A 12-Day-Old Boy with Methemoglobinemia After Circumcision with Local Anesthesia (Lidocaine/Prilocaine).

A 12-day-old boy presented with duskiness 4 h after circumcision with local anesthesia: infiltration with lidocaine (6 mL 1 %) and topical EMLA cream (2.5 % lidocaine/2.5 % prilocaine).

[Neonatal outcomes of prevention of vertical HIV transmission; 15 years of experience in a non-university HIV centre].

Objective: To evaluate the neonatal outcomes of the policy for the prevention of vertical HIV transmission in a non-university HIV centre.

Design: Retrospective, descriptive study.

Method: We analysed the HIV status of newborns of HIV-positive mothers during pregnancy in the period between 1 January 1995 and 31 December 2010 in St.

Evaluation of an online, case-based interactive approach to teaching pathophysiology.

Aim: The aim of this study was to evaluate a new pedagogical approach in teaching fluid, electrolyte and acid-base pathophysiology in undergraduate students.

Methods: This approach comprises traditional lectures, the study of clinical cases on the web and a final interactive discussion of these cases in the classroom. When on the web, the students are asked to select laboratory tests that seem most appropriate to understand the pathophysiological condition underlying the clinical case.

MRI diagnosis of occipital cephalohematoma mimicking an encephalocele.

A 4-day old neonate presented with a midline swelling located on the back of its head. The two most likely causes of the swelling were cephalohematoma, which is self-limiting and carries a benign prognosis, and encephalocele, often associated with central nervous system malformations. Evaluation with magnetic resonance imaging (MRI) revealed a subperiosteal blood collection with intact underlying structures, establishing the diagnosis of a cephalohematoma.

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

Background: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA methyltransferase gene DNMT3B in some, but not all, ICF patients.

Objective: To obtain a comprehensive description of the clinical features of this syndrome as well as genotype-phenotype correlations in ICF patients.

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Cobalamin is an essential cofactor for two mammalian enzymes: methionine synthase and methylmalonyl-CoA mutase. Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria. Recently, the gene responsible for the CblC type, MMACHC, was identified, which enables molecular diagnostics.

Serological testing for Bartonella henselae infections in The Netherlands: clinical evaluation of immunofluorescence assay and ELISA.

Cat-scratch disease (CSD), caused by Bartonella henselae infection, can mimic malignancy and can manifest atypically. Reliable serological testing is therefore of great clinical importance. The diagnostic performance of immunofluorescence assay (IFA) and ELISA was evaluated in a group of Dutch patients with proven CSD (clinical diagnosis confirmed by PCR).

Transient paresis associated with cat-scratch disease: case report and literature review of vertebral osteomyelitis caused by Bartonella henselae.

Cat-scratch disease (CSD) rarely presents as vertebral osteomyelitis. We describe a case with paresis of the arm with total recovery after antibiotic and neurosurgical therapy. We reviewed 20 other cases of CSD vertebral osteomyelitis in the literature.

[Rituximab instead of splenectomy in 4 children with chronic or refractory autoimmune haemolytic anaemia].

4 children, a boy aged 10 years and 3 girls aged 3, 3, and 16 years, suffering from chronic or refractory autoimmune haemolytic anaemia (AIHA), who were dependent on high doses of steroids and were refractory to immunosuppressants, were treated with rituximab at a dose of 375 mg/m2 once a week for 3 or 4 weeks as an alternative to splenectomy. Rituximab is a monoclonal anti-CD20 antibody that prevents the production ofautoantibodies by selective destruction of B-lymphocytes. Haemoglobin levels increased and the parameters of chronic haemolysis (reticulocyte count, lactate dehydrogenase activity, bilirubin concentration) decreased to normal values.

Pancreatitis, complicated by a pancreatic pseudocyst associated with the use of valproic acid.

A 12-year-old boy developed pancreatitis, complicated by a pancreatic pseudocyst, as an adverse reaction to valproic acid (VPA) treatment for epilepsy. Pancreatitis subsided within three weeks after discontinuation of VPA. The pancreatic pseudocyst was managed without surgery and resolved spontaneously in four weeks.

Kinome profiling for studying lipopolysaccharide signal transduction in human peripheral blood mononuclear cells.

The DNA array technique allows comprehensive analysis of the genome and transcriptome, but the high throughput array-based assessment of intracellular signal transduction remains troublesome. The goal of this study was to test a new peptide array technology for studying the activity of all kinases of whole cell lysates, the kinome. Cell lysates from human peripheral blood mononuclear cells before and after stimulation with lipopolysaccharide were used for in vitro phosphorylation with [gamma-33P]ATP arrays consisting of 192 peptides (substrates for kinases) spotted on glass.

Identification of an interleukin-15alpha receptor-binding site on human interleukin-15.

To identify the epitopes in human interleukin-15 (IL-15) that are responsible for binding to the interleukin-15 receptor alpha chain, antibody and receptor mapping by peptide scanning and site-directed mutagenesis was used. By using peptide scanning, we identified four regions in IL-15. The first region ((85)CKECEELEEKN(95)) is located in the C-D loop and is recognized by a set of non-inhibitory antibodies.

Anaphylaxis after first exposure to ceftriaxone.

Unlabelled: Life-threatening anaphylaxis developed in a 5-y-old boy with septic shock within minutes of receiving his first intravenous injection of ceftriaxone. Hypersensivity could not be demonstrated by skin testing and ceftriaxone-specific IgE. However, an in vivo, controlled, intravenous challenge was clearly positive.

A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.

The association of dysmorphic features and failure of one or more bone marrow cell lines is well known. Examples are Fanconi's anemia and Diamond-Blackfan anemia. This report describes 3 similarly affected children from consanguineous parents, all showing low birth weight, severe growth retardation, distinct facial features, microcephaly, mental retardation and onset of severe pancytopenia in infancy without increased chromosomal breakage.

Phospholipase Cdelta regulates germination of Dictyostelium spores.

Background: Many eukaryotes, including plants and fungi make spores that resist severe environmental stress. The micro-organism Dictyostelium contains a single phospholipase C gene (PLC); deletion of the gene has no effect on growth, cell movement and differentiation. In this report we show that PLC is essential to sense the environment of food-activated spores.

Deep vein thrombosis after hemolytic crisis in a glucose-6-phosphate dehydrogenase deficient boy with antithrombin-III deficiency.

Full text is available as a scanned copy of the original print version.

Effects of oxatomide and derivatives on high affinity IgE receptor-activated signal transduction pathways in rat basophilic leukemia cells: role of protein tyrosine hyperphosphorylation and inhibition of extracellular calcium influx.

The antiallergic drug oxatomide and analogs inhibit mediator release from a rat basophilic leukemia (RBL-2H3) cell line, which is frequently used as a mast cell model. By investigating a series of derivatives of oxatomide with different inhibiting activities on exocytosis, we aimed to evaluate the role of their effects on the early steps of the signal transduction cascade in the inhibition of exocytosis. The active compounds induced hyperphosphorylation of tyrosine residues both in stimulated as well as in resting cells.

A patient with meningioma showing multiple cytogenetic abnormalities and a constitutional translocation (3;9)(q13.3;q22).

Several different clonal abnormalities in both hypo- and hyperdiploid cell lines were observed in tumor cells of a 35-year-old man with a syncytial meningioma. A translocation involving chromosomes 3 and 9, t(3;9)(q13.3;q22), was present in all analyzable tumor cells and proved to be constitutional.

Isolated Langerhans' cell histiocytosis of the spine: A diagnostic and therapeutic challenge.

Full text is available as a scanned copy of the original print version.