Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency.

We report the case of a 13-year-old female patient presenting with presyncope and palpitations. Her electrocardiogram revealed an abbreviation of the rate-corrected QT interval with imaging showing significant left ventricular dysfunction. Carnitine levels were measured as part of her diagnostic workup, discovering a rare, reversible cause of short QT syndrome (SQTS) and associated cardiomyopathy-primary carnitine deficiency (PCD) caused by a homozygous mutation in the SLC22A5 gene, leading to an in-frame deletion mutation (NP_003051.

Detection of Circulating and Disseminated Neuroblastoma Cells Using the ImageStream Flow Cytometer for Use as Predictive and Pharmacodynamic Biomarkers.

Purpose: Circulating tumor cells (CTCs) serve as noninvasive tumor biomarkers in many types of cancer. Our aim was to detect CTCs from patients with neuroblastoma for use as predictive and pharmacodynamic biomarkers.

Experimental Design: We collected matched blood and bone marrow samples from 40 patients with neuroblastoma to detect GD /CD45 neuroblastoma CTCs from blood and disseminated tumor cells (DTCs) from bone marrow using the Imagestream Imaging flow cytometer (ISx).

Modeling Podocyte Biology Using Drosophila Nephrocytes.

Vertebrate podocytes are kidney glomerular cells critically required for normal renal filtration. To fulfill their role, podocytes form molecular sieves known as slit diaphragms that contribute to the glomerular filtration barrier. The disruption of podocyte biology or slit diaphragm formation in humans is a precursor to albuminuria, renal failure, and cardiovascular morbidity.

Improved Medical Treatment and Surgical Surveillance of Children and Adolescents with Ulcerative Colitis in the United Kingdom.

Background: Pediatric ulcerative colitis (UC) presents at an earlier age and increasing prevalence. Our aim was to examine morbidity, steroid sparing strategies, and surgical outcome in children with active UC.

Methods: A national prospective audit was conducted for the inpatient period of all children with UC for medical or surgical treatment in the United Kingdom (UK) over 1 year.

Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type.

Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type is a rare autosomal dominant condition arising from defects in COL2A1 the genes responsible for the biosynthesis of procollagen type II. The orthopaedic manifestations of patients can be hypoplastic odontoid peg with atlantoaxial instability, severe kyphosis or lordosis of dorsal and lumbar spines, hip subluxation, coxa vara and early severe hip osteoarthritis, and malalignment of lower limbs like genu valgum or club foot. We report a mother and daughter with SEMD Strudwick Type and describe their orthopaedic problems, surgical management and clinical outcome after 30 years and 7 years of follow-up respectively.

Atypical external hydrocephalus with visual failure due to occult leptomeningeal dissemination of a pontine glioma. Case report.

The authors report on the case of a diffuse pontine glioma in a 5-year-old boy in whom radiologically and cytologically occult leptomeningeal metastases led to the development of an atypical "external" hydrocephalus, associated with grossly elevated intracranial pressure (ICP). Initial neuroimaging demonstrated only mild communicating ventricular dilation associated with a noticeable enlargement of the subarachnoid space, particularly over the surface of the frontal lobes; these features are not usually associated with significantly elevated ICP. Possible pathophysiological mechanisms resulting in this unusual clinical presentation are discussed.

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition. The main clinical features include multiple lentigines, cardiovascular defects, and facial anomalies, some of which are shared with Noonan syndrome (NS). Recent reports have shown that LEOPARD syndrome can be caused by mutations in PTPN11, the gene in which mutations can produce NS.

Outcome of single fraction total body irradiation-conditioned stem cell transplantation in younger children with malignant disease--comparison with a busulphan-cyclophosphamide regimen.

The logistic difficulties of using fractionated total body irradiation (TBI) in the youngest children often limit the choice to single fraction TBI (sfTBI) or non-TBI-based regimens. We retrospectively evaluated 44 such children ( < 7 years) conditioned with either sfTBI (n = 26) or busulphan-cyclophosphamide (Bu-Cy) (n = 18), transplanted for hematological malignancies between 1988 and 2001. Both neutrophil and platelet engraftment were faster in the sfTBI group with a similar incidence of graft failure (6.

Influence of cytomegalovirus (CMV) sero-positivity on CMV infection, lymphocyte recovery and non-CMV infections following T-cell-depleted allogeneic stem cell transplantation: a comparison between two T-cell depletion regimens.

We compared the incidence and outcome of preemptively treated cytomegalovirus (CMV) infection, lymphocyte recovery and non-CMV infections between two different TCD modalities, one employing CD34+ selection and T-cell add-back (TCAB), preceded by Campath-1H in vivo (CD34+/TCAB group, n=29), and the other using grafts incubated with Campath-1H in vitro (Campath-1H in vitro group, n=32). The probabilities of CMV reactivation and recurrence were 67 and 83.6% in the CD34+/TCAB group and 42.

Acute and maintenance treatment of atopic dermatitis in children - two comparative studies with fluticasone propionate (0.05%) cream.

Background: Two multicentre, randomised, parallel group, double-blind, comparative studies in children (2-14 yr) evaluated fluticasone propionate (FP) 0.05% cream for both acute and maintenance treatment of moderate to severe atopic dermatitis (AD).

Methods: One study compared FP with hydrocortisone (HC) 1% cream (FP 70, HC 67) and the other with hydrocortisone butyrate (HCB) 0.

Giant-cell fibroblastoma in a patient with a bone-marrow transplant.

A case of an epigastric giant-cell fibroblastoma is reported in a 6-year-old girl who had undergone a bone-marrow transplant for severe combined immunodeficiency secondary to adenosine deaminase deficiency. A small subcutaneous nodule had been excised from the epigastrium at age 12 months.

Early lymphocyte recovery is an important determinant of outcome following allogeneic transplantation with CD34+ selected graft and limited T-cell addback.

We evaluated the outcome of 29 patients (age 22-60 years), who received a CD34+selected related (n=16) or unrelated graft (n=13) with limited T-cell addback (TCAB) (median 5.9 x 10(4)/kg) following full-intensity conditioning for haematological malignancies. In all, 16 patients (55%) had either advanced disease or previous transplants.

Perianal abscess in childhood.

Perianal abscess (PA) is a common condition encountered in childhood, but its optimal primary treatment is uncertain. Treatment of PA by incision and drainage (I & D) alone is associated with an unacceptably high recurrence rate, either as fistula-in-ano (FIA) or as PA. To identify possible causes of recurrence and assess the value of concomitant laying open of a fistulous tract at the time of primary incision and drainage, the case notes of all children who presented to our institution with a PA between January 1992 and January 1997 were reviewed retrospectively.

Faecal calprotectin concentrations and diagnosis of necrotising enterocolitis.

Calprotectin has been proposed as a useful marker of inflammatory bowel disease in children. We did a pilot study to establish whether it can be used to aid diagnosis of necrotising enterocolitis in preterm infants. Patients with clinical features of necrotising enterocolitis had raised faecal calprotectin concentrations at the time of diagnosis compared with matched controls (288.

Rapid skin anaesthesia using high velocity lignocaine particles: a prospective placebo controlled trial.

Background: Local anaesthetic creams (EMLA and Ametop) are used widely to provide pain free intravenous cannulation. However, they take a minimum of 45 minutes to become effective.

Aims: To evaluate a prototype device, dermal Powderject lidocaine (DPL), that delivers high velocity lignocaine particles into the skin.

The role of IGF-binding proteins in mediating the effects of recombinant human IGF-I on insulin requirements in type 1 diabetes mellitus.

To determine the role of IGF-binding proteins in mediating the direct effects of recombinant human IGF-I on insulin requirements in type 1(insulin-dependent) diabetes mellitus, overnight changes in IGF-I, IGF-II, and IGF-binding protein-1, -2, and -3, collected under euglycemic conditions, were compared in nine subjects after double blind, randomized, sc administration of recombinant human IGF-I (40 microg/kg) or placebo at 1800 h. On both nights a somatostatin analog infusion (300 ng/kg x h) suppressed endogenous GH production, and three timed discrete GH pulses (total, 0.029 IU/kg x night) ensured identical GH levels.

Second malignancies in children: the usual suspects?

The aim of this article is to provide an up to date review of second malignant neoplasms (SMN's) following treatment for childhood cancer, referring to their incidence, the role of genetic factors, and how the primary malignancy and treatment received influence the type, site and prognosis of SMN's. The role of genetic factors will be discussed as far as they impact upon a predisposition to later development of SMN's. The primary malignancies that have important associations with SMN's will then be discussed, in particular Hodgkin's disease, retinoblastoma and acute lymphoblastic leukaemia.

Mixed foregut cyst associated with esophageal atresia.

The authors report an unusual case of a thoracoabdominal foregut malformation with components of bronchogenic, esophageal duplication, and pancreatic enterogenous cysts, that presented in a child with esophageal atresia. J Pediatr Surg 36:939-940.