An unusual parasagittal tumour with acute blindness and response to cerebrospinal fluid shunting.

We report a seven-year-old girl who presented with a sudden tumor apoplexy due to a parasagittal hemangiopericytoma. Following tumor excision, the child was noted to have bilateral optic nerve dysfunction and progressive papilledema, despite rapid overall neurological improvement. Based on the clinical features, we feel that this case represents an unusual form of visual deterioration related to impaired CSF absorption somehow precipitated by the acute tumour apoplexy. This unusual case of blindness responded significantly to CSF shunting. Several reports exist describing raised intracranial pressure with papilledema caused by nonthrombotic sinus occlusion due to tumors in proximity to the posterior superior sagittal sinus, torcular herophili and the jugular outlet. Communicating hydrocephalus, pseudotumor syndrome or intracranial venous sinus obstruction should be considered when otherwise inexplicable visual loss coexists with optic nerve dysfunction and papilledema. We emphasize the importance of a thorough search for the cause of visual loss.     

cDNA Sequencing of the 5′ Noncoding Region (5′ NCR) to Determine Hepatitis C Genotypes in Patients with Chronic Hepatitis C

Reports suggest that response tointerferon-alpha therapy is influenced by both hepatitisC viral genotype and titer. Our aim was to determine ifdirect, automated, cycle sequencing of the PCR productfrom an HCV RNA detection assay could be used toreliably determine HCV genotype. In addition, theapproach was used to determine the HCV genotypedistribution in our patient population and to learn ifthere was a correlation between HCV genotype and RNAtiter that could be used to predict response totreatment. In all 143 consecutive patients were testedfor both HCV RNA titer and genotype. Automated, cycle sequencing of PCR product was highly effectiveand failed to yield a genotype in only 3 (2%) patients.The distribution of HCV genotypes was: 1a (40%), 1b(39%), 2a (2%), 2b (6%), 3a (4%). There were significant differences in the median HCV RNA titersbetween genotypes 1, 2, and 3. 6 High HCV RNA titers>4.4 × 10⁶ copies/ml were only seenin genotype 1. However, the HCV RNA level should not beused as a surrogate marker of genotype because of a significantoverlap of titers within the genotypes.     

Surgical management of trismus due to Oral Submucous Fibrosis — Lysis of fibrotic bands with the KTP-532 Laser

Oral Submucous Fibrosis is an insidious, chronic disease affecting the oral cavity, sometimes the pharynx and rarely the tongue. 15 patients with Oral Submucous Fibrosis presenting with severe trismus were treated with lysis of the fibrotic bands with a KTP-532 Laser and adjunctive treatment with excellent results over a 12 month follow-up period.     

Antifungal potential of disulfiram.

Disulfiram, an alcohol antagonistic drug has been on the market since 1949 with 80% bioavailability and an established safety profile. Recently it has been reported as a P-glycoprotein efflux pump modulator. Herein we report its antifungal potential. The MIC50 and MIC90 of disulfiram for yeast isolates is 4 and 8 microg/ml, respectively, and the MIC range is 1-16 micro g/ml for both fluconazole sensitive and resistant strains. Interestingly, disulfiram also showed fungicidal activity on Aspergillus spp. with MIC50 and MIC90 of 2 and 8 microg/ml, respectively.     

A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus

A locus for recessive neurosensory nonsyndromic hearing impairmentmaps to chromosome 9q13–q21 in two regionally separateconsanguineous families from India. Each family demonstratesa LOD score greater than 4.5 to this region. D9S15, tightlylinked to the Friedreich's ataxia locus, a region that has beendefined with over 1 Mb of YAC contig information and severalexpressed sequences, is one of the flanking markers. In mice,the deafness (dn) locus maps to mouse chromosome 19 and flankingloci are syntenic to human chromosome 9q11–q21. The dnmouse is a potential model for the hearing impairment foundin both these families.     

Fine-needle aspiration (FNA) cytology diagnosis of small round cell tumors: value and limitations

Small round cell tumors (SRCTs) are a group of malignancies (non-Hodgkin lymphoma, neuroblastoma, retinoblastoma, hepatoblastoma, nephroblastoma, rhabdomyosarcoma, small cell anaplastic carcinoma, Ewing sarcomal peripheral neuroectodermal tumor, and desmoplastic small round cell tumor), characterized both cytologically and histologically by a predominantly small round to oval, and relatively undifferentiated cells. Together they form a formidable group and an overwhelming majority of childhood malignancies. The patients may present in later (inoperable) stage with huge intrathoracic and intraabdominal mass, when chemotherapy and/or radiation therapy may be the first or only line of treatment. As a less invasive procedure fine needle aspiration (FNA) cytology has definite advantage over surgical excision biopsy to arrive at a tissue diagnosis before initiation of therapy. Because of the morphologic similarities, the SRCTs may pose a differential diagnostic problem in the practice of clinical cytology, especially when they are poorly differentiated. Important cytomorphological features, which help in the identification of various SRCTs include completely dissociated cell population and lymphoglandular bodies (cytoplasmic fragments) in non-Hodgkin lymphoma (NHL), eosinophilicfibrillar material and Homer-Wright rosettes along with cellular processes in neuroblastoma, acinar formation in hepatoblastoma, blastema cells with tubular differentiation in nephroblastoma, tadpole shaped cells in embryonal rhabdomyosarcoma, extreme nuclear molding and perinuclear blue inclusion in small cell anaplastic carcinoma (SCAC), irregular, punched out and large cytoplasmic vacuolations due to glycogen in Ewing sarcoma, and sheets of undifferentiated small round cells surrounded by collageneous stroma in desmoplastic small round cell tumor (DSRCT). Some of these features such as nuclear molding, rosette, and acinar formation are noticed in more than one type of SRCTs. Moreover, the characteristic cytomorphological features may be present in 70-80% cases and for categorization of the remaining cases, contribution from ancillary studies is essential. It is suggested that cytomorphological features along with one or more of the parameters such as special stains (cytochemistry), immunocytochemistry (ICC), electron microscopy (EM), tissue culture, DNA ploidy, karyotype and molecular analysis can increase the diagnostic accuracy of SRCTs. However, these facilities may not be available in all the laboratories, especially in the developing countries, and even if available in a limited form, a tissue diagnosis has to be offered often by FNA cytology based on morphological features, as a life saving measure in seriously ill patients before the results of ancillary studies are finalized.