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

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*

No abstract available.
Xanthomatosis*

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.

Objectives: . Nasal valve surgery for internal nasal valve (INV) compromise has become increasingly popular. However, this rise in popularity has sparked debates regarding its indications and disputes over insurance coverage, primarily due to the lack of a gold-standard evaluation method. Therefore, we aimed to identify objective parameters for the INV compromise. Methods: . We analyzed 186 INVs in 93 patients who underwent nasal valve surgery. The data comprised facial computed tomography (CT) images, acoustic rhinometry, the modified Cottle test, and symptom scores. Patients were categorized based on their symptoms and the results of the modified Cottle test. We measured the INV angle, area, volume, lateral wall thickness, septal angle, and nasal bone area using CT. Results: . The compromised INV group, characterized by nasal obstruction with a positive modified Cottle test, exhibited smaller INV areas in both coronal and axial views, reduced INV volume in the axial view, and a thinner lateral wall in the coronal view (all P<0.05). Acoustic rhinometry indicated a smaller minimal cross-sectional area and volume in the compromised INV group (both P<0.001). Regression analysis demonstrated significant associations between a compromised INV and reduced INV area on the axial view, as well as the minimal cross-sectional area measured by acoustic rhinometry. Conclusion . Relying solely on the INV angle in CT scans has limitations in assessing compromised INV. Alternatively, the INV area on axial CT scans and the minimal cross-sectional area measured by acoustic rhinometry may serve as objective parameters for evaluating INV compromise.

Objectives: . Nasal valve surgery for internal nasal valve (INV) compromise has become increasingly popular. However, this rise in popularity has sparked debates regarding its indications and disputes over insurance coverage, primarily due to the lack of a gold-standard evaluation method. Therefore, we aimed to identify objective parameters for the INV compromise. Methods: . We analyzed 186 INVs in 93 patients who underwent nasal valve surgery. The data comprised facial computed tomography (CT) images, acoustic rhinometry, the modified Cottle test, and symptom scores. Patients were categorized based on their symptoms and the results of the modified Cottle test. We measured the INV angle, area, volume, lateral wall thickness, septal angle, and nasal bone area using CT. Results: . The compromised INV group, characterized by nasal obstruction with a positive modified Cottle test, exhibited smaller INV areas in both coronal and axial views, reduced INV volume in the axial view, and a thinner lateral wall in the coronal view (all P<0.05). Acoustic rhinometry indicated a smaller minimal cross-sectional area and volume in the compromised INV group (both P<0.001). Regression analysis demonstrated significant associations between a compromised INV and reduced INV area on the axial view, as well as the minimal cross-sectional area measured by acoustic rhinometry. Conclusion . Relying solely on the INV angle in CT scans has limitations in assessing compromised INV. Alternatively, the INV area on axial CT scans and the minimal cross-sectional area measured by acoustic rhinometry may serve as objective parameters for evaluating INV compromise.

Objectives: . Nasal valve surgery for internal nasal valve (INV) compromise has become increasingly popular. However, this rise in popularity has sparked debates regarding its indications and disputes over insurance coverage, primarily due to the lack of a gold-standard evaluation method. Therefore, we aimed to identify objective parameters for the INV compromise. Methods: . We analyzed 186 INVs in 93 patients who underwent nasal valve surgery. The data comprised facial computed tomography (CT) images, acoustic rhinometry, the modified Cottle test, and symptom scores. Patients were categorized based on their symptoms and the results of the modified Cottle test. We measured the INV angle, area, volume, lateral wall thickness, septal angle, and nasal bone area using CT. Results: . The compromised INV group, characterized by nasal obstruction with a positive modified Cottle test, exhibited smaller INV areas in both coronal and axial views, reduced INV volume in the axial view, and a thinner lateral wall in the coronal view (all P<0.05). Acoustic rhinometry indicated a smaller minimal cross-sectional area and volume in the compromised INV group (both P<0.001). Regression analysis demonstrated significant associations between a compromised INV and reduced INV area on the axial view, as well as the minimal cross-sectional area measured by acoustic rhinometry. Conclusion . Relying solely on the INV angle in CT scans has limitations in assessing compromised INV. Alternatively, the INV area on axial CT scans and the minimal cross-sectional area measured by acoustic rhinometry may serve as objective parameters for evaluating INV compromise.