Neuropathological spectrum of Rasmussen encephalitis

BACKGROUND: Rasmussen encephalitis (RE) is a chronic epileptic disorder of unknown etiology, and is clinically characterized by progressive neurological deterioration, focal seizures often progressing to intractable epilepsy, cognitive decline and hemispheric atrophy. AIMS: We report the spectrum of neuropathological changes seen in RE, and discuss the evolutionary mechanisms of this disease. MATERIALS AND METHODS: Surgically obtained specimens from RE patients diagnosed during 2002-2004 at this institute were evaluated for the presence and extent of different histopathological features of RE. The H&E and immunohistochemistry stained slides were also evaluated for the type and distribution pattern of inflammatory infiltrates, along with a semiquantitative evaluation for the severity of inflammation. RESULTS: Four cases of RE were admitted during the study period, all of which presented with partial seizures with successive deterioration to intractable epilepsy. The age at onset varied between 5 and 10 years (mean 7.8 years), with three male and one female patients. Subsequently, all four patients underwent hemispherotomy. Histopathological features of perivascular lymphocytic infiltrate, neuronal loss, microglial nodules, and reactive astrocytosis, with or without evidence of neuronophagia confirmed a diagnosis of RE. These cases also had varying degrees of T-cell-rich (CD3-positive) inflammatory infiltrates and CD68-immunopositive microglial proliferation. It was observed that the severity of inflammation had a trend to inversely correlate with the duration of symptoms. CONCLUSION: It is proposed that an accurate evaluation and histopathological grading of these lesions may possibly have a role in patient prognostication.     

Decompressive percutaneous endoscopic gastrostomy in nonmalignant disease

BACKGROUND: Percutaneous endoscopic gastrostomy is the standard for long-term enteral access. It can provide enteral nutrition or gastrointestinal decompression. Utilization of the gastrostomy for decompression has traditionally been reported in the setting of malignant obstruction. However, decompressive gastrostomy can play a role in the treatment of nonmalignant bowel dysfunction as well. METHODS: Over a 2-year period, 20 of 121 percutaneous endoscopic gastrostomies attempted by this surgical endoscopist were for gastrointestinal decompression. RESULTS: Eleven of 18 gastrostomies successfully placed for decompression were for benign conditions. In 5 patients with fistulous disease, the purpose of decompression was to divert the gastrointestinal tract until operative repair. Four of these patients have since undergone definitive surgery. CONCLUSIONS: This series presents the successful use of the percutaneous endoscopic gastrostomy for decompression of nonmalignant conditions. In such scenarios, the drainage gastrostomy can be employed as a bridge to future surgery, or as a means of long-term decompression for bowel dysfunction.     

Pigmented trichoblastoma: report of a rare case

Trichoblastoma is a rare benign skin appendage tumour with follicular differentiation. Pigmented variant of trichoblastoma is an extremely uncommon tumour and only three cases have been described in the literature. We report a rare case of pigmented trichoblastoma in a 54-year-old female.     

Identification of novel mutations in FOXL2 associated with premature ovarian failure

Premature ovarian failure (POF) affects approximately 1% of women and is known to be caused by sex chromosome abnormalities, iatrogenic agents and autoimmune diseases, but in the majority of cases the cause is unknown. However, several families have been identified as having an inherited predisposition to POF, suggesting a genetic component to the condition in these cases. The FOXL2 gene of 70 POF patients from New Zealand and Slovenia was screened for mutations. In a Slovenian POF patient, a novel 30 bp deletion was identified that was predicted to remove 10 out of 14 alanines (A221_A230del), from the polyalanine tract downstream of the winged helix/forkhead domain of the FOXL2 protein. A novel single nucleotide substitution, 772(1009)T>A, which is predicted to change amino acid 258 from tyrosine to asparagine (Y258N), was identified in a New Zealand POF patient. Neither mutation was identified in 200 normal control chromosomes from 100 control samples. Three previously unreported single nucleotide substitutions, considered to be non-functional polymorphisms, were also identified.     

Single incision for implanting a vagal nerve stimulator system (VNSS): technical note

BACKGROUND: A technique for implanting the vagal nerve stimulator system through a single incision is described.METHOD: A transverse incision is made in the lower part of the neck. Subcutaneous (s.c.) dissection is then done over the clavicle into the infraclavicular area to create a pocket. The vagus nerve is exposed and the electrodes are wrapped around it through the neck incision. The distal ends of the lead are connected to the pulse generator, and latter is then placed in the infraclavicular pocket through the neck incision.RESULTS: Thirty-eight implants were conducted with this technique. The pulse generator could be implanted and anchored to the underlying tissue without any difficulty. Except for wound infections in two patients there was no other complication.CONCLUSION: A single incision is an alternate to the double incision procedure. This procedure can be performed safely.     

Metabolic clearance rate of dehydroisoandrosterone sulfate. VI. Studies of eclampsia.

The metabolic clearance rate of dehydroisoandrosterone sulfate (MCRDS) was measured in 11 women during an eclamptic episode, and the subjects were then followed for at least 5 years. The MCRDS was usually decreased in primigravid women with eclampsia. However, in eclamptic primigravid women who later developed essential hypertension and/or recurrent hypertension in subsequent pregnancies the MCRDS was elevated. Also, in multiparous women with chronic essential hypertension plus superimposed eclampsia, the MCRDS was increased to above normal values.