Blind percutaneous liver biopsy in infants and children: comparison of safety and efficacy of percussion technique and ultrasound assisted technique

Background and study aims: Liver biopsy remains the most reliable method to diagnose various hepatic disorders in children. We aimed to assess the technical success and complication rate of ultrasound [US] assisted percutaneous liver biopsy versus transthoracic percussion guided technique in paediatrics

Patients and methods: This randomized controlled study included all cases performing liver biopsy at Paediatric Hepatology Unit, Cairo University Paediatric Hospital over 12 months

Results: Patients were 102 cases; 62 were males, with age range 18 days to 12 years. Fifty seven procedures were done using the percussion guided technique and 45 cases were US assisted. The total number of complicated biopsies was 14 [13.7%], with more serious complications occurring in the percussion group. Complications were more frequent with younger age, lower platelet count, number of passes and occurrence of hypotension

Conclusion: US assisted percutaneous liver biopsy, although more costly, but may be safer to perform particularly in younger age

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

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

Gene mutations in Wilson disease in Egyptian children: report on two novel mutations

Wilson disease [WD] is an autosomal recessive disorder, caused by defects in copper-transporting P-type adenosine triphosphatase [ATPase] encoded by the ATP7B gene, resulting in the deposition of copper in the liver and brain with significant disability or death if left untreated. An available regimen of treatment gives hope to those predisposed to the disease if diagnosed early. The objective of this study was to determine the frequency of the most common European mutation [p.H1069Q] in Egyptian children with WD, in addition to screening for previously reported mutations in the Egyptian patients in our selected group. Direct DNA sequencing was applied to exons [13, 14, 18, and 19] of the ATP7B gene for 19 patients previously diagnosed with WD. Then DNA sequencing and pedigree analysis were performed in the families of the patients showing variations in their results for the purpose of family screening and carrier detection. Six out of 19 patients were studied with their families [three families]. We identified five variants of which two were novel among the studied patients. One of the novel variants was synonymous substitution [p.A1074A] in 16% of patients and the other was predicted to be missense disease-causing mutations [p.T1076I] in 16% of patients, and three previously published mutations p.H1069Q were detected in 5% of patients, p.P1273Q in 10% of patients, and a silent variant p.A1003A in 26% of patients. Screening for the two exons 14 and 18 of the ATP7B gene is important in Egyptian patients especially in suspected patients without hepatic manifestations

Cervical colonization with actinomyces in women using intrauterine contraceptive devices

Intrauterine contraceptive device [IUCD] was found to promote colonization by actinomyces species. The presence of cervical actinomyces colonization was verified by using direct endocervical smears stained by simple gram stain, it was found among 10% of long term IUCD users. By using culture on brain heart infusion blood agar containing 2.5 mg/L metronidazole, anaerobically incubated for a fortnight, the prevalence was 2% of long term IUCD users. The removed loops of these two cases were positive. Actinomyces was not detected among short term IUCD users. No statistical significant difference between negative, positive and control cases in age, parity and duration of marriage, however the frequency of sexual intercourse was an important which affected the colonization of the cervix with actinomyces species. Though most of the cases with positive actinomyces were asymptomatic, it seems wise enough to overcome this colonization by frequent change of IUCD and not allowing them to st and in utero for long periods

Pulmonary aspergillosis in chronic lung cavitary diseases

In this study, only one positive culture for Aspergillus fumigatus [1%] was detected, while the incidence of A. niger and A. flavus were 13% and 5%, respectively. Hemagglutination test showed a significant titer [1/320] in only 12 patients by using counter immunoelectrophoresis, serum of only one patient [1%] showed positive precepitation reaction against A. fumigatus antigen. None of these isolated aspergillus species showed a significant correlation with the underlying lung lesions [transient pulmonary aspergillus saprophytes] except A. fumigatus in one case suggesting aspergilloma. This type of A. fumigatus was found only in bronchoalveolar wash. However, clinical or histological diagnosis of any case of aspergilloma has never been confirmed. Therefore, this case of aspergilloma should be considered the first published Egyptian case. The proper diagnosis of such case and pulmonary aspergillosis still depends on competent mycological laboratory studies of patient's serum and bronchoalveolar wash samples. Surgical resection of aspergilloma affecting a lung lobe was the only way to save the patient from repeated hemoptysis attacks or other chest complications

Changes in the microbial flora of the external auditory canal in hospitalised patients treated with systemic antibiotics

This work was carried out on 150 subjects divided into three groups: Group A [100 hospitalized patients receiving antibiotic therapy for more than 10 days], group B [25 hospitalized patients who did not receive antibiotics for the past 30 days] and group C [25 non hospitalized persons receiving no antibiotics for at least the past 30 days]. Groups B and C act as controls. Cultures from both external auditory canals were collected, cultured and examined. Results revealed that antibiotic is the major factor determining the colonization of group A with Gram-negative bacilli and fungi. The isolated Gram-negative bacilli may play a role in suppurative ear disease

Incidence of candida species in thrush stomatitis and their sensitivity to new antifungal drugs

Oral thrush is one of the commonest mycosis in health as well as in debilitated infants and children, especially in those receiving antibiotics or immunosuppressive drugs. Candida albicans is the commonest causative agent. Treatment of this infection is still difficult. Recently, several antifungal drugs were introduced, which were studied on 300 patients in the age group of birth up to 5 years with thrush stomatitis. From each patient, two swabs were obtained; one for culture of Candida species and the other for microscopic examiniation for the presence of yeast cells. The isolated yeast colonies were further identified. One hundred strains of candida isolated from cases with thrush stomatitis were tested for their sensitivity to six antifungal drugs using the disc diffusion method. Although nystatin was proved to be the drug of choice, yet it is only for topical use. So, other systemic drugs should be given