Abstract：
BACKGROUND:The Ehlers-Danlos syndrome type VI (EDSVI) is an autosomal recessive connective tissue disease which is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity and fragility, joint hypermobility and (sub-)luxations, microcornea, rupture of arteries and the eye globe, and osteopenia. The enzyme collagen lysyl hydroxylase (LH1) is deficient in these patients due to mutations in the PLOD1 gene. CASE PRESENTATION:We report a 17-year-old boy, born to related parents, with severe kyphoscoliosis, scar formation, joint hypermobility and multiple dislocations, muscular weakness, rupture of an ocular globe, and a history of severe infantile hypotonia. EDS VI was suspected clinically and confirmed by an elevated ratio of urinary total lysyl pyridinoline to hydroxylysyl pyridinoline, abnormal electrophoretic mobility of the α-collagen chains, and mutation analysis. CONCLUSION:Because of the high rate of consanguineous marriages in Iran and, as a consequence thereof, an increased rate of autosomal recessive disorders, we urge physicians to consider EDS VI in the differential diagnosis of severe infantile hypotonia and muscular weakness, a disorder which can easily be confirmed by the analysis of urinary pyridinolines that is highly specific, sensitive, robust, fast, non-invasive, and inexpensive.
journal_name
Iran J Pediatrjournal_title
Iranian journal of pediatricsauthors
Kariminejad A,Bozorgmehr B,Khatami A,Kariminejad MH,Giunta C,Steinmann Bsubject
Has Abstractpub_date
2010-09-01 00:00:00pages
358-62issue
3eissn
2008-2142issn
2008-2150journal_volume
20pub_type
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：: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:Acute bacterial meningitis in pediatrics remains a serious and potentially lethal disease. Its prognosis is critically dependent on rapid diagnosis and treatment. The use of biological markers, like procalcitonin, has been proposed to facilitate the accuracy of the initial diagnosis of bacterial meningitis. T...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-12-01 00:00:00
abstract：BACKGROUND:Hepatitis A virus (HAV) infection constitutes an important health problem in developing countries. It is usually a benign self-limiting disease, but may present with atypical clinical findings. CASE PRESENTATION:A twelve-year-old male with ascites, pleural effusion, and acalculous cholecystitis during the c...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2010-12-01 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：BACKGROUND:Respiratory distress syndrome (RDS) is one of the most common diseases in neonates admitted to NICU. For this important cause of morbidity and mortality in preterm neonates, several treatment methods have been used. To date, non-invasive methods are preferred due to fewer complications. OBJECTIVES:Herein, t...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.2352
更新日期：2016-03-05 00:00:00
abstract：OBJECTIVE:To determine the risk factors associated with lower respiratory tract infections (LRTI) related hospitalizations in preterm infants receiving palivizumab throughout the high season for respiratory syncytial virus (RSV) infection. METHODS:Premature infants who were commenced on palivizumab prophylaxis during ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-12-01 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: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：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：BACKGROUND:Acute lymphoblastic leukemia (ALL) is the most common malignancy diagnosed in children. Extramedullary leukemia including hepatosplenomegaly, lymphadenopathy, and mediastinal mass are the clinical presentations of T-cell ALL. Pericardial effusion and atrial mass are rare presentations of pediatric leukemia. ...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2012-03-01 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：BACKGROUND:Diphallus is a rare anomaly and accompanying anomalies vary from bifid scrotum, bladder exstrophy, imperforate anus and colo-rectal anomaly such as duplication, and other associated anomalies. CASE PRESENTATION:A 2-day old infant is reported with imperforate anus and complete duplication of recto-sigmoid co...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2010-06-01 00:00:00
abstract：OBJECTIVE:To investigate T-cell immunoglobulin domain and mucin domain-containing molecule-3 (Tim-3) and its ligand galectin-9 mRNA expression in peripheral blood mononuclear cells (PBMCs) from Henoch-Schoenlein Purpura (HSP) patients. METHODS:Quantitative real-time reverse transcription-polymerase chain reaction (PCR...
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: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：OBJECTIVE:The objective of this study was to determine the normative data and psychometric properties of the parent and teacher rating form of the child behavior checklist (CBCL) in an Iranian community sample. METHODS:A sample of 6-12 year old students was randomly selected from ten elementary schools in Tehran, Iran...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-09-01 00:00:00
abstract：BACKGROUND:Nijmegen Breakage Syndrome(NBS) is a rare autosomal recessive disorder with specific clinical features, characteristic chromosomal breakage and combined imunodeficiency. Patients with this condition also associate growth retardation with microcephaly, predisposition to malignancy and specific skin manifestat...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2013-02-01 00:00:00
abstract：BACKGROUND:Healthcare-associated bloodstream infections (HCA-BSI) are a major cause of morbidity and mortality in neonatal intensive care units (NICUs). OBJECTIVES:We aimed to determine the causative organisms and risk factors of HCA-BSIs in NICUs. METHODS:This study was performed between January 2011 and December 20...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.5213
更新日期：2016-07-27 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:Human pandemic influenza H(1)N(1) virus as the cause of febrile respiratory infection ranging from self-limited to severe illness has spread globally during 2009. Signs and symptoms of upper and lower respiratory tract involvement, fever, sore throat, rhinitis, myalgia, malaise, headache, chills and fatigue a...
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: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 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: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：CONTEXT:Blood pressure (BP) tracks from childhood to adulthood, and has ethnic variations. Therefore, it is important to assess the situation of pediatric BP in different populations. This study aims to systematically review the studies conducted on BP in Iranian children and adolescents. EVIDENCE ACQUISITION:We condu...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章,评审
doi：10.5812/ijp.4496
更新日期：2016-03-05 00:00:00
abstract：OBJECTIVE:Growth charts are widely used to assess children's growth status and can provide a trajectory of growth during early important months of life. Racial differences necessitate using local growth charts. This study aimed to provide standardized growth curves of body mass index (BMI) for children living in northe...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-03-01 00:00:00
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 t...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.4473
更新日期：2016-02-01 00:00:00
abstract：OBJECTIVE:To identify and compare risk factors for recurrent respiratory infections in preschool children between resident and floating population in Yiwu, China. METHODS:Investigations was conducted in resident and floating population in Yiwu city, Zhejiang province. A structured questionnaire was used to collect inf...
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:Comparing the effect of topical human milk application and dry cord care on cord separation time. METHODS:This research was a randomized clinical trial study on 130 singleton and mature newborns. Newborns were placed randomly in groups of topical application of human milk and dry cord care. The umbilical sep...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-06-01 00:00:00
abstract：BACKGROUND:Atrial septal defect (ASD) is a common congenital heart disease. OBJECTIVES:The aim of this study was to assess the clinical course of ASD, as well as its frequency of spontaneous closure and regression of diameter. METHODS:In a study conducted from 2000 to 2011, 192 consecutive patients with an isolated A...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.4649
更新日期：2016-08-01 00:00:00
abstract：OBJECTIVE:Paucity of interlobular bile ducts (PIBD), defined as absence or marked decrease in the number of interlobular bile ducts, is one of the causes of neonatal cholestasis. Treatment includes treating the intractable pruritus caused by persistent cholestasis. PIBD can be part of a familial syndrome of cholestasis...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-02-01 00:00:00
