Inverse ratio ventilation versus conventional ratio ventilation during one lung ventilation in neonatal open repair of esophageal atresia/tracheoesophageal fistula: A randomized clinical trial.

BACKGROUND: Maintaining oxygenation during neonatal open repair of esophageal atresia/tracheoesophageal fistula is difficult. Inverse ratio ventilation can be used during one lung ventilation to improve the oxygenation and lung mechanics. OBJECTIVE: The aim of this study was to describe the impact of two different ventilatory strategies (inverse ratio ventilation vs. conventional ratio ventilation) during one lung ventilation in neonatal open repair of esophageal atresia/tracheoesophageal fistula on the incidence of oxygen desaturation episodes. METHODS: We enrolled 40 term neonates undergoing open right thoracotomy for esophageal atresia/tracheoesophageal fistula repair and randomly assigned into two groups based on inspiratory to expiratory ratio of mechanical ventilation parameters (2:1 in inverse ratio ventilation "IRV" and 1:2 in conventional ratio ventilation "CRV"). The incidence of desaturation episodes that required stopping the procedure and reinflation of the lung were recorded as the primary outcome while hemodynamic parameters, incidence of complications, and length of surgical procedure were recorded as the secondary outcomes. RESULTS: There was a trend toward a reduction in the incidence of severe desaturations (requiring stopping of surgery) with the use of inverse ratio ventilation (15% in IRV vs. 35% in CRV, RR [95% CI] 0.429 [0.129-1.426]). Incidence of all desaturations (including those requiring only an increase in ventilatory support or inspired oxygen saturation) was also reduced (40% in IRV vs. 75% in CRV, RR [95% CI] 0.533 [0.295-0.965]). This in turn affected the length of surgical procedure being significantly shorter in inverse ratio ventilation group (mean difference -16.3, 95% CI -31.64 to -0.958). The intraoperative fraction of inspired oxygen required to maintain adequate oxygen saturation was significantly lower in the inverse ratio ventilation group than in the conventional ratio ventilation group (mean difference -0.22, 95% CI -0.33 to -0.098), with no significant difference in hemodynamic stability or complications apart from higher blood loss in inverse ratio group. CONCLUSION: There may be a role for inverse ratio ventilation with appropriate positive end-expiratory pressure to reduce the incidence of hypoxemia during open repair of esophageal atresia/tracheoesophageal fistula in neonates, further studies are required to establish the safety and efficacy of this technique.

[Propofol-ketamine versus dexmedetomidine-ketamine for sedation during upper gastrointestinal endoscopy in pediatric patients: a randomized clinical trial]. / Propofol­cetamina versus dexmedetomidina­cetamina para sedação durante endoscopia digestiva alta em pacientes pediátricos: estudo clínico randomizado.

BACKGROUND AND OBJECTIVES: Day-case pediatric sedation is challenging. Dexmedetomidine is a sedative analgesic that does not induce respiratory depression. We compared dexmedetomidine to propofol when it was added to ketamine for sedation during pediatric endoscopy, regarding recovery time and hemodynamic changes. METHODS: We enrolled 120 patients (2-7 years in age) and randomly assigned them into two groups. Each patient received intravenous (IV) ketamine at a dose of 1 mg.kg-1 in addition to either propofol (1 mg.kg-1) or dexmedetomidine (0.5 µg.kg-1). The recovery time was compared. Hemodynamics, oxygen saturation, need for additional doses, postoperative complications and endoscopist satisfaction were monitored. RESULTS: There was no significant difference in hemodynamics between the groups. The Propofol-Ketamine (P-K) group showed significantly shorter recovery times than the Dexmedetomidine-Ketamine (D-K) group (21.25 and 29.75 minutes respectively, p <0.001). The P-K group showed more oxygen desaturation. Eleven and six patients experienced SpO2 <92% in groups P-K and D-K, respectively. A significant difference was noted regarding the need for additional doses; 10% of patients in the D-K group needed one extra dose, and 5% needed two extra doses, compared to 25% and 20% in the P-K group, respectively (p=0.001). The P-K group showed less post-procedure nausea and vomiting. No statistically significant difference between both groups regarding endoscopist satisfaction. CONCLUSIONS: The P-K combination was associated with a shorter recovery time in pediatric upper gastrointestinal endoscopy, while the D-K combination showed less need for additional doses. REGISTRATION NUMBER: Clinical trials.gov (NCT02863861).

Comparison between nasopharyngeal airway and laryngeal mask airway in blepharoplasty under general anaesthesia. A randomized controlled trial.

INTRODUCTION: Blepharoplasty can be performed under local infiltration anaesthesia with or without sedation or general anaesthesia depending upon the surgical plan, patient and surgeon preferences, and duration of surgery. Securing the airway with an endotracheal tube or a laryngeal mask airway may cause sore throat. The primary aim of our study was to compare the incidence of this complication between the nasopharyngeal and laryngeal mask airways among patients receiving general anaesthesia during blepha-roplasty. MATERIAL AND METHODS: One hundred forty-eight patients (40-60 years old), ASA II-III, were randomly and evenly assigned to one of two groups. After induction of general anaesthesia, a nasopharyngeal airway or a laryngeal mask airway was inserted according to group allocation. All patients received local infiltration anaesthesia given by the surgeon. Haemodynamic variables, oxygen saturation, end-tidal CO2, failure rate and recovery time were monitored. Postoperative complications (mainly sore throat) as well as patients' and surgeon's satisfaction, were recorded. RESULTS: Compared to laryngeal mask airways, the use of nasopharyngeal airways was associated with significantly lower incidence of sore throat (4.0% vs. 17.6% with a difference of 13.5%, 95% CI [3.5-24.1%], P < 0.015), shorter recovery times (10.3 min ± 2.84 min vs. 12.6 min ± 2.65 min, P < 0.001), and better patient and surgeon satisfaction (P < 0.001 for both). CONCLUSIONS: Nasopharyngeal airways are an excellent alternative to laryngeal mask airways in anaesthetizing patients undergoing four-lid blepharoplasty surgery, with shorter recovery time, less incidence of postoperative sore throat and better patients' and surgeon's satisfaction.

Propofol-ketamine versus dexmedetomidine-ketamine for sedation during upper gastrointestinal endoscopy in pediatric patients: a randomized clinical trial / Propofol­cetamina versus dexmedetomidina­cetamina para sedação durante endoscopia digestiva alta em pacientes pediátricos: estudo clínico randomizado

Abstract Background and objectives Day-case pediatric sedation is challenging. Dexmedetomidine is a sedative analgesic that does not induce respiratory depression. We compared dexmedetomidine to propofol when it was added to ketamine for sedation during pediatric endoscopy, regarding recovery time and hemodynamic changes. Methods We enrolled 120 patients (2−7 years in age) and randomly assigned them into two groups. Each patient received intravenous (IV) ketamine at a dose of 1 mg.kg-1 in addition to either propofol (1 mg.kg-1) or dexmedetomidine (0.5 µg.kg-1). The recovery time was compared. Hemodynamics, oxygen saturation, need for additional doses, postoperative complications and endoscopist satisfaction were monitored. Results There was no significant difference in hemodynamics between the groups. The Propofol-Ketamine (P-K) group showed significantly shorter recovery times than the Dexmedetomidine-Ketamine (D-K) group (21.25 and 29.75 minutes, respectively, p < 0.001). The P-K group showed more oxygen desaturation. Eleven and 6 patients experienced SpO2 < 92% in groups P-K and D-K, respectively. A significant difference was noted regarding the need for additional doses; 10% of patients in the D-K group needed one extra dose, and 5% needed two extra doses, compared to 25% and 20% in the P-K group, respectively (p = 0.001). The P-K group showed less post-procedure nausea and vomiting. No statistically significant difference between both groups regarding endoscopist satisfaction. Conclusions The P-K combination was associated with a shorter recovery time in pediatric upper gastrointestinal endoscopy, while the D-K combination showed less need for additional doses. Registration number Clinical trials.gov (NCT02863861).

Resumo Justificativa e objetivos A sedação ambulatorial pediátrica é um desafio. A dexmedetomidina é um analgésico sedativo que não induz à depressão respiratória. Comparamos a dexmedetomidina ao propofol quando associados à cetamina para sedação durante endoscopia pediátrica, quanto ao tempo de recuperação e às alterações hemodinâmicas. Métodos Foram recrutados 120 pacientes (2−7 anos de idade) que foram aleatoriamente alocados em dois grupos. Cada paciente recebeu cetamina IV na dose de 1 mg.kg‐1, além de propofol (1 mg.kg‐1) ou dexmedetomidina (0,5 µg.kg‐1). Comparamos o tempo de recuperação. A hemodinâmica, saturação de oxigênio, necessidade de doses adicionais, complicações pós‐operatórias e satisfação do endoscopista foram monitoradas. Resultados Não houve diferença significante entre os grupos no que diz respeito à hemodinâmica. O grupo Propofol‐Cetamina (P‐C) apresentou tempos de recuperação significantemente mais curtos do que o grupo Dexmedetomidina‐Cetamina (D‐C) (21,25 e 29,75 minutos respectivamente, p < 0,001). Observou‐se frequência maior de dessaturação de oxigênio no grupo P‐C. Onze e 6 pacientes apresentaram SpO2 < 92% nos grupos P‐C e D‐C, respectivamente. Uma diferença significante foi observada em relação à necessidade de doses adicionais; 10% dos pacientes no grupo D‐C precisaram de uma dose extra e 5% precisaram de duas doses extras, em comparação com 25% e 20% no grupo P‐C, respectivamente (p = 0,001). O grupo P‐C apresentou menos náuseas e vômitos após o procedimento. Não houve diferença estatisticamente significante entre os dois grupos em relação à satisfação do endoscopista. Conclusões A combinação P‐C foi associada a tempo mais curto de recuperação na endoscopia digestiva alta pediátrica, enquanto a combinação D‐C mostrou menor necessidade de doses adicionais. Número de registro Clinical trials.gov (NCT02863861).

MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.

MPI-CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato-gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms. Analysis of carbohydrate deficient transferrin (CDT) showed a Type 1 pattern and molecular analysis confirmed the diagnosis of MPI-CDG. Oral mannose therapy was markedly effective in one patient but was only partially effective in the other who showed progressive portal hypertension.

Causes of secondary non-alcoholic fatty liver disease in non-obese children below 10 years.

This study aimed to detect etiologies and histopathological features of non-alcoholic fatty liver disease (NAFLD) in Egyptian children < 10 years from hepatologist perspectives. Infants and children below 10 years of age with biopsy-proven fatty liver over a 6-year period were included. NAFLD activity score was used to detect the presence of non-alcoholic steatohepatitis (NASH). The study included 66 cases whose age ranged between 5 months and 10 years. Transaminases were elevated in 60% patients. Glycogen storage disease (GSD) was the most common diagnosis (33.3%) followed by hepatitis C virus (HCV) (10.6%) and Chanarin-Dorfman syndrome (CDS) (9.1%). The cause of steatosis could not be identified in 28.8% of cases. There was a higher prevalence of secondary causes of NAFLD in patients < 10 years. Liver histopathological examination revealed preserved lobular architecture in 75.7% with minimal-to-mild fibrosis in 79%. Steatosis was macrovesicular in all specimens (severe steatosis in 39.4%). Four patients had NASH. Higher degree of steatosis was associated with more severe fibrosis (P = 0.01).Conclusion: GSD was the commonest cause of secondary NAFLD in Egyptian children < 10 years followed by HCV and CDS with higher degrees of steatosis in younger patients. The degree of fibrosis was significantly related to the degree of steatosis.What is Known:• Primary non-alcoholic fatty liver disease (NAFLD) is rare in children aged less than 10 years.• Secondary causes of NAFLD should be considered in patients who do not have traditional risk factors.What is New:• Glycogen storage disease, hepatitis C virus, and Chanarin-Dorfman syndrome are the commonest causes of secondary NAFLD in Egyptian children (< 10 years) with higher degrees of steatosis in younger patients.• The degree of liver fibrosis is significantly related to the degree of steatosis.

Chanarin-Dorfman syndrome: A case report and review of the literature.

UNLABELLED: Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. CASE REPORT: A 3-year-old male presented to the Pediatric Hepatology Unit, Cairo University Children's Hospital, Cairo, Egypt, with accidentally discovered hepatomegaly. He had generalised ichthyosis with dark skin pigmentation and bilateral ectropion. Abdominal examination revealed generalised abdominal distention with firm nontender hepatomegaly. His liver functions were deranged. Blood film showed many vacuolated neutrophils. Serum triglyceride and creatine kinase levels were elevated. Abdominal ultrasound showed a moderately enlarged liver with a bright echo pattern. Liver biopsy revealed marked diffuse macrovesicular fatty changes. The diagnosis of Chanarin-Dorfman Syndrome was made based on the dermatological, haematological, and liver biopsy findings.

Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.

BACKGROUND AND STUDY AIMS: Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability. PATIENTS AND METHODS: We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology Unit, Cairo University, Egypt. RESULTS: Eighteen patients (58%) were males. Their ages ranged between 6 months to 12 years. The main presenting complaint was progressive abdominal distention in 55%. Twelve patients (38.7%) had a history of recurrent attacks of convulsions; four had an erroneous diagnosis of hypocalcaemia and epilepsy. Doll-like facies was noted in 90%. Abdominal examination of all cases revealed abdominal distention and soft hepatomegaly which had bright echogenicity by ultrasound. Hypertriglyceridaemia was present in 93.6%, hyperlactacidaemia in 51.6% and hyperuricaemia in 19.4%. Liver biopsy showed markedly distended hepatocytes with well distinct cytoplasmic boundaries and 32% had macrovesicular fatty changes. Serum creatine kinase was elevated in 64.6% of patients and correlated positively and significantly with age (r=0.7 and P=<0.001), while serum triglycerides correlated negatively with age (r=-0.4 and P=0.05). CONCLUSION: Blood glucose assessment and search for hepatomegaly in an infant with recurrent seizures may prevent delay in the diagnosis. A huge soft liver reaching the left midclavicular line that appears echogenic on ultrasonography is characteristic of GSD III. A distended hepatocyte with rarified cytoplasm is pathognomonic but not diagnostic. Hypertriglyceridaemia correlates negatively with age, in contrary to CK level.

Safety and efficacy of Hansenula-derived PEGylated-interferon alpha-2a and ribavirin combination in chronic hepatitis C Egyptian children.

AIM: To investigate the safety and efficacy of a Hansenula-derived PEGylated (polyethylene glycol) interferon (IFN)-alpha-2a (Reiferon Retard) plus ribavirin customized regimen in treatment-naïve and previously treated (non-responders and relapsers) Egyptian children with chronic hepatitis C infection. METHODS: Forty-six children with chronic hepatitis C virus (HCV) infection were selected from three tertiary pediatric hepatology centers. Clinical and laboratory evaluations were undertaken. Quantitative polymerase chain reaction (PCR) for HCV-RNA was performed before starting treatment, and again at 4, 12, 24, 48, 72 wk during treatment and 6 mo after treatment cessation. All patients were assigned to receive a weekly subcutaneous injection of PEG-IFN-alpha-2a plus daily oral ribavirin for 12 wk. Thirty-four patients were treatment-naïve and 12 had a previous treatment trial. Patients were then divided according to PCR results into two groups. Group I included patients who continued treatment on a weekly basis (7-d schedule), while group II included patients who continued treatment on a 5-d schedule. Patients from either group who were PCR-negative at week 48, but had at least one PCR-positive test during therapy, were assigned to have an extended treatment course up to 72 wk. The occurrence of adverse effects was assessed during treatment and follow up. The study was registered at www.ClinicalTrials.gov (NCT02027493). RESULTS: Only 11 out of 46 (23.9%) patients showed a sustained virological response (SVR), two patients were responders at the end of treatment; however, they were lost to follow up at 6 mo post treatment. Breakthrough was seen in 18 (39.1%) patients, one patient (2.17%) showed relapse and 14 (30.4%) were non-responders. Male gender, short duration of infection, low viral load, mild activity, and mild fibrosis were the factors related to a better response. On the other hand, patients with high viral load and absence of fibrosis failed to respond to treatment. Before treatment, liver transaminases were elevated. After commencing treatment, they were normalized in all patients at week 4 and were maintained normal in responders till the end of treatment, while they increased again significantly in non-responders (P = 0.007 and 0.003 at week 24 and 72 respectively). The 5-d schedule did not affect the response rate (1/17 had SVR). Treatment duration (whether 48 wk or extended course to 72 wk) gave similar response rates (9/36 vs 2/8 respectively; P = 0.49). Type of previous treatment (short acting IFN vs PEG-IFN) did not affect the response to retreatment. On the other hand, SVR was significantly higher in previous relapsers than in previous non-responders (P = 0.039). Only mild reversible adverse effects were observed and children tolerated the treatment well. CONCLUSION: Reiferon Retard plus ribavirin combined therapy was safe. Our customized regimen did not influence SVR rates. Further trials on larger numbers of patients are warranted.

Predictive accuracy of serum hyaluronic acid as a non-invasive marker of fibrosis in a cohort of multi-transfused Egyptian children with ß-thalassaemia major.

BACKGROUND AND STUDY AIM: Liver disease remains a major cause of morbidity and mortality in patients with ß-thalassaemia major (ß-TM); therefore, its identification at an early stage is of great significance. Serum hyaluronic acid (HA) is considered as a non-invasive marker that appears early before pathological changes occur. We aim to determine the predictive accuracy of HA in detecting and staging hepatic fibrosis in ß-TM patients. PATIENTS AND METHODS: 30 Egyptian children with ß-TM, and 15 age and sex-matched controls were studied. All had abdominal ultrasonography (US), measurement of serum amino-transferases (ALT, AST); hepatitis C, B and human immunodeficiency viruses (HCV, HBV, HIV) sero-markers, serum ferritin and HA. Liver biopsy was done for patients and fibrosis was scaled using Metavir scoring system and liver iron concentration (LIC) was measured. RESULTS: Twenty patients (67.7%) had sero-markers of HCV, none had HBV or HIV. Serum HA was significantly higher in patients (90.78±28.79 ng/ml) compared to controls (21.1±13.24 ng/ml) with p<0.05. No difference between HCV infected and non-infected patients was detected. Positive significant correlation was detected between serum HA and stages of fibrosis by histopathology and US. No correlation was found between serum HA and age, sex, weight, height, haemoglobin level, platelet count, AST, serum ferritin, necro-inflammatory grade, and LIC. CONCLUSIONS: Serum HA is a valuable non-invasive marker that may contribute to the assessment of liver fibrosis in multi-transfused children and adolescents with ß-TM, irrespective of concomitant HCV infection.

Patterns of hepatitis B infection in Egyptian children in the era of obligatory hepatitis B vaccination.

BACKGROUND AND STUDY AIMS: Mass compulsory HBV vaccination was applied in Egypt in 1992. The first dose of vaccine is administered at 2 months of age and routine screening of pregnant women for HBsAg is not applied. We aimed to evaluate the pattern of HBV infections after the implementation of HBV vaccination in Egyptian children. PATIENTS AND METHODS: Fifty-six children with HBV infection presented to the Paediatric Hepatology Unit, Cairo University Children's Hospital, over the period from 1992 to 2006. Their data were reviewed for risk factors, clinical, serological and histopathological profiles. These cases were followed-up for 6.3 ± 3.4 years. The data of those born before 1993 (did not receive HBV vaccine) (group I) was compared to those who received the vaccine (group II). RESULTS: Sixty percent of HBV infected cases were born before 1993. Comparison of data of both groups revealed: (1) A significant younger age of onset in group II (3.34 ± 3.31 years vs. 9.84 + 2.95 years; p ≤ 0.01). (2) Vertical transmission was a significant risk factor in group II. (3) Chronic hepatitis developed in almost half of cases in both groups but cirrhosis was diagnosed only in 4 cases (all from group I) (p=0.04). CONCLUSION: Vertically transmitted HBV infection is becoming an important risk factor for acquisition of HBV among children born after the era of mass vaccination in Egypt. Mass screening for HBsAg of pregnant Egyptian women and/or giving a birth dose of HBV vaccine is becoming mandatory with the increased incidence of vertical transmission.

The association of HLA class II DR B1 alleles with HCV infection in Egyptian children.

BACKGROUND AND STUDY AIMS: Human leucocyte antigens (HLA) class II appear to play an important role in the individual's immune response to viral infection. The aim of this study is to assess the relationship between HLA class II antigens with the clinical, laboratory and histopathological state of the liver in Egyptian children and adolescents with chronic hepatitis C virus (HCV) infection. PATIENTS AND METHODS: The study included 46 chronically infected HCV children and adolescents without - hepatitis B virus (HBV) nor human immunodeficiency virus - (HIV). Their mean age was 10.4±4.23years (3-17). HLA-DRB typing was done by polymerase chain reaction (PCR) for the patients and 20 control subjects. Biochemical and haematological parameters were assessed as well as a liver biopsy was taken from the included patients. RESULTS: The most frequent alleles demonstrated among patients were DRB1∗03, DRB1∗04 and DRB1∗13 (45.6%, 39.1% and 26.1%), respectively. Analysis of DRB1 frequencies between patients and control revealed that DRB1*15 is significantly reduced among patients when compared with the control group (p<0.01). Patients possessing the allele DRB1*03 had significantly reduced platelet count (p=0.03), and this allele was presented to a greater extent in patients with minimal grade of inflammation. Patients with DRB1*04 had significantly low serum albumin (p=0.04) and patients with DRB1*13 had significantly high serum aspartate aminotransferase (AST) levels (p=0.05). CONCLUSION: In Egyptian HCV-infected children, special HLA patterns were found; HLA DRB1*03 was present in nearly half of the patients, while the frequency of HLA DRB1*15 was significantly reduced among the cases in comparison to the control subjects.

Predictors of non-alcoholic fatty liver disease in obese and overweight Egyptian children: single center study.

BACKGROUND/AIM: Pediatric non-alcoholic fatty liver disease (NAFLD) is a global problem which has been increasingly recognized with the dramatic rise in pediatric obesity. The aim of the present study was to identify the clinical, sonographic, and biochemical predictors for NAFLD in obese children. MATERIALS AND METHODS: Seventy-six children (2-15 years) were included after an informed consent. All were subjected to full anthropometric assessment (including height, weight, body mass index, subscapular skin fold thickness, waist and hip circumference and calculation of waist: hip ratio), biochemical assessment of liver function tests, lipid profile and insulin resistance and sonographic assessment of hepatic echogenicity. Liver biopsy when indicated, was done in 33 patients. RESULTS: Sixteen patients (21%) had elevated ALT and 6 (7.9%) had elevated AST. Significant dyslipidemia (low HDL-c, high total cholesterol, high LDL-c and triglycerides) and higher insulin resistance were found in obese patients (P<0.01). The main sonographic findings were hepatomegaly in 20 patients (26.3%) and echogenic liver in 41 patients (53.9%). Liver biopsy showed simple steatosis in eight cases (24.2%) and non-alcoholic steatohepatitis (NASH) in seven cases (21.2%). Anthropometric measurements, increased hepatic echogenicty by ultrasound, insulin resistance and lipid profile were good predictors of NAFLD in obese children if assessed together. However, LDL-c was the only sensitive predictor (independent variable) for NAFLD in both uni- and multivariate logistic regression analyses. CONCLUSION: Dyslipidemia per se is a strong predictor of NAFLD among obese Egyptian children.

Alagille syndrome: clinical and ocular pathognomonic features.

PURPOSE: This study was carried out to determine the frequency of clinical diagnostic criteria in patients with Alagille syndrome (AGS) in comparison to a group of children with cholestasis and histologically proven neonatal hepatitis (NH). The type and frequency of ocular manifestations are highlighted. METHODS: According to histologic findings on liver biopsy, the 32 patients included in the study were classified into 2 groups: group 1 had paucity of interlobular bile ducts (PILBD) (n=13) and at least 3 of 5 characteristics of AGS and group 2 had NH on liver biopsy (n=19). RESULTS: The mean age of patients with AGS was higher than in group 2 (3.9 vs 1.6 years) (p<0.05). Pruritus was a significant symptom in the AGS group (p<0.05). Characteristic facies was detected in 61.5% of the AGS group. None of our patients with AGS had vertebral anomalies. Although cardiac murmurs were heard in 5 patients with AGS, cardiac anomalies were detected in only 3 by echocardiography: pulmonary stenosis in 2 patients and patent foramen ovale in 1. Posterior embryotoxon (PE) was detected in 69.2% of patients with AGS as compared to 10.5% of the NH group. Optic nerve drusen was detected in 91% of patients with AGS as compared to 5.3% of patients with NH. CONCLUSIONS: Optic nerve drusen was the most common finding in AGS, followed by PE and facial features. Ocular ultrasound needs to be performed in all cholestatic infants with PILBD.

Noninvasive assessment of hepatic fibrosis and necroinflammatory activity in Egyptian children with chronic hepatitis C virus infection using FibroTest and ActiTest.

BACKGROUND: Hepatitis C virus (HCV) is a major cause of chronic hepatitis and hepatic fibrosis. Liver biopsy, because of its limitations and risks, might be considered an imperfect gold standard for assessing the severity of chronic liver diseases. In this study, we aimed to prospectively validate FibroTest (FT) and ActiTest (AT) as noninvasive serum biochemical markers for assessment of the degree of hepatic fibrosis and necroinflammatory activity respectively, in pediatric patients with chronic HCV infection and compare them to liver biopsy. METHODS: Fifty patients, aged 2 to 18 years, with chronic HCV infection were prospectively enrolled. Two assessments were carried out, within 24-h duration, one of a liver biopsy specimen and the other FT and AT measured in serum sample. FINDINGS: A highly significant linear trend and correlation were found between FT-related fibrosis and fibrosis stage by METAVIR scoring on histopathological examination. A highly significant correlation was also found between AT and necroinflammatory histological activity using METAVIR as well. The FT area under the receiver operating characteristic curve (AUROC) is 0.97, SE=0.02 which can diagnose patients with mild stage of fibrosis, thus discriminating them from those with no (or minimal) fibrosis. The AT can successfully discriminate between patients with moderate activity and those with mild activity with AUROC=0.93, SE=0.06. CONCLUSION: FT and AT are potential noninvasive methods for assessment of hepatic fibrosis and necroinflammatory activity in pediatric patients with chronic HCV infection in comparison with liver biopsy.

Skin iron concentration: a simple, highly sensitive method for iron stores evaluation in thalassemia patients.

Iron overload is a potentially fatal complication in thalassemia patients. Accurate assessment of body iron is of utmost importance for these patients. The available methods for iron stores evaluation have limitations. We assessed biochemically the skin iron concentration (SIC) and determined the relation between the hepatic and skin iron level in thalassemia major patients to develop a simple, sensitive, quantitative measure of the body iron stores. Thirty-one cases with thalassemia major were assessed for iron overload. Liver and skin biopsies were performed for the patients and skin biopsies were taken from the 31 controls. The biopsies were subjected to biochemical assay of iron and histologic sections were examined. The SIC of the studied cases was significantly higher than that of the control group with a mean of 2.705 +/- 1.14 and 0.275 +/- 0.13 mg/g dry skin weight, respectively, p < 0.001. There was significant correlation between the SIC and the liver iron concentration (LIC) (r = 0.43, p = 0.01). The amount of liver iron is equivalent to [(3.5 x SIC) + 12.9]. With the use of this equation, we could reliably estimate an LIC value as high as 21.2 mg/g dry liver weight with a standard error of 4.07. Biochemical assay of the skin iron concentration is a reliable quantitative indicator of the body iron stores in patients with thalassemia major.