Impact of apolipoprotein E genotypes on phenotypic expression in Turkish patients with Wilson's disease

Flow cytometric DNA studies were performed on cell suspensions of biopsy specimens from gastric tumors and neutral gastric mucosa in 18 patients with gastric cancer and 9 patients with gastric polyps. In cancer, aneuploidy was found in two tumors in the antral and five in the body part of the stomach (39%). The mean DNA index for aneuploid cancers was 1.57. In patients with aneuploid carcinomas three biopsy specimens from uninvolved mucosa also showed aneuploidy. In diploid carcinomas in the antral part of the stomach, the proliferative index (PI) was increased when compared with that of antral mucosa in controls (p < 0.05). Increased PI was found in uninvolved mucosa in aneuploid carcinomas of the body part of the stomach when compared with that in diploid carcinomas (p < 0.001). In uninvolved body mucosa in aneuploid carcinomas of the body part significantly reduced levels of acid-β-glucuronidase (p < 0.0001) were found when compared with diploid carcinomas. No polyps showed aneuploidy. and the PI in biopsy specimens from patients with gastric polyps did not differ from that in controls.     

Effects of intrathecal administration of FK506 after sciatic nerve crush injury

Although various administration routes of FK506 have been published, intrathecal administration of FK506 has not previously been reported in the literature. A daily dose of 0.05 mg/kg of FK506 was given (a small dose compared with those reported in the available literature). The authors used this small dose to obtain lower immunosuppression and neurotoxicity, and a higher axonal regeneration rate. A total number of 40 female Wistar rats were used and randomly divided into four groups: control, sham, FK506-treated, and vehicle-treated. Sciatic nerve regeneration was evaluated by walking track analysis, an electrostimulation test, and light microscopic evaluation. There was a statistically significant difference ( P < 0.05) between FK506-treated and vehicle-treated groups at the end of 6 weeks according to both the walking track analysis and the electrostimulation test. Comparing the stimulus thresholds of the sham and FK506-treated group, no significant difference ( P > 0.05) was observed. Evaluation of the data revealed that FK506 had a beneficial effect on sciatic nerve regeneration.     

Posterior sling (infracoccygeal sacropexy): an alternative procedure for vaginal vault prolapse

This study of 30 patients evaluated the effectiveness and safety of the posterior sling (infracoccygeal sacropexy) in the surgical treatment of vaginal vault prolapse. The patients were reevaluated 3 months, 6 months and yearly postoperatively. Coexisting preoperative symptoms of pelvic pain, urgency, nocturia and 'obstructed' micturition feeling were followed-up. There was remarkable improvement in vault prolapse and in coexisting symptoms.     

Secondary pulmonary alveolar proteinosis after unrelated cord blood hematopoietic cell transplantation

PAP is a rare alveolointerstitial lung disorder characterized histologically by the intra-alveolar accumulation of eosinophilic and PAS-positive material. We observed two cases of PAP after unrelated CB hematopoietic progenitor cell transplantation in children with ALL. No antagonist activity toward GM-CSF was identified in the patient tested. The putative multifactorial PAP etiology is discussed. This potentially curable condition should be considered in a CB allograft recipient with alveolointerstial lung disorder.     

What is the importance of radiology in obstructive sleep apnea?

Lipomas are rare, and they rarely arise in deep soft tissue. Only few cases associated with obstructive sleep apnea (OSA) have been reported. Because of radiologic examinations (computed tomography and magnetic resonance imaging) in a case with OSA, a rarely observed large lipoma was encountered in the retropharyngeal region. In the case that was followed, the apnea-hypopnea index was measured. The radiologic examination of the upper airway of the case with OSA symptoms was presented.     

A case of McCune-Albright syndrome associated with Gs alpha mutation in the bone tissue

The syndrome of McCune-Albright syndrome (MAS) is clasically defined as a triad presentation with the findings of polyostotic fibrous dysplasia, café-au-lait spots, and sexual precocity. However, not all patients present with complete symptoms. A 52-year-old man was diagnosed as having a variant of McCune-Albright syndrome with the following findings: polyostotic fibrous dysplasia, acromegaly due to pituitary tumor and subclinical hyperthyroidism due to toxic multinodular goiter. Sexual precocity and café-au-lait spots were not noted. Acromegaly was confirmed by laboratory examination (IGF-1, glucose suppression test and TRH stimulation test). Long acting somatostatin analogue was used as treatment. Although the pituitary tumor could not be removed due to technical problems, mass lesions on the cranium were removed subtotally. Histopathological evaluation demonstrated that the lesion complied with fibrous dysplasia. Genomic DNAs were isolated from the craniofacial bones and peripheral leucocytes of the patient. After amplifying the related regions, Gs alpha (Gs alpha) gene was analysed by automatic DNA sequence analysis. An activating mutation of the Gs alpha gene (Arg 201 Cys) was found in the genomic DNA isolated from the bone tissue of the patient, but not in the genomic DNA isolated from the blood. We described a case of MAS associated with Gs alpha mutation in the bone tissue, presenting with polyostotic fibrous dysplasia, subclinical hyperthyroidism and acromegaly.