Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome

We describe a 10-month-old boy with 22q13 deletion syndrome. Chromosomal analysis showed a partial duplication of 22p11.2-pter and a terminal deletion of 22q13.31-qter. Maternal chromosomal analysis showed a pericentric inversion of chromosome 22, with breakpoints at p11.2 and q13.31 [inv(22)(p11.2q13.31)]. The deleted chromosome resulted from a recombinant chromosome inherited from his mother. This is a rare case of 22q13 deletion syndrome associated with parental pericentric inversion of chromosome 22.     

Clinical characteristics of urolithiasis with stone analysis conducted over a 26-year period

OBJECTIVE: Stone analysis is an important examination for treatment and prevention of recurrence in urolithiasis. A twenty-six years clinical study of patient with urinary stone formers performed stone analysis was conducted. MATERIALS AND METHODS: 1,108 stone formers (male 726, female 382) who performed stone analysis from 1977 to 2002 was conducted. Location of the stone, sex, age, treatment and stone analysis was examined in this study. Phase 1 is from 1977 to 1983 mainly performed open surgery, phase 2 is from 1984 to 1992 mainly performed endoscopic surgery, and phase 3 is from 1993 to 2002 mainly performed extracorporeal shock wave lithotripsy (SWL). RESULTS: Analytic numbers per year increased, especially phase 3. In the treatment of upper urinary tract (UUT) stone, open surgery, endoscopic surgery and SWL was carried out 78.4%, 72.8% and 71.4% of all cases in each phase. Many transurethral lithotripsy were performed for lower urinary tract (LUT) stone. The numbers of UUT and LUT stone were 1,007 and 101 cases. The frequency of LUT stone was higher than that found in a nationwide urolithiasis survey carried out in Japan in 1995. The male-female ratio of UUT stone was 2.35:1, 1.74:1 in phase 2 and 3. The frequency of female increased in phase 2 more than that in phase 3. The incidence of calcium oxalate stone was increased, calcium phosphate stone and infectious stone was significantly decreased in UUT and calcium containing stone in LUT was decreased. The average age for incidence of UUT stone rose in man step by step. The frequency in male was significantly higher than that in female under 50's, not significantly higher over 50's in calcium oxalate with calcium phosphate stone former (p = 0.009). CONCLUSION: In the present study, the clinical features were as follows : important urinary stone analysis, high frequency of LUT stone, high frequency in females, tendency to aging, high frequency of calcium containing stone in LUT, resolution of the difference in male and female over 50's in calcium oxalate with calcium phosphate stone former.     

Union versus nonunion after posterolateral lumbar fusion: a comparison of long-term surgical outcomes in patients with degenerative lumbar spondylolisthesis

It has been reported that in patients undergoing posterolateral lumbar fusion (PLF), the fusion status is not related to the short-term operative results. To determine whether the fusion status influences the long-term operative results of PLF, we retrospectively examined the surgical outcomes of uninstrumented PLF for a minimum of 8 years (average, 9.5 years), by comparing cases exhibiting union with those exhibiting nonunion. Uninstrumented PLF was performed for the treatment of lumbar canal stenosis (LCS) with degenerative spondylolisthesis. Since nine patients were lost to final follow-up, the study included 42 patients, and the follow-up rate was 82.4%. The mean age of the patients was 64.1 years (range 46–77 years). Eight patients exhibited fusion at the L3–4 level and 34 patients, at the L4–5 level. The fusion status was assessed using plain radiographs. The clinical outcomes were evaluated using the Japanese Orthopaedic Association (JOA) scores. Nonunion was noted in 26% (11/42) of the patients. There were no statistically significant differences between the groups exhibiting union and nonunion with respect to age, sex, preoperative JOA score, or preoperative lumbar instability. The union group achieved better operative results than the nonunion group at the 5-year and final follow-up (P = 0.006 and 0.008, respectively) although there was no significant difference in the percent recovery at 1 and 3-year follow-up (P = 0.515 and 0.506, respectively). A stepwise regression analysis revealed that the best combination of predictors for percent recovery at the time of final follow-up included the fusion status and the presence of comorbid disease. The results indicate that the fusion status following PLF is a critical factor influencing the long-term but not short-term operative results in the treatment of LCS with degenerative spondylolisthesis.     

microRNA-7 down-regulation mediates excessive collagen expression in localized scleroderma

Localized scleroderma (LSc), a connective tissue disorder restricted to the skin and subcutaneous tissue, is characterized by skin fibrosis due to an excessive deposition of types I collagen. The mechanism of such fibrosis is still unknown, but epigenetics may play some roles in the excessive collagen expression. In the present study, we investigated the mechanism of fibrosis seen in LSc, focusing on microRNA (miRNA). miRNA expression was determined by PCR array, real-time PCR, and in situ hybridization. The function of miRNA was evaluated using specific inhibitor. Immunoblotting was performed to detect α2(I) collagen protein. PCR array analysis using tissue miRNA demonstrated miR-7 level was significantly decreased in LSc skin as well as keloid tissue compared to normal skin in vivo. In situ hybridization also showed miR-7 expression in dermal fibroblasts was decreased in LSc dermis. The transfection of specific inhibitor for miR-7 into cultured normal dermal fibroblasts resulted in the up-regulation of α2(I) collagen protein in vitro. Also, the serum levels of miR-7 were significantly decreased in LSc patients compared with healthy controls, but serum miR-29a levels not. Systemic or local down-regulation of miR-7 may contribute to the pathogenesis of LSc via the overexpression of α2(I) collagen, and serum miR-7 may be useful as a disease marker. Investigation of the regulatory mechanisms of LSc by miRNA may lead to new treatments by the transfection into the lesional skin of this disease.     

Immunolocalisation of E-cadherin and beta-catenin in human pterygium

AIM: The pterygium represents an invasion of a wing of altered ocular surface tissue into the normal cornea. The head itself is slightly elevated and white, which is the only site of firm adhesion to the globe. The mechanisms of cell proliferation and adhesion in pterygium epithelium, however, are unknown. The aim of this study was to analyse the expression of cell adhesion molecules in pterygium tissues. METHODS: Six pterygia were surgically removed using the bare-sclera procedure, and two normal corneas and a normal bulbar conjunctiva were also obtained. Formalin-fixed, paraffin-embedded tissues were analysed by immunohistochemistry with anti-E-cadherin and beta-catenin antibodies. RESULTS: Immunoreactivity for E-cadherin was not detected in the normal cornea and conjunctiva. In contrast, all corneal and conjunctival epithelial cells showed a weak homogeneous immunoreaction for beta-catenin on the cell membrane. In the pterygium head, the thickness was relatively marked compared with the body, and normal conjunctival and corneal epithelia. E-cadherin as well as beta-catenin was heterogeneously expressed in the cell membrane and cytoplasm of a variety of epithelial cells, whereas the expression was less marked in the body. Several epithelial cells showed intense nuclear immunoreactivity for beta-catenin. Immunoreactivity of beta-catenin, but not E-cadherin, was detected in only a few stromal cells, which were less marked than in epithelial cells. CONCLUSION: It is suggested that E-cadherin and beta-catenin are concentrated in pterygium tissue, and are possibly involved with epithelial proliferation and adhesion.     

Progression from Nonalcoholic Fatty Liver to Nonalcoholic Steatohepatitis Cirrhosis Confirmed by Liver Histology after 14 Years

A 44-year-old patient progressed from nonalcoholic fatty liver (NAFL) to nonalcoholic steatohepatitis (NASH) cirrhosis. She was diagnosed with NAFL via a liver biopsy. At 56 years old, she was diagnosed with NASH stage 3 via a second liver biopsy. One year later, she was diagnosed with NASH cirrhosis via a third liver biopsy. This is the first study to report the gradual deterioration of liver histology shown via three liver biopsies and fibrosis markers in a patient who progressed from NAFL to NASH cirrhosis. Following menopause, it is necessary to be aware of the rapid development of liver fibrosis.     

Repair of potentially lethal damage by total and quiescent cells in solid tumors following a neutron capture reaction

Purpose: We analyzed the time-course of changes in the sensitivity of total (proliferating + quiescent and quiescent (Q) cell populations within solid tumors in situ following a neutron capture reaction and compared it with that after γ-ray irradiation. Methods: After continuous labeling of proliferating cells with BrdU for 5 days, mice bearing SCC VII tumors received thermal neutron irradiation with or without a ¹⁰B-labeled compound (sodium [¹⁰B]borocaptate, BSH, or dl-p-[¹⁰B]boronophenylalanine, BPA), or γ-ray irradiation. From 5 min to 72 h after treatment, tumors were excised, minced, and trypsinized. Cell suspensions were incubated for 48 h with the cytokinesis blocker cytochalasin-B. The micronucleus frequency for BrdU-unlabeled cells, Q cells at treatment, was then determined by immunofluorescence staining for BrdU. The micronucleus frequency for total cells was obtained from tumors that had not been pretreated with BrdU labeling. The sensitivity was evaluated in terms of the frequency of induced micronuclei in binuclear tumor cells (micronucleus frequency). Results: Overall, Q cells showed greater repair capacities than total cells. γ-Ray irradiation and neutron irradiation with BPA induced larger repair capacities in each cell population. In contrast, thermal neutron irradiation without a ¹⁰B-labeled compound induced the smallest repair capacity in both cell populations. The use of a ¹⁰B-labeled compound, especially BPA, widened the difference in sensitivity between total and Q cells, resulted in an increase in repair capacity in both cell populations, and made the repair patterns of the two cell populations look like those induced by γ-ray irradiation. Conclusion: Differences in sensitivity and repair patterns following the neutron capture reaction were thought to depend on differences in the distribution of the ¹⁰B-labeled compound between the proliferating and Q cell populations. Received: 18 February 1999 / Accepted: 4 June 1999