Spheroidal Degeneration in Two Siblings: Clinical and Histopathological Features

Spheroidal corneal degeneration is predominantly seen in advanced age and hereditary predisposition to this disorder is very rare. This report describes the occurrence of bilateral band-shaped spheroidal corneal degeneration in two siblings.

Effect of Platelet-Derived Concentrated Growth Factor on Single-Layer, Multi-Layer, and Crushed Onlay Cartilage Grafts.

BACKGROUND: The main concern with utilizing cartilage grafts to achieve structural integrity and volume restoration is the loss of volume over time and their unpredictable viability. Preservation of the volume of cartilage grafts is necessary to ensure their long-term success. OBJECTIVES: The main aim of this study was to investigate the effect of concentrated growth factor (CGF) sheet on single-layer, multi-layer, and crushed block cartilage grafts. METHODS: Cartilage grafts obtained from the ears of rabbits were prepared in 3 different forms: single-layer, triple-layer, and crushed. After measuring the weight and thickness of the cartilage grafts, the grafts in the experimental group were wrapped with the prepared autologous CGF. These cartilage grafts were placed in subcutaneous pouches created on the backs of the rabbits. After 4 months, the rabbits were killed. The weight and thickness of the cartilage grafts were measured and the cartilage viability and peripheral changes were examined microscopically. RESULTS: The percentage changes in the weights and thicknesses of the single-layer, multi-layer, and crushed cartilage grafts wrapped with CGF were found to be statistically significantly lower than in the control group. When the cartilage viability and changes in peripheral tissue were evaluated, CGF-wrapped cartilage groups did not achieve statistically significantly better scores than the untreated control groups. CONCLUSIONS: In cases planned to receive a block cartilage graft, especially if graft resorption is not desired or should be minimized, wrapping the graft with autologous CGF is a feasible option.

The Effect of Astaxanthin on Random Pattern Skin Flaps.

BACKGROUND: Skin flaps are the first-line treatment modality for skin defect reconstruction. With the increased importance and use of flap surgery, a growing number of studies have investigated the ways for the prevention of ischemia-reperfusion injury. The aim of this study was to investigate the effect of astaxanthin, which is an antioxidant molecule from the xanthophyll family, on the survival of random pattern skin flaps. METHODS: Thirty-two Sprague-Dawley rats with a caudally based random pattern skin flap (3 × 9 cm) were divided into 4 groups: group A (astaxanthin orally 1 mg/kg per day), group B (astaxanthin orally 4 mg/kg per day), group C (astaxanthin orally 16 mg/kg per day), and the control group. On postoperative day 7, the flaps were evaluated by photographic, scintigraphic, and histological methods. Photographs were taken to investigate the total flap, necrotic flap, and surviving flap areas. A scintigraphic evaluation was undertaken to analyze the surviving area. The flaps were evaluated histopathologically for vascularization, acute inflammation, and chronic inflammation. RESULTS: The rate of surviving flap areas was observed to increase in parallel to the increase in the astaxanthin dose. Surviving flap areas and flap perfusion values were higher in group C compared with the control group and group A (P < 0.05). The values were also significantly higher in group B compared with control group (P < 0.05). All study groups were shown to have statistically significantly higher vascular density than the control group (P < 0.05), whereas lymphocyte and neutrophil densities were similar among all groups (P > 0.05). The photographic and scintigraphic evaluations for the viable area percentages of the flaps correlated with each other (rs = 0.913, P < 0.001). CONCLUSIONS: Orally administered astaxanthin, if given at doses higher than 4 mg/kg, increases flap viability rates and vascularization and can be used as an adjunctive agent.

Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.

Hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma (HLRCC)/fumarate hydratase deficient renal cell carcinoma (FHRCC) is defined by molecular genetic changes (mutation/LOH in fumarate hydratase (FH) gene). We investigated chromosomal numerical aberration pattern (CNV) in FHRCC/HLRCC using array comparative genomic hybridization analysis and low pass whole genome sequencing. Genetic analysis was successfully completed in 12 tumors. Most common chromosomal aberrations detected were a complete or partial loss of chromosome 4 (5/12 cases), chromosome 15 (4/12 cases), and chromosomes 9, 13, and 14 (each in 3/12 cases), as well as a complete or partial gain of chromosome 17 (in 4/12 cases). No chromosomal losses or gains were detected in 4 cases. Copy number variation pattern in FHRCC/HLRCC appears to be highly variable and does not provide a useful diagnostic tool in identifying these cases. Immunohistochemical staining and especially molecular genetic evaluation of FH gene mutations/LOH remain the gold standard in identifying FHRCC/HLRCC.

Low-grade spindle cell proliferation in clear cell renal cell carcinoma is unlikely to be an initial step in sarcomatoid differentiation.

AIMS: Spindle cell proliferation within clear cell renal cell carcinoma (ccRCC) is usually considered as a sarcomatoid differentiation. Low-grade spindle cell proliferation (LG-SCP) in ccRCC was first described in 2001. This phenomenon is not common and can pose diagnostic challenges, particularly in core biopsies. The aim of this study was to describe morphological, immunohistochemical and molecular characteristics of ccRCCs with LG-SCP. METHODS AND RESULTS: Eleven cases of ccRCC with LG-SCP were retrieved from approximately 21 000 renal tumours in our registry. Ten cases of conventional ccRCC and 10 cases of typical sarcomatoid ccRCC were included as control groups. Morphological and immunohistochemical characteristics of epithelial-mesenchymal transition (EMT) were analysed. Von Hippel-Lindau syndrome gene abnormalities were also analysed using molecular genetics. Among ccRCC with LG-SCP cases, there were five males and five females (clinical information was not available in one case) with a median age of 67 years (mean: 68.5, range: 60-81 years). Average tumour size was 7.1 cm (median:7.5, range:1.7-12 cm). Follow-up data were available in nine cases (mean: 44.78 months), with no aggressive behaviour seen. On average, LG-SCP areas constituted 5-80% of tumour volume (mean: 32.3%). Necrotic/regressed areas were seen in all cases ranging from 5% to 30%. LG-SCP was clearly epithelial, with no mitoses or any evidence of mesenchymal differentiation. Immunohistochemical profile of LG-SCP was consistent with 'conventional' ccRCC. Compared with sarcomatoid ccRCC, some EMT markers showed alteration in LG-SCP, including lower expression of N-cadherin and Zeb1 as well as higher expression of E-cadherin. However, there were no significant differences in EMT markers between LG-SCP and conventional ccRCC. Abnormalities in VHL (mutations, LOH3p) were found in six of 11 cases. CONCLUSIONS: Our findings showed that LG-SCP in ccRCC have comparable immunohistochemical and molecular characteristics to those seen in 'conventional' ccRCC. Further, immunohistochemical analysis of EMT markers showed that LG-SCP did not differ from 'conventional' ccRCC. We believe that LG-SCP is a part of morphological heterogeneity in ccRCCs and that they may not represent an initial stage of sarcomatoid differentiation. This is supported further by the fact that ccRCC with LG-SCP did not display more aggressive behaviour than 'conventional' ccRCC.