A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens

PURPOSE: To describe a patient with retinitis punctata albescens (RPA) associated with compound heterozygosity for two novel mutations in the RLBP1 encoding cellular retinaldehyde-binding protein (CRALBP). DESIGN: Observational case report. METHODS: The proband underwent a complete ophthalmic examination and leukocyte genomic DNA samples were obtained from him and his parents. The RLBP1 exons were analyzed by direct sequencing of PCR-amplified fragments. RESULTS: The patient had a clinical phenotype suggestive of slowly progressive RPA, characterized by numerous yellow-white dots in the fundus. The RLBP1 sequence analysis revealed a novel compound heterozygotic mutation of Gly145Asp and Ile200Thr transmitted from the mother and father, respectively. Analysis of 100 control chromosomes showed no individuals with these sequence alterations. CONCLUSIONS: Only eight RLBP1 mutations have been reported to date, and here we describe two novel mutations. These additional mutations will aid ongoing functional studies and add to our understanding of the molecular pathology pertaining to RLBP1-associated retinopathies.     

Doxorubicin and paclitaxel enhance the antitumor efficacy of vaccines directed against HER 2/<Emphasis Type="Italic">neu</Emphasis>in a murine mammary carcinoma model

Introduction  

The purpose of the present study was to determine whether cytotoxic chemotherapeutic agents administered prior to immunotherapy with gene vaccines could augment the efficacy of the vaccines.     

Endocrine complications in patients with beta-thalassemia major

Thirty-seven patients with thalassemina major (TM) were studied to determine the extent and rate of endocrine complications. Mean haemoglobin and ferritin concentrations were 8.8 +/- 0.6 and 3,597 +/- 1,931, respectively. Provocation tests for growth hormone secretion were applied in patients with standing heights below the third centile and/or growth velocities below the 10th centile. Sexual maturation was assessed by using the criteria of Tanner. Glucose metabolism was assessed by fasting plasma glucose and glucose tolerance test. Basal thyroid function was measured and thyrotropin-releasing hormone tolerance test was carried out. Growth retardation was found in 40 per cent of patients and growth hormone deficiency was a prominent cause of growth retardation. Gonadal dysfunction was detected in 47 per cent of patients. Hypothyroidism was observed in 16 per cent and impaired glucose metabolism in 10.8 per cent patients. The high rate of endocrine disturbances indicates the importance of regular follow-up of thalassemia major patients with regard to endocrine complications of the disease.     

Aneurysmal bone cyst of the temporal bone

Aneurysmal bone cysts are benign fibrosseous lesions of the bone that are rarely detected in the temporal bone. Seventeen cases of aneurysmal bone cysts with histological confirmation involving the temporal bone were reported in the literature. We report a case of left temporal aneurysmal bone cyst in a 52-year-old male with the clinical findings of periauricular painful swelling, decreased hearing, and facial paralysis. A magnetic resonance image of the patient showed a well-circumscribed multi-loculated expansile lesion of the left temporal bone during the first admission to the hospital. The lesion recurred 1 year after the subtotal resection with a more solid appearance. In addition, we review the literature for these rare lesions.     

Acute renal failure following latrodectism

Latrodectism is considered dangerous for human beings. Acute renal failure after envenomation is not common and usually results from prerenal failure. We report a 59-y-o man with acute oliguric renal failure due to a combination of prerenal and renal causes after being bitten by a black Latrodectus spider. He had the characteristic anxiety, severe hypertension, tremor, facial edema, and generalized diaphoresis. The patient recovered within a week without sequelae. Clinicians should not overlook the possibility of acute renal failure in latrodectism.     

Comparison of pathological features of gastric carcinoma in Turkey and Germany.

Environmental factors play an important role in gastric carcinogenesis and in the morphological features of gastric carcinomas. The aim of our study was to examine whether gastric carcinoma cases from Turkey and Germany differ in their topographical localization and in their histopathological and immunophenotypic profiles. We studied 80 gastric carcinoma cases from Turkey and 80 cases from Germany. The tumors were classified according to the Lauren, Goseki, and Carneiro classifications. We also determined the immunophenotype of the tumors on the basis of their mucin (MUC1, MUC2, MUC5AC, and MUC6) and adhesion molecule (E-cadherin, alpha-catenin, beta-catenin) expression patterns. In the German series a proximal localization prevailed (p<0.02). In the Goseki classification, Grade I tumors were more frequent in the Turkish series, while Grade IV carcinomas (all of which stained positively for MUC5AC) were more common in the German series (p<0.24).The differences in adhesion molecule expression in the two groups were not significant. In conclusion, gastric carcinomas from Turkey and Germany differ in their topographical localization and the frequency of gland-forming versus signet-ring cell carcinomas. These differences may indicate that the factors thought to contribute to the development of gastric carcinoma, such as dietary habits and Helicobacter pylori infection, have different impact in the two countries.