Insights into the pathophysiology of catch-up compared with non-catch-up growth in children born small for gestational age: an integrated analysis of metabolic and transcriptomic data.

Small for gestational age (SGA) children exhibiting catch-up (CU) growth have a greater risk of cardiometabolic diseases in later life compared with non-catch-up (NCU) SGA children. The aim of this study was to establish differences in metabolism and gene expression profiles between CU and NCU at age 4-9 years. CU children (n=22) had greater height, weight and body mass index standard deviation scores along with insulin-like growth factor-I (IGF-I) and fasting glucose levels but lower adiponectin values than NCU children (n=11; all P<0.05). Metabolic profiling demonstrated a fourfold decrease of urine myo-inositol in CU compared with NCU (P<0.05). There were 1558 genes differentially expressed in peripheral blood mononuclear cells between the groups (P<0.05). Integrated analysis of data identified myo-inositol related to gene clusters associated with an increase in insulin, growth factor and IGF-I signalling in CU children (P<0.05). Metabolic and transcriptomic profiles in CU SGA children showed changes that may relate to cardiometabolic risk.

Clinical profile of chikungunya sequelae, association with obesity and rest during acute phase.

The scarcity of literature regarding chikungunya infection sequelae makes it an unexplored area of medicine. We analyzed 1,111 patients with confirmed chikungunya sequelae and found a female predominance in those with sequelae which increased with age up to 40-50 years old, then decreased with further increase in age. In males age > 60 years old was the predominant age group affected. The symptoms were mainly symmetrical polyarthralgia of the proximal and distal interphalangeal joints. Dermatological manifestations were mainly hyper pigmented patches, generalized pruritus, and a maculopapular rash. Insomnia, fatigability and headache may indicate neurological involvement. Obesity gave an odds ratio of 2.07 for risk of arthritis. There was no significant benefit from rest during the acute phase (p < 0.001) of chikungunya in preventing chronicity of sequelae. Obesity as an independent risk factor for chronicity of chikungunya infection sequelae is a new finding.

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dystrophin and glycerol kinase (GK) genes. We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy. Investigation using the androgen receptor as a marker gene identified skewed inactivation of the X chromosome. In the patient's leucocytes, the paternal X chromosome was completely inactive, but in muscle 20% of the active chromosomes were of paternal origin. Thus skewed X inactivation (deletion on the active maternal X chromosome with an inactive paternal X chromosome) is associated with AHC in a female. Variability in X inactivation between tissues may account for the pronounced salt loss and adrenal insufficiency but mild muscular dystrophy.

Tetanus in an unvaccinated child in the United Kingdom: case report.

Tetanus is a serious infectious disease that is associated with high morbidity and mortality. It is uncommon in developed countries like the United Kingdom due to widespread immunization. However, cases are still being reported in children who are not immunized. We report a case of an 8-year-old Asian boy who had missed his childhood vaccinations but had been living in the United Kingdom for 3 years. He presented with trismus and muscle spasms needing ventilation in Paediatric Intensive Care for 3 weeks. The case highlights the importance of vaccinating newly arrived children.

Deep venous thrombosis and pulmonary embolism following chickenpox.

An 11-year-old girl developed proximal deep venous thrombosis and bilateral pulmonary embolism associated with antiphospholipid syndrome following chickenpox. She responded to prolonged anticoagulation therapy.

Role of intravenous urogram in investigation of urinary tract infection: an observational study.

OBJECTIVES: To examine the value of an intravenous urogram (i.v.U) in patients with abnormal differential (99m)Tc dimercaptosuccinic acid (DMSA) uptake without scarring or ultrasound abnormality. STUDY DESIGN: Forty patients (age 0-19 years) were identified over a two year period in whom the differential renal uptake was >10%, who had smooth renal outlines, and had no evidence of scarring. All patients had an ultrasound examination. Two had marked urological abnormalities on ultrasound and eight had a duplex system in the kidney with greater DMSA uptake. In 18 patients where no explanation was apparent for the discrepant DMSA uptake, an i.v.U was performed. RESULTS: Eight patients had a normal i.v.U. In the remaining 10 patients, six had duplex systems without scarring and four had appearances of scarring in the kidney with reduced DMSA uptake. CONCLUSIONS: In this small selected group an i.v.U will identify a significant number of patients with normal kidneys, unrecognised simple duplex systems, or scarring where the DMSA scan has been inconclusive. This will help in planning long term follow up.