Idiopathic intracranial hypertension in a child after hemodialysis

Idiopathic intracranial hypertension remains a disease of unknown etiology. Epidemiology, associations, features, and prognosis in children have changed over the years. The main clinical complaint of pediatric idiopathic intracranial hypertension is headache with visual disturbance. We report on a patient with childhood idiopathic intracranial hypertension, who presented without headache after hemodialysis for acute renal failure. Idiopathic intracranial hypertension without headache is believed to have a poor prognosis. However, this child demonstrated a favorable outcome with medical therapy. The child was followed with serial optical coherence tomography of retinal nerve fiber layer thickness around the optic nerve head. In the absence of a reliable procedure to evaluate the therapeutic efficacy in the follow-up of patients with idiopathic intracranial hypertension, the importance of optical coherence tomography, a noninvasive, objective, and reproducible procedure, is highlighted as a useful adjunct in the management of idiopathic intracranial hypertension.     

Role of gene-gene/gene-environment interaction in the etiology of eastern Indian ADHD probands

Associations between attention deficit hyperactivity disorder (ADHD) and genetic polymorphisms in the dopamine receptors, transporter and metabolizing enzymes have been reported in different ethnic groups. Gene variants may affect disease outcome by acting synergistically or antagonistically and thus their combined effect becomes an important aspect to study in the disease etiology. In the present investigation, interaction between ten functional polymorphisms in DRD4, DAT1, MAOA, COMT, and DBH genes were explored in the Indo-Caucasoid population. ADHD cases were recruited based on DSM-IV criteria. Peripheral blood samples were collected from ADHD probands (N = 126), their parents (N = 233) and controls (N = 96) after obtaining informed written consent for participation. Genomic DNA was subjected to PCR based analysis of single nucleotide polymorphisms and variable number of tandem repeats (VNTRs). Data obtained was examined for population as well as family-based association analyses. While case-control analysis revealed higher occurrence of DAT1 intron 8 VNTR 5R allele (P = 0.02) in cases, significant preferential transmission of the 7R-T (DRD4 exon3 VNTR-rs1800955) and 3R-T (MAOA-u VNTR-rs6323) haplotypes were noticed from parents to probands (P = 0.02 and 0.002 respectively). Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800955 with significant main effects of DRD4 exon3 VNTR, DAT1 3′UTR and intron 8 VNTR, MAOA u-VNTR, rs6323, COMT rs4680, rs362204, DBH rs1611115 and rs1108580 thereby pointing towards a strong association of these markers with ADHD. Correlation between gene variants, high ADHD score and low DBH enzymatic activity was also noticed, especially in male probands. From these observations, an impact of the studied sites on the disease etiology could be speculated in this ethnic group.     

A rare complication from prostaglandin analogue therapy

This case describes a rare complication of prostaglandin analogue eye drops used for treatment of primary open angle glaucoma. Though increase in the number, size and pigmentation of eyelashes is well‐known, this case shows extensive hair growth in malar region, which can be unacceptable. This complication can be one of the causes of discontinuation of prostaglandin analogue therapy.     

Left ventricular function in isolated rheumatic mitral stenosis in children

A total of 18 patients with pure rheumatic mitral stenosis between the ages of eight and 14 years (average 11.8 years) were studied. Left ventricular angiograms in the right anterior oblique view were obtained in each. Moderate to severe pulmonary arterial hypertension was present in all but one. The mean left ventricular end-systolic volume index was 25.4 +/- 8.5 ml/m2; it was increased in five patients. The mean left ventricular end-diastolic volume index was 64 +/- 13.5 ml/m2. It was normal in all except one patient, in whom it was increased to 91 ml/m2. The left ventricular stroke volume index, 39.6 +/- 8.8 ml/m2, was within the normal range. The left ventricular stroke volume index, 39.6 +/- 8.8 ml/m2, was within the normal range. The mean left ventricular ejection fraction was 0.61 +/- 0.09 ml, with a range of 0.44-0.72. The mean left ventricular ejection fraction was lower than normal (P less than 0.05). The ejection fraction was low in five of the 18 patients. Four of the five patients with an ejection fraction below 0.60 had severe pulmonary arterial hypertension. There was no correlation between the ejection fraction and left atrial pressure or the mitral valve area. Segmental contraction analysis in the five patients with a low ejection fraction showed global hypokinesia in four and segmental hypokinesia, involving predominantly the posterobasal segment, in one patient. Our study suggests that even children with pure mitral stenosis may have left ventricular dysfunction in the absence of active carditis.     

Blood-aqueous barrier in prostaglandin EP2 receptor knockout mice

The role of prostaglandin EP(2) receptors in the disruption of the blood-aqueous barrier was examined using EP(2) receptor-deficient mice. Eyes were topically treated with EP receptor agonists or subjected to paracentesis. Fluorescein angiography was performed after topical treatment with 2.0 icrog butaprost. The results show that EP receptor agonists, PGE( 2) and the EP(2) receptor-selective agonist butaprost, increased aqueous humor protein in EP(2) +/+ wild-type mice to 18.0 mg/ml and 12.0 mg/ml, respectively, from the control value of 2.7 mg/ml. The increase in aqueous humor protein concentration in response to these EP receptor agonists was reduced significantly in EP(2) receptor-deficient mice. Fluorescein leakage into the anterior chamber, two minutes after its injection, was significantly greater in butaprost-treated wild-type mice than in butaprost-treated knockout mice. Protein concentration, 15 min after paracentesis, increased from 2.2 mg/ml to 25.0 mg/ml in the aqueous humor of the eyes of wild-type mice, while the increase in knockout mice was 10.6 mg/ml. These results suggest that EP( 2) and EP(4) receptors mediate the disruption of the blood-aqueous barrier induced by EP receptor agonists and paracentesis.     

Paediatric adrenocortical neoplasia — a study of 25 cases

We reviewed our experience of 25 children with adrenocortical tumours from January 1980 to December 1994. Their ages ranged from 7 months to 15 years; there were 16 girls and 9 boys. Truncal obesity, moon facies, hypertension, and virilisation were the most common clinical features. Establishment of the diagnosis of Cushing's syndrome was accomplished by hormonal and radiological studies. Eighteen patients had adrenocortical carcinomas, but 2 of them refused operation; 7 had adrenocortical adenomas. Twenty-three patients were treated by surgery; 6 with carcinomas are still alive after periods of 6 months to 3 years. The results of treatment of adrenocortical carcinoma have been poor, but the prognosis is excellent for benign lesions.     

Structure and stereochemistry of nardostachysin, a new terpenoid ester constituent of the rhizomes of Nardostachys jatamansi

The structure and stereochemistry of a new terpenoid ester, nardostachysin (1), isolated from the rhizomes of Nardostachys jatamansi, were established as the 7',8'-dihydroxy-4'-methylene hexahydrocyclopenta[c]pyran-1'-one-8'-methyl ester of 7, 9-guaiadien-14-oic acid, by spectral and chemical studies.