Abstract：
BACKGROUND:Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients' survival is improved to a noticeable extent. OBJECTIVES:The purpose of this study is to examine the outcome of IOPD patients in South of Iran and the degree of responsiveness to ERT. PATIENTS AND METHODS:All patients who were diagnosed with IOPD on the bases of clinical symptoms, and enzyme assay on dried blood spot, were included in the study; and were followed up regarding cardiac function, locomotor activity, and cognition. RESULTS:Six patients with IOPD were identified. All these six patients suffered from Hypertrophic Cardiomyopathy (HCM). Four (67%) of them also had generalized hypotonia. Three patients expired during the first weeks due to severe respiratory infection. One of them also got involved with Acute Cardiopulmonary Failure while receiving the fifth dose of ERT; and expired. However, the remaining two patients had a significant improvement after the maximum of 117 weeks of following up both cardiac and locomotor findings. These two patients were the same patients who showed cardiac symptoms from the beginning but did not have generalized hypotonia. CONCLUSIONS:Although ERT has a significant effect on enhancing the survival of IOPD patients, it should be associated with meticulous heart-respiratory cares during the first months of treatment and preventing infection especially nosocomial infections.
journal_name
Iran J Pediatrjournal_title
Iranian journal of pediatricsauthors
Moravej H,Karamizadeh Z,Paran Mdoi
10.5812/ijp.4473subject
Has Abstractpub_date
2016-02-01 00:00:00pages
e4473issue
1eissn
2008-2142issn
2008-2150journal_volume
26pub_type
杂志文章abstract：:GENETIC DISORDERS ARE TRADITIONALLY CATEGORIZED INTO THREE MAIN GROUPS: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章,评审
doi：
更新日期：2013-08-01 00:00:00
abstract：OBJECTIVE:The objective of this randomized controlled trial was to compare the treatment failure of suspected early onset neonatal sepsis with either 3-day or 5-day course of empirical antibiotic therapy. METHODS:Infants with birth weight over 1500 g and/or gestational age over 34 weeks within 7 days postnatal age wit...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-12-01 00:00:00
abstract：CONTEXT:To assess the efficacy of preoperative chemotherapy in Wilms' tumor patients and explore its true value for specific subgroups. OBJECTIVES:In the presence of these controversies, a meta-analysis that examines the efficacy of preoperative chemotherapy in Wilms' tumor patients and specific subgroups is needed to...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.366
更新日期：2015-04-01 00:00:00
abstract：OBJECTIVE:The goal of this study was to evaluate the effect of protein energy malnutrition on protein glycosylation by investigating transferrin isoform pattern and its relationship to the degree of malnutrition and the biochemical markers of nutritional status in children. METHODS:Forty one children with mild (n=23) ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-06-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to compare the Persian version of the wechsler intelligence scale for children - fourth edition (WISC-IV) and cognitive assessment system (CAS) tests, to determine the correlation between their scales and to evaluate the probable concurrent validity of these tests in patients with le...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-04-01 00:00:00
abstract：BACKGROUND:Classic Pelizaeus-Merzbacher disease is a rare x-linked disorder of proteolipid protein expression first described clinically in 1885. This disease is characterized by abnormal eye movements, very slow motor development and involuntary movements. The causative gene is PLP1. CASE PRESENTATION:A 1-year-old bo...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2011-09-01 00:00:00
abstract：OBJECTIVE:There are some reports in which a condition of zinc deficiency and its associated outcomes with a change in concentration of serum copper among the thalassemic patients has been highlighted. The aim of this prospective study was to determine the serum zinc and copper levels in children with beta-thalassemia m...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2010-09-01 00:00:00
abstract：OBJECTIVE:It is believed that fingerprints and palm patterns may represent genetically determined congenital abnormalities in Cystic Fibrosis (CF). The main idea of this paper was to determine differences of fingerprints and palm patterns in CF and normal children. METHODS:Forty-six CF children (27 males, 19 females) ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-10-01 00:00:00
abstract：BACKGROUND:Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder. CASE(S) PRESENTATION:We present various manifestati...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2010-03-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to evaluate the bilirubin albumin (B/A) ratio in comparison with total serum bilirubin (TSB) for predicting acute bilirubin-induced neurologic dysfunction (BIND). METHODS:Fifty two term and near term neonates requiring phototherapy and exchange transfusion for severe hyperbilirubine...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-03-01 00:00:00
abstract：OBJECTIVE:Epilepsy is a most common serious neurological disorder and is one of the world's most prevalent non-communicable diseases. The aim of this study was to determine the prevalence and risk factors of epilepsy in 0-17 year old children in Trabzon, Turkey. METHODS:A cross-sectional epidemiological investigation ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-09-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to examine the differences in the health related quality of life and the self care and social function in daily life of children with different disabilities. METHODS:One hundred and two children with physical, emotional and cognitive disabilities (cerebral palsy, mental retardation,...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-06-01 00:00:00
abstract：OBJECTIVE:To analyze the clinical and radiological features of paragonimiasis in children and raise the awareness of this disease. METHODS:A total of 58 paragonimiasis patients were reviewed. They were 42 boys and 16 girls aged 2.0 to 15.3 years. FINDINGS:Among these patients, 20 were diagnosed in the recent 5 years,...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-12-01 00:00:00
abstract：OBJECTIVE:Cyanotic congenital heart diseases (CCHDs) are a series of cardiac anomalies that have long been recognized as a potential cause of nephropathy. There have been few reports on renal impairment in patients with CCHD before and after corrective cardiac surgery. The aim of this study was to evaluate the prevalen...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-02-01 00:00:00
abstract：OBJECTIVE:Urinary tract infection (UTI) is one of the most common causes of febrile pediatric diseases. Also, vesicoureteral reflux (VUR) is a significant risk factor for UTI. Voiding cystourethrography (VCUG) is the method of choice for evaluation of VUR. This study was done to predict VUR by DMSA scan (technetium 99 ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-03-01 00:00:00
abstract：OBJECTIVE:The aim of the study was the evaluation of patients treated with a diagnosis of gastroschisis and to establish the factors which affected the morbidity and mortality. METHODS:Twenty-nine patients, managed for gastroschisis during 2000-2010 were reviewed retrospectively. Patients were analysed in respect to g...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-09-01 00:00:00
abstract：OBJECTIVE:Neonatal mortality is a major health problem in sub-Saharan Africa and the risk factors are not well established. The objective of this study was to determine the risk factors for neonatal mortality at the Yaounde Gynaeco-Obstetric and Pediatric Hospital. METHODS:We conducted a retrospective and analytic cas...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-08-01 00:00:00
abstract：BACKGROUND:Among different categories of sedative agents, benzodiazepines have been prescribed for more than three decades to patients of all ages. The effective and predictable sedative and amnestic effects of benzodiazepines support their use in pediatric patients. Midazolam is one of the most extensively used benzod...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.25(3)2015.494
更新日期：2015-06-01 00:00:00
abstract：OBJECTIVE:The surveillance of acute flaccid paralysis (AFP) is a key strategy for monitoring the progress of poliomyelitis eradication and is a sensitive measure for detecting potential cases of poliomyelitis and poliovirus infection. This study was conducted to describe the characteristics of patients reported with AF...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-04-01 00:00:00
abstract：OBJECTIVE:The aim of the study was to evaluate clinical characteristics of ureteroceles particularly for diagnostic and treatment challenges. METHODS:Data about patients treated for ureterocele in the two hospital clinics during 1996- 2009 are retrospectively evaluated. FINDINGS:There were 12 girls and 7 boys. Sympto...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2010-12-01 00:00:00
abstract：OBJECTIVE:This study aims at providing local reference values for blood pressure by height and determining distribution pattern of systolic and diastolic blood pressure in 6.5-11.5 elementary school children for the first time in Shiraz (Southern Iran). METHODS:Height, systolic blood pressure (SBP) and diastolic blood...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-06-01 00:00:00
abstract：OBJECTIVE:Shiga toxin-producing E. coli (STEC) is a pathogenic E. coli that may cause hemolytic uremic syndrome (HUS) after diarrheal disease through Shiga toxins. Management of the patients with STEC infection is different from that of other diarrheal diseases due to increase in frequency of HUS after antibiotic admin...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-12-01 00:00:00
abstract：OBJECTIVES:Henoch-Schonlein Purpura (HSP) is the most widespread systemic vasculitis during childhood. Gastrointestinal tract retention and gastrointestinal bleeding are among its major complications. Neutrophil-Lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) are indicators related to inflammatory diseases. ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.8191
更新日期：2016-10-10 00:00:00
abstract：OBJECTIVE:Injection of botulinum toxin into the anal sphincter is a novel and safe new treatment of chronic idiopathic constipation and anal fissure in children. The purpose of this study was to determine the utility of intra sphincteric injection of botox in the treatment of children with refractory constipation. MET...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-10-01 00:00:00
abstract：BACKGROUND:B-type natriuretic peptide (BNP) levels are elevated in children with congenital heart disease involving a left-to-right shunt (LRS) and are also raised in dilated cardiomyopathy (DCM). As far as we know, there are few reports in the literature comparing the change of the NT-proBNP in LRS and DCM especially ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.4485
更新日期：2016-05-15 00:00:00
abstract：INTRODUCTION:Truncus arteriosus with intact ventricular septum is a rare and unique variant of persistent truncus arteriosus (PTA) which usually presents with central cyanosis and congestive heart failure in neonate and early infancy. Associated cardiac and non-cardiac anomalies may affect morbidity and mortality of th...
journal_title：Iranian journal of pediatrics
pub_type：
doi：10.5812/ijp.2081
更新日期：2015-10-01 00:00:00
abstract：:Congenital adrenal hyperplasia (CAH) is characterized by impaired biosynthesis of cortisol. 21-hydroxylase deficiency is the most common cause of CAH affecting 1 in 10000-15000 live births over the world. The frequency of the disorder is very high in Iran due to frequent consanguineous marriages. Although biochemical ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-06-01 00:00:00
abstract：OBJECTIVE:Providing a safe and efficient dental treatment for a young patient is a challenge for the dentist and the child. The purpose of this study was to investigate the effectiveness, safety and acceptability of buccal midazolam in dental pediatric patients and to compare it with oral Midazolam. METHODS:Eighteen u...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-04-01 00:00:00
abstract：OBJECTIVE:Beta thalassemia major is a prevalent hereditary disease in Mediterranean region especially Iran. Early blood transfusion is necessary for most of the patients and frequent transfusion can cause various medical problems for the patients. The aim of this study was to find major causes of hospital admission in ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-12-01 00:00:00
abstract：OBJECTIVE:Late-onset sepsis is responsible for high morbidity and mortality in newborn infants in the world and in particular in developing countries. In this study, we evaluated whether clinical characteristics, laboratory parameters and measurements of serum interleukin-8 (IL-8) are able to discriminate between late ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2010-03-01 00:00:00
