Hereditary anhidrotic ectodermal dysplasia is a rare condition characterized by underdeveloped ectodermal structure including the skin, teeth or skin appendages. The patient has characteristic feature of anhidrosis, hypotrichosis and defective dentition. We experienced a case of hereditary anhidrotic ectodermal dysplasia in a l-month-old male infant who had unexplained recurring fever, anhidrosis and characteristic facial feature, so we established the diagnosis with clinical feature and skin biopsy.
Biopsy ; Dentition ; Diagnosis ; Ectoderm ; Ectodermal Dysplasia* ; Fever ; Humans ; Hypohidrosis ; Hypotrichosis ; Infant ; Male ; Skin ; Tooth

No abstract available.
Xanthomatosis*

PURPOSE: Recently the use of penile prostheses in patients with spinal cord injury(SCI) has been beneficial for sexual dysfunction, maintenance of external devices and the treatment of penile skin lacerations. We reviewed 50 patients with SCI who had been followed for more than five years after penile prosthetic implantation, particularly in regard to surgical success rate and complication rate. MATERIALS AND METHODS: From 1988 to 1993, 102 penile prostheses were implanted in 50 patients with SCI. Penile prosthetic implantation was done for sexual dysfunction in 29 patients and for sexual dysfunction and urinary management in 21 patients. The types of penile prostheses were malleable in 13 patients, Dynaflex in 35 patients and AMS 700 CXM in two patients. RESULTS: We experienced prosthetic infection in six patients, mechanical failure in three patients, urethral erosion in two patients and penile skin necrosis in one patient. The overall surgical success rate was 88% and the five-year complication rate was 24%. CONCLUSIONS: Though the complication rate of penile prosthetic implantation in patients with SCI was higher than in the general population, penile prosthetic implantation improves the quality of life with regard to sexual function and urinary management in patients with SCI.
Follow-Up Studies* ; Humans ; Lacerations ; Necrosis ; Penile Prosthesis* ; Quality of Life ; Skin ; Spinal Cord Injuries* ; Spinal Cord*

Purpose: Pancreatic cancer (PC) is one of the most lethal cancers worldwide, but there are currently no effective treatments. The DNA damage response (DDR) is under investigation for the development of novel anti-cancer drugs. Since DNA repair pathway alterations have been found frequently in PC, the purpose of this study was to test the DDR-targeting strategy in PC using WEE1 and ATM inhibitors. Materials and Methods: We performed in vitro experiments using a total of ten human PC cell lines to evaluate antitumor effect of AZD1775 (WEE1 inhibitor) alone or combination with AZD0156 (ATM inhibitor). We established Capan-1–mouse model for in vivo experiments to confirm our findings. Results: In our research, we found that WEE1 inhibitor (AZD1775) as single agent showed anti-tumor effects in PC cells, however, targeting WEE1 upregulated p-ATM level. Here, we observed that co-targeting of WEE1 and ATM acted synergistically to reduce cell proliferation and migration, and to induce DNA damage in vitro. Notably, inhibition of WEE1 or WEE1/ATM downregulated programmed cell death ligand 1 expression by blocking glycogen synthase kinase-3β serine 9 phosphorylation and decrease of CMTM6 expression. In Capan-1 mouse xenograft model, AZD1775 plus AZD0156 (ATM inhibitor) treatment reduced tumor growth and downregulated tumor expression of programmed cell death ligand 1, CMTM6, CD163, and CXCR2, all of which contribute to tumor immune evasion. Conclusion Dual blockade of WEE1 and ATM might be a potential therapeutic strategy for PC. Taken toget

Epidemiological studies of monoclonal B-cell lymphocytosis (MBL) have been conducted in limited geographical regions. Little is known about the prevalence of MBL in Asia. We investigated the prevalence and immunophenotypic characteristics of MBL in Koreans who had idiopathic lymphocytosis (lymphocyte count >4.0×109/L) and were ≥40 years of age. A total of 105 leftover peripheral blood samples met these criteria among those from 73,727 healthy individuals who visited the Health Promotion Center, Samsung Medical Center, Korea, from June 2018 to August 2019. The samples were analyzed using eight-color flow cytometry with the following monoclonal antibodies: CD45, CD5, CD10, CD19, CD20, CD23, and kappa and lambda light chains. The overall prevalence of MBL in the study population was 2.9% (3/105); there was one case of chronic lymphocytic leukemia (CLL)-like MBL (CD5+CD23+), one case of atypical CLL-like MBL (CD5+CD23−), and one case of CD5−MBL with a lambda restriction pattern. This is the first study on the MBL prevalence in an East Asian population, and it reveals a relatively low prevalence of MBL in healthy Korean individuals with lymphocytosis.

Purpose: To investigate the usefulness of imaging features for differentiating between small lobular carcinoma in situ (LCIS) and invasive lobular carcinoma (ILC). Materials and Methods: It included 52 female with LCISs (median 45 years, range 32–67 years) and 180 female with ILCs (median 49 years, range 36–75 years), with the longest diameter of ≤ 2 cm, who were evaluated between January 2012 and December 2016. All the female underwent mammography and ultrasonography. Twenty female with LCIS and 150 female with ILC underwent MRI. The clinical and imaging features were compared, and multivariate analysis was performed to identify the independent predictors of LCIS. Female with LCIS were also subgrouped by lesion size and compared with the female with ILC. Results: Multivariate analysis showed that younger age (odds ratio [OR] = 1.100), smaller lesion size (OR = 1.103), oval or round shape (OR = 4.098), parallel orientation (OR = 5.464), and isoechotexture (OR = 3.360) were significant independent factors predictive of LCIS. The area under the receiver operating characteristic curve for distinguishing LCIS from ILC was 0.904 (95% confidence interval, 0.857–0.951). Subgroup analysis showed that benign features were more prevalent in female with smaller LCISs (≤ 1 cm) than in those with ILC. Conclusion Small LCISs tend to demonstrate more benign features than small ILCs. Several imaging features are independently predictive of LCIS.

Purpose: To investigate the usefulness of imaging features for differentiating between small lobular carcinoma in situ (LCIS) and invasive lobular carcinoma (ILC). Materials and Methods: It included 52 female with LCISs (median 45 years, range 32–67 years) and 180 female with ILCs (median 49 years, range 36–75 years), with the longest diameter of ≤ 2 cm, who were evaluated between January 2012 and December 2016. All the female underwent mammography and ultrasonography. Twenty female with LCIS and 150 female with ILC underwent MRI. The clinical and imaging features were compared, and multivariate analysis was performed to identify the independent predictors of LCIS. Female with LCIS were also subgrouped by lesion size and compared with the female with ILC. Results: Multivariate analysis showed that younger age (odds ratio [OR] = 1.100), smaller lesion size (OR = 1.103), oval or round shape (OR = 4.098), parallel orientation (OR = 5.464), and isoechotexture (OR = 3.360) were significant independent factors predictive of LCIS. The area under the receiver operating characteristic curve for distinguishing LCIS from ILC was 0.904 (95% confidence interval, 0.857–0.951). Subgroup analysis showed that benign features were more prevalent in female with smaller LCISs (≤ 1 cm) than in those with ILC. Conclusion Small LCISs tend to demonstrate more benign features than small ILCs. Several imaging features are independently predictive of LCIS.

OBJECTIVE: This study was designed to investigate 1) sleep changes after antidepressant(dothiepin) treatment, and 2) sleep variables which seem to be associated with clinical response in the depressed patients. METHODS: The subjects consisted of 16 patients who fullfilled the criteria for major depression by the Diagnostic and Statistical Manual,(4th edition). Their sleep was recorded using polysomnography at the baseline and after one week and three weeks of dothiepin treatment. All subjects were further interviewed using Hamilton Rating Scale for Depression (HRSD) to rate the severity of their depression. High response to the drug was defined as a reduction of more than 50% of the HRSD score. Result : The results were as follows : 1) Depressed patients after dothiepin treatment showed more total sleep time(p=0.019), shorter sleep latency(p=0.05), less awake time(p=0.033), more sleep efficiency(p=0.018), more stage 2 sleep(p=0.002), less REM time(p=0.000), and longer REM sleep latency(p=0.004) than before treatment. 2) There were no differences in sleep variables between those who received 1 week and 3 weeks of dothiepin treatment except of th shortening of sleep latency after 3 weeks(p<0.05). 3) Depressive symptom scores on HRSD were reduced after 1 week and 3 weeks of dothiepin treatment as compared with the baseline. 4) High responers showed a tendency of increased wake time(p=0.054), while their stage 4 sleep decreased after 1 week of dothiepin treatment as compared with the low responders(p=0.0136). Conclusions : These results suggest that sleep of the depressed patients after dothiepin treatment tends to be nomalized and sleep chages seem to appear early in the treatment phase. In addition, clinical response might be associated with greater wake time at the baseline and lesser atage 4 sleep 1 week of dothiepin treatment.
Depression ; Dothiepin ; Humans ; Polysomnography ; Sleep, REM

Although extrahepatic metastasis of hepatocellular carcinoma are frequent as about 64%, implants involving the peritoneum are rare. We presented a cases, whieh is hepatocellular carcinoma with metastasis to visceral peritoneum revealing multiple, hard, variable-sized and nodular mass including large mass over 10 cm in size. The presence of tumor was diagnosed by serum alpha fetoprotein, abdaminal CT, celiac and SMA angiography and biopsy with laparoscopy.
alpha-Fetoproteins ; Angiography ; Biopsy ; Carcinoma, Hepatocellular* ; Laparoscopy ; Neoplasm Metastasis* ; Peritoneum

OBJECTIVE: Human embryonic stem (ES) cells have a great potential in regenerative medicine and tissue engineering. The human ES cells could be differentiated into specific cell types by treatments of growth factors and alterations of gene expressions. However, the efficacy of guided differentiation and isolation of specific cells are still low. In this study, we characterized isolated cells from differentiated human ES cells by magnetic activated cell sorting (MACS) system using specific antibodies to cell surface markers. METHODS: The undifferentiated hES cells (Miz-hESC4) were sub-cultured by mechanical isolation of colonies and embryoid bodies were spontaneously differentiated with DMEM containing 10% FBS for 2 weeks. The differentiated cells were isolated to positive and negative cells with MACS system using CD34, human epithelial antigen (HEA) and human fibroblast (HFB) antibodies, respectively. Observation of morphological changes and analysis of marker genes expression were performed during further culture of MACS isolated cells for 4 weeks. RESULTS: Morphology of the CD34 positive cells was firstly round, and then it was changed to small polygonal shape after further culture. The HEA positive cells showed large polygonal, and the HFB positive spindle shape. In RT-PCR analysis of marker genes, the CD34 and HFB positive cells expressed endodermal and mesodermal genes, and HEA positive cells expressed ectodermal genes such as NESTIN and NF68KD. The marker genes expression pattern of CD34 positive cells changed during the extension of culture time. CONCLUSION: Our results showed the possibility of successful isolation of specific cells by MACS system from undirected differentiated human ES cells. Thus, MACS system and marker antibodies for specific cell types might be useful for guided differentiation and isolation of specific cells from human ES cells.
Antibodies ; Ectoderm ; Embryoid Bodies ; Endoderm ; Fibroblasts ; Gene Expression ; Humans* ; Intercellular Signaling Peptides and Proteins ; Mesoderm ; Nestin ; Regenerative Medicine ; Tissue Engineering