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101.
We report a very rare case of HEREDITARY ANGIOEDEMA, presenting as recurrent acute abdomen. A 22 yr old Maharastrian male,
law college student, got admitted for about fifteen times in previous three years for severe, acute onset, upper abdominal
pain, vomiting, distention and acute exudative inflammatory ascites .The whole episode used to subside spontaneously within
2–3 days with or without conservative general management .He underwent various investigations from far basic type, to advanced
and invasive type with each recurrence but without definitive diagnosis. He also underwent unnecessary appendectomy. The authors
did a review of his previous records, but didn't find any definite surgical or medical cause for his acute abdomen. Obviously
it was something rare. Authors did search for it in various surgical and medical literature and searched extensively on internet
for rare causes of abdominal pain which guided them for further appropriate investigations and diagnose him as a case of HEREDITARY
ANGIOEDEMA ,as his clinical features and C1-INH,C3-C4 levels were strongly in favour of it . It goes without saying that the
internet has become a standard accessory to conventional literature for cases with diagnostic dilemmas and for treatment options
as well. 相似文献
102.
103.
Julie M Cunningham Thomas A Sellers Joellen M Schildkraut Zachary S Fredericksen Robert A Vierkant Linda E Kelemen Madhura Gadre Catherine M Phelan Yifan Huang Jeffrey G Meyer V Shane Pankratz Ellen L Goode 《Cancer epidemiology, biomarkers & prevention》2008,17(7):1781-1789
Whole genome amplification (WGA) offers a means to enrich DNA quantities for epidemiologic studies. We used an ovarian cancer study of 1,536 single nucleotide polymorphisms (SNPs) and 2,368 samples to assess performance of multiple displacement amplification (MDA) WGA using an Illumina GoldenGate BeadArray. Initial screening revealed successful genotyping for 93.4% of WGA samples and 99.3% of genomic samples, and 93.2% of SNPs for WGA samples and 96.3% of SNPs for genomic samples. SNP failure was predicted by Illumina-provided designability rank, %GC (P < or = 0.002), and for WGA only, distance to telomere and Illumina-provided SNP score (P < or = 0.002). Distance to telomere and %GC were highly correlated; adjustment for %GC removed the association between distance to telomere and SNP failure. Although universally high, per-SNP call rates were related to designability rank, SNP score, %GC, minor allele frequency, distance to telomere (P < or = 0.01), and, for WGA only, Illumina-provided validation class (P < 0.001). We found excellent concordance generally (>99.0%) among 124 WGA:genomic replicates, 15 WGA replicates, 88 replicate aliquots of the same WGA preparation, and 25 genomic replicates. Where there was discordance, it was across WGA:genomic replicates but limited to only a few samples among other replicates suggesting the introduction of error. Designability rank and SNP score correlated with WGA:genomic concordance (P < 0.001). In summary, use of MDA WGA DNA is feasible; however, caution is warranted regarding SNP selection and analysis. We recommend that biological SNP characteristics, notably distance to telomere and GC content (<50% GC recommended), as well as Illumina-provided metrics be considered in the creation of GoldenGate assays using MDA WGA DNA. 相似文献
104.
105.
Michelle R. Denburg Madhura Pradhan Justine Shults Abigail Jones Jo Ann Palmer H. Jorge Baluarte Mary B. Leonard 《Pediatric nephrology (Berlin, Germany)》2010,25(10):2129-2139
Obesity and hypertension frequently complicate renal transplantation (RTxp). The objective was to assess relations among obesity,
hypertension, and glucocorticoids in pediatric RTxp recipients. A retrospective cohort study was carried out in 141 RTxp recipients,
2–21 years of age, with ≥12 months of follow-up. Body mass index Z-score (BMI-Z), systolic and diastolic blood pressure Z-scores
(SBP-Z and DBP-Z), and medications at 1, 3, 6, and 12 months and annually thereafter were recorded. Quasi-least squares regression
analysis was used. The prevalence of obesity (BMI ≥ 95th percentile) increased from 13% at baseline to >30% from 3 months
onward. Greater glucocorticoid exposure (mg/kg/day) was associated with greater increases in BMI-Z (p < 0.001). This association was greater in males, younger recipients, and those with lower baseline BMI-Z (all interactions
p < 0.02). The prevalence of systolic hypertension (SBP ≥ 95th percentile) was 73% at 1 month and ≥ 40% at all follow-up visits.
Greater glucocorticoid exposure (p < 0.001) and increases in BMI-Z (p = 0.005) were independent determinants of SBP-Z over time. Cyclosporine (versus tacrolimus) was independently associated
with greater SBP-Z and DBP-Z (p = 0.001). Sustained obesity and hypertension frequently complicated pediatric RTxp. Obesity was an independent determinant
of systolic hypertension. Strategies are needed to prevent obesity and its impact on hypertension, cardiovascular disease,
and allograft survival. 相似文献
106.
107.
Wadikar DD Madhura CV Premavalli KS 《International journal of food sciences and nutrition》2011,62(4):404-409
Ginger is well known as gastric stimulant and the curd is consumed for its probiotic properties. Based on these two functional ingredients, an appetizer drink mix has been developed and optimized for its ingredient composition with the help of response surface methodology. The appetizer mix is cold water reconstitutable and provides 77 kCal per serving of 100 ml. The dry appetizer mix was modified by replacing the curd powder with fresh curd and was processed at 95 °C for 30 sec and aseptically packed as a ready-to-drink beverage. The product has a shelf-life of 6 months at ambient conditions in both forms. The product was very well accepted during field trials at army units. 相似文献
108.
P Dorababu SM Naushad VG Linga S Gundeti N Nagesh VK Kutala P Reddanna R Digumarti 《Pharmacogenomics》2012,13(9):1001-1008
Aim: The rationale of this study was to explore the contribution of genetic variants of the folate pathway to toxicity of 6-mercaptopurine (6-MP)-mediated hematological toxicity in children with acute lymphoblastic leukemia (ALL) and to explore the interaction of these variants with TPMT and ITPA haplotypes using multifactor dimensionality reduction analysis. Materials & methods: Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5′-UTR 2R3R, TYMS 3′-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques. Results: GCPII C1561T showed independent association with toxicity. The following synergetic interactions appeared to increase the toxicity of 6-mercaptopurine: TPMT*12 × RFC1 G80A; TPMT CTTAT haplotype × RFC1 G80A; TPMT CTTAT haplotype × RFC1 G80A × TYMS 2R3R. The genetic variants of thiopurine and folate pathway cumulatively appeared to increase the predictability of toxicity (r(2) = 0.41) in a multiple linear regression model. For the observed toxicity grades of 1, 2, 3 and 4, the respective predicted toxicity grades were 1.65 ± 0.29, 1.68 ± 0.24, 2.56 ± 0.58 and 2.99 ± 1.03, p(trend) < 0.0001. Conclusion: Gene-gene interaction between thiopurine and folate pathways inflate the 6-MP-mediated toxicity in Indian children with ALL illustrating the importance of ethnicity in the toxicity of 6-MP. Original submitted 3 January 2012; Revision submitted 23 April 2012. 相似文献
109.
Rebecca L. Hillyer Padma Sirinvasin Madhura Joglekar Robert A. Sikes Kenneth L. van Golen Anja Nohe 《Clinical & experimental metastasis》2012,29(8):971-979
Vitamin D is a known regulator of breast cancer cell proliferation, apoptosis, migration, invasion and differentiation in vitro. Recent studies have suggested a preventative role for vitamin D in breast cancer development and suggested a possible therapeutic application of vitamin D for patients with various forms of breast cancer. Inflammatory breast cancer (IBC) is a highly aggressive and phenotypically unique form of breast cancer that has a very poor prognosis. IBC invades the dermal lymphatics of the breast as tumor emboli early in the course of the disease. Because of the invasive nature of IBC, novel therapeutics are needed desperately. In the current study we examined the effect of the active form of vitamin D, calcitriol, treatment on the aggressive IBC phenotype. Herein we demonstrate that although the vitamin D receptor (VDR) is present in both IBC and non-IBC cell lines, the effect of vitamin D treatment is significant only on the IBC cells. SUM149 IBC cells showed increased protein concentration in response to 24?h of calcitriol exposure; likely mediated by an increase in protein synthesis as opposed to increased cellular proliferation. In addition, treatment with 100?nM calcitriol showed a significant decrease in SUM149 migration (67.8?% decrease, P?=?0.030), invasion (43.9?% decrease, P?=?0.015), and tumor spheroid size (69.4?% decrease, P?=?0.018) compared to nontreated control groups. Finally, calcitriol treatment of SUM149 cells led to significantly fewer IBC experimental metastases as compared to control. Our study demonstrates that calcitriol treatment of SUM149 affected several of the processes important for IBC metastasis but had little effect on MDA-MB-231 cells. Therefore, calcitriol treatment may have the potential to decrease the rate and incidence of metastasis in IBC patients. 相似文献