A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1–q44 (copy gain) and 18q21.33–18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18)(q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities

Immunocytes as a Biocarrier to Delivery Therapeutic and Imaging Contrast Agents to Tumors

Radiotherapy for cancer treatment has been used for primary or adjuvant treatment in many types of cancer, and approximately half of all cancer patients are undergoing radiation. However, ionizing radiation exposure induces genetic alterations in cancer cells and results in recruitment of monocytes/macrophages by triggering signals released from these cells. Using this characteristic of monocytes/macrophages, we have attempted to develop a biocarrier loading radiosensitizing anticancer agents that can lead to enhance the therapeutic effect of radiation in cancer treatment. The aim of this study is to demonstrate the proof of this concept. THP-1 labeled with Qdot 800 or iron oxide (IO) effectively migrated into tumors of subcutaneous mouse model and increased recruitment after ionizing radiation. Functionalized liposomes carrying a radiosensitizing anticancer agent, doxorubicin, are successfully loaded in THP-1 (THP-1-LP-Dox) with reduced cytotoxicity, and THP-1-LP-Dox also was observed in tumors after intravenous administration. Here, we report that monocytes/macrophages as a biocarrier can be used as a selective tool for amplification of the therapeutic effects on radiotherapy for human cancer treatment

The safety and efficacy of haemostasis with a catechol-conjugated, chitosan-based haemostatic dressing versus a chitosan-based haemostatic dressing after transfemoral approach for transcatheter arterial chemoembolization : a randomized controlled trial

Purpose: To compare the haemostatic efficacy (i.e. efficacy to prevent access site complications) of the InnoSEAL haemostatic pad and Clo-Sur PLUS P.A.D. after femoral arterial puncture for transcatheter arterial chemoembolization (TACE). Material and methods: This randomized controlled trial compared the safety and efficacy of an InnoSEAL haemostatic pad (n = 48) and a Clo-Sur PLUS P.A.D. (n = 52) for haemostasis of arterial puncture sites after TACE with femoral arterial access using a 5-Fr sheath. Primary endpoints were incidence of major (necessitating surgery) and moderate access site complications (ASC) (necessitating blood transfusion/thrombin injection). Secondary endpoints were incidence of minor ASC (no therapy required) and time to haemostasis. Results: No major or moderate ASC was seen with either device. Minor ASC (6.3% [3/48] vs. 19.2% [10/52], p = 0.075) and ecchymosis (classified as minor ASC; 4.2% [2/48] vs. 17.3% [9/52]; p = 0.053, p-value cut-off after Bonferroni correction = 0.025) were less frequently observed with the InnoSEAL haemostatic pad. The time to haemostasis did not differ significantly between the 2 devices (5.6 ± 1.0 vs. 5.3 ± 0.7 minutes; p = 0.118). Multivariable logistic regression analysis showed a lower risk of ASC with the InnoSEAL pad (adjusted OR, 0.174; 95% CI: 0.034-0.890; p = 0.036). Conclusions: No major ASC was seen with either pad, and no significant difference of minor ASC was observed between 2 pads

Transforming growth factor conjugated chitosan film for enhanced osteoblastic activity

골아세포의 생물학적 기능을 증진시키기 위해 키토산의 표면개질에 대하여 연구하였다. 생체적합성 천연고분자인 키토산은 1차 아미노기를 소유하고 있으므로 적정한 공유결합제를 사용하여 세포성장인자와 같은 생리활성을 지닌 단백질을 키토산의 표면에 고정시킬 수 있다. 본 연구에서는 키토산을 필름형태로 제조하여 세포성장인자 중 형질전환성장인자를 고정하고 골아세포의 부착, 성장 및 분화를 증가시키고자 하였다. 형태전환성장인자의 고정화 효율은 단순한 흡착방법에 비해 높았으며, 표면에 형성된 공유결합은 매우 안정하였다. 골아세포를 배양하여 초기세포부착능에 대한 영향을 연구한 결과, 배양 후 4시간, 1일째, 형질전환성장인자를 고정한 키토산 표면에서 고정하지 않은 키토산의 표면에 비해 더 많은 수의 골아세포가 부착되었고, 더 많이 신장된 부착형태를 보였다. 세포활성정도와 배양 후 4주일째의 칼슘축적량을 측정한 결과, 형질전환성장인자를 고정한 키토산 표면에서 고정하지 않은 키토산의 표면에 비해 더 높았다. 위의 결과는 키토산 표면에 형태전환성장인자의 고정이 성공적으로 이루어졌으며, 또한 실제로 활성이 있는 것이 증명되었다. 위의 연구 결과에서 형질전환성장인자로 고정된 키토산은 골아세포의 초기 부착 및 분화를 촉진시켰음을 알 수 있었던 바 성장인자의 표면고정은 임플란트 및 조직공학용 지지체에도 적용하여 생체적합성과 세포기능을 증진시키는데 이용할 수 있음을 알 수 있었