Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation

Objective  

To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation.     

CT identification of abdominal injuries in abused pre-school-age children

Background  

Although the abdominopelvic CT findings of abdominal trauma in children have been described, little has been written about the subset of children who are victims of abuse.     

Internal hernias in children: spectrum of clinical and imaging findings

Background  

Internal hernias are uncommon in children and their clinical and imaging findings have not been widely addressed.     

Zinc status in HIV infected Ugandan children aged 1-5 years: a cross sectional baseline survey

Background  

Low concentrations of serum zinc have been reported in HIV infected adults and are associated with disease progression and an increased risk of death. Few studies have been conducted in HIV infected children in Africa. We determined serum zinc levels and factors associated with zinc deficiency in HIV infected Ugandan children.     

Jaw and gum tumours in children

Introduction  

Jaw and gum tumours are rare conditions in children. Children presenting with jaw tumours during 2001 till 2007 are presented. Their modes of presentation, operative procedures and findings, histology and post operative results have been described.     

The role of lumbar puncture in children with suspected central nervous system infection

Background  

The use of the lumbar puncture in the diagnosis of central nervous system infection in acutely ill children is controversial. Recommendations have been published but it is unclear whether they are being followed.     

Incidental thyroid abnormalities identified on neck US for non-thyroid disorders

Background  

Incidental thyroid abnormalities detected on US examinations in children have not been well documented.     

Associations between regional brain volumes at term-equivalent age and development at 2 years of age in preterm children

Background  

Altered brain volumes and associations between volumes and developmental outcomes have been reported in prematurely born children.     

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

Background

Germline mutations and deletions of SMARCB1/INI1 in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous estimates suggested that 15–20% of rhabdoid tumors were caused by an underlying germline abnormality of SMARCB1. However, these studies were limited by case selection and an inability to detect intragenic deletions and duplications.

Procedure

One hundred matched tumor and blood samples from patients with rhabdoid tumors of the brain, kidney, or soft tissues were analyzed for mutations and deletions of SMARCB1 by FISH, multiplex ligation‐dependent probe amplification (MLPA), sequence analysis and high resolution Illumina 610K SNP‐based oligonucleotide array studies.

Results

Thirty‐five of 100 patients were found to have a germline SMARCB1 abnormality. These abnormalities included point and frameshift mutations, intragenic deletions and duplications, and larger deletions including regions both proximal and distal to SMARCB1. There were nine cases that demonstrated parent to child transmission of a mutated copy of SMARCB1. In eight of the nine cases, one or more family members were also diagnosed with rhabdoid tumor or schwannoma, and two of the eight families presented with multiple affected children in a manner consistent with gonadal mosaicism.

Conclusions

Approximately one‐third of newly diagnosed patients with rhabdoid tumor have an underlying genetic predisposition to tumors due to a germline SMARCB1 alteration. Families may demonstrate incomplete penetrance and gonadal mosaicism, which must be considered when counseling families of patients with rhabdoid tumor. Pediatr Blood Cancer. 2010;56:7–15. © 2010 Wiley‐Liss, Inc.     

Developing low-dose C-arm CT imaging for temporomandibular joint (TMJ) disorder in interventional radiology

Background  

Manufacturers have provided C-arm CT imaging technologies for applications in interventional radiology in recent years. However, clinical imaging protocols and radiation doses have not been well studied or reported.     

Foreskin development in 10 421 Chinese boys aged 0–18 years

Background  

Few studies on foreskin development and the practice of circumcision have been done in Chinese boys. This study aimed to determine the natural development process of foreskin in children.     

Theophylline-associated status epilepticus in an infant: pharmacokinetics and the risk of suppository use

Background  

Theophylline has been widely used to treat asthma, but recent studies have revealed that the possible risks for seizure may result in the revision of the therapeutic guidelines.     

Prenatal imaging of amniotic band sequence: utility and role of fetal MRI as an adjunct to prenatal US

Background  

Amniotic band sequence and its US manifestations have been well-described. There is little information, however, regarding the accuracy and utility of fetal MRI.     

Development of paediatric quality of inpatient care indicators for low-income countries - A Delphi study

Background  

Indicators of quality of care for children in hospitals in low-income countries have been proposed, but information on their perceived validity and acceptability is lacking.     

Reducing abdominal CT radiation dose with the adaptive statistical iterative reconstruction technique in children: a feasibility study

Backgound  

The use of the adaptive statistical iterative reconstruction (ASIR) algorithm has been shown to reduce radiation doses in adults undergoing abdominal CT studies while preserving image quality. To our knowledge, no studies have been done to validate the use of ASIR in children.     

Interventional occlusion of congenital vascular malformations

Background  

New materials and devices have been used in the management of cardiac malformations. In this paper, we present our experience with interventional occlusion of congenital vascular malformations.     

Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes

Introduction  

More than 200 mutations have been found in patients with Gaucher disease (GD) and some mutations usually have a high frequency in certain populations. Genotype/phenotype correlation in patients with GD has not been established. This study was designed to determine underlying mutations in Egyptian children with GD and to assess their relation to disease phenotypes.     

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

Background  

Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period.     

Endoscopic balloon dilatation for congenital membranous stenosis in the jejunum in an infant

Introduction  

As endoscopic equipment and instruments have improved, the indications for endoscopic treatment have also been extended. This report presents an applicable procedure of endoscopic balloon dilatation for an infant patient with congenital membranous stenosis in the jejunum.     

Peripherally inserted central catheters and the incidence of candidal sepsis in VLBW and ELBW infants: is sepsis increased?

Background  

Peripherally inserted central catheters (PICCs) have been widely used in neonatal clinics. However, the complications such as infection after PICC treatment are also confronting neonatologists especially in developing countries. This study was undertaken to investigate whether PICCs is a safe treatment for very low birth weight (VLBW) infants and extremely low birth weight (ELBW) infants.