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S Haque

Publications and source records attributed to S Haque.

At least 19 recordsLinked to original sources
PubMed2006

The effect of the apolipoprotein E gene polymorphisms and haplotypes on behavioural and psychological symptoms in probable Alzheimer's disease.

BACKGROUND: Patients with Alzheimer's disease and dementia commonly suffer from behavioural and psychological symptoms of dementia (BPSD). A genetic component to BPSD development in Alzheimer's disease has been demonstrated. Several studies have investigated whether the exon 4 epsilon2/epsilon3/epsilon4 haplotype of the apolipoprotein E (APOE) gene is associated with BPSD, with variable results. OBJECTIVE: We investigated the exon 4 polymorphisms and extended this study to include promoter polymorphisms and the resultant haplotypes across the gene. METHODS: Our large independent cohort of 388 patients with longitudinal measures of BPSD assessed by the Neuropsychiatric Inventory was used to analyse whether any of these variants were associated with the presence of BPSD. RESULTS: We revealed several significant relationships before correction for multiple testing. The exon 4 haplotype was associated with hallucinations and anxiety, A-491T with irritability, T-427C with agitation/aggression and appetite disturbances, and T-219C with depression. Haplotype analyses of all variants did not reveal any statistically significant findings. CONCLUSIONS: Our data and a review of previous studies showed a diversity of relationships, suggesting that these findings might be due to chance and so collectively do not support a role for the APOE gene in BPSD.

Aged↗
PubMed2006

Pattern of local relapse of maxillary sinus carcinoma.

Maxillary sinus carcinoma (MSC) is a rare disease with a variety of treatment options. The present study was undertaken to review the outcome of patients with treated MSC in order to clarify the factors related to local recurrence by analyzing CT findings. The study group comprised of 47 cases, 40 males and 7 females with a median age of 61 years (range, 40- 84 years) treated between 1988 to 1996 at the department of radiotherapy. CT was taken with a slice thickness of 5 mm and contrast material was routinely used. The mean follow-up period for the group was 45.0 months (range, 3-125 months). The treatment policy was either preoperative radiotherapy of 40Gy/16fr followed by maxillectomy or radical radiotherapy of 65Gy/26fr with partial maxillectomy during the course of radiotherapy. By using CT-simulation, wedge pair techniques were used in most patients with Cobalt or 6MV X-ray machines as treatment sources. Tumor extension was categorized into the following anatomical sites: orbital contents, other paranasal sinuses, posterior wall of the maxillary sinus, pterygoid plate/muscle, nasopharynx, infra-temporal fossa, base of the skull, anterior wall of the maxillary sinus, subcutaneous tissue, cheek mucosa, hard palate and alveolar bone. Local control was computed by using the Kaplan-Meier method and p value was measured by using Chi-squared test. The 5-year overall local control rates for all patients were 56%. The local recurrence was found in 19 of 47 patients (40.4%). Tumors extending to pterygoid plates (n=13) and pterygoid muscles (n=10) showed higher rate of local recurrences as compared to those without extensions (9/13 [69%] vs 10/34 [29%], p<0.02 and 7/10 [70%] vs 12/37 [32%], p<0.05, respectively). Extensions to nasopharynx (6/9, 66%) and base of skull (4/6, 66%) also showed higher rates of recurrence; however, those were not statistically significant. More than 80% of the relapse became manifest within 12 months of diagnosis and isolated local failure was the most common pattern. This analysis indicates that tumor extension to pterygoid plate/muscles, results in higher rates of recurrences. This may due to the difficult surgical accessibility of the tumor. During radiotherapy planning, special emphasis should be given to this sites of tumor extension to avoid possible local recurrence.

Adult↗
PubMed2005

Stage 2 of the Wellcome Trust UK-Irish bipolar affective disorder sibling-pair genome screen: evidence for linkage on chromosomes 6q16-q21, 4q12-q21, 9p21, 10p14-p12 and 18q22.

Bipolar affective disorder (BPAD) is a common psychiatric disorder with complex genetic aetiology. We have undertaken a genome-wide scan in one of the largest samples of bipolar affected sibling pairs (ASPs) using a two-stage approach combining sample splitting and marker grid tightening. In this second stage analysis, we have examined 17 regions that achieved a nominally significant maximum likelihood LOD score (MLS) threshold of 0.74 (or 1.18 for the X-chromosome) in stage one. The second stage has added 135 ASP families to bring the total stage 2 sample to 395 ASPs. In total, 494 microsatellite markers have been used to screen the human genome at a density of 10 cM in the first stage sample (260 ASPs) and 5 cM in the second stage. Under the broad diagnostic model, two markers gave LOD scores exceeding 3 with two-point analysis: D4S392 (LOD=3.30) and D10S197 (LOD=3.18). Multipoint analysis demonstrated suggestive evidence of linkage between BPAD and chromosomal regions 6q16-q21 (MLS=2.61) and 4q12-q21 (MLS=2.38). 6q16-q21 is of particular interest because our data, together with those from two recent genome scans, make this the best supported linkage region in BPAD. Further, our data show evidence of a gender effect at this locus with increased sharing predominantly within the male-male pairs. Our scan also provides support for linkage (MLS> or =1.5) at several other regions that have been implicated in meta-analyses of bipolar disorder and/or schizophrenia including 9p21, 10p14-p12 and 18q22.

Bipolar Disorder↗
PubMed2005

Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.

Split-hand/split-foot malformation (SHFM) is a genetically heterogeneous disorder, with five known loci, that causes a lack of median digital rays, syndactyly, and aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals. In the only known SHFM2 family, affected males and homozygous females exhibit monodactyly or bidactyly of the hands and lobster-claw feet. This family (1) was revisited to include additional subjects and genealogical data. All 39 affected males and three females fully expressed the SHFM, while 13 carrier females examined exhibited partial expression of SHFM. We narrowed the previously linked 22-Mb genetic interval on Xq24-q26 (2), by analyzing additional family members and typing additional markers. The results define a 5.1-Mb region with a new centromeric boundary at DXS1114 and a telomeric boundary at DXS1192. We did not identify mutations in the exons and exon/intron boundaries of 19 candidate genes. These data suggest that the mutation may lie in a regulatory region of one of these candidate genes or in another gene within the SHFM2 region with unclear role in limb development.

Abnormalities, Multiple↗
PubMed2005

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

Hereditary hearing impairment (HI) is the most genetically heterogeneous trait known in humans. So far, 54 autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 21 ARNSHI genes have been identified. Here is reported the mapping of a novel ARNSHI locus, DFNB55, to chromosome 4q12-q13.2 in a consanguineous Pakistani family. A maximum multipoint LOD score of 3.5 was obtained at marker D4S2638. The region of homozygosity and the 3-unit support interval are flanked by markers D4S2978 and D4S2367. The region spans 8.2 cm on the Rutgers combined linkage-physical map and contains 11.5 Mb. DFNB55 represents the third ARNSHI locus mapped to chromosome 4.

Chromosome Mapping↗
PubMed2005

F wave latency--a frequent and early involved nerve conduction parameter in young diabetic subjects.

F-wave latency measurement is a sensitive parameter of diabetic neuropathy than the conduction velocities. This study was carried out to measure F-wave latency and to see which conduction parameters are affected frequently and early. A total number of 62 patients of which 32 newly diagnosed and 30 controls were included in the study. Ulnar motor nerve conduction velocity was found slowed in 6(18.75%) diabetic subjects, but F-wave latency was found prolonged in 16(50%) diabetic subjects. 28(87.5%) diabetic subjects had normal peroneal nerve conduction velocity but peroneal F wave was found prolonged in 17(53.12%) diabetic subjects. This result suggests that F-wave latency is more frequently & early involved conduction parameter in diabetic subjects.

Action Potentials↗
PubMed2004

Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.

We report on a six-generation Pakistani consanguineous family with autosomal recessive transmission of a form of hereditary nail dysplasia. Affected individuals presented with onycholysis of fingernails and anonychia of toenails. Associated abnormalities of ectodermal appendages were not observed in any of the affected individuals. Linkage has been established to chromosome 17q. A maximum multipoint analysis logarithm of the odds ratio score of 4.85 was obtained at marker D17S1301. Due to the consanguineous nature of this kindred, the gene for nail dysplasia is probably contained within a 5.0-cM (3 MB on the sequence-based physical map) region of homozygosity flanked by markers D17S1807 and D17S937.

Chromosomes, Human, Pair 17↗
PubMed2004

Co-infection of malaria and gamma-herpesvirus: exacerbated lung inflammation or cross-protection depends on the stage of viral infection.

In order to study the interaction between a gamma-herpesvirus and malaria we established a co-infection model that involves infection of mice with murine gamma-herpesvirus (MHV-68) and Plasmodium yoelii non-lethal strain (PYNL). To investigate the interaction between acute malaria and the lytic stage of MHV-68, the timing of infections was chosen such that the peak virus and parasite burdens would be present at the same time. Under this condition, we observed significant mortality in co-infected mice and aggressive lung inflammation with a marked influx of neutrophils and megakaryocytes. If mice were latently infected with MHV-68 and then co-infected with malaria we noticed significantly less viral load and parasitaemia. Using MHC/peptide tetramer staining we found that acute malaria reduces the anti-MHV-68 CD8+ T cell response in the animals that develop severe disease. Our study provides important fundamental information, which will be of use when devising strategies to combat infections with more than one agent, a situation that often occurs naturally.

Acute Disease↗
PubMed2004

Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).

Multiple hereditary exostoses (HME) is an autosomal dominant developmental disorder exhibiting multiple osteocartilaginous bone tumors that generally arise near the ends of growing long bones. Here, we report two large consanguineous families from Pakistan, who display the typical features of HME. Affected individuals also show a previously unreported feature--bilateral overriding of single toes. Analysis using microsatellite markers for each of the known EXT loci, EXT1, EXT2, and EXT3 showed linkage to EXT1. In the first family, mutation analysis of the EXT1 gene revealed that affected individuals were heterozygous for an in-frame G-to-C transversion at the conserved splice donor site in intron 1. This mutation is predicted to disrupt splicing of the first intron and produce a frameshift that leads to a premature termination codon. In the second family, an insertion of an A in exon 8 is predicted to produce a frameshift at codon 555 followed by a premature termination, a further 10 codons downstream. In both families, an increased number of affected male subjects were observed. In affected females in family 2, phenotypic variability and incomplete penetrance were noted.

Base Sequence↗
PubMed2003

Rapid access multidisciplinary lymph node diagnostic clinic: analysis of 550 patients.

Lymphadenopathy is common, affecting patients of all ages. The current referral pattern for investigating patients with lymphadenopathy varies widely with no universally practised pathway. Our institution set up a lymph node diagnostic clinic (LNDC) accepting direct referrals from primary care physicians. Details of clinical presentation and investigations were recorded prospectively. Between December 1996 and July 2001, 550 patients were referred (M: 203; F:347). The median age was 40 years (range 14-90). The median time between initial referral and the first clinic visit was 6 days. Of 95 patients diagnosed to have malignant diseases, the median time from the first clinic visit to reaching malignant diagnosis was 15 days. Multivariate logistic regression analysis identified five significant predictors for malignant nodes: male gender (risk ratio (RR)=2.72; 95% confidence interval (CI): 1.63-4.56), increasing age (RR=1.05; 95% CI: 1.04-1.07), white ethnicity (RR=3.01; 95% CI: 1.19-7.6) and sites of lymph nodes: supraclavicular region (RR=3.72; 95% CI: 1.52-9.12) and > or = 2 regions of lymph nodes (RR=6.41; 95% CI: 2.82-14.58). Ultrasound and fine-needle aspiration cytology of palpable lymph nodes were performed in 154 and 289 patients, respectively. An accuracy of 97 and 84% was found, respectively. In conclusion, a multidisciplinary lymph node diagnostic clinic enables a rapid, concerted approach to a common medical problem and patients with malignant diseases were diagnosed in a timely fashion.

Adult↗
PubMed2003

Spectroscopic study of human lung epithelial cells (A549) in culture: living cells versus dead cells.

The noninvasive analysis of living cells grown on 3-dimensional scaffold materials is a key point in tissue engineering. In this work we show the capability of Raman spectroscopy for use as a noninvasive method to distinguish cells at different stages of the cell cycle and living cells from dead cells. The spectral differences between cells in different stages of the cell cycle are characterized mainly by variations in DNA vibrations at 782, 788, and 1095 cm(-1). The Raman spectrum of dead human lung derived (A549 line) cells indicates the breakdown of both phosphodiester bonds and DNA bases. The most sensitive peak for identifying dead cells is the 788 cm(-1) peak corresponding to DNA Obond;Pbond;O backbone stretching. The magnitude of this peak is reduced by 80% in the spectrum of dead cells. Changes in protein peaks suggest significant conformational changes; for example, the magnitude of the 1231 cm(-1) peak assigned to random coils is reduced by 63% for dead cells. The sharp peak of phenylalanine at 1005 cm(-1) drops to half, indicating a decrease of stable proteins associated with cell death. The differences in the 1190-1385 cm(-1) spectral region also suggest a decrease in the amount of nucleic acids and proteins. Using curve fitting, we quantify these spectral differences that can be used as markers of cell death.

Biomarkers↗
PubMed2003

Role of intravenous immunoglobulin in severe steroid-dependent asthma.

BACKGROUND: Subgroups of asthma patients have extremely severe respiratory symptoms that require chronic use of steroids for disease control. These patients are at risk of significant side-effects from chronic exposure to high doses of oral steroids. Intravenous immunoglobulin (IVIG) has immunomodulatory properties as shown by its use in some immune disorders. A few trials have suggested a possible benefit in individuals with severe asthma. AIMS: To evaluate the role of IVIG as an adjunctive therapy in steroid-dependent asthma, monitoring the outcomes of lung function and measured reduction in oral steroid requirement. METHOD: Seven patients with severe steroid-dependent asthma were given IVIG at a dose of 1 g/kg each month for 6 months. Baseline pulmonary function tests and immunoglobulin levels were obtained. At the end of 6 months, the end-points observed were lung function and the degree of reduction in the dose of oral steroids. The number of hospital admissions during the 12 months following commencement of IVIG was compared with the preceding 12 months. RESULTS: There was a significant reduction in daily prednisolone dose from 56 +/- 31 mg to 39 +/- 35 mg (P=0.04, Wilcoxon rank sum test) and a decrease in the number of hospital admissions from 5.9 +/- 2.9 to 3.6 +/- 3.5 (P=0.04). No significant improvement occurred in lung function. CONCLUSION: IVIG provides a potentially important adjunctive therapy in severe steroid-dependent asthma, reducing steroid requirement and decreasing hospital admissions, but not improving lung function.

Adjuvants, Immunologic↗
PubMed2002

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

The present authors have previously described a consanguineous Pakistani family with fibular hypoplasia and complex brachydactyly (DuPan syndrome) inherited as an autosomal recessive trait. All affected individuals showed either reductions or absence of bones in the limbs, and appendicular bone dysmorphogenesis with unaffected axial bones. Obligate heterozygote parents were phenotypically normal. Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene have been reported in two acromesomelic chondrodysplasias (i.e. Hunter-Thompson type and Grebe type) which are phenotypically related to DuPan syndrome. CDMP1, a member of the transforming growth factor beta super-family of secreted signalling molecules, has been reported to regulate limb patterning and distal bone growth. Therefore, the present authors examined genomic DNA from the family with DuPan syndrome for mutations in the CDMP1 gene. Affected individuals were homozygous for a missense mutation, T1322C, in the coding region of the CDMP1 gene. This mutation was not found in 44 control subjects of Pakistani origin. The T1322C change predicts a leu441pro substitution in the mature domain of the CDMP1 protein. This is likely to cause a conformational change in the CDMP1 protein that influences the expression of genes which are required for normal bone development. This finding extends the spectrum of phenotypes produced by defects in the CDMP1 gene.

Bone Morphogenetic Proteins↗
PubMed2001

Cerebral malaria in mice: interleukin-2 treatment induces accumulation of gammadelta T cells in the brain and alters resistant mice to susceptible-like phenotype.

In this study, we report that infection with Plasmodium yoelii 17XL, a lethal strain of rodent malaria, does not result in death in the DBA/2 strain of mice. In contrast to BALB/c mice, DBA/2 mice developed significantly less parasitemia and never manifested symptoms of cerebral malaria (CM) on infection with this parasite. Moreover, the histological changes evident in the brain of susceptible BALB/c were absent in DBA/2 mice. Interestingly, the resistant DBA/2 mice when treated with recombinant interleukin (IL)-2, were found to develop CM symptoms and the infection became fatal by 6 to 8 days after infection. This condition was associated with an augmented interferon-gamma and nitric oxide production. Unexpectedly, IL-10 levels were also elevated in IL-2-treated DBA/2 mice during late stage of infection (at day 6 of infection) whereas the inverse relationship between IL-10 and interferon-gamma or nitric oxide was maintained in the early stage of infection (at day 3 after infection). The level of tumor necrosis factor-alpha production was moderately increased in the late phase of infection in these mice. Histology of brain from IL-2-treated mice demonstrated the presence of parasitized erythrocytes and infiltration of lymphocytes in cerebral vessels, and also displayed some signs of endothelial degeneration. Confocal microscopical studies demonstrated preferential accumulation of gammadelta T cells in the cerebral vessels of IL-2-treated and -infected mice but not in mice treated with IL-2 alone. The cells recruited in the brain were activated because they demonstrated expression of CD25 (IL-2R) and CD54 (intercellular adhesion molecule 1) molecules. Administration of anti-gammadelta mAb prevented development of CM in IL-2-treated mice until day 18 after infection whereas mice treated with control antibody showed CM symptoms by day 6 after infection. The information concerning creating pathological sequelae and death in an otherwise resistant mouse strain provides an interesting focus for the burden of pathological attributes on death in an infectious disease.

Animals↗
PubMed2001

nm23-H1 suppresses invasion of oral squamous cell carcinoma-derived cell lines without modifying matrix metalloproteinase-2 and matrix metalloproteinase-9 expression.

nm23-H1 is a candidate gene for the suppression of cancer metastasis. Several studies on human breast, hepatocellular, gastric, ovarian, and colon carcinomas and melanomas have shown that reduced nm23-H1 expression was closely related to metastatic progression with poor prognosis. However, the biochemical mechanism by which nm23-H1 suppresses the metastasis has yet to be elucidated. In this study, we analyzed the correlation between nm23 expression, cell motility, and the invasive abilities of six different oral squamous cell carcinoma cell lines (HSC2, HSC3, HSC4, KB, OSC19, and OSC20). Reduced mRNA/protein expression of the nm23-H1 was observed in three cell lines (HSC2, HSC3, and HSC4). These cell lines exhibited increased cell motility and an invasive character on organotypic raft culture. On the other hand, the cell lines (KB, OSC19, and OSC20) that showed a higher expression of nm23-H1 exhibited a threefold to fivefold reduced motility and also reflected fewer invasions compared to the former three cell lines. Because the HSC3 cells demonstrated the lowest nm23-H1 expression with the highest cell motility and invasive character, we established nm23-H1-transfected HSC3 cell lines to investigate whether exogenous nm23-H1 protein could inhibit cell migration and invasive activity. These transfectants showed a significant reduction in cell motility with exogenous nm23-H1 in a dose-dependent manner, and exhibited a noninvasive character. An immunofluorescence study demonstrated a distinct stress-fiber distribution at peripheral region of these transfectants. However, no significant difference of matrix metalloproteinase (MMP)-2 and MMP-9 expression was observed between mock transfectant and nm23-H1-transfected cells. These findings suggest that nm23-H1 inhibits the invasive activity of oral squamous cell carcinoma by suppression of cell motility without altering the MMP-2 and MMP-9 status.

Carcinoma, Squamous Cell↗
PubMed2001

Cardiovascular risk factors: distribution and prevalence in a rural population of Bangladesh.

BACKGROUND: Little is known about the cardiovascular risk factors in the Bangladeshi population. We examined 'classic' risk factors, including central obesity, in a rural population. METHODS: Non-biochemical variables were examined in 238 men and 272 women aged 18 years or more (mean +/- standard deviation 38.1 +/- 10.7 years in men and 36.0 +/- 9.8 in women). Fasting blood glucose and total cholesterol concentrations were determined in a sub-sample of 106 men and 135 women. RESULTS: Men and women had a similar body mass index (20.4 +/- 3.1 vs 20.8 +/- 3.4 kg/m2), waist circumference (72.8 +/- 7.6 vs 71.4 +/- 8.7 cm), systolic blood pressure (118.4 +/- 13.7 vs 119.5 +/- 17.7 mmHg), diastolic blood pressure (75.9 +/- 9.9 vs 74.6 +/- 11.5 mmHg), total cholesterol (155.7 +/- 36.0 vs 162.0 +/- 35.2 mg/dl) and blood glucose level (89.0 +/- 14.9 vs 86.2 +/- 9.6 mg/dl. After categorization of these variables, the prevalence of thinness (body mass index < 18.5; 30.0 vs 30.3%), obesity (body mass index > or = 30; 0.8 vs 1.1%), hypertension (systolic blood pressure > or = 140 and/or diastolic blood pressure > or = 90 or medication; 9.8 vs 15.6%), hypercholesterolemia (total cholesterol > or = 240; 2.8 vs 3.0%) and diabetes mellitus (blood glucose > or = 126; 2.9 vs 0.7%) remained similar between the sexes. However, central obesity (waist circumference > or = 94 cm in men and > or = 80 cm in women) was less frequent (2.9 vs 16.8%; P = 0.001) in men. Overall, tobacco consumption (57.1 vs 23.2%; P = 0.001) and smoking (50.3% vs 2.9%; P = 0.001) were more frequent in men, but chewing tobacco consumption was similar (16.3 vs 21.4%; P = 0.095). CONCLUSIONS: Our sample size is small, and larger studies are necessary for a more accurate description of the risk factors.

Adult↗
PubMed2001

Radiation effects of carbon ions and gamma ray on UDMA based dental resin.

The radiation effects on the mechanical and physical properties of photo-polymerized UDMA resin without filler was investigated by various mechanical tests and spectroscopic measurements. The radiation sources were carbon ion (12C ion) and gamma ray (gamma-ray). With 640 Gy of 12C ion radiation, Vickers hardness increased by about 40%, the degree of abrasion decreased by 30%, and the flexural strength increased by 20%. With the same dose of gamma-ray radiation, only Vickers hardness increased by 19%. The spectra taken by the Fourier Transform Infrared Spectrometer (FT-IR), Raman spectroscopy, and Fluorescence spectrophotometer showed little change in the peak configuration and background intensities. The relative degree of conversion (DC) of carbon double bonds by radiation to the state of non-radiated samples were estimated by FT-IR. Spectroscopic results were indicative for the formation of cross-linking between carbon chains. Cross-linking of carbon molecules induced by radiation might be one of the reasons for the improved mechanical properties of UDMA resin.

Carbon↗