Clonal competition with alternating dominance in multiple myeloma

Emerging evidence indicates that tumors can follow several evolutionary paths over a patient's disease course. With the use of serial genomic analysis of samples collected at different points during the disease course of 28 patients with multiple myeloma, we found that the genomes of standard-risk patients show few changes over time, whereas those of cytogenetically high-risk patients show significantly more changes over time. The results indicate the existence of 3 temporal tumor types, which can either be genetically stable, linearly evolving, or heterogeneous clonal mixtures with shifting predominant clones. A detailed analysis of one high-risk patient sampled at 7 time points over the entire disease course identified 2 competing subclones that alternate in a back and forth manner for dominance with therapy until one clone underwent a dramatic linear evolution. With the use of the Vk*MYC genetically engineered mouse model of myeloma we modeled this competition between subclones for predominance occurring spontaneously and with therapeutic selection.     

A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major

Molecular characterization of β-thalassemia (β-thal) is essential in prevention and in understanding the biology of the disease. Deletion mutations are relatively uncommon in β-thal. In this report, we describe a novel 26 bp deletion from codon 6 to codon 14 in the β-globin in a consanguineous family from Tamil Nadu, India. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence, and consequently, a premature chain termination of translation due to the creation of a stop codon at the position of codon 21. The identification of this novel deletional mutation adds to the repertoire of β-thal mutations in India.     

Limited knowledge of chronic kidney disease among primary care patients – a cross-sectional survey

Background

Kidney disease is the 9th leading cause of death in Singapore. While preventive effects have focused on early detection and education, little is known about the knowledge level of chronic kidney disease (CKD) locally. We seek to evaluate the knowledge of CKD among primary care patients.

Methods

We conducted a cross-sectional survey of a convenience sample of 1520 patients from 3 primary care centers. Those with existing CKD or on dialysis were excluded. Knowledge was assessed based on 7 questions on CKD in the self-administered questionnaire. One point was given for each correct answer with a maximum of 7 points.

Results

1435 completed all 7 questions on CKD. Mean age was 48.9 ±15.0 (SD) years. 50.9% were male. 62.3% had a secondary and below education and 52.4% had a monthly household income of????$2000. 43.7% had chronic diseases. Mean score was 3.44?±?1.53 (out of a maximum of 7). Median score was 4. In multivariate logistic regression, being older {>60?years [Odds Ratio (OR) 0.50, 95% Confidence Interval (CI) 0.32-0.79]; 40?C60?years (OR 0.62, 95% CI 0.43,0.89)}, less educated [up to primary education (OR 0.33, 95% CI 0.22-0.49)], having a lower monthly household income [<S$2000 (OR 0.41, 95% CI 0.26-0.66); S$2000-4999 (OR 0.53, 95%CI, 0.33-0.83)], and being non-professionals [OR 0.66, 95% CI 0.43-0.99] (all p?<?0.05)] were likely to score less.

Conclusion

This suggests that CKD education should be targeted at older patients with lower education and lower socioeconomic status.     

Effect of varying bulb height on articulation and nasalance in maxillectomy patients with hollow bulb obturator

PurposeTo evaluate the effect of bulb height of hollow bulb obturator prosthesis on articulation and nasalance.MethodA total of 10 patients, who were to undergo maxillectomy falling under Aramany class-I and II, with normal speech and hearing pattern were selected for the study. They were provided 2 maxillary obturators, one extending full height of the defect and other with bulb height approximately up to inferior nasal concha. The patients were asked to wear each obturator for 6 weeks and the speech analysis was done to measure changes in articulation and nasalance at 6 different stages of treatment i.e. preoperative, postoperative (after complete healing), 24 h and 6 weeks after providing full bulb height obturator and reduced bulb height obturator. Articulation was measured objectively for distortion, addition, substitution and omission by speech pathologist and nasalance was measured by Dr. SPEECH software.ResultComparison between full and reduced bulb height for nasalance and articulation, showed that there was no statistical significant difference (P > 0.05) between the two for both the parametres.ConclusionArticulation and nasality improves after providing obturator. Articulation and nasalance both are independent of bulb height.     

Oral healthcare considerations for the pregnant woman

Pregnancy is a period of both joy and anxiety in a woman's life and is characterized by various physiological changes in her body brought about by the circulating female sex hormones. The oral cavity is also the seat of changes and these physiologic changes of pregnancy need to be addressed while managing the pregnant woman in the dental clinic. The main goal is to minimize the occurrence of any complications that might harm the mother-to-be and/or the unborn child. Preventive, emergency, and routine dental procedures are all deemed suitable during various phases of pregnancy, with some treatment modifications and initial planning. Clinical Relevance: The dentist should be in a position to manage pregnant women in clinical practice effectively.