Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by lipoatrophy affecting the face, limbs and trunk, acromegaloid features, hepatomegaly, hypertriglyceridemia, and insulin resistance. The aim of this study is to evaluate the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with CGL1 and CGL4, caused by mutations in the AGPAT2 and CAVIN1 genes, respectively. Two patients aged 2 and 9 years with the same biallelic CAVIN1 mutation and five patients aged between 6 months and 11 years 4 months with AGPAT2 mutations have been followed up for 3-9 years. The patients were between 7 and 20 years of age at their last examination. One of the two patients with CGL4 had congenital pyloric stenosis. The other patient with CGL4 have developed recurrent duodenal perforations which have not been reported in CGL patients previously. The pathological examination of duodenal specimens revealed increased subserosal fibrous tissue and absent submucosal adipose tissue. None of the five CGL1 patients had gastrointestinal problems. Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. Hyperinsulinemia was detected in one patient with CGL4 and three patients with CGL1, these three CGL1 patients also had acanthosis nigricans. Hepatic steatosis was detected in one patient with CGL4 and two patients with CGL1 by ultrasonography. In conclusion, these findings suggest that CGL4 patients should also be carefully followed up for gastrointestinal and cardiac manifestations.

Effects of Ankaferd BloodStopper on dermal healing in diabetic rats.

BACKGROUND/AIM: Diabetes mellitus inhibits wound-induced angiogenesis, impairs the wound healing process, and leads to the development of chronic wounds. Ankaferd BloodStopper (ABS) is a new and promising local haemostatic agent. Although the mechanism of ABS-mediated haemostasis is well established, little is known about the associated histological and biochemical tissue reactions. The aim of this study was to evaluate the effects of this new-generation local haemostatic agent on short-term soft-tissue healing in streptozotocin (STZ)-treated rats. MATERIALS AND METHODS: The 24 Wistar albino rats used in this study were divided into STZ-treated (STZ, n = 12) and nontreated groups (control, n = 12). Four days prior to surgery, rats in the STZ group were subcutaneously administered 60 mg/kg STZ intraperitoneally, while rats in the control group were administered 1 mL saline/kg. An incision was made in the dorsal dermal tissue of all rats, and either ABS or no haemostatic agent (NHAA) was applied to the wound before suturing. All of the rats were euthanised on postoperative day 4. Blood and skin samples were evaluated biochemically and histologically. RESULTS: The results showed that STZ treatment impaired soft-tissue healing, assessed by measuring glutathione and lipid peroxidation levels. Moreover, while good histological results were obtained in the control group treated with ABS, there were fewer benefits in the STZ-treated group. CONCLUSION: ABS's benefits in the control group seemed to lose their effectiveness under STZ medication.

Primary Psammomatous Melanotic Schwannoma of the Spine.

Schwannoma is an easily identifiable and frequently diagnosed lesion of the spinal column. However, if the schwannoma contains a melanin component, the diagnosis is challenging. Our purpose in this case report is to discuss the imaging and histopathologic findings of a rarely seen psammomatous type of melanotic schwannoma diagnosed in a 31-year-old woman.

Primary pericardial synovial sarcoma in an adolescent patient: magnetic resonance and diffusion-weighted imaging features.

Primary synovial sarcomas of the pericardium are extremely rare tumors, especially in pediatric population. As far as we know, only few cases have been reported in the literature. This uncommon location for synovial sarcomas could lead to misdiagnosis. Radiologists and clinicians should be aware of the imaging findings and differential diagnosis of pericardial synovial sarcoma. Herein we presented a 15-year-old boy who had primary pericardial synovial sarcoma with imaging features.

Histopathologic changes in the middle ear mucosa after exposure to pepsin and unconjugated bile acid.

OBJECTIVE: An increasing number of studies indicate that pepsin and bile acid cause damage to the ear, nose, and throat structures as a result of extraesophageal reflux. The aim of this study was to evaluate and compare the damaging effect of bile acids and pepsin on the middle ear mucosa. MATERIAL AND METHODS: Twenty-nine healthy rats were included in this study. The animals were divided into 5 groups. A single daily dose of 40 µmol/L chenodeoxycholic acid, 40 µg/mL pepsin, and saline were injected separately into the right middle ear of the rats. On day 30, all rats were decapitated, and formalin-fixed, paraffin-embedded samples of the middle ear both from the control and experimental rats were prepared. A semiquantitative analysis was performed. RESULTS: Inflammatory response was seen in all middle ear mucosa of rats except control group 1. The degree of inflammatory response was higher in the bile acid group when compared with the other groups. Epithelial metaplastic changes with varying number of goblet cells were observed in both the bile acid- and pepsin-injected groups. These metaplastic changes were also higher in the bile acid-induced group than in the pepsin-injected group. CONCLUSIONS: This is the first study on the middle ear mucosal damage of both pepsin and bile acid. Our results demonstrate that bile acids were associated with more extensive mucosal injury at pH 7 in comparison to pepsin in a rat animal model. Inflammatory response and metaplastic changes may play an important role in the etiology of middle ear pathologies.

Effect of extracorporeal shock wave therapy on fracture healing in rat femural fractures with intact and excised periosteum.

OBJECTIVES: The aim of this study is to compare the effect of extracorporeal shock wave therapy (ESWT) on fractures with intact periosteum and excised periosteum. MATERIALS AND METHODS: Thirty-seven Wistar albino rats were randomized into four groups. Osteotomy and intramedullary Kirschner wire fixation were performed on all right femurs under ketamin anesthesia. The first group (n=10) was identified as control group. In the second group (n=10), periosteum located at the osteotomy site was excised circumferentially during surgery. In the third group (n=9), periosteum was left intact and ESWT was applied. In the forth group (n=8), periosteums of all rats were excised and ESWT was applied. All fracture lines were evaluated radiographically each two weeks and histologically at the sixth week. Results were evaluated statistically. RESULTS: In periosteum excised group which represents a model of open fractures with soft tissue defect, ESWT application had a significantly positive histologic effect on bone healing. However, radiological evaluation did not reveal any statistically significant difference between groups with intact and excised periosteums. CONCLUSION: According to our findings, ESWT can be used to improve fracture healing and prevent pseudoarthrosis in the treatment of open fractures with accompanying soft tissue and periosteum damage. However, further clinical studies are required to include ESWT in routine practice.

Reconstruction of the urethral defects with autologous fascial tube graft in a rabbit model.

AIM: To investigate the feasibility of the autologous fascia graft in urethra defect reconstruction. METHODS: In 24 adult male rabbits, a standardized defect (17 mm) was created within the midportion of each urethra. Two-cm long fascial tube grafts were interposed between the cut ends of the urethra. Twenty-four rabbits were divided into 12 groups. At 0, 3, 10, 15, 21, 30, 45, 60, 90, 120, 150, and 180 days postoperatively, one group was killed. In the first four groups, rabbits were killed and specimens were obtained for histological examination. After 21 postoperative days, in the subsequent eight groups, retrograde urethrograms were carried out to evaluate urethral patency and caliber, then rabbits were killed and specimens were obtained. RESULTS: In the histological study, advancement of the urethral transitional epithelium along scaffold provided by the fascial graft was determined. At the 30th day, the new urethra was completely covered with the transitional epithelium. Fistula formation was observed in two of 24 rabbits. In urethrograms, narrowing was determined in three of 16 rabbits. CONCLUSION: For segmental urethral reconstruction, fascial graft is a good urethral substitute because of its rapid epithelization capacity, low contraction degree and thinness. We therefore propose the use of fascial grafts for reconstruction of male-urethra defects in humans.

Prostaglandin E1 maintains structural integrity of intestinal mucosa and prevents bacterial translocation during experimental obstructive jaundice.

The absence of bile in the gut lumen induces mucosal injury and promotes bacterial translocation (BT). Prostaglandin E (PGE) has a protective effect on the mucosal layer of the alimentary tract. We hypothesize that PGE1 may prevent BT by its beneficial action on the mucosa of the small bowel. Thirty Wistar albino rats were divided equally into 3 groups; Group 1 (control) underwent sham laparotomy, group 2 obstructive jaundice (OJ) and group 3 (OJ + PGE1) underwent common bile duct (CBD) ligation and transection. Groups 1 and 2 received; 1 mL normal saline and group 3 received 40 mg of the PGE1 analogue misoprostol dissolved in 1 mL normal saline administered by orogastric tube once daily. After 7 days, laparotomy and collection of samples for laboratory analyses were performed, including bacteriological analysis of intestine, mesenteric lymph nodes (MLNs), and blood, and histopathologic examination of intestinal mucosa to determine mucosal thickness and structural damage. Serum bilirubin and alkaline phosphatase levels confirmed OJ in all animals with CBD transection. The mucosal damage score was significantly reduced in jaundiced animals receiving PGE1 compared to jaundiced controls (2.15 +/- 0.74 vs 5.3 +/- 0.59; p < .00001) and mucosal thickness was greater (607 +/- 59.1 microm vs. 393 +/- 40.3 microm; p < .00001). The incidence of BT to MLNs decreased from 90% to 30% (p < .02) when jaundiced rats received PGE1. PGE1 treatment reduced the detection rate of viable enteric bacteria in the blood from 60% to 10% (p < .057). We conclude that administration of PGE1 provides protection against OJ-induced atrophy and damage of intestinal mucosa, and thereby prevents translocation of enteric bacteria to underlying tissues.

Subungual osteochondroma: a diagnostic dilemma.

Osteochondroma is the most common skeletal neoplasm of all benign bone tumors. However, it rarely occurs subungually. In this location, the lesion may penetrate the skin, causing nail deformity, and can easily be misdiagnosed. We report two cases of subungual osteochondroma of the distal phalanges of the first toes with cutaneous penetration and discuss the clinical, histologic, and radiographic features and the treatment options.

Effect of clomiphene citrate on ovarian, endometrial, and cervical histologies in a rat model.

OBJECTIVE: To examine the effect of clomiphene citrate (CC) on the ovarian, endometrial, and cervical histologies in a rat model. METHODS: The rats (n = 40) were randomly assigned to 4 treatment groups: CC 50 (repetitive doses of 0.2 mg CC); CC 100 (repetitive doses of 0.4 mg CC); CC 200 (repetitive doses of 0.8 mg CC), and control (repetitive doses of normal saline). Each study group received its CC dose intraperitoneally in 2 ml saline for 5 days and the controls received 2 ml saline only. Each treatment cycle was repeated six times. Six months later the rats were euthanized. Their ovaries, uterine horns, and cervices were removed and examined for histologic changes. RESULTS: We found no significant difference in the number of follicles and corpora lutea of the study groups (p > 0.05). The numbers of granulosa, theca, and luteal cells of the CC 100 and CC 200 groups were significantly higher than those of the CC 50 group and controls (p < 0.05). There was no important finding related to pre-malign and malign changes in ovarian, endometrial and cervical samples of the control and CC 50 groups. Focal atypia and atypical mitoses were noted in 2 cases of granulosa cells in the CC 100 and CC 200 groups. CONCLUSION: We did not find an association between the use of CC and ovarian, endometrial, and cervical neoplasms; nevertheless, we noticed an increase in granulosa, theca and luteal cells with high doses of CC, which may be a risk factor for granulosa, theca, and luteal cell tumors.

Aprotinin ameliorates ischemia/reperfusion injury in a rat hind limb model.

The aim of the study was to investigate the protective effect of aprotinin in a rat hind limb ischemia/reperfusion (I/R) model. A well-known antioxidant, alpha-tocopherol, was also tested for comparison. Ischemia was induced for 4 h by vascular clamping of the iliac arteries of 24 Sprague-Dawley rats, followed by 1 h of reperfusion. Muscle injury was evaluated in three groups: a saline group, an alpha-tocopherol group and an aprotinin group. Blood pH, pO2, pCO2, HCO3, creatine kinase (CPK), lactate dehyrogenase (LDH) and thiobarbituric acid reactive substances (TBARS) as well as muscle TBARS were measured at the end of the reperfusion. Muscle tissue samples were taken for histological examination. alpha-Tocopherol and aprotinin groups showed a significant amelioration of plasma CPK (p=0.002, p=0.002), LDH (p=0.004, p=0.004) and muscle tissue TBARS (p=0.001, p=0.001) compared with the control. Plasma TBARS were significantly lower in the aprotinin group compared with the control (p=0.017). Also, tissue TBARS was significantly lower in the aprotinin group than the alpha-tocopherol group (p<0.001). Neutrophil infiltration was less prominent in the alpha-tocopherol and aprotinin groups compared to the control (p=0.006, p=0.001). These results suggest that aprotinin, a potent anti-inflammatory drug, is more useful than alpha-tocopherol, a powerful antioxidant, for attenuating muscle injury after I/R.

[A painful subungual nodule: subungual exostosis]. / Agrili subungual bir nodül: Subungual ekzostoz.

Subungual exostosis is an acquired, benign, often painful, and nearly always solitary bone tumor usually occurring in the dorsal medial aspect of the phalanges. An eighteen-year-old male patient presented with a progressively enlarging mass and pain that developed over two years in the distal medial aspect of the right first toe. Conventional radiographs, computed tomography, and histopathologic findings showed subungual exostosis. Complete removal of the tumor was performed including its base in the cortex of the phalanx. No recurrence was observed during a follow-up of 11 months. It was emphasized that clinical presentation of subungual exostosis may resemble other benign or malignant bone tumors.

Protective effects of chronic melatonin treatment against renal injury in streptozotocin-induced diabetic rats.

The aim of this study was to investigate the effects of melatonin as an antioxidant, on prevention and treatment of streptozotocin (STZ)-induced diabetic renal injury in rats. Male Wistar rats were divided into four groups: (1) untreated, (2) melatonin-treated, (3) untreated diabetic (UD), (4) melatonin-treated diabetic (MD). Experimental diabetes was induced by single dose (60 mg/kg, i.p.) STZ injection. For 3 days prior to administration of STZ, melatonin was injected (200 microg/kg/day, i.p.); these injections were continued until the end of the study (4 weeks). Malondialdehyde (MDA) levels as a marker of lipid peroxidation were significantly increased in the renal homogenates of UD animals and decreased after melatonin administration. The activity of the antioxidative enzyme glutathione peroxidase (GSH-Px) was significantly reduced in UD rats. Melatonin treatment reversed STZ-induced reduction of GSH-Px activity without having an effect on blood glucose. Upon histopathological examination, it was observed that the melatonin treatment prevented the renal morphological damage caused by diabetes. Upon immunohistochemical investigation, glomerular anti-laminin beta1 staining decreased in MD rats. Additionally, no tubular anti-IGF-1 staining was observed in melatonin-treated rats. In conclusion, chronically administered melatonin reduced renal injury in STZ-induced diabetic rats and thus it may provide a useful therapeutic option in humans to reduce oxidative stress and the associated renal injury in patients with diabetes mellitus.

Attenuation of ischemia/reperfusion injury by N-acetylcysteine in a rat hind limb model.

BACKGROUND: Ischemia/reperfusion is a complex set of events with severe pathologic consequences. Reperfusion initiates both the local and systemic damage in part through rapid oxygen generation. N-acetylcysteine (NAC) is a scavenger of free radical species, inhibits neutrophil accumulation, acts as a vasodilator and also improves microcirculation. In present study, we examined the protective effect of NAC in a rat hind limb ischemia/ reperfusion model. Dimethyl-sulfoxide (DMSO), a well-known antioxidant was also tested for comparison. MATERIALS AND METHODS: Ischemia was induced for 4 h by vascular clamping and followed by 1 h of reperfusion. Muscle injury was evaluated in 3 groups as a saline group (control), DMSO group, and NAC group. Plasma levels of creatine kinase, lactate dehydrogenase, thiobarbituric acid reactive substances (TBARS), and blood HCO(3), as well as muscle tissue TBARS, were measured at the end of reperfusion. Muscle tissue samples were taken for histological evaluation. RESULTS: DMSO and NAC group showed significant amelioration of plasma CPK (P < 0.05, P < 0.05), plasma TBARS (P < 0.05, P < 0.05), and muscle tissue TBARS (P < 0.05, P < 0.05) compared with the control group. Similarly, neutrophil infiltration in DMSO and NAC groups were significantly less prominent than the control group (P < 0.01, P < 0.01). CONCLUSIONS: These results show that NAC improved effectively ischemia reperfusion injury in a rat hind limb model.

Atypical meningioma and extensive calvarium defects in neurofibromatosis type 1.

A 9-year-old girl with neurofibromatosis type 1 (NF1) presented with a massive atypical meningioma and calvarial defect. Skull radiographs and cranial CT showed an extensive lytic bone lesion at the vertex. MRI demonstrated a large mass invading the calvarium and sagittal sinus. The histopathological and immunohistochemical diagnosis of the resected mass was atypical meningioma. To our knowledge, this is the first case of NF1 associated with atypical meningioma and massive calvarial defect in a child.