyping. Three patients died prior to surgery on waiting list. The first attempt at CLKT was consecutive, and despite initial successful liver transplant, the girl died of biliary peritonitis prior to scheduled renal transplant. Of the four who underwent simultaneous CLKT, only two survived and are well, one with insignificant complications, and other suffered from abdominal Burkitt lymphoma managed by excision and resection anastomosis, four cycles of rituximab, cyclophosphamide, vincristine, and prednisone. The other two died, one due to uncontrollable bleeding within 36 hours of procedure, while the other died awaiting renal transplant after loss of renal graft to recurrent renal oxalosis 6 months post-transplant. PH1 with ESKD is a rare disease; simultaneous CLKT offers good quality of life for afflicted children. Graft shortage and renal graft loss to oxalosis challenge the outcome.

M.A., K., Elmahdy H.N., M. F., Shaker C.W., Refaey M.A., and R. K.W.Y., "Recognition of Heart Murmur Based on Machine Learning and Visual Based Analysis of Phonocardiography.", Intelligent Computing. SAI 2018. Advances in Intelligent Systems and Computing,: Springer, Cham, 2019.
Marwa Geith, Ayman A. El-Badry, E. Y. Abu-Sarea, and Magd A. Kotb, "Intestinal Parasitosis and Pediatric Hepatic Disease: Corproscopy and Immuno Molecular Assays", Journal of the Egyptian Society of Parasitology , vol. 48, issue 2, pp. 475-480, 2018.
Kotb, M. A., L. Mansour, C. W. S. Basanti, W. Elgarf, G. I. Z. Ali, S. T. Mostafa El Sorogy, I. E. M. Kamel, and N. M. Kamal, "Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.", Journal of advanced research, vol. 12, pp. 39-45, 2018 Jul. Abstract

Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and complications of galactosemia at Pediatric Hepatology Clinic, Cairo University, Egypt. Thus, the clinical presentation, course and outcome of 37 children with documented galactosemia was studied. Jaundice was the main presentation (67.6%). Other presentations included; convulsions (29.7%), motor retardation (24.3%), mental retardation (5.4%), microcephaly (5.4%), failure to thrive (16.2%), hepatomegaly (62.2%), splenomegaly (35.1%), vomiting (16.2%), diarrhea (8.1%), liver cell failure (10.8%), renal tubular acidosis (5.4%), cataract (5.4%), autoimmune hepatitis (2.7%), self-mutilation (2.7%), combined immune deficiency (2.7%) and kernicterus (2.7%). There was no correlation of residual enzyme activity to severity, clinical presentation, liver function tests, liver biopsy findings or outcome apart from highly significant correlation with repeated chest infections ( = 0.001). Duration to diagnosis and exposure to galactose in diet correlated with liver pathology severity i.e. hepatocyte necrosis ( = 0.003) and cytoskeleton damage ( = 0.003), but not to outcome. Galactosemia should be suspected in any child with liver, neurologic disease and/or immunodeficiency. Its complications are potentially preventable. Early detection is mandatory to prevent serious morbidity and mortality. Initiation of neonatal screening for galactosemia in Egypt is recommended.

Soliman, N. A., M. M. Nabhan, S. M. Abdelrahman, H. Abdelaziz, R. Helmy, K. Ghanim, H. M. Bazaraa, A. M. Badr, O. A. Tolba, M. A. Kotb, et al., "Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.", Nephrologie & therapeutique, vol. 13, issue 3, pp. 176-182, 2017 May. Abstract

BACKGROUND AND AIM: Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients.

METHODS: This descriptive cohort study included patients with presumable PH1 presenting with nephrolithiasis and/or nephrocalcinosis (NC). Precise clinical characterization of renal phenotype as well as systemic involvement is reported. AGXT mutational analysis was performed to confirm the diagnosis of PH1.

RESULTS: The study cohort included 26 patients with presumable PH1 with male to female ratio of 1.4:1. The median age at time of diagnosis was 6 years, nevertheless the median age at initial symptoms was 3 years. Thirteen patients (50%) were diagnosed before the age of 5 years. Two patients had no symptoms and were diagnosed while screening siblings of index patients. Seventeen patients (65.4%) had reached end-stage renal disease (ESRD): 6/17 (35.3%) during infancy, 4/17 (23.5%) in early childhood and 7/17 (41.29%) in late childhood. Two patients (7.7%) had clinically manifest extra renal (retina, heart, bone, soft tissue) involvement. Mutational analysis of AGXT gene confirmed the diagnosis of PH1 in 15 out of 19 patients (79%) where analysis had been performed. Fifty percent of patients with maintained renal functions had projected 10 years renal survival.

CONCLUSION: PH1 is a heterogeneous disease with wide spectrum of clinical, imaging and functional presentation. More than two-thirds of patients presented prior to the age of 5 years; half of them with the stormy course of infantile PH1. ESRD was the commonest presenting manifestation in two-thirds of our cohort.

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