Gallbladder cancer incidence in Gwalior district of India: Five-year trend based on the registry of a regional cancer center.

BACKGROUND: We have reported here the 5-year incidence (2004–2008) of gallbladder cancer (GBC) in North Central India along with its descriptive epidemiology. This provides potential clues for better prevention. The present study has also evaluated the association of ABO blood groups with GBC. PATIENTS AND METHODS: The study comprised 742 GBC cases referred to the regional cancer hospital, Gwalior, during 2004–2008. The demographic statistics of Gwalior district was considered to calculate the relative risk and incidence rates. ABO blood group distribution amongst 90,000 healthy subjects registered in the local blood bank during 2002–2007 was taken as controls to study the association of blood groups with GBC. RESULTS: The age-standardized total incidence rate of GBC was calculated to be 7.16/1,00,000. The relative risk of females getting GBC was 2.693 at 95% confidence interval of 2.304–3.151 (P < 0.0001). The females formed 69.5% of total cancer cases, with age-standardized incidence rate of 10/1,00,000. The mean age of male and female GBC cases was found to be 55.4 years (SD = 13, SE = 0.77) and 51.5 years (SD = 12.3, SE = 0.50), respectively. The blood groups A (P = 0.0022) and AB (P < 0.0001) had a positive association with GBC with significant level of differences in comparison to controls. CONCLUSION: Our study provided an estimate of a 5-year incidence of GBC in North Central India for the first time. With regard to the association of risk factors like obesity, age, and urban living with GBC, the findings of the present study are contradictory to the general opinion. Blood groups A and AB were found to be associated with GBC, which would be provisional for further investigations.

The liver function test enzymes and glucose level are positively correlated in gallbladder cancer: A cancer registry data analysis from north central India.

Aim of Study: To investigate the trend of expression of liver function test enzymes and other biochemical changes during gallbladder carcinogenesis. Materials and Methods: Eight hundred and seventy-eight gallbladder disease patients were selected to study the liver function test enzymes and routine blood biochemical changes in the last five years (2004-08). Statistical analysis was performed using Graph Pad prism® 5.02 software. Results: The liver function test enzymes showed significant correlations among themselves, and with glucose in gallbladder cancer and gallstone disease patients (N = 878). Out of 878 gallbladder cases, 46 (5.24%) showed significantly higher glucose level of 216.66 mg/dL (P < 0.0001). All the three pathological conditions of gallbladder, gallbladder cancer with stones (GBCS), gallbladder cancer without stones (GBC) and calculus cholecystitis (CC), showed highly significant positive correlation (Pearson) between Serum Glutamic Oxaloactetic Transaminase (SGOT) and Serum Glutamic Pyruvic Transaminase (SGPT) [P < 0.0001, (GBCS); P < 0.0001, (GBC), and P < 0.0001, (CC)]. SGOT and SGPT also showed positive correlation with higher glucose level independently, in both GBCS and CC (P < 0.0001 and P < 0.0001), respectively. Conclusion: Simultaneous elevation of glucose and liver function test enzymes in GBC makes the diagnosis complex. Any patient of gallbladder diseases with higher level of glucose may have the possibility of developing gallbladder cancer.

DAZL 260A>G and MTHFR 677C>T variants in sperm DNA of infertile Indian men.

DAZL (deleted in azoospermia-like) 260A>G and MTHFR (methylene tetrahydrofolate reductase) 677C>T are two important autosomal variants associated with impaired spermatogenesis. In this study, we investigated DAZL 260A>G and MTHFR 677C>T variants in sperm DNA and their frequency in oligozoospermic infertile men of Indian origin. The study on sperm DNA was performed, since it is more prone to oxidative stress-induced damage and mutation. One hundred oligozoopsermic infertile men having normal chromosomal complement with intact Y chromosome and 100 age- and ethnically-matched fertile controls were investigated for these variants in their sperm genome. Spermatozoa were separated by gradient centrifugation and DNA was isolated and analyzed for the single nucleotide polymorphisms (SNPs) by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The results showed no significant differences in the frequency of DAZL AG (P = 0.58) and MTHFR CT (P = 0.44) between oligozoospermic infertile men and controls. However, 8% (8/100) oligozoospermic infertile men harbored both the variants and showed significantly (P<0.0001) lower sperm count (3.28 ± 1.1 vs 12.50 ± 4.09) compared to infertile men with either of the single variant. None of the fertile controls showed the presence of the both variants. In conclusion, the combined effect of both DAZL 260A>G and MTHFR 677C>T variants may have role in compromised sperm count. However, further studies are required to find the pathological role of these combined variants in male infertility.

Morquio Syndrome in Two Siblings: A Case Report.

Morquio syndrome is a rare inherited autosomal recessive disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues. It is rare cause of dwarfism. Many pediatricians therefore are unlikely to see this case hence may miss the diagnosis due to lack of experience. With this view we report two siblings with this dwarfism highlighting the classical clinical and radiological presentation.

Clinico-Radiological Spectrum of Neuronal Migrational Disorders: A Study of Paediatric Patients in the Western Region of Nepal.

Objective: This study was conducted in a tertiary care paediatric hospital to ascertain the spectrum of clinical and radiological features of Neuronal Migrational Disorders in children. The role of inheritance in Neuronal Migrational Disorders is under intense investigation. Studies on Neuronal Migrational Disorders (NMDs) in children from developing countries are lacking. Method: Retrospective analysis of records of diagnosed cases by neuroimaging as Neuronal Migrational Disorders in the Department of Paediatrics. Results: Eighteen Children (2days to 8years age) with different types of neuronal migrational disorder based on neuro-imaging were included. Observed anomalies included Lissencephaly (33.3%), Pachygyria (16.6%), Polymicrogyria (5.5%), Heterotopia (11.1%), Schizencephaly (22.2%) and Hemimegalencephaly (5.5%). Focal Seizure in 5 (27.7%) cases, Generalised Tonic Clonic Seizures in 3 (16.6%) and Myoclonic Seizure in 2 (11.1%) cases were the types of seizure present in 10 (55.5%) patients. Five patients presented with Quadriparesis, two with Hemiplegia and one with Congenital Talipes Equinovarus. All the eighteen patients had some degree of Cognitive Developmental Delay. Conclusion: Lissencephaly is the most common type of Neuronal Migrational Disorder followed by Schizencepahly. Focal Seizure and Quadriparesis were the common manifestations. Family history of similar cases with parental consanguinity in Schizencephaly cases gives a clue to the autosomal recessive mode of inheritance. Family history of similar cases of Schizencephaly without any history of consanguinity indicates an autosomal pattern of inheritance.

Developmental study of thermotolerance and the heat shock response in Lucilia cuprina (Weidemann).

The ability to withstand thermal stress in a laboratory population of the blowfly Lucilia cuprina (measured as per cent adult survival following varying periods of exposure to elevated temperature up to a maximum of 48°C) was in the order pupa > larva > adult. Pre-exposure to a mild heat shock (37°C) induced tolerance to temperatures which were otherwise lethal. An analysis of heat shock-induced protein synthesis during development at similar elevated temperatures presented patterns corresponding to the above observations on thermotolerance. The induced level of synthesis of major heat shock proteins (viz., 79, 69, 28, 20 and 19 kDa) were greater in larval tissues than in most of the adult tissues except gonads. The response varied between young (2 days) and old (30 days) adults in a tissue-specific manner. In general, heat shock protein 69 kDa was most abundant in all the tissues studied. Control as well as heat shocked Malpighian tubules of adults uniquely showed two major [35S]methionine labelled bands corresponding to approximately 62 and 64 kDa. Immunoblots showed the 62 kDa protein to cross react with an antibody against Helioihis HSP60. Although the synthesis of the 62 kDa polypeptide was prominent only in Malpighian tubules of adult blowflies, nearly equal levels of this HSP60 family polypeptide were present in all tissues (control as well heat shocked) except the larval salivary glands.

Restriction enzyme digestion of heterochromatin in Drosophila nasuta.

In situ digestion of metaphase and polytene chromosomes and of interphase nuclei in different cell types of Drosophila nasuta with restriction enzymes revealed that enzymes like AluI, EcoRI, HaeIII, Sau3a and SinI did not affect Giemsa-stainability of heterochromatin while that of euchromatin was significantly reduced; TaqI and SalI digested both heterochromatin and euchromatin in mitotic chromosomes. Digestion of genomic DNA with AluI, EcoRI, HaeIII, Sau3a and KpnI left a 23 kb DNA band undigested in agarose gels while with TaqI, no such undigested band was seen. The AluI resistant 23 kb DNA hybridized in situ specifically with the heterochromatic chromocentre. It appears that the digestibility of heterochromatin region in genome of Drosophila nasuta with the tested restriction enzymes is dependent on the availability of their recognition sites.

In situ study of chorion gene amplification in ovarian follicle cells of Drosophila nasuta.

The temporal and spatial pattern of replication of chorion gene clusters in follicle cells during oogenesis in Drosophila melanogaster and Drosophila nasuta was examined by [3H] thymidine autoradiography and by in situ hybridization with chorion gene probes. When pulse labelled with [3H] thymidine, the follicle cells from stage 10-12 ovarian follicles of both Drosophila melanogaster and, Drosophila nasuta often showed intense labelling at only one or two sites per nucleus. In situ hybridization of chorion gene probes derived from Drosophila melanogaster with follicle cell nuclei of Drosophila melanogaster and Drosophila nasuta revealed these discrete [3H] thymidine labelled sites to correspond to the two amplifying chorion gene clusters. It appears, therefore, that in spite of evolutionary divergence, the organization and programme of selective amplification of chorion genes in ovarian follicle cells have remained generally similar in these two species. The endoreplicated and amplified copies of each chorion gene cluster remain closely associated but the two clusters occupy separate sites in follicle cell nucleus.