Juvenile hyaline fibromatosis in siblings

Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder. We report two siblings with multiple large tumors on the scalp, translucent papules on the nape of the neck, hypertrophic gingiva, and severe flexural contractures of large joints. The histopathology from the skin lesions showed features characteristic of juvenile hyaline fibromatosis. The cases are being reported on account of the extreme rarity of the condition.     

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.     

Insulin-like Growth Factor Binding Protein 3 in Inflammatory Bowel Disease

Epithelial cell growth regulation has been reported to be altered in inflammatory bowel disease (IBD) patients. The cell growth regulatory factor, insulin-like growth factor binding protein 3 (IGFBP-3), may be partly responsible for this phenomenon. So far, IGFBP-3 levels have been assessed as values of total protein, which is a sum of bioactive intact 43- to 45-kDa protein and its inactive proteolytic cleavage fragments. We aimed to assess the levels of intact IGFBP-3 and its cleaving protease MMP-9 in IBD. Patients with IBD and controls were included. Total plasma IGFBP-3 concentration was measured in ELISA. Western blot analysis, which distinguishes between intact and cleaved IGFBP-3, was performed in order to determine the ratio of intact to total protein; this ratio was used to calculate the concentration of intact IGFBP-3. The profile of plasma proteases was evaluated in zymography and MMP-9 levels were determined in ELISA. The concentration of intact IGFBP-3 was significantly decreased in patients with moderate to severe IBD activity compared to those in remission or controls. Of note, a dramatic depletion of intact IGFBP-3 was found in 7.4% of patients with IBD. Zymography revealed that the dominant gelatinase was the pro-form of MMP-9. However, no differences in MMP-9 levels were noted between those with active disease and controls. The level of intact IGFBP-3 is decreased in IBD patients with moderate to severe disease activity. This decrease may be linked to altered IGFBP-3 production or to increased cleavage by proteases other than MMP-9.     

Liver biopsy: evolving role in the new millennium

Since the origination of the liver biopsy, the technique has evolved into an essential diagnostic tool, with very few complications. In addition to the percutaneous approach, a liver biopsy can also be obtained via transjugular, laparoscopic, or intraoperative approach. While in the early 1960s and 1970s the liver biopsy was used for making a diagnosis in cases of clinically suspected medical liver disease, today it is more often performed to assess disease prognosis and evaluate therapeutic strategies. As a result, indications for the liver biopsy have evolved over the past 2 decades. However with advances in serologic diagnosis of viral/autoimmune hepatitis and laboratory tests for genetic disorders, the role of liver biopsy in certain clinical settings is currently debated. This review discusses the technique, indications, contraindications, and the changing role of liver biopsy in some of the common disorders and the associated controversies.     

Chemiluminescence technique for measuring reactive oxygen species

Accurate assessment of reactive oxygen species (ROS) concentrations may help in the diagnosis of infertility. The chemiluminescence technique, which uses a luminometer to measure ROS, is a common method of assessment. A better understanding of the chemiluminescence technique will allow its proper application in reproductive medicine. A wide range of luminometers are available in the market, and laboratories should select the instruments that suit their individual needs.     

Lipoma of the retropharyngeal space

Lipoma in retropharyngeal space is rare. A case of lipoma in the retropharyngeal space of a paediatric patient is reported with characteristic radiological findings along with surgical management.     

Trends in neonatal septicemia: emergence of non-albicans Candida

In a prospective analysis, blood from 660 neonates admitted to neonatal Intensive Care Unit (NICU) of a teaching hospital with clinical suspicion of septicemia was cultured to look for etiological agents with particular reference to role of Candida species. Blood culture specimens from two different sites at same time were obtained to rule out possibility of a Candida isolate being a mere contaminant. Due to technical difficulties, this was possible in only 338 neonates (Group I); from remaining 322 neonates only single specimen was available (Group II). Candida was isolated from total 90 neonates (isolation rate 13.6%) and it was the single most common isolate. Majority were non-albicans Candida (germ tube test negative - 76/90). In group I, Candida was isolated from 66 neonates, of these 49 grew Candida in both specimens (significant candidemia). 44 records were available for analysis. Low birth weight was found in 73.3%. Crude mortality was 52.6%. A peak in isolation rate of Candida was noted (isolation rate 27%, p<0.05) in month of February. In Group I, 49 of the total 66 (74.2%) isolates of Candida were significant, suggesting that three in every four Candida isolated from blood can be significant. Non-albicans Candida are emerging as important pathogens for neonatal septicemia.     

Effect of fortification with human milk fortifier (HMF) and other fortifying agents on the osmolality of preterm breast milk

This study was conducted to test the effect of fortification with human milk fortifier (HMF), low birth weight (LBW) formula and coconut oil, initially and upon subsequent storage, on the osmolality of preterm breast milk. Milk samples (n = 48) were collected from mothers (n = 25) delivered at 34 pounds weeks and fortified with HMF (Lactodex-HMF), LBW formula (Lactodex-LBW) and edible coconut oil. Osmolality was measured before and after fortification and after 6 hours,.The gestation and birth weight (median) was 31 (range 29-32) weeks and 1198 (range 716-1478) grams. The median (range) postnatal age at testing was 15 days (range 3-60 days). There was a significant increase in osmolality of breast milk (302.3 +/- l.82) after addition of HMF (392.9 +/- 3.01) and LBW formula (390.5 +/- 2.4). There was no change in osmolality with addition of coconut oil (304 +/- 1.6). There was no further change in the osmolality after 6 hours of storage at 4 degrees C.