A sporadic case of colorectal carcinoma with multiple polyps in a 16-year-old boy: An unusual presentation

Aim and Background

Colorectal carcinoma associated with multiple colonic polyps is rare in children and adolescents without any previous family history of colorectal cancer/hereditary polyposis syndrome.

Case Report

We present the case of adenocarcinoma of the colon and rectum detected by biopsy in a 16-year-old boy with multiple polyps treated at our institution.

Conclusion

Though uncommon, sporadic cases of multiple polyps associated with colorectal carcinoma without any positive family history must always be considered in children with history of a colorectal polyp associated with bleeding. A high degree of suspicion is necessary to detect and treat such cases, thus preventing morbidity and mortality.     

Risk of Type 1 Diabetes Progression in Islet Autoantibody-Positive Children Can Be Further Stratified Using Expression Patterns of Multiple Genes Implicated in Peripheral Blood Lymphocyte Activation and Function

There is tremendous scientific and clinical value to further improving the predictive power of autoantibodies because autoantibody-positive (AbP) children have heterogeneous rates of progression to clinical diabetes. This study explored the potential of gene expression profiles as biomarkers for risk stratification among 104 AbP subjects from the Diabetes Autoimmunity Study in the Young (DAISY) using a discovery data set based on microarray and a validation data set based on real-time RT-PCR. The microarray data identified 454 candidate genes with expression levels associated with various type 1 diabetes (T1D) progression rates. RT-PCR analyses of the top-27 candidate genes confirmed 5 genes (BACH2, IGLL3, EIF3A, CDC20, and TXNDC5) associated with differential progression and implicated in lymphocyte activation and function. Multivariate analyses of these five genes in the discovery and validation data sets identified and confirmed four multigene models (BI, ICE, BICE, and BITE, with each letter representing a gene) that consistently stratify high- and low-risk subsets of AbP subjects with hazard ratios >6 (P < 0.01). The results suggest that these genes may be involved in T1D pathogenesis and potentially serve as excellent gene expression biomarkers to predict the risk of progression to clinical diabetes for AbP subjects.     

The Effect of Geometric Variations in Posterior-stabilized Knee Designs on Motion Characteristics Measured in a Knee Loading Machine

Background

In different posterior-stabilized (PS) total knees, there are considerable variations in condylar surface radii and cam-post geometry. To what extent these variations affect kinematics is not known. Furthermore, there are no clearly defined ideal kinematics for a total knee.

Questions/purposes

The purposes of this study were to determine (1) what the kinematic differences are caused by geometrical variations between PS total knee designs in use today; and (2) what design characteristics will produce kinematics that closely resemble that of the normal anatomic knee.

Methods

Four current PS designs with different geometries and one experimental asymmetric PS design, with a relatively conforming medial side, were tested in a purpose-built machine. The machine applied combinations of compressive, shear, and torque forces at a sequence of flexion angles to represent a range of everyday activities, consistent with the ASTM standard test for measuring constraint. The femorotibial contact points, the neutral path of motion, and the AP and internal-external laxities were used as the kinematic indicators.

Results

The PS designs showed major differences in motion characteristics among themselves and with motion data from anatomic knees determined in a previous study. Abnormalities in the current designs included symmetric mediolateral motion, susceptibility to excessive AP medial laxity, and reduced laxity in high flexion. The asymmetric-guided motion design alleviated some but not all of the abnormalities.

Conclusions

Current PS designs showed kinematic abnormalities to a greater or lesser extent. An asymmetric design may provide a path to achieving a closer match to anatomic kinematics.

Clinical Relevance

One criterion for the evaluation of PS total knees is how closely the kinematics of the prosthesis resemble that of the anatomic knee, because this is likely to affect the quality of function.     

Redox modulatory protective effects of ω-3 fatty acids rich fish oil against experimental colitis

Ulcerative colitis (UC), a form of inflammatory bowel disease (IBD), is an immune-modulated disorder characterized by chronic and recurring inflammatory episodes. Oxidative stress and COX pathway of prostaglandin (PG) biosynthesis are indispensable to pathogenesis of UC. Any imbalance between PGs can compromise the mucosal homeostasis, leading to mucosal damage and chronic inflammation. However, blocking these PGs using classical Cox inhibitors such as non-steroidal anti-inflammatory drugs (NSAIDs) can instead aggravate signs of IBD. Therefore, realizing the need for safer and well tolerable alterative treatment approaches, currently, we evaluated the efficacy of n-3 fatty acids rich fish oil (FO) in the resolution of UC. Using a dextran sodium sulfate (DSS) model of experimental colitis, we have demonstrated that supplementation of FO containing 180?mg EPA and 120?mg DHA for 1 month relieved the signs (diarrhea, bloody stools, weight loss) of colitis-associated inflammation. To understand the biophysical changes associated with FO mediated inflammatory regulation, impedance measurement and Fourier transform infrared spectroscopy (FTIR) were done. These changes were also correlated with oxidative stress through markers such as GST, glutathione peroxidase (GPx), LPO, catalase, protein carbonyl content, GR, etc. in colonic mucosa. The modulation of COX mediated pathways in UC-associated inflammation was observed by protein expressions of various pro-inflammatory cytokines such as TNF-α and enzymes of PG synthesis such as COX-2, PGES, TXAS, and anti-inflammatory PGDS. Refuting the earlier reports that suggested the contradictory effects of FO, in the current study, we evidently demonstrated that the protective effects of FO are mediated through molecular mechanisms involving the redox-regulation of metabolism of key lipid metabolites.     

Prevalence of celiac disease in nutritional anemia at a tertiary care center

Background

While anemia occurs in 80 % to 90 % of patients with celiac disease (CD), it may be the sole manifestation of CD. The prevalence of CD in Indian patients with nutritional anemia is not known.

Patients and Methods

Adolescent and adult patients presenting with nutritional anemia were prospectively screened for CD using IgA anti-tissue transglutaminase antibody (anti-tTG Ab) followed, if positive, by upper gastrointestinal endoscopy and duodenal biopsy.

Results

Ninety-six patients [mean?±?SD age 32.1?±?13.1 years and median duration of anemia 11 months (range 1 to 144 months)] were screened. Of these patients, 80 had iron deficiency anemia, 11 had megaloblastic anemia, and 5 had dimorphic anemia. Seventy-three patients were on hematinics and 36.4 % had received blood transfusions. Nineteen had a history of chronic diarrhea and the mean?±?SD duration of diarrhea in them was 9.7?±?35.8 months. IgA anti-tTG Ab was positive in 13 patients, of whom 12 agreed to undergo duodenal biopsy. Ten patients had villous atrophy (Marsh grade 3a in three, 3b in one, and 3c in six) and two did not. Thus, 10 patients with nutritional anemia (iron deficiency 9, vitamin B₁₂ deficiency 1) were diagnosed to have CD. On multivariate logistic regression, age, duration of symptoms, and presence of diarrhea were found to be the predictors of CD. All the patients with CD were put on gluten-free diet and with iron and vitamin supplementations and showed a significant improvement in hemoglobin concentration.

Conclusions

CD screening should be included in the work up of otherwise unexplained nutritional anemia.