Abstract:
:Hunter syndrome (or Mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder due to the deficiency of the iduronate-2-sulfatase (IDS) enzyme, resulting in the accumulation of heparan and dermatan sulfates in the lysosomes. The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene. We report here, a novel nonsense mutation (p.Y54X) in two siblings MPS II African patients affected with a severe form of the disease. We postulated that the p.Y54X mutation which causes a loss of the IDS region highly conserved among sulfatase enzymes, could be predicted as a severe disease-causing mutation for Hunter syndrome.
journal_name
J Trop Pediatrjournal_title
Journal of tropical pediatricsauthors
Mutesa L,Muganga N,Lissens W,Boemer F,Schoos R,Pierquin G,Bours Vdoi
10.1093/tropej/fmm056subject
Has Abstractpub_date
2007-12-01 00:00:00pages
434-7issue
6eissn
0142-6338issn
1465-3664pii
fmm056journal_volume
53pub_type
杂志文章abstract::Brucellar meningitis is relatively uncommon, especially in children younger than 1 year. We present another case of meningitis due to Brucella melitensis biotype 1 in a 11-month-old infant transmitted by breast milk. This is the first report of successful isolation of B. melitensis from the breast milk in the literatu...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmn017
更新日期:2008-08-01 00:00:00
abstract::Hepatic functions of 61 children, diagnosed to have dengue infection (DI), aged 2 months to 12 years comprising 37 cases of dengue fever (DF), 16 with dengue hemorrhagic fever (DHF), and eight with dengue shock syndrome (DSS) were prospectively studied during the acute attack. Hepatomegaly (74 per cent), epistaxis (26...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/46.1.40
更新日期:2000-02-01 00:00:00
abstract:INTRODUCTION:Antiretroviral therapeutic drug monitoring (TDM) is not routinely used in the management of human immunodeficiency virus, but may be useful in pediatric patients who are prone to altered pharmacokinetics. Data on the routine use of antiretroviral TDM in pediatrics are sparse especially data from sub-Sahara...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmz077
更新日期:2020-08-01 00:00:00
abstract::Cardiac complications of 32 children with scorpion envenomation, during a 1-year period from August 1990 to August 1991 were studied. Sixteen children (50 per cent) were diagnosed as having myocarditis; of these in four children the presentation was subclinical. ECG changes were seen in 63 per cent of children envenom...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/41.6.338
更新日期:1995-12-01 00:00:00
abstract::The relationship between total bilirubin binding capacity (TBBC) and clinical status was investigated in order to assess the risk of bilirubin toxicity in 83 infants with jaundice in this study. Infants with respiratory distress, acidosis, hypoglycaemia, sepsis, asphyxia-anoxia and hypercarbia were accepted as ill and...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/42.1.43
更新日期:1996-02-01 00:00:00
abstract::This is a descriptive study of short-course chemotherapy in children with nodal tuberculosis at Port Moresby General Hospital (PMGH). Between 1 August 1989 and 31 December 1997 5248 children were started on TB treatment. In the retrospective study 427 children were treated for lymph node TB up to 31 December 1996. Of ...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/47.3.160
更新日期:2001-06-01 00:00:00
abstract::Tests for renal function were performed in 75 smear positive children with acute malaria together with 10 control children. Plasmodium vivax and Plasmodium falciparum accounted for 52 and 46 per cent cases, respectively. Renal impairment in the form of decreased endogenous creatine clearance (less than 65 ml/min/m2) w...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/35.6.291
更新日期:1989-12-01 00:00:00
abstract:Objective:To estimate the prevalence and effects of sepsis-induced myocardial dysfunction (SIMD) in children with septic shock. Methodology:Enrolled children with septic shock (n = 31) and sepsis (n = 30) underwent echocardiography and cardiac troponin-I (cTnI) estimation within first 3 h. SIMD was defined as presence...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmx105
更新日期:2018-12-01 00:00:00
abstract::The aim of this prospective, randomized and controlled study was to compare the clinical efficacy of intravenous magnesium sulfate (MgSO₄) and oral sildenafil therapies with persistent pulmonary hypertension of the newborn. A total of 34 infants in the MgSO₄ group and 31 infants in the sildenafil group completed the s...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1093/tropej/fmq091
更新日期:2011-08-01 00:00:00
abstract:Objectives:To evaluate pediatric intensive care unit (PICU) needs, outcome and predictors of mortality in post-neonatal tetanus. Materials and methods:Review of 30 consecutive post-neonatal tetanus cases aged 1 months to 12 years admitted to a PICU in north India over a period of 10 years (January 2006 to December 201...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmx020
更新日期:2018-02-01 00:00:00
abstract::Preliminary to the development a new program supporting perinatal HIV prevention, this assessment was conducted to evaluate Vietnam's national prevention of mother-to-child HIV transmission (PMTCT) program by estimating HIV prevalence among prenatal women and analyzing the healthcare system capacity to deliver service...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1093/tropej/fmm112
更新日期:2008-08-01 00:00:00
abstract:OBJECTIVE:HIV-infected adolescents are a heterogeneous population; source of infection, immunodeficiency severity and antiretroviral (ARV) experience vary. Here, we describe youth followed in an observational study at Latin American sites of the NICHD International Site Development Initiative (NISDI). METHODS:The NISD...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmq068
更新日期:2011-06-01 00:00:00
abstract::Based on reports of parasite resistance and on World Health Organization recommendation, chloroquine was replaced with the artemisinin-based combination therapies (ACTs) as the first choice of drugs for the treatment of uncomplicated malaria. Disuse of chloroquine led to restoration of drug-sensitive parasite to some ...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmaa089
更新日期:2020-12-27 00:00:00
abstract::Diarrhoeal mortality and hospital admissions for diarrhoea are described among children under the age of 5 years in a large rural Bangladeshi community during 1986-87. Acute watery (dehydrating) diarrhoea was associated with 11 per cent of all deaths among infants aged 1-11 months and 5 per cent among children aged 1-...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/37.1.31
更新日期:1991-02-01 00:00:00
abstract::Very preterm babies, after their initial need for rigorous supports, remain in intensive care units for maintaining euthermia. We compared proportion of 'hypothermia OR hyperthermia episodes(HHE)'; physiological instability events; and weight gain in stable preterm babies between 29 and 32 weeks nursed in Cocoon warme...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1093/tropej/fmz025
更新日期:2020-02-01 00:00:00
abstract::beta-thalassaemia major, an autosomal recessive hemoglobinopathy, is one of the most common single gene disorders in multi-racial Malaysia. The control of beta-thalassaemia major requires a multi-disciplinary approach that includes population screening, genetic counselling, prenatal diagnosis and the option of termina...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmi052
更新日期:2005-12-01 00:00:00
abstract::We have compared intravenous magnesium sulphate vs. inhaled nitric oxide in the therapy of moderate persistent pulmonary hypertension of the neonate. A retrospective collection of clinical data from 58 neonates was carried out in six neonatal intensive care units of Southern Italy sharing the same operational protocol...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmm101
更新日期:2008-06-01 00:00:00
abstract::The association of Helicobacter pylori infection with recurrent abdominal pain (RAP) was studied in 65 children aged between 3 and 12 years. Cases with a specific cause for abdominal pain were excluded from the study. All the patients were subjected to upper gastrointestinal endoscopy and antral biopsy. The biopsy spe...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/49.4.250
更新日期:2003-08-01 00:00:00
abstract::Fasciolosis is a chronic parasitic disease caused by two species of liver trematodes, Fasciola hepatica and Fasciola gigantica, which infest ruminants and rarely humans. The disease is spread all over the world, but more common in Asia in areas with extensive livestock farming and can be imported cases in Europe and A...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmz043
更新日期:2020-04-01 00:00:00
abstract::Congenital Toxoplasma infection can only be discovered or prevented by the appropriate serological screening and subsequent treatment of the mother and her offspring. In Colombia, there is no obligatory Toxoplasma screening for pregnant women and both the reporting and follow-up of congenital toxoplasmosis cases is li...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmi072
更新日期:2006-04-01 00:00:00
abstract:Background:Heel prick is a frequent painful procedure in newborns. A lancet or a 26-gauge needle is used for a heel prick in India. Objective:To compare the pain caused by heel prick with a lancet or a 26-gauge needle in newborns admitted in the neonatal intensive care unit (NICU) using the preterm infant pain profile...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1093/tropej/fmw093
更新日期:2017-10-01 00:00:00
abstract:OBJECTIVE:To evaluate the importance of food supplementation as incentive in improving preantiretroviral therapy (pre-ART) adherence, and second its impact on health of HIV-infected children by a clinic-based observational study. METHODS:HIV-seropositive children aged between 2 and 12 years were followed-up sequential...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmr026
更新日期:2012-02-01 00:00:00
abstract:Background:The aim of the study was to assess the effect of early-onset neutropenia (EON) on the development of candidemia in premature infants and evaluate other risk factors. Materials and Methods:This prospective study was carried out in a neonatal intensive care unit of Cairo University Hospital. Fifty neutropenic...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmx029
更新日期:2018-02-01 00:00:00
abstract::Healthy children contacts of leprosy patients had their humoral and cell-mediated immunological status assessed using the Fluorescent Leprosy Antibody Absorption Technique (FLA-ABS) and the Lepromin test, respectively. Subsequently, they were followed up for 2 1/2 years to study the development of overt disease. Two-h...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/37.6.310
更新日期:1991-12-01 00:00:00
abstract:AIM:There is insufficient knowledge on the * duodenal histology and Helicobacter pylori infection in malnourished Bangladeshi children. Therefore, we attempted to explore the prevalence of H. pylori infection and duodenal histopathology in 2-year-old chronic malnourished Bangladeshi slum-dwelling children and investiga...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fmaa079
更新日期:2020-10-25 00:00:00
abstract::The present study describes the use of a home-based antenatal card in a sample of 120 consecutive women who were giving birth at a large teaching hospital in the city of León, Nicaragua. Information was obtained by interviews with the women before leaving hospital and all data on their antenatal cards and regarding de...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/40.3.133
更新日期:1994-06-01 00:00:00
abstract::Serum growth hormone (GH), cortisol, free thyroxine (FT4), thyroid-stimulating hormone (TSH), and insulin like growth factor I (IGF-I) concentrations were measured in 15 children with sickle cell disease (SCD) together with their heights < 5th percentile for age and gender, and in 15 healthy age-matched children who h...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/41.5.285
更新日期:1995-10-01 00:00:00
abstract::To reduce malnutrition and improve child survival, school feeding programmes have been established in many parts of Africa, although prevalence of child malnutrition and anaemia remains high, especially in urban slums. The objective of this study is to evaluate the effect of a school feeding programme in the slums of ...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/fms070
更新日期:2013-06-01 00:00:00
abstract::143 neonates were diagnosed to have acquired systemic candidiasis out of a total 4530 admissions (3.2 per cent) to the neonatal intensive care unit (NICU) during a period of 6 1/2 years from January 1990 to June 1996. Mean age at onset was 10.4 days, mean birth weight 1454 g, and mean gestation was 31.7 weeks. Ninety-...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/44.2.104
更新日期:1998-04-01 00:00:00
abstract::The aim of this study was to identify the reasons for hospitalization associated with abortion and pregnancy termination among women attending the Maternity Unit of IMIP, Recife, Brazil. In a case-control study, 230 women who were hospitalized consecutively between August 1994 and June 1995 due to causes related to pr...
journal_title:Journal of tropical pediatrics
pub_type: 杂志文章
doi:10.1093/tropej/45.1.31
更新日期:1999-02-01 00:00:00