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Immunoglobulin G4-related disease (IgG4-RD) is a chronic, immune-mediated-, systemic disease that is characterized by IgG4 plasma cell infiltration with fibrotic changes in various organs. The most affected organs are pancreas and salivary glands. Kidney can be rarely involved, and is usually represented as a renal mass and organomegaly. Usually, elevated levels of serum IgG4 more than 135 mg/dl with organ-specific features and biopsy results showing enriched infiltration of IgG4-positive plasma cells are needed to diagnose the disease. However, we experienced two unusual cases of IgG4-RD involving kidney. IgG4-related kidney disease (IgG4-RKD) was first reported as an extra pancreatic feature of autoimmune pancreatitis(AIP) in 2004. Herein, we describe two cases of such unique presentation of IgG4RKD and a literature review focusing on clinicopathologic features of IgG4RKD. Our cases are distinct in the fact that IgG4RD invades unusual organs such as perinephric capsule or scrotum. We reported the patient who showed extinct perirenal capsule invasion with multi-organ involvement including exocrine glands in comparison to previous IgG4RKD that often involved in renal parenchyma and renal pelvis lesions. And the other patient had scrotal invasion with multifocal renal parenchymes. Referring to the features observed in these two cases, we could propose that as every organ can be related to IgG4RD, we propose clinicians to confirm the disease using imaging, serologic, and pathologic studies. We also reviewed previous reports of IgG4-RKD and summarized diverse imaging findings and pathologic features.

Paper description: The use of cryopreserved adipose tissue for soft tissue augmentation is common, but the unpredictability of fat graft viability remains a limitation. We demonstrated the effects of human adipose-derived stem cells (hADSC) plus sphingosylphosphorylcholine (SPC) on the survival of cryopreserved fat grafts in BALB/c male nude mice. The hADSC+SPC group showed higher survival rate in terms of weight and volume than the control or hADSC group. The hADSC+SPC treatment significantly increased the expression of angiogenic factors. These results point to the potential clinical benefit of hADSC+SPC. Abstract: The use of cryopreserved adipose tissue for soft-tissue augmentation is common, but the unpredictability of fat graft viability remains a limitation. Human adipose-derived stem cells (hADSC) have been introduced to enhance viability and improve the survival of transplanted fat tissue. Sphingosylphosphorylcholine (SPC) is a bioactive lipid molecule involved in various cellular responses. SPC stimulates the proliferation of various cell types such as hADSC. We demonstrated the effects of hADSC and SPC on the survival of cryopreserved fat grafts in nude mice. The cryopreserved fat grafts were treated with hADSC or hADSC+SPC, and a normal saline (control) mixture in BALB/c male nude mice. We examined the weight and volume of the mice in each group (n=11) at 8 weeks after transplantation to evaluate the survival of the fat tissue. The hADSC group showed increased weight and volume compared with the control group. The hADSC+SPC group showed a higher survival rate in terms of weight and volume than the control or hADSC group. In addition, the hADSC+SPC treatment significantly increased the expression of angiogenic factors. These results suggest the potential clinical utility of hADSC+SPC. https://doi.org/10.2298/ABS180220015B Received: February 20, 2018; Revised: April 12, 2018; Accepted: April 13, 2018; Published online: April 17, 2018 How to cite this article: Bae YC, Song JS, Nam KW, Kim JH, Nam SB. Effects of increased proliferation of human adipose tissue-derived mesenchymal stem cells by sphingosylphosphorylcholine on the survival of cryopreserved fat grafts. Arch Biol Sci. 2018;70(3):…

To determine the functional relevance of diffusion tensor imaging (DTI) metrics and conventional MRI (signal intensity change in T2, compression ratio) by measuring the correlation of these parameters with clinical outcome measured by the modified Japanese Orthopedic Association (mJOA) score. A total of 20 cervical myelopathy (CM) patients participated in this prospective cohort study. The severities of CM were assessed using the mJOA score. Conventional MRIs (T2-weighted images) measuring the signal changes of spinal cords and the degree of compression at the lesion level and DTI metrics [fractional anisotropy (FA), apparent diffusion coefficient (ADC)] at each lesion and below each lesion (C7/T1) level were acquired using a 3-T Achieva MRI. These parameters were correlated with the mJOA scores to determine the functional relevance. Ninety percent of CM patients showed signal changes and 30 % of patients noted a more than 40% canal compression ratio in conventional MRIs at the lesion level; however, these findings were not correlated with the mJOA score (p

Few reports have described epidermal cysts (ECs) arising from scar tissues, and the standard course of treatment has not been established. We aimed to report the findings of a Korean patient series with ECs arising from scar tissues, to describe patient management in the context of previous publications, and to present a simple algorithm for managing ECs arising from scar tissues. We managed 6 patients with ECs arising from scar tissues, and retrospectively reviewed their demographic and clinical data. The scars were located on the anterior chest wall (n = 3), shoulder (n = 1), forehead (n = 1), and ear lobule (n = 1). Two patients with anterior chest wall scars, 1 with a shoulder scar, and 1 with an ear lobule scar had keloid scars, whereas the other patients had hypertrophic scars. The scar sizes ranged from 2 × 1 cm to 9 × 7 cm. The EC sizes ranged from 0.2 × 0.2 cm to 2 × 1.5 cm. Three patients underwent total scar revisions with complete EC excisions, 2 underwent partial scar tissue excisions with complete EC excisions, and 1 had laser therapy for the scar and EC. No complications occurred, and all patients’ final outcomes were satisfactory during the mean follow-up period of 14.8 months. We successfully managed the patients with ECs arising from scar tissues. We recommend that surgeons and patients first decide whether the ECs and scar tissue should be completely removed. Moreover, consideration should be given to the options chosen for the management of ECs. Finally, postoperative scar care is necessary to prevent hypertrophic and keloid scar recurrences.

Background Vitamin D receptor (VDR) has been suggested to play a role in the pathogenesis of type 1 diabetes mellitus (T1DM). There has been no case–control study examining the association between VDR polymorphisms and T1DM among Korean subjects with a low incidence of T1DM. Methods Eighty-one T1DM patients and 113 unrelated healthy controls with no history of DM or other autoimmune diseases were investigated at either Pusan National University Children's Hospital or Korea University Anam Hospital between March 2009 and September 2013. Polymerase chain reaction–restriction fragment length polymorphism was utilized to genotype single nucleotide substitutions at TaqI, BsmI, and ApaI alleles. Results All frequencies in T1DM and control subjects were in Hardy–Weinberg equilibrium, although ApaI in controls and TaqI in T1DM showed relatively weak equilibrium. TaqI and BsmI differences were significant (P = 0.045 and P = 0.012, respectively) after applying Bonferroni correction. The TT genotype carrier frequency among controls was higher than among the T1DM patients (P = 0.015; OR, 2.98; 95%CI: 1.19–7.42). T allele frequency was higher among controls than T1DM patients (P = 0.019; OR, 2.78; 95%CI: 1.15–6.72). The frequency of bb genotype carriers among controls was higher than among T1DM patients (P = 0.004; OR, 4.13; 95%CI: 1.4–12.10). The frequency of the b allele among controls was higher than that among T1DM patients (P = 0.016; OR, 3.20; 95%CI: 1.19–8.60). Conclusions T and b TaqI and BsmI alleles are protective against T1DM in Korean subjects.

Background The use of cryopreserved adipose tissue for soft tissue augmentation is common, but unpredictability of fat graft viability remains a limitation. Adipose-derived stem cell (ADSC) and stromal vascular fraction (SVF) have been introduced to enhance viability and improve the survival of transplanted fat tissue. Objective To investigate whether supplementation with ADSC or SVF improved the survival of cryopreserved fat grafts. Methods The cryopreserved fat grafts were treated with ADSC, SVF, or normal saline in 30 six-week-old male nude mice to test whether ADSC and SVF could improve the survival of the transplanted fat tissue. The authors examined the weight, volume, and histological features of each group (n = 10) at 8 weeks after transplantation to evaluate the survival of the fat tissue. Results There was no difference between the control and SVF groups with respect to weight, volume, and histological findings. However, the ADSC group showed a significant increase in weight and volume compared with the control and SVF groups. Histological examination showed that the ADSC supplementation improved the quality of the transplanted fat grafts. Conclusion Taken together, these results suggest a potential clinical utility of ADSC but no advantage of SVF in facilitating cryopreserved fat transfer.

Purpose The present study investigated chest computed tomography (CT) patterns and lung histological features, as well as the consistency between radiological and histological features among patients with microscopic polyangiitis (MPA), granulomatosis with polyangiitis (GPA), and eosinophilic GPA (EGPA). Materials and methods The medical records of 74 antineutrophil cytoplasmic antibody-associated vasculitis (AAV) patients with radiological lung parenchymal lesions were reviewed along with the histological results for 28 of them. Chest CT patterns were divided according 12 items mostly suggested by radiologists and histological features were divided according to necrotising granuloma, necrotising vasculitis, eosinophilic infiltration, and hemosiderin laden macrophages as defined by a pathologist. Results The mean age was 57.1 years (22 men). The most common clinical manifestation other than lung manifestation was renal manifestation (62.2%), and the most common chest CT pattern was lung involvement of vasculitis (35.1%). In MPA patients, the major histological features were hemosiderin-laden macrophages in the alveolar space and vasculitis. In GPA patients, the major histological features were necrotizing vasculitis and necrotizing granuloma, while in EGPA patients, the major histological feature was only necrotising vasculitis. The consistency rate in GPA patients was the highest (100%), followed by that in MPA patients (66.7%) and EGPA patients (50.0%). Conclusion When lung involvement of AAV is suspected on chest CT, lung biopsy should be recommended for the proper classification of AAV, due to the discordance rate between radiological and histological findings in MPA and EGPA patients, but not GPA patients.

An ectopic hamartomatous thymoma is an extremely rare benign tumor of the lower neck that is the most common in middle-aged males. Pathologically, the tumor is characterized by a mixture of spindle cells, epithelial cells, mature adipose tissue, and lymphocytes. The histogenesis of this tumor is controversial. Recently, an origin from a remnant of the cervical sinus of His was proposed. Malignant lesions such as synovial sarcomas or malignant peripheral nerve sheath tumors can have similar clinical features and radiologic images. Thus, recognition of this tumor is important because it follows a benign clinical course and conservative surgical excision is the treatment of choice. Here, we report the case of a 34-year-old man with an ectopic hamartomatous thymoma in the left supraclavicular region and a review of the literature on this tumor.

Mutations in the sialidase gene NEU1, located on chromosome 6p21.3, result in the autosomal recessive disorder, sialidosis (MIM# 256550). Sialidosis is subdivided into two main clinical variants with different ages of onset and severity. In Korea, only one newborn with type 2 sialidosis, infantile form, who initially had non-immunological hydrops fetalis (NIHF) has been reported. We recently encountered a case of type 2 sialidosis that presented with isolated fetal ascites.

Kabuki syndrome (KS) (OMIM#147920) is a multiple congenital anomaly/mental retardation syndrome. Recently, pathogenic variants in KMT2D and KDM6A were identified as the causes of KS in 55.8–80.0% of patients. To elucidate further the molecular characteristics of Korean patients with KS, we screened a cohort of patients with clinically defined KS for mutations in KMT2D and KDM6A. Whole-exome sequencing and direct sequencing for validation were performed in 12 patients with a clinical suspicion of KS. KMT2D and KDM6A mutations were identified in 11 (91.7%) patients. No recurrent mutation was observed, and 10 out of the 11 mutations found were novel. KMT2D mutations were detected in 10 patients, including four small deletions or insertions and four nonsense and two missense mutations. One girl had a novel splice-site mutation in KDM6A. Each patient had a unique individual mutation. This is the first report of mutational analysis via exome sequencing in Korean patients with KS. Because the mutation-detection rate was high in this study, rigorous mutation analysis of KMT2D and KDM6A may be an important tool for the early diagnosis and genetic counseling of Korean patients with KS.

Objective Well-differentiated papillary mesothelioma is an uncommon subtype of mesothelioma with a frequently indolent course, although it occasionally manifests in a more aggressive form. To establish a treatment strategy for this rare disease, we report the clinical characteristics and outcomes of 15 patients with well-differentiated papillary mesothelioma. Methods All pathologically diagnosed well-differentiated papillary mesothelioma cases were reviewed between 1998 and 2012. Results Of the 15 cases, 8 and 7 presented with single and multiple lesions, respectively. All cases with single lesions were asymptomatic, while 4 out of the 7 cases with multiple lesions were symptomatic. After tumor excision, none of the eight single-lesion cases experienced tumor recurrence. Among the other seven cases with multiple lesions, only one patient with disseminated lesions died due to disease burden. Five patients with multiple lesions received cisplatin-based intravenous or intraperitoneal chemotherapy, with a mix of complete (n= 2) and partial (n= 2) responses observed. Of particular note, one patient receiving cisplatin and pemetrexed combination chemotherapy experienced complete tumor resolution without any serious toxicity. Conclusions We recommend different treatment strategies based on the disease status. If the tumor is completely resectable, an excisional biopsy seems to be sufficient. If complete resection is unavailable for the asymptomatic patient with a localized tumor extent, close follow-up is an appropriate option. When the tumor is extensive or accompanied by symptoms, chemotherapy should be strongly considered.

The Prototheca species is achlorophyllic algae and rarely causes human infection. Human protothecosis presents clinically as a cutaneous infection, olecranon bursitis, and disseminated systemic disease. We report a case of human cutaneous protothecosis involving the left wrist. A 68-year-old man presented with an ill-defined erythematous lesion with crust at the dorsal aspect of his left wrist. A punch biopsy was performed to reveal the histologic features of granulomatous inflammation with necrosis at the upper dermis, containing Prototheca organisms, of which, the characteristic features were highlighted by special staining. Through a molecular study, the Prototheca zopfii species was identified.

Vitiligo is a common skin disease, but its pathogenesis has not been fully determined, though an autoimmune etiology is considered likely. Kawasaki disease (KD) is an acute multisystem vasculitis of childhood associated with coronary arteriopathy, and is diagnosed based on clinical criteria. Furthermore, vitiligo has been associated with several other diseases, but no report has been issued about the relationship between vitiligo and Kawasaki's disease. The author's report the case of an 8-year-old male child that presented with depigmented lesions, which developed from the desquamative skin lesions of Kawasaki's disease.

The aim of this study was to identify ultrasonographic findings that show the normal faecal-impacted appendix, in order to avoid unnecessary surgery via a misdiagnosis of acute appendicitis. Of 160 patients who underwent ultrasonography between January 2004 and July 2005 for right lower quadrant pain, 22 cases (including 7 cases confirmed pathologically and 15 confirmed clinically and on follow-up ultrasonography) were diagnosed as a normal faecal-impacted appendix. The criteria that we used to distinguish a faecal-impacted appendix from acute appendicitis include preservation of the normal wall layering of the appendix, maximum mural thickness, presence of peri-appendiceal fat infiltration and increased blood flow in the appendiceal wall. The maximum measured outer diameter of a normal faecal-impacted appendix was 0.54-1.03 cm, with a mean diameter of 0.68 cm. The maximum mural thickness ranged from 0.08 cm to 0.26 cm, with a mean thickness of 0.15 cm. The normal wall layers of the appendix were preserved and no evidence was seen of peri-appendiceal fat infiltration in any case. No demonstrably increased blood flow in the appendiceal wall was observed. In conclusion, faecal impaction increases the outer transverse diameter of the normal appendix, frequently leading to a misdiagnosis of acute appendicitis. Recognition of preservation of the normal layering of the appendiceal wall, smaller maximal outer diameter, thinner maximal mural thickness, the absence of peri-appendiceal mesenteric infiltration and no demonstrably increased blood flow in the appendiceal wall should help to prevent unnecessary surgery.

Purpose: To clarify the role of vascular endothelial growth factor (VEGF) expression as an independent prognostic factor in Stage IB cervical cancer. Methods and Materials: A total of 117 patients with Stage IB cervical cancer who had undergone radical hysterectomy and pelvic lymph node dissection with complete histopathologic examination were included. Eighty-eight (75.2%) patients received postoperative radiotherapy and/or chemotherapy. VEGF expression was examined using immunohistochemistry. Results: Of 117 patients, 35 (29.9%) showed high-intensity VEGF expression and 69 (59%) had a high score for area of VEGF expression. Strong correlations were found between high VEGF intensity and both deep stromal invasion ( p = 0.01) and positive pelvic lymph nodes ( p = 0.03). The area of VEGF expression was significantly associated with tumor size ( p = 0.02). In a multivariate analysis, high VEGF intensity ( p = 0.009) and tumor size ( p = 0.01) were significant prognostic factors for overall survival and disease-free survival ( p = 0.001 and p = 0.003, respectively). However, the area of VEGF expression was not a prognostic factor for overall survival or disease-free survival. Conclusion: Our findings on the correlation between VEGF expression and prognosis were conflicting. Functional and quantitative tools to assess tumor angiogenesis in addition to the expression of VEGF need to be developed and would be helpful to support the finding that tumor angiogenesis correlates significantly with prognosis in early-stage cervical cancer.

Gastrocolic fistula is a fistulous communication between the stomach and the colon. It is a passage between the gastric epithelium and the colonic epithelium. This uncommon complication is caused by benign and malignant diseases of the stomach or the colon. Its clinical manifestations include weight loss, diarrhea and fecal vomiting; occasionally, anemia, poor oral intake, fatigue and dizziness; and very rarely, gastrointestinal bleeding. In this paper, an unusual case of gastrocolic fistula accompanied by hematochezia, which was revealed to have been caused by colon cancer invasion, is described.

목 적 : 소아 IgA 신병증의 임상 양상 및 병리학적 분류(Haas 분류)와 임상 경과와의 상관 관계를 조사하여 이들이 예후를 반영할 수 있는지 알아보고자 하였다. 방 법 : 병리학적으로 IgA 신병증으로 진단받고 추적 중이던 환자들 중 추적 신생검을 시행한 20명의 환자를 대상으로 후향적으로 자료를 분석하였다. 결 과 : 최초 신생검시 평균 9.5세였고 남자 16명, 여자 4명이었으며, 최종 조직 검사까지 평균 10.8년이 경과하였다. 안지오텐신 전환효소 억제제 등으로 치료를 지속한 후 정상뇨 소견, 정상 혈압, 정상 크레아티닌 청소율(CCr)을 보이는 임상적 관해 상태의 환자는 10명(50%)이었으며, 비관해 상태의 환자 10명(50%)도 초기와 비교하여 호전된 경과를 보였고, CCr이 중등도 이상 저하되거나 말기 신질환 양상을 보이는 환자는 없었다. 최초 Haas 분류는 임상경과와 상관 관계가 없었다. 초기 고혈압은 5명(25%)에서 보였고 이는 임상 경과(P =0.010) 및 최종 Haas 분류(P =0.007)와 유의성이 있었다. 초기 CCr의 중등도 저하는 Haas 분류와 유의성이 있었으나(P =0.048), 임상 경과와는 상관관계가 없었다. 결 론 : 소아 IgA 신병증의 추적 기간 중 임상 경과는 양호하나 최초 Haas 분류로 임상 경과를 예측할 수는 없었으나 적극적인 조기 진단 및 치료로 말기 신질환으로의 진행을 지연시킬 수 있을 것으로 보인다. 초기 고혈압은 임상 경과 및 최종 Haas 분류와 유의한 상관관계를 보여 적합한 예후인자로 보인다. 최초 병리학적 소견은 임상 경과를 반영하지 못하나, 추적 Haas 분류가 예후를 반영할 수 있을지에 대해서는 보다 많은 추적 관찰 및 추적 신생검을 통한 연구가 있어야 할 것으로 보인다. 【Purpose : We know little about the natural course of IgA nephropathy (IgAN) in association with histologic changes especially in children. We investigated clinicopathologic features with long-term follow-up biopsy to clarify the outcomes and prognostic indicators for childhood IgAN. Methods : From our patients' medical records, we retrieved 20 patients with IgAN, to whom renal biopsies had been performed for the initial diagnosis and follow-up to find out any histologic changes. Initial and follow-up biopsies were classified by Haas classification. The changes of these parameters were compared with the evolution of clinical features. Results : Patients were treated with angiotensin-converting enzyme inhibitors in combination with angiotensin receptor blockers (in subclass II or above) and short-term cyclosporine A(in patients showing nephrotic syndrome). Histologic improvement in 7 cases and deterioration in 3 cases were observed. At the time of last biopsy, 10 cases (50%) showed clinical remission and the others showed improved clinical features. These clinical outcomes did not correlate with initial Haas classifications. Hypertension at onset observed in 5 cases (25%) revealed significant correlation with clinical outcome (P =0.01) and last Haas classification (P =0.007). None of the cases showed progression to CRF or ESRD. Conclusion : During a mean follow-up of $10.8{\pm}3.4$ years, childhood IgAN showed good clinicopathologic outcome. Hypertension at onset was only a strong predictor of clinicopathologic outcomes, but initial Haas classification cannot predict outcomes in children. Histologic change of IgAN in long term follow-up period cannot be completely predicted by clinical data and vice versa. Therefore, a renal biopsy should be considered as a part of follow-up plan.】

Trichoblastoma is occasionally observed in association with a pre-existing nevus sebaceous in the Korean literature. However, there has been no report on the pigmented type. Herein, we report the first Korean case of a pigmented trichoblastoma arising from the nevus sebaceous on the forehead. A 28-year-old male presented with a dark nodular lesion within a yellowish plaque on the forehead. The surrounding yellowish plaque on the forehead had existed since birth. The central, dark-pigmented nodule began to appear three years ago and enlarged gradually. Histopathologic findings of central pigmented lesion showed heavy melanin deposits within and around the tumor nests. Complete excision was made as treatment.

HWW(Herlyn-Werner-Wunderlich) 증후군은 중복자궁, 일측성 폐쇄질 및 동측 신장 무형성을 보이는 비뇨생식기계의 선천성 기형으로 매우 드문 질환 중 하나이다. 대부분 초경 이후 발생하는 월경통이나 복강내 종물등으로 발견되지만, 본 증례는 소아에서 반복되는 요로 감염과 현미경적 혈뇨로 인해 진단된 경우이다. 복부 초음파 검사에서 일측 신무형성이나 중복 자궁의 소경이 보일 때는 이러한 뮬러관 기형의 가능성을 염두에 두어야 보다 빠른 진단이 가능하고, 환자의 고통 또한 중여줄 수 있을 것이다. 특히 반복되는 요로 감염시에도 단순한 감염 치료보다 정밀검사를 항상 염두에 두어야 할 것이다. 【Herlyn-Werner-Wunderlich syndrome(HWWs) is a rare variant of Mullerian ductal anomalies characterized by the presence of a hemivaginal septum, a didelphic uterus, and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain, and palpable mass due to hemihematocolpos. If a cystic mass is detected behind the urinary bladder in children, in association with the absence of a kidney, the diagnosis of uterus didelphys with imperforate vagina and hydrocolpos should be considered. When renal agenesis is found in asymptomatic children, the small size and the tubular shape of the uterus makes it almost impossible to evaluate uterine anomalies, so follow-up should be performed until the end of puberty. Appropriate preoperative diagnosis and treatment will prevent unnecessary procedures and offer relief of symptoms. We report one case of didelphic uterus with blind hemivagina and ipsilateral renal agenesis with biopsy- proven thin glomerular basement membrane disease which is not related to the above syndrome.】

Dept. of Pathology Yonsei University Wonju College of Medicine, Dept. of Preventive Medicine, Industrial Medical Center, The Catholic University of Korea, Dept. of Preventive Medicine and Institute of Occupational Medicine, Dept. of Internal Medicine, Korea Labor Welfare Corporation, Yonsei University Wonju College of Medicine, Korea Occupational Safety and Health Research Institute, Dept. of Pathology School of Medicine, Kyungpook National University, Chonbuk National University, Medical School Konyang University College of Medicine, College of Medicine, Kwandong University