Vascular access challenges in hemodialysis children.

BACKGROUND: Hemodialysis (HD) success is dependent mainly on vascular access (VA). The aim of this study is to share the experience of Pediatric Nephrology Unit (PNU), Cairo University Children's Hospital (CUCH), with VA-related obstacles in end stage kidney disease (ESKD) HD children. METHODS: This is a retrospective analysis of VA related data of 187 ESKD children received regular HD over 3 year duration (2019-2021). Kaplan-Meier curves were used to present arteriovenous fistula (AVF) and cuffed catheters survivals. RESULTS: Uncuffed central venous catheter (CVC) was the primary VA for HD in up to 97.3% with 2.7% of patients had AVF performed and attained maturation before initiation of regular HD. Fifty-six (29.9%) patients have inserted 120 tunneled CVCs. AVFs & AV grafts (AVF) were performed in 79 (42.2%) and 6 (3.2%) patients respectively. There were 112 uncuffed CVCs implanted beneath the screen in Rt internal jugular vein (IJV) (44%) Lt IJV (17%), right internal mammary vein (2.7%) while Trans hepatic (TH) technique was used to place 39 uncuffed CVCs (34%) in the inferior vena cava (IVC). Catheter-related bacteremia (CRB) was the most frequent complication in uncuffed and cuffed CVCs (2.58 / 100 catheters day and 10.1 /1000 catheter days respectively). AVFs achieved a high success rate (83%) after 757.71 ± 512.3 functioning days. CONCLUSION: Native AVF is the preferred VA for pediatric HD but its creation is limited by the small sized vessels where non-cuffed CVC could be a reasonable relatively long-term alternative. Challenging situations (occluded central veins) could benefit from TH technique of CVC insertion in IVC.

A Comparative Study of Levetiracetam and Phenobarbital for Neonatal Seizures as a First Line Treatment.

Objectives: We aimed to evaluate the use of intravenous levetiracetam as the first-line treatment of neonatal seizures compared with phenobarbital. Methods: The study was conducted on 104 neonates (0-28 days) with clinical seizures after inclusion criteria. They were assigned in equal ratio into 2 groups; 1 included neonates who received phenobarbitone, and the other included neonates who received levetiracetam. Neonates were loaded with 20 mg/kg of intravenous drug-A (phenobarbitone) or drug-B (levetiracetam). In persistent seizures, a second loading dose of the same drug was given. Crossover to other drugs occurred if seizures persisted after the second dose of the same drug. The proportion of neonates who achieved cessation of seizures following the first or second loading dose of either drug-A or drug-B (PB or LEV) was the main outcome measure provided that they remained free of seizure for the following 24 hours. Results: After 1 or 2 doses of Levetiracatam or Phenobarbitone, clinical seizures stopped (and remained seizure-free for 24 hours) in 41 (78.84%) and 34 (65.38%) patients, respectively (P = .01). Neonates in the LEV group showed better seizure control than neonates in the PB group (RR = 0.57; 95% CI (0.17, 0.80). We did not report any adverse drug reactions in the LEV group. However, 12 (23.07%) neonates developed adverse drug reactions in the PB Group. Conclusion: Levetiracetam is considered an effective and safe drug as a first-line AED in neonatal seizures.

Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.

BACKGROUND: Primary hyperoxaluria (PH) is a rare heterogeneous, autosomal recessive disorder of glyoxylate metabolism. It is characterized by excessive hepatic production of oxalate resulting in a wide spectrum of clinical, imaging, and functional presentation. The characteristic features of PH comprise of recurrent urolithiasis, renal stones, and/or nephrocalcinosis. Three known types of PH have been identified PH1, PH2, and PH3. Pathogenic variants in AGXT, GRHPR, and HOGA1 cause the phenotypic expression of PH. METHODS: In this study, we describe the clinical and genetic findings of 22 patients from 21 unrelated Egyptian families with the distinctive clinical features of PH. A thorough clinical evaluation followed by an NGS custom panel of AGXT, GRHPR, and HOGA1 genes was done. RESULTS: Two novel mutations (p.Gly27Glu and p.Gln256Serfs*17) and six previously reported mutations (p.Lys12Glnfs*156, p.Lys12Argfs*34, p.Ile244Thr, p.Asn22Ser, p.Pro11Leu, and p.Ile340Met) were identified in AGXT gene. The NGS panel results were validated thereafter using Sanger sequencing. CONCLUSION: Our results extend the number of AGXT mutations identified so far and emphasize the important role of genetic testing in providing proper counseling and patients management.

The Impact of Vitamin D3 Supplementation to Topiramate Therapy on Pediatric Migraine Prophylaxis.

Background:There is still a need for more studies to evaluate the role of vitamin D3 in pediatric migraine prophylaxis. Objectives: We aimed to evaluate the effects and safety of vitamin D3 supplementation to topiramate on pediatric migraine. Methods: A double-blinded prospective clinical trial was conducted on 5- to 14-year-old children with migraine. They were randomly assigned in a 1:1 ratio into 2 groups, one with vitamin D3 supplementation (the supplementation group) and the other without vitamin D supplementation (the placebo group). The supplementation group received topiramate plus one 5000-IU dose of vitamin D3 daily for 4 months. The placebo group received topiramate with a placebo capsule without any effective substances. The primary outcomes were a monthly frequency of headache attacks, a good response to intervention, and reduction in migraine severity, duration, and disability before and after treatment. Fifty-six children completed the trial. Vitamin D3 supplementation to topiramate was more effective than the placebo group in the reduction of monthly frequency (6231.31 vs 9792.24 times, P = .01) and disability score for migraines (17 566.43 vs 25 187.65, P = .04). A good response was observed in 76.13% of patients in the vitamin D3 supplementation group and 53.5% of patients in the placebo group, and vitamin D3 supplementation was significantly more effective than placebo (P = .01). Side effects were observed in 13.3% and 20% of the intervention group and placebo groups, respectively, P = .5. Conclusion: Vitamin D3 supplementation in pediatric migraine prophylaxis could be a well-tolerated, safe, and effective strategy.

Primary hyperoxaluria type 1 in children: Clinical classification, renal replacement therapy, and outcome in a single centre experience.

Primary hyperoxaluria type 1 (PH1) is a rare disease that is challenged by the overproduced oxalate and commonly presented with radiopaque renal stones or obstructive uropathy. This study aimed to report clinical presentations, renal replacement therapy (RRT), and outcome of PH1 in end stage kidney disease (ESKD) children. This is an observational cohort study. Data of 22 patients with ESKD due to PH1 were analyzed at Pediatric Nephrology Unit, Faculty of Medicine Cairo University. Infantile onset patients (n = 10) had worst renal outcome (80% with ESRD at presentation, p = 0.019) and worse patient outcome (mortality 40%, p = 0.016) than juvenile (n = 9) and late onset (PH1 n = 3) patients. RRT modalities include peritoneal dialysis (PD) in 7 (31.8%), hemodialysis (HD) in 11 (50%), and combined liver kidney transplantation (CLKT) in 4 (18.2%) patients. Infectious complications were encountered in 42.8% of PD patients. Better HD adequacy was observed with frequent HD (n = 6) and/or HD via arteriovenous fistula (AVF) than with infrequent dialysis (n = 5) and/or via central venous line (CVL) (p = 0.0001 and 0.0047, respectively). Morbidity and mortality (infection related) rates of the whole cohort were 63.6% and 31.8%, respectively. Clinical presentation of PH1 varies according to the age of onset (infantile onset being the most aggressive form). Aggressive HD (better through AVF) is needed to achieve acceptable HD adequacy, PD was challenged by infection. Infection found to be the main cause of mortality even after successful CLKT.

Omega-3 supplementation in children with ADHD and intractable epilepsy.

BACKGROUND: Omega-3 may have a role in the treatment of drug- resistant epilepsy. OBJECTIVES: To evaluate omega-3 supplementation in seizure control in children with attention deficit hyperactivity disorder (ADHD) and intractable epilepsy. PATIENTS AND METHODS: Sixty children with ADHD and intractable epilepsy were enrolled. They were randomly assigned in a double-blind fashion in a 1:1 ratio into the omega-3 supplementation group or the placebo group in addition to risperidone and antiepileptic drugs. All patients were assessed for the frequency and severity of the epileptic attacks at baseline, monthly, and at 6 months from the beginning of the study; 30 children received omega-3 and the other 30 children received placebo. RESULTS: At baseline, the median number of seizures per month was 5 in both groups. After one month, this median decreased to 3 and became 2 after two months of supplementation with omega-3 in the supplementation group while it remained 5 in the control group. After 3 months and till the end of the study, this median decreased to 0 while it remained 5 in the control group throughout the study period. Children who were supplemented with omega-3 showed a significant decrease in the monthly frequency of seizure attacks after six months of supplementation compared to the baseline before supplementation (P < 0.05) There was no significant decrease in the severity of the seizures attacks among our patients with omega-3 supplementation (P > 0.05). CONCLUSION: Omega 3 may help in achieving good seizure control in children with ADHD and intractable epilepsy.

Risk Factors of Intractable Epilepsy in Children with Cerebral Palsy.

OBJECTIVES: We aimed to investigate the risk factors predicting the development of intractable epilepsy in children with cerebral palsy (CP), with an emphasis on perinatal characteristics, seizure semiology, imaging, and EEG findings. MATERIALS & METHODS: Following a descriptive, retrospective, case-control design, 106 children with CP and epilepsy from 2015 to 2020 were studied (46 children with CP and intractable epilepsy and 60 with CP and controlled epilepsy). Data were retrieved from medical records of participants (i.e., demographics, clinical characteristics, perinatal history, etiology of seizure and CP, seizure semiology, intellectual functions, therapeutic options, brain imaging, and EEG findings). RESULTS: We established a model of the most important risk factors that can predict intractable epilepsy in children with CP. The model included the additive effect of a poor Apgar score at 5 minutes, the presence of neonatal seizures, focal epilepsy, and focal slowing on the EEG background (Area under the receiver operating characteristic of 0.810). CONCLUSION: The findings can be used to identify intractable epilepsy in children who suffer from CP with further support by offering early therapeutic interventions intended to reduce the burden of refractory seizures.

Pediatric kidney transplantation in Egypt: Results of 10-year single-center experience.

Pediatric kidney transplantation is a multidisciplinary therapy that needs special consideration and experience. In this study, we aimed to present CUCH experience; over a 10-year period, as a specialized center of kidney transplantation in children. We studied 148 transplantations performed at a single center from 2009 to 2018. Pretransplant and follow-up data were collected and graft/patient survival rates were evaluated. A total of 48 patients developed at least one rejection episode during 688 patient-years of follow-up. Infections, recurrence of original disease, and malignancy were the most important encountered medical complications (20%, 2%, and 1.4%, respectively). One-year patient survival was 94.1%, while graft and patient survival was 91.9%. Graft/patient survival at 5, 7, and 9 years was 90%, 77%, and 58%, respectively. Infections were the main cause (69%) of mortality. Death with a functioning graft and CR were the main causes of graft loss (48% and 33%, respectively). Pediatric kidney transplantation in Egypt is still a challenging yet successful experience. Rejections and infections are the most frequent complications. Short-term outcomes surpass long-term ones and graft survival rates are similar to the international standard.