Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2. Mutations of the DSPP gene, which encodes the dentin sialophosphoprotein, a major non-collagenous protein, are responsible for three isolated dentinal diseases: DGI-II, DGI-III, and DD-II. However, DD-I appears to be special in that researchers have found three pathogenicity genes-VPS4B, SSUH2, and SMOC2-in three affected families from different countries. It is believed that DD-I is a genetically heterogeneous disease and is distinguished from other types of dentin disorders. This review summarizes the DD-I literature in the context of clinical appearances, radiographic characteristics, and functions of its pathogenic genes and aims to serve clinicians in further understanding and diagnosing this disease.
ABSTRACT. Leukemia stem cells (LSCs) are regarded as the origin of leukemia and its recurrence. Side population (SP) cells possess some intrinsic stem cell properties and contain numerous LSCs. In this study, we examined the prognostic significance of cluster differentiation 47 (CD47) and identified the appropriate target for eliminating LSCs. We determined the percentage of SP cells in a THP-1 cell population and analyzed CD47 expression in different cell subsets. We then explored whether CD47 affected the phagocytic ability of macrophages to LSCs in vitro. Finally, the effect of anti-CD47 monoclonal antibodies, alone or combination with cytarabine, against leukemic cells was evaluated in vitro and in vivo to identify the optimal targets for the treatment of leukemia. We observed an SP sub-fraction at low frequency (1.81 ± 0.99%), which was a likely candidate for LSC enrichment. CD47 was more highly expressed on THP-1 LSCs (P < 0.05) and was an independent predictor of survival and refractory disease in THP-1-engrafted mice. Furthermore, the anti-CD47 monoclonal antibody stimulated preferential phagocytosis of LSCs by macrophages in vitro. Finally, single or combination treatment of THP-1 LSC-engrafted mice 5631 Combination therapy eliminates leukemic cells ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (2): 5630-5641 (2015) with cytarabine and anti-CD47 antibody resulted in targeting of LSCs and depletion of leukemia cells. These findings suggest that CD47 is an antibody target in LSCs and combination treatment with cytarabine and anti-CD47 monoclonal antibody represents an attractive option for the therapeutic targeting of acute monocytic leukemia.
What are the novel findings of this work?Trio-based prenatal exome sequencing (pES) had an incremental yield of 31% in ongoing pregnancies with fetal ultrasound anomalies but undiagnosed by copy-number variant sequencing (CNV-seq). Comprehensive analysis of nuclear exome coding and splicing regions, as well as mitochondrial genome, provided not only diagnostic findings but also incidental findings (in 7.8% cases) that were important for affected families. What are the clinical implications of this work?Trio-based pES is an efficient diagnostic method for families with fetal ultrasound anomalies and normal CNV-seq results. The incidental findings and parental carrier status detected by trio-based pES extend its clinical application, but careful genetic counseling is warranted.
Neural stem cells can survive in both fetal bovine serum and artificial perilymph, and within these media can differentiate into cells with hair-cell-specific antibodies. This provides an experimental basis for transplantation of neural stem cells into the inner ear.
Purpose: To estimate the calculation of absorbed dose to the fetus and infants from intakes of I‐131 by the mother. Thus provide some advice to the radioprotection of radioactive accident. Methods: In this clinical case, a staff of nuclear medicine accidently intake I‐131 during (10–12 weeks) and after pregnancy. The infant was born at full term, but both lobes of the thyroid gland were found to be absent (bilobar thyroid agenesis). It was suspected that the fetal thyroid agenesis may be related with mother's contamination of I‐131 during pregnancy. Urine samples for 24h were collected at different times after administered and radioactivity were measured to calculate the dose of intake I‐131. Calculate the intake I‐131 by the results of personal TLD dosimeter. We adopted the mean of two calculated results as the I‐131 intake. According to the dose of intake I‐131 by the mother, effective dose and absorbed dose of thyroid for mother, fetus and infant were calculated. Results: The intake of I‐131 was estimated for 8.18 mCi. I‐131 intake was calculated for 7.9 mCi based on data of TLD dosimeter. We adopted the mean of two results as the I‐131 intake. The final result was 8.0 mCi. Effective dose and absorbed dose of thyroid for mother were 7.3Sv and 164 Gy, effective dose and absorbed dose of thyroid for fetus were 2.035 Sv and 40.7 Gy, effective dose and absorbed dose of thyroid for infant were 16.25 Sv and 355Gy. Conclusion: The intake during pregnancy was about 1mCi. The absorbed dose of thyroid of the mother was 19.5Gy, whereas the effective of infant was estimated for 40.7Gy. The function of the mother's thyroid was normal after diagnosis. But the infant was diagnosed as bilobar thyroid agenesis.
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