Cytokines released from human adipose tissue-derived stem cells by bFGF stimulation: Effects of IL-8 and CXCL-1 on wound healing.

Objectives: Adipose-derived stem cells (ADSCs) are widely used in wound care because they release a variety of cytokines. However, the molecular mechanism of paracrine action remains unclear. It has been reported that basic fibroblast growth factor (bFGF) enhances the therapeutic potential of ADSCs. In this study, we searched for cytokines whose release from ADSCs is enhanced by bFGF stimulation. Results: Quantitative RT-PCR and ELISA analyses revealed that bFGF upregulates CXCL-1 and IL-8 mRNA synthesis and secretion from ADSCs. Both cytokines showed the ability to promote important processes for wound healing, including tube formation of vascular and lymphatic endothelial cells and cell migration of fibroblasts in vitro. Conclusions: These results suggest that bFGF stimulation increases the secretion of CXCL-1 and IL-8 from ADSCs and that these cytokines may promote angiogenesis, lymphangiogenesis, and cell migration, leading to enhanced efficiency of wound healing.

Sustained effect of leukocytapheresis/granulocytapheresis versus anti-human TNF-α monoclonal antibody on ulcerative colitis: A 2-year retrospective study.

Although anti-tumor necrosis factor-α monoclonal antibody biological preparations (BP) agents are widely used as an established treatment tool for refractory ulcerative colitis (UC), whether leukocytapheresis/granulocytapheresis (L/G-CAP) has similar beneficial impact on the disease activity remains undetermined. Furthermore, the costs defrayed for the treatment with these 2 modalities have not been compared. We retrospectively evaluated whether L/G-CAP offered sustained beneficial effects over 2-year period. The patients who had moderately to severely active UC (Rachmilewitz clinical activity index (CAI) ≧ 5) and were treated with a series (10 sessions) of L/G-CAP (n = 19) or BP (n = 7) as an add-on therapy to conventional medications were followed. Furthermore, the cost-effectiveness pertaining to the treatment with L/G-CAP and BP was assessed over 12 months. At baseline, L/G-CAP and BP groups manifested similar disease activity (CAI, L/G-CAP; 7.0 [6.0-10.0], BP; 10.0 [6.0-10.0], P = .207). The L/G-CAP and BP treatment suppressed the activity, with CAI 1 or less attained on day 180. When the L/G-CAP group was dichotomized into L/G-CAP-high and L/G-CAP-low group based on CAI values (≥3 or < 3) on day 365, CAI was gradually elevated in L/G-CAP-high group but remained suppressed in L/G-CAP-low group without additional apheresis for 2 years. Anemia was corrected more rapidly and hemoglobin levels were higher in BP group. The cost of the treatment with L/G-CAP over 12 months was curtailed to 76% of that with BP (1.79 [1.73-1.92] vs 2.35 [2.29-3.19] million yen, P = .028). L/G-CAP is as effective as BP in a substantial number of patients over 2 years. The cost for the treatment of UC favors L/G-CAP although the correction of anemia may prefer BP. Thus, L/G-CAP can effectively manage the disease activity with no additional implementation for 2 years although further therapeutic modalities might be required in a certain population with high CAI observed on day 365.

Acetabular morphological variation in Asian patients with femoral neck fracture: A three-dimensional CT-based study.

AIMS: The acetabular morphology varies greatly among individuals, and hypoplasia is more common in Asia than in Europe. Dislocation after bipolar hip arthroplasty (BHA) for femoral neck fracture occurs at a constant rate, and is affected by the acetabular morphology. This study aimed to clarify individual differences in the acetabula of Asian patients with displaced femoral neck fractures. PATIENTS AND METHODS: Fifty patients with displaced femoral neck fractures were assessed (50 fractured hips, 50 non-fractured hips). On CT corrected by the anterior pelvic plane, the 100 hips were assessed regarding acetabular coverage (six parameters), acetabular depth (two parameters), and acetabular opening angle (four parameters). Additional parameters related to the fracture and sex were examined. The percentile of each parameter was shown for all hips. RESULTS: There was no patient with hip dysplasia defined as superior acetabular sector angle (SASA) less than 110° Compared with men, women had a significantly smaller anterior acetabular sector angle (AASA) (p = 0.016), and significantly larger acetabular inclination angle (p = 0.006) and acetabular index angle (p = 0.034). In the group with a normal SASA, seven hips (7.3%) had an anterior wall defect (AASA<50°) and five hips (5.2%) had a posterior wall defect (posterior acetabular sector angle<90°). CONCLUSION: Older adults with femoral neck fractures can have anterior wall and posterior wall defects, even if their SASA is normal. Hidden acetabular dysplasia may be related to post-BHA dislocation. So, our results suggest that is important to accurately evaluate the acetabulum of patients with femoral neck fracture before surgery.

Thorax anthropometric position index: a simple evaluation of the inframammary fold position in the thorax.

Appropriate positioning of the inframammary fold (IMF) is essential for breast reconstruction. The purpose of this study was to quantitatively measure and evaluate the anthropometric position of the IMF in the thorax. A total of 145 Japanese women with unilateral breast cancer were analyzed. To indicate the superior-inferior position of the IMF on the non-diseased side, the distances from the sternal notch (SN) to the IMF along the midline (SN-IMFM) and from the SN to the umbilicus (UB) (SN-UB) were measured. A new index, the thorax anthropometric position (TAP) index for the IMF, was then defined as the ratio of SN-IMFM to SN-UB. The TAP index was calculated for each patient, and its correlations with demographic parameters, including age, body height, and body mass index, were statistically assessed. The TAP index was normally distributed and ranged from 0.500 to 0.704, with a mean of 0.590. Multivariate analysis revealed that age was an independent factor associated with a higher TAP index (p < .01). In addition, the paired t-test showed that the TAP index was significantly greater in the standing position than in the supine position (p < .001). The position of the IMF in the thorax could be objectively described by the TAP index, and it was suggested to become inferior with age and the standing position. The index, along with these findings, will provide useful information for the evaluation of the breast contour in an objective and simple manner.

Tubulointerstitial nephritis with monotypic lympho-plasmacytic infiltrates in a patient with primary Sjögren's syndrome accompanied by IgA-type monoclonal gammopathy.

BACKGROUND: Although most cases of tubulointerstitial nephritis in paraproteinemia are monoclonal light chain deposition-mediated, interstitial nephritis as neoplastic interstitial cell infiltration has rarely been described. On the other hand, lympho-plasma-cell-rich tubulointerstitial nephritis, in which the infiltrative cells are usually polytypic, is often evident in primary Sjögren's syndrome (pSS). Herein we present a rare case of pSS in a patient who had been diagnosed as having IgA kappa-type monoclonal gammopathy of undetermined significance (MGUS) and developed tubulointerstitial nephritis with monotypic (IgA kappa) lympho-plasmacytic infiltrates. CASE PRESENTATION: A 74-year-old Japanese woman with pSS who had been diagnosed as having IgA kappa-type MGUS developed progressive renal dysfunction. Renal biopsy revealed tubulointerstitial nephritis with abundant plasma cell-rich mononuclear cell infiltrates without atypia. Immunohistochemical staining for immunoglobulins and light chains showed that most infiltrates were positive for IgA and kappa. Most of the infiltrative cells were positive for CD38 and CD138, and cells positive for CD 19 and CD 45 were also widely evident. Electron microscopy and immunofluorescence studies revealed no apparent immunological deposits in the glomeruli and tubules. Bone marrow and whole-body radiological examinations revealed no findings suggestive of multiple myeloma or lymphoma. Renal function improved rapidly with prednisolone 40 mg daily and has been maintained at the same level on low-dose prednisolone and azathioprine for 18 months. CONCLUSION: Tubulointerstitial nephritis with monotypic cell infiltrates, without immunological deposits, is a quite rare histological picture in MGUS, and might be a unique renal manifestation in patients with pSS.

Evaluation of anatomical pelvic parameters between normal, healthy men and women using three-dimensional computed tomography: a cross-sectional study of sex-specific and age-specific differences.

BACKGROUND: Sagittal spinal balance and standing posture are affected by pelvic morphology, especially pelvic incidence (PI). However, it is not difficult to identify the hip center because of overlap of the pelvis, image contrast, and soft tissue artifacts. Measurements of PI are not always suitable in all patients, especially those with osteoarthritis of the hip joint whose femoral head is nonspherical, subluxed, or dislocated. We measured PI, pelvic tilt (PT), and sacral slope (SS) as anatomical parameters using a novel three-dimensional measurement in order to compare the pelvic morphology between normal, healthy men and women. METHODS: In this cross-sectional study, we evaluated 108 Japanese subjects (55 men, 53 women) without low back or knee pain. We used the three-dimensional pelvis model adjusted to the anterior pelvic plane and measured the pelvic parameters. The subjects were stratified by age (< 50 versus ≥ 50 years) and sex. Intraobserver and interobserver reliabilities were calculated with intraclass correlation coefficients. RESULTS: There was no significant difference in PI, anatomical-PT, and anatomical-SS between sexes. There was a strong correlation between PI and anatomical-SS in men and women (R = 0.790 and 0.715, respectively). Values of anatomical-PT were lower, and values of anatomical-SS were greater among older subjects than among younger subjects; the value of PI was similar between younger and older subjects. Intraobserver and interobserver mean absolute differences were about 2 mm and 2°, respectively; the intraclass correlation coefficient was > 0.87. CONCLUSIONS: We found a strong correlation between PI and anatomical-SS in men and women. This novel measurement concept may be useful to estimate PI from anatomical-SS because the measurements of PI are not always suitable in all patients, especially those with osteoarthritis of the hip joint whose femoral head is not spherical or whose femoral head is subluxed or dislocated. This is the first report to describe the relationship between PI, anatomical-PT, and anatomical-SS as morphologic parameters with a high interclass correlation coefficient for intraobserver and interobserver reliabilities.

Exposed Artificial Plate Covered With Perifascial Areolar Tissue as a Nonvascularized Graft.

Perifascial areolar tissue (PAT) is a loose connective tissue on deep fascia, such as on the groin, thigh, or temporal region, which has abundant vascular plexus and mesenchymal stem cells. Nonvascularized PAT grafts can survive even on hypovascular wound beds. Therefore, PAT grafting is a possible alternative to conventional flap surgery to cover exposed bone or artifacts. In this article, we describe 2 cases of PAT grafting for the treatment of skin ulcers with exposed bone and artificial plate after mandible reconstruction. After negative-pressure wound therapy, PAT was used to covering exposed artificial plate for both cases, and a skin graft onto the PAT graft was performed in 1 case. The ulcers improved in both cases without recurrence. The gold-standard treatment of intractable ulcers and fistulas with an exposed tendon, bone, or artifact is coverage by a well-vascularized skin flap. However, PAT grafting has advantages in similar situations, occasionally together with skin grafting and/or negative-pressure wound therapy, because it is technically simple and less invasive.

Evaluation of pelvic morphology in female patients with developmental dysplasia of the hip using three-dimensional computed tomography: A cross-sectional study.

BACKGROUND: The purpose of this study is to measure pelvic morphology with respect to the pelvic incidence, pelvic tilt, and sacral slope using 3-dimensional measurement and to compare the pelvic morphology between the normal population and women with developmental dysplasia of the hip (center-edge angle, <25°). We hypothesized that the relationship between pelvic incidence, anatomical pelvic tilt, and anatomical sacral slope would be different between normal subjects and patients with developmental dysplasia of the hip. METHODS: We evaluated 61 healthy women without low back or knee pain and 71 patients with developmental dysplasia of the hip. We used the 3-dimensional pelvis model adjusted to the anterior pelvic plane and measured the pelvic parameters. To determine correlation, we used Pearson's coefficients. To evaluate variation, we used intraclass correlation coefficients. RESULTS: Pelvic incidence and anatomical pelvic tilt were significantly greater by 4° in the group with developmental dysplasia of the hip than in the normal group (p = 0.026 and < 0.001, respectively). The vertical distance from hip axis to the center of the S1 endplate was significantly greater in the group with developmental dysplasia of the hip than in normal group, that is, by 8 mm (p < 0.001). There was a strong correlation between pelvic incidence and anatomical sacral slope in both groups (R = 0.707 and 0.897, respectively). The intraobserver and interobserver mean absolute differences were about 2 mm and 2°, respectively, and the intraclass correlation coefficient was >0.88. CONCLUSION: Pelvic incidence and anatomical-pelvic tilt were significantly greater in patients with developmental dysplasia of the hip. We found a strong correlation between the pelvic incidence and anatomical sacral slope in both groups. Therefore, anatomical-sacral slope may be useful for estimating pelvic incidence because it is not easily measured, especially in patients with osteoarthritis of the hip joint.

The anteroposterior axis of the tibia is adjusted to approximately a right angle to the anterior pelvic plane in the standing position in patients with hip dysplasia similar to normal subjects: a cross-sectional study.

BACKGROUND: We previously described that the anteroposterior (AP) axis of the tibia is approximately perpendicular to the transverse axis of the anterior pelvic plane (APP) in the standing position in healthy subjects. The purpose of this study was to investigate the rotational alignment between the APP and clinical epicondylar axis and the AP axis of the tibia relative to pelvic coordination in the standing position in normal subjects and in women with developmental dysplasia of the hip (DDH) to aid decision making for surgeons in the alignment of implants in total hip or knee arthroplasty. METHODS: This study included 77 Japanese women. Twenty-nine in the DDH group underwent curved periacetabular osteotomy; 48 women without lumbago and knee pain were included in the normal group. Femoral neck anteversion (FNA), condylar twist angle, and knee rotation angle were measured in femoral coordination. The angle between the femoral neck axis and clinical epicondylar axis (CEA) was measured, the transverse axis of the APP was also measured, and the angle between the AP axis of the tibia and transverse axis of the APP was calculated. RESULTS: There was a moderate negative correlation between FNA and CEA relative to the APP. This finding indicated a trend towards greater FNA leading to more internal rotation. Knee rotation angle (KRA) relative to the APP was 1.65° ± 5.58° in the normal group and - 2.65° ± 7.57° in the DDH group. This finding indicated that the tibia AP axis was approximately perpendicular to the APP in the standing position both in the normal and DDH groups. CONCLUSION: We found that the tibia AP axis was at approximately a right angle to the transverse axis of the APP in the standing position in both the normal and DDH groups, while the KRA was different in the normal and DDH groups. These findings may prove helpful for positional alignment investigations needed for implantation in total hip or knee arthroplasty and gait analysis.

Tubulointerstitial nephritis and Fanconi syndrome in a patient with primary Sjögren's syndrome accompanied by antimitochondrial antibodies: A case report and review of the literature.

We describe a 53-year-old woman with primary Sjögren's syndrome and tubulointerstitial nephritis showing distal renal tubular acidosis and Fanconi syndrome. The patient showed high serum IgM levels and positivity for antimitochondrial antibodies, although her liver function was in normal range. According to our literature review, 75% of patients with tubulointerstitial nephritis who were positive for antimitochondrial antibodies showed Fanconi syndrome, suggesting that these antibodies may directly be associated with the pathophysiology of Fanconi syndrome.

The anteroposterior axis of the tibia is approximately perpendicular to the anterior pelvic plane in the standing position in healthy Japanese subjects.

BACKGROUND: We previously reported that the clinical epicondylar axis (CEA) was approximately parallel to the transverse axis of the anterior pelvic plane (APP) in the standing position in normal subjects. The purpose of this study was to investigate the rotational alignment between APP in the standing position and the anteroposterior (AP) axis of the tibia relative to pelvic coordination in normal subjects. METHODS: This study included 68 healthy Japanese, 24 males and 44 females, without lumbago and knee pain. Femoral neck anteversion (FNA), condylar twist angle, and knee rotation angle were measured in femoral coordination. The angle between the femoral neck axis and CEA transverse axis of APP was also measured, and the angle between the AP axis of the tibia and the transverse axis of APP was calculated. The mean value of knee rotation angle was 0.23° and 2.06° in male and female subjects, respectively. RESULTS: There was a moderate positive correlation between FNA and the femoral axis angle relative to the transverse axis of APP. The knee rotation angle relative to APP was 0.33° and 1.56° in male and female subjects, respectively, and the tibia AP axis was approximately perpendicular to the transverse axis of APP in the standing position. Regarding validation, we obtained high interclass correlation coefficients for both intraobserver and interobserver reliability. CONCLUSION: We found that the knee rotation angle was almost 0° and that the tibia AP axis was approximately perpendicular to the CEA. The tibia AP axis was also approximately perpendicular to the transverse axis of the APP in standing position.

Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease.

BACKGROUND: HLA-DRB1 alleles are major determinants of genetic predisposition to rheumatic diseases. We assessed whether DRB1 alleles are associated with susceptibility to particular clinical features of adult onset Still's disease (AOSD) in a Japanese population by determining the DRB1 allele distributions. METHODS: DRB1 genotyping of 96 patients with AOSD and 1,026 healthy controls was performed. Genomic DNA samples from the AOSD patients were also genotyped for MEFV exons 1, 2, 3, and 10 by direct sequencing. RESULTS: In Japanese patients with AOSD, we observed a predisposing association of DRB1*15:01 (p = 8.60 × 10-6, corrected p (Pc) = 0.0002, odds ratio (OR) = 3.04, 95% confidence interval (95% CI) = 1.91-4.84) and DR5 serological group (p = 0.0006, OR = 2.39, 95% CI = 1.49-3.83) and a protective association of DRB1*09:01 (p = 0.0004, Pc = 0.0110, OR = 0.34, 95% CI = 0.18-0.66) with AOSD, and amino acid residues 86 and 98 of the DRß chain were protectively associated with AOSD. MEFV variants were identified in 49 patients with AOSD (56.3%). The predisposing effect of DR5 was confirmed only in patients with AOSD who had MEFV variants and not in those without MEFV variants. Additionally, DR5 in patients with AOSD are associated with macrophage activation syndrome (MAS) and steroid pulse therapy. CONCLUSION: The DRB1*15:01 and DR5 are both associated with AOSD susceptibility in Japanese subjects. A protective association between the DRB1*09:01 allele and AOSD was also observed in these patients. Our data also highlight the effects of DRB1 alleles in susceptibility to AOSD.

Manual calf massage and passive ankle motion reduce the incidence of deep vein thromboembolism after total hip arthroplasty.

BACKGROUND: Venous thromboembolism is one of the general complications following total hip arthroplasty, wherein various preventive treatments have been recommended. Several studies reported that venous thromboembolism incidence after total hip arthroplasty was similar in patients who were administered prophylaxis with a conventional mechanical procedure alone, and those who were administered pharmacological anticoagulation therapy. Therefore, the optimum methods of prophylaxis are still controversial. The purpose of this study was to investigate whether manual calf massage and passive ankle motion could lower the risk for venous thromboembolism after total hip arthroplasty. METHODS: We retrospectively reviewed the data of 126 consecutive patients undergoing elective primary unilateral total hip arthroplasty wherein manual calf massage and passive ankle motion were performed after the surgery at our hospitals between January and October 2014. The 138 patients of the control group underwent total hip arthroplasty using the same surgical approach and pre- and postoperative protocols without this mechanical prophylaxis between January and December 2013. This mechanical prophylaxis was performed simultaneously 30 times during approximately 10 s; these procedures were repeated thrice immediately after total hip arthroplasty. Duplex ultrasonography was performed to observe the veins of both legs in all the patients on postoperative day 7. RESULTS: The incidence of deep vein thrombosis was 6.52% and 0.79% in the control and manual calf massage and passive ankle motion groups, respectively. The odds ratio for the manual calf massage and passive ankle motion groups was 8.72. Performing this mechanical prophylaxis reduced the incidence of venous thromboembolism after total hip arthroplasty. This mechanical prophylaxis is not only simple and easy, but is also safe and inexpensive. CONCLUSIONS: We therefore recommend that manual calf massage and passive ankle motion be performed in patients who will undergo total hip arthroplasty, if deep vein thrombosis does not exist before the surgery.

Usefulness of a novel method for the screening of deep vein thrombosis by using a combined D-dimer- and age-based index before total hip arthroplasty.

Plasma D-dimer level is clinically useful for diagnosing patients with suspected deep vein thrombosis (DVT). However, the cut-off value for the D-dimer level remains controversial and undetermined with regard to total hip arthroplasty (THA). The objective of this study was to estimate the efficacy of an age- and D-dimer-based index for diagnosing DVTs in asymptomatic cases before THA. We enrolled 224 patients with no symptoms associated with DVT before THA. All the patients underwent ultrasonography, and the plasma D-dimer level was recorded about 1 month preoperatively. The optimal cut-off value was calculated using multiple logistic regression and receiver operating curve analyses. DVTs were detected in 13 patients (5.8%) using ultrasonography. Multiple logistic regression analysis demonstrated that age (odds ratio [OR]: 1.13; p = 0.007) and D-dimer value (OR: 1.74; p = 0.003) were related to the existence of preoperative DVT. A DVT index (0.12 × age + 0.45 × the D-dimer value) of 8.15 was the most reasonable cut-off value according to the receiver operating curve analysis. This value caused 100% sensitivity and 70.1% specificity, with an area under the curve (AUC) of 0.905 (range, 0.836-0.975). For age and D-dimer value, the AUCs were 0.828 (0.749-0.907) and 0.716 (0.522-0.910), respectively. This study demonstrated that age and D-dimer index can be useful in screening patients for DVTs before THA. This DVT index is also easy to calculate and may be clinically significant.

Three-dimensional Assessment of Femoral Head Coverage in Normal and Dysplastic Hips: A Novel Method.

The acetabular coverage of the femoral head has been assessed in two-dimensions as the projected covered area or the covered angle on plain radiographs. We present a novel method of the three-dimensional assessment of femoral head coverage obtained by evaluating the covered volume of the femoral head in both normal and dysplastic hips. We also assessed the covered angles on the vertical slices passing through the center of the femoral head. The mean covered volume of the femoral head was 57.4% in normal hips and 26.6% in dysplastic hips. In dysplastic hips, the L-CE, A-CE, and P-CE angles were 7.7°, 21.8°, and 95.8°, respectively, while the acetabular angle was 27.5°. In normal hips, the CE angles were 34.0°, 56.8°, and 109.4°, respectively, while the acetabular angle was 7.2°. Our study suggests the usefulness of a novel 3D assessment for acetabular coverage of the femoral head. This assessment provided the precise 3D information necessary to diagnose hip dysplasia and assess the deficiency of acetabular coverage in these patients. Moreover, we may detect a cut-off between normal and dysplastic hips in the 3D assessment by assessing a large number of dysplastic hips both morphologically and using the new assessment.

A case of antiglomerular basement membrane glomerulonephritis complicated by membranous nephropathy.

The sequential or simultaneous presentation of anti-glomerular basement membrane (anti-GBM) glomerulonephritis with membranous nephropathy (MN) has been infrequently reported. Although the mechanism underlying MN superimposed on anti-GBM glomerulonephritis is unknown, the two entities are believed to be interrelated. We report the case of a 75-year-old woman diagnosed with rapidly progressive glomerulonephritis. Renal biopsy revealed crescentic glomerulonephritis with linear and granular staining of immunofluorescent IgG1 and IgG4 granular staining on the capillary loops. Electron microscopy revealed extensive subepithelial deposits. These findings suggested simultaneous development of anti-GBM glomerulonephritis and MN in this case. Serum phospholipase A2 receptor (PLA2R) antibody was negative. The patient was treated with prednisolone and plasma exchange, resulting in resolution of renal insufficiency and a decrease in urinary protein. The rapid decrease in urinary protein and absence of PLA2R antibody suggest that the mechanism of MN associated with anti-GBM glomerulonephritis differs from that of primary MN.

A case of podocytic infolding glomerulopathy with focal segmental glomerulosclerosis.

Podocytic infolding glomerulopathy (PIG) has been proposed as a new disease entity. A 14-year-old girl underwent renal biopsy at our institution because of a chance finding of proteinuria. Light microscopic findings revealed a minor glomerular abnormality, but under a higher magnification, after periodic acid methenamine silver staining, a bubbling appearance in the glomerular basement membrane (GBM) was observed. An electron microscopic examination revealed microspheres in the GBM, which were sparse but global. The patient was diagnosed as having PIG. After 3 years, her urinary protein had increased and a second biopsy was performed, showing focal segmental glomerulosclerosis in addition to a lesser degree of podocytic infolding than at the first biopsy. This is the first report of a case complicated by a different type of glomerulonephritis after being diagnosed as PIG. A few cases of PIG are complicated by focal segmental glomerulosclerosis, suggesting several mechanisms for the disorder.

A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy.

Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disorder that is characterized by hyperuricemia and chronic renal failure and results in end-stage renal failure. FJHN is caused by mutations in the UMOD gene, which encodes uromodulin. Uromodulin contains three epidermal growth factor (EGF)-like domains, a domain of eight cysteine residues (D8C), and a zona pellucid-like domain. Over 90 % of UMOD mutations are missense mutations, and over 80 % exist in exon 4, which encodes both D8C and the EGF-like domains. A 56-year-old woman was diagnosed with hyperuricemia with a serum uric acid level of 7.5 mg/dL, and stage III chronic kidney disease (CKD) with a serum creatinine level of 1.12 mg/dL and an estimated glomerular filtration rate of 39.9 mL/(min 1.73 m2). The patient had a family history of hyperuricemia and stage IV CKD; both the patient and her affected family members had a novel mutation in the UMOD gene: c.C518G (p.P173R), located between the EGF-like domains and D8C. This mutation, along with previously reported nearby mutations, causes a clinically mild phenotype of FJHN. It is important that physicians consider the diagnosis of FJHN in patients with a family history of hyperuricemia associated with renal dysfunction, even if the patient has only mild renal impairment.

A case of aseptic abscesses syndrome treated with corticosteroids and TNF-alpha blockade.

Aseptic abscesses syndrome (AA) is an emerging clinicopathological entity characterized by visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids. Although most previous case reports of AA have been restricted to Europe, we present here a Japanese woman with AA showing recurrence of splenic abscesses, ileocolitis, pyoderma gangrenosum, and arthritis. Although both steroid therapy and tumor necrosis factor (TNF)-alpha blockade were effective, relapses remained frequent.