Infantile Galactosialidosis with Novel Mutation: An Early Presentation.

Galactosialidosis (GS) is a rare lysosomal storage disorder. We reported here, the case of a 29-day-old boy who had increased body swelling, difficulty breathing, and petechiae on the trunk since birth. The antenatal history was unremarkable. Clinical laboratory findings included coarse facies, hepatosplenomegaly, gross ascites, thrombocytopenia, nephrotic range proteinuria, and bilateral hydronephrosis. The diagnostic challenge was resolved after genetic testing, which revealed GS with a novel homozygous c.1158dupA mutation.

Use of bactec 460 TB system in the diagnosis of tuberculosis.

PURPOSE: To evaluate, the efficacy of BACTEC 460 TB system for the diagnosis of tuberculosis in a tertiary care hospital in Mumbai, India. METHODS: We compared 12,726 clinical specimens using BACTEC 460 TB system and conventional method for detection of Mycobacterium tuberculosis over a period of six years. RESULT: The overall recovery rate was 39% by BACTEC technique and 29% using Lowenstein-Jensen (LJ) medium. An average detection time for B actec0 460 TB system was found to be 13.3 days and 15.3 days as against 31.2 days and 35.3 days by LJ method for respiratory and nonrespiratory specimens respectively. The average reporting time for drug susceptibility results ranged from 6-10 days for the BACTEC 460 TB system. CONCLUSIONS: The BACTEC system is a good system for level II laboratories, especially in the diagnosis of extrapulmonary and smear negative tuberculosis.

Evaluation of a new phage amplification technology for rapid diagnosis of tuberculosis.

PURPOSE: Rapid diagnosis of tuberculosis is essential to initiate timely and appropriate treatment to curb the spread of this potentially life threatening disease. The purpose of this study was to evaluate a phage amplification technology viz., FASTPlaque TB, for the diagnosis of tuberculosis. METHODS: We evaluated the clinical utility of this new assay by analyzing 50 respiratory and 40 non-respiratory specimens, using FASTPlaque TB kit (Biotec Laboratories, UK) and the performance was compared with TB Bactec 460 semi-automated liquid culture system and conventional LJ culture method. RESULTS: In case of respiratory specimens phage assay gave good specificity (100%) compared with TB Bactec whereas with respect to LJ method the sensitivity and specificity were 93.1% and 88.2% respectively. In case of non-respiratory specimens comparison of results obtained by phage assay showed sensitivity of 90.9% and specificity of 88.8% with respect to TB Bactec and 87.5% and 93.8% with respect to LJ method. CONCLUSIONS: We believe that this new low cost assay may have widespread applicability, especially in developing countries, due to its manual format and rapid reporting of results.

Rapid detection of rifampicin resistance in M. tuberculosis by phage assay.

Increase in multidrug-resistant M. tuberculosis (MDR-TB) has become a great cause of concern and rifampicin resistance is considered to be a good predictor of MDR-TB in many parts of the world. Its rapid detection will allow alteration in treatment regimens in time to reduce the spread of the disease. Detection of rifampicin resistance by phage assay is a useful tool as mycobacteriophages are specific for M. tuberculosis complex and detect viable cells only. In our study, we analyzed 85 samples for rifampicin resistance using a novel mycobacteriophage based test (Phage assay) and radiometric BACTEC 460 TB. Of the 85 samples, 70 (82.35%) were resistant and 12 (14.10%) were sensitive by both methods. Our study yielded a sensitivity and specificity of 100% and 80% respectively. A good correlation was observed with conventional LJ proportion method. We conclude that phage assay allows determination of rifampicin resistance within 48 hours from culture, reducing the time taken to define susceptibility results by BACTEC 460 TB and LJ proportion method (5-7 days and 6-8 weeks respectively).

Neuron-enriched second trimester human cultures: growth factor response and in vivo graft survival.

Grafts of first trimester fetal tissue show limited survival and integration in the adult CNS. Alternative grafting strategies have been sought for treatment of neurodegenerative disease. We have developed cultures of human second trimester fetal tissues to study neuronal differentiation. Grafted into the SCID mouse striatum, aggregates of these cultures formed neuron-rich xenografts for at least 8 months. We examined the influence of various neurotrophic factors, including basic fibroblast growth factor (bFGF), brain-derived neurotrophic factor (BDNF), transforming growth factor-beta 1 (TGF-beta1), and hepatocyte growth factor (HGF), on the growth and differentiation of neuronal and glial cell populations. BDNF promoted the survival and differentiation of second trimester neurons whereas bFGF exhibited a strong proliferative effect on precursors and the astroglial population. Our data suggest that second trimester human fetal cultures contain neuroprogenitor cells that can be directed to the neuronal lineage. This process may be amplified by treatment with BDNF, which we hypothesize could improve the long-term in vivo survival of neuron-enriched grafts.

A murine model of HIV encephalitis: xenotransplantation of HIV-infected human neuroglia into SCID mouse brain.

The degree of neuronal damage in HIV encephalitis (HIVE) and the mechanisms leading to it are not known. Post-mortem human studies provide limited information concerning pathogenesis, and there are few animal models of HIVE. We have developed a murine model of HIVE based on HIV-infected human brain tissues grafted within the host CNS milieu. HIV-infected blood-derived macrophages were cocultured with and incorporated within second trimester human fetal brain neuroglia. Mixed neuronal-glial aggregates were injected into the striatum of SCID mice where they survived for more than 6 months. Cellular proliferation and differentiation were determined by immunohistochemical staining for proliferating cell nuclear antigen and cellular markers. Synapse formation was seen by immunocytochemistry for synapsin and by electron microscopy. Virus was detected by immunohistochemical staining for HIV gp41. Based on the long-term survival of human neuroglial xenografts containing HIV infected macrophages, we believe that this model will support the study of chronic HIV-associated neurodegeneration and the testing of various CNS targeted therapeutic interventions.

Comparative study of amoxycillin and amoxycillin/clavulanic acid in lower respiratory infections.

A comparison of oral amoxycillin (500 mg tds) with amoxycillin/clavulanic acid (Augmentin; 750 mg tds) for 7 to 10 days was completed in 76 patients with lower respiratory infection. In another 9 patients, intravenous Augmentin alone was administered (1.2 g 8 hourly) for 3 days followed by oral doses as above for 7 days. In 50 (59%) patients the underlying chronic lung disease was bronchiectasis. Clinical improvement (1 + or more) was seen in 66% with amoxycillin, 60% with oral Augmentin and 56% with IV Augmentin. For radiographic improvement the respective figures were 47, 53 and 44 per cent. Bacteriologically, elimination was seen in 8% with amoxycillin and 45% with Augmentin (P less than 0.01), while partial success was seen in 16 and 24 per cent respectively. While for gram positive organisms, both drugs were similar in efficacy, for gram negative strains the overall success was 27% with amoxycillin and 67% with Augmentin. The main organisms isolated were Str pneumoniae (12), Klebsiella (41), Pseudomonas (21), E coli (9), Haemophilus (7) and Staph aureus (6). For bacteriologic sensitivity and consequent success, Augmentin may be superior in respiratory infections.

Lactobacillus acidophilus inhibits growth of Campylobacter pylori in vitro.

Campylobacter pylori has been implicated as a causative factor in acid-peptic disease. Lactobacillus acidophilus is known to inhibit the growth of pathogens in the human gastrointestinal tract. We recovered C. pylori from gastric antral biopsies of seven patients with acid-peptic disease; the isolates were then cultured in brucella broth. The effect of L. acidophilus (cultured in DeMan-Rogosa-Sharpe broth) on the growth of C. pylori was tested by a mixed culture technique. L. acidophilus inhibited the growth of all seven isolates of C. pylori in vitro. All these isolates were also inhibited by the L. acidophilus culture supernatant (brucella blood agar cup technique) obtained at or after 48 h of incubation. Inhibition of C. pylori growth was also observed with 1 and 3% lactic acid but not with 0.5 and 1% hydrogen peroxide, the L. acidophilus sonic extract, or a citrate-phosphate buffer (pH 4.0). We conclude that the inhibitory action of L. acidophilus on C. pylori is dependent on an extracellular secretory product, probably lactic acid. This inhibitory effect may be of therapeutic relevance in patients with C. pylori-positive acid-peptic disease.

Kinetic study of sulfide leaching by galvanic interaction between chalcopyrite, pyrite, and sphalerite in the presence of T. ferrooxidans (30 degrees C) and a thermophilic microorganism (55 degrees C).

A systematic, kinetic study and comparison of the leaching of mixed metal sulfides by galvanic conversion and in the presence of bacteria has been carried out for the first time using both powder (-100 to -400 mesh) and larger (bulk) specimen systems. The rates of dissolution of copper from chalcopyrite and zinc from sphalerite as single, electrically isolated (separate) systems were compared with electrically contacting (galvanically coupled) systems involving CuFeS(2)/FeS(2) and ZnS/FeS(2), with and without bacteria and at temperatures of 30 and 55 degrees C. The dissolution of Cu was observed to increase by a factor of 4.6 when the galvanic leaching of CuFeS(2)/FeS(2) was compared to CuFeS(2) leaching at 30 degrees C. When bacteria were present, Cu dissolution increased by an additional factor of 2.1 in the CuFeS(2)/FeS(2) system. At 55 degrees C, the corresponding ratios for Cu were 4.3 and 2.7, respectively. The galvanic leaching of Zn in the ZnS/FeS(2) system compared to ZnS leaching increased by a factor of 2 at 30 degrees C; in the presence of bacteria the dissolution of Zn from the ZnS/FeS(2) system increased by an additional factor of 1.3 at the same temperature. By comparison, the ratio of Cu dissolution from CuFeS(2) in acid-bacterial medium and sterile controls (without bacteria) was 5.5. The corresponding ratio for Zn from ZnS was 2.2 at both 30 and 55 degrees C. The order of reaction was found to be essentially first order for the leaching of powder systems at both 30 and 55 degrees C (with T. Ferrooxidans and thermophilic microorganisms, respectively). The corresponding reaction rate constants were observed to be 12.6 and 22.9 for T. ferrooxidans and the thermophilic microorganisms, respectively. Activation energies for the various systems were also determined.

Acute amoebic dysentery due to free-living amoebae treated with methronidazole.

A case of non-fatal acute amoebic dysentery without symptoms of meningoencephalitis, due to free-living amoebae possibly of the genus Acanthamoeba, is reported. The disease was diagnosed by the presence of motile amoebae in the fresh, wet preparation of the stool. The case was treated successfully with metronidazole.