A New Perspective on the Quality of Life of Children with Glycogen Storage Diseases / 대한소아소화기영양학회지

Purpose@#This study aimed to assess the quality of life (QoL) of children with glycogen storage disease (GSD) and their parents and to determine the impact of myopathies. @*Methods@#A prospective case-control study was conducted at the Cairo University Children’s Hospital and National Liver Institute, Menoufia University. A promising new style of questionnaire called the Stark Quality of Life Questionnaire was used to assess the quality of life. @*Results@#Fifty-two children diagnosed with GSD (cases) and 55 age- and sex-matched healthy children (controls) were included. A statistically significant difference was found between cases and controls regarding food intake; mental behavior parameters such as mood, energy, and social contact; and physical behavior parameters such as running and tying shoelaces. Children with myopathies had significantly lower QoL scores in most of the parameters. @*Conclusion@#GSDs alter children and their parents’ mental and physical abilities. Lower QoL scores were detected in children with both skeletal myopathy and cardiomyopathy, but the difference was not statistically significant when compared with the children without myopathies.

clinical study of Wilson's disease: the experience of a single Egyptian paediatric hepatology unit

Most paediatric patients with Wilson's disease [WD] present with hepatic manifestations, but some may have neurologic or psychiatric features. Our aim was to define the clinical, biochemical features and the outcome of therapy of a group of Egyptian children diagnosed with WD. The study was carried out at the Paediatric Hepatology Unit at Cairo University Children's Hospital, Egypt; 54 patients were diagnosed with WD from 1996 to 2009. The diagnosis was based on low serum ceruloplasmin levels, increased urinary copper concentrations before or after D-penicillamine challenge and/or the presence of Kayser-Fleischer [K-F] rings. The clinical presentation was as follows: hepatic presentation in 33 patients [61%], hepato-neurologic 3 [5.5%], neurologic 5 [9.3%] and presymptomatic 13 [24%]. Twelve couples had more than one affected sib. Increased urinary copper concentrations before or after D-penicillamine challenge was found in all patients, low serum ceruloplasmin in 97% and K-F rings in 31.5%. All patients were treated with penicillamine and zinc sulphate except one presymptomatic case who was treated with zinc sulphate only. Three patients underwent liver transplantation and eight patients died after a median duration of treatment of 6 months [1-36]. The hepatic symptoms improved with treatment but the neurological symptoms remained stationary. Clinical and biochemical assays remain the standard for diagnosis of WD. Penicillamine and zinc therapy can effectively treat WD with hepatic symptoms. Liver transplantation remains life saving for those with fulminant and end stage WD. Screening for presymptomatic sibs is of utmost importance

Tropical liver diseases in Egyptian children

Each tropical region has its own spectrum of liver disease. In Egyptian children, this has yet to be defined. In an effort for such definition, we enrolled 516 biopsy-proven patients with chronic liver disease in a follow up study spanning over 3 years to diagnose tropical liver diseases in them and encountered 37 [7.2%] patients with hepatosplenic schistosomiasis, 32 [6.2%] with hepatic venoocclusive disease, 6 [1.2%] with hepatic fascioliasis, 2 [0.4%] with amoebic liver abscess and 2 [0.4%] with visceral leishnianiasis. Their clinicopathologic criteria were identified in an effort to clarify the natural history of tropical liver disease in our region

Incidence and characteristics of rotavirus gastroenteritis at Bakhsh hospital: an interim report

Rotavirus infection is becoming the leading cause of acute gastroenteritis in developing countries, especially with improving control of bacterial pathogens. Since June 1987 we tested the stools of 38 infants and children presenting with watery diarrhea for rotavirus antigen using the Rotazyme 11 Kit [enzyme immunoassay] from Abbot, and Slidex Rota Kit [sensitized latex] from Biomerieux. Twenty patients had positive stool reactions [incidence of 76%]. The age in the positive group ranged from 5 to 45 [median 13] months. Twenty one of these were clinically dehydrated and 12 had a rectal temprature >/= 38.5°C. Eighteen patients had leukocytosis with or without left shift and toxic granulation of polymorphs, and 24 also had acid-base and/or electrolyte imbalance. These clinical and laboratory characteristics were not significantly different in the group with negative stool reaction. From this limited study we recommend routine testing of stools for rotavirus antigens in infants and children with watery diarrhea and not to rely on clinical or indirect laboratory criteria for diagnosis and estimation of this major paediatric health problem

Prevalence and diagnosis of rotavirus gastroenteritis [GE] among a private hospital paediatric population

Rotaviruses are now well-established as the leading cause of acute gastroenteritis [GE] in infants and young children throughout the world [Kapikian et al, 1976], but reports of this infection in higher socioeconomic classes in developing countries are scarce. Working at a private hospital in Jeddah, we are privileged to serve a population belonging almost entirely to social classes I, II and III, among whom this study was conducted. Between June 1987 and November 1988, 54 pediatric patients admitted with watery diarrhea had their stools tested for rotavirus antigen by enzyme immune assay [Rotazyme Kit ll, Abbott] or sensitized latex [Slidex Rota Kit, Bio Merieux]. Forty patients had positive stool reaction: seven were from social class I, 18 from class ll, and 15 from class Ill. Twenty two rotavirus patients presented in the "cold" months of the year, and house hold contacts were affected in three families. Rotavirus GE caused moderate to serve dehydration in 27 patients, fever >38.3 C [101 F] in 23, leukocytosis [WBC>10 [9]n] in 25 hyponatremia [serum Na <130 mmoI/L] in five, hypokalemia [serum K < 3 mmol/L] in three, and acidosis [plasma bicarbonate <18 mmol/L] in 34 patients. Such clinical and laboratory findings are not different from those reported with other viral or bacterial enteritides. In conclusion, rotavirus GE is a potentially serious and widely prevalent infection among the higher socioeconomic classes in Jeddah. Family contacts are at risk of infection. Clinical or laboratory features are not pathogenomonic and fecal assay for rotavirus antigen is the gold standard for diagnosis. Its control seems remote but might be achieved by the development of an effective vaccine