Symptomatic renal metastasis 5 years after the management of a squamous cell carcinoma of the lung

A case of solitary renal metastasis five years after the management of a primary squamous cell carcinoma of the lung is presented.     

Testis sparing surgery for the treatment of a sequential bilateral testicular germ cell tumor

Standard therapy of sequential bilateral testis cancer is generally considered to be orchiectomy. We present a case of sequential bilateral testicular germ cell tumor treated with testis sparing surgery. The patient was disease free 50 months after surgery without local recurrence or distant metastases. Testis sparing surgery provides a better quality of life and may be considered a safe, feasible alternative in the treatment of carefully selected patients with bilateral testicular germ cell tumor.     

Menstrual pattern and common menstrual disorders among university students in Turkey

BACKGROUND: Menstrual disorders may affect the life of adolescents and young adult women, and may sometimes cause serious problems. The patterns of menstrual cycles were analyzed for association with age of menarche, prevalence of menstrual irregularity, dysmenorrhea, prolonged menstrual bleeding, and effect of menstrual disorders, especially dysmenorrhea, on social activities and school attendance among the female students. METHODS: A total of 480 students were randomly selected and asked to complete an the anonymous questionnaire of 25 items. RESULTS: The mean age of the subjects at menarche was 12.8 +/- 1.3 years with a range of 9-17 years. The duration between two periods and the menstrual flow were 27.7 +/- 2.5 days and 5.8 +/- 1.4 days, respectively. The prevalence of menstrual irregularity, prolonged menstrual bleeding and dysmenorrhea were 31.2%, 5.3% and 89.5%, respectively. Approximately 10% of dysmenorrheic subjects had severe dysmenorrhea; and school absenteeism and need to consult a physician were more common in those subjects. The first source of their knowledge about menarche and menstruation was their mothers in 211 subjects (54%); only 18 subjects (4.6%) were given a lecture about menstruation and menarche at school. CONCLUSION: The prevalence of dysmenorrhea and menstrual irregularity was high, and most adolescents have inappropriate and insufficient information about menstrual problems. Hence, an education program is needed at the end of primary school about menarche and menstrual problems.     

Proliferative activity, angiogenesis and nuclear morphometry in renal cell carcinoma

BACKGROUND: Prognostic parameters other than tumor stage and grade are essential for renal cell carcinoma (RCC) patients. This study was undertaken to determine the usefulness of cellular proliferation, angiogenesis and nuclear morphometry in predicting the biological aggressiveness of RCC. METHODS: Surgical specimens of 70 patients with RCC were investigated by conventional histology, Ki-67 immunostaining and stereological assessment of angiogenesis and mean nuclear volume. RESULTS: There was no difference in disease-specific survival with respect to sex, age and histopathological type (except sarcomatoid and other types). The survival was significantly lower and the chance of metastases was higher in the group with higher proliferative activity (P=0.007). There was no relation between angiogenesis, mean nuclear volume, stage and survival. There was a significant relation between both Fuhrman and WHO grades, tumor stage and survival. Histopathological type, grade, angiogenesis and mean nuclear volume failed to predict recurrences and/or metastases. In multivariate analysis, only TNM stage and proliferative activity were found to be independent prognostic factors. CONCLUSIONS: In addition to tumor grade and stage, proliferative activity of a given RCC may have the potential to identify patients with an impaired prognosis.     

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

Background/aim Isolated methylmalonic acidemia (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 or mut– enzymatic subtype), a defect of its cofactor adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. While onset of the disease ranges from the neonatal period to adulthood, most cases present with lethargy, vomiting and ketoacidosis in the early infancy. Major secondary complications are; growth failure, developmental delay, interstitial nephritis with progressive renal failure, basal ganglia injury and cardiomyopathy. We aimed to demonstrate clinical and molecular findings based on long-term follow up in our patient cohort. Materials and methods The study includes 37 Turkish patients with isolated MMA who were followed up for long term complications 1 to 14 years. All patients were followed up regularly with clinical, biochemical and dietary monitoring to determine long term complications. Next Generation Sequencing technique was used for mutation screening in five disease-causing genes including; MUT , MMAA , MMAB , MMADHC , MCEE genes. Mutation screening identified 30 different types of mutations. Results While 28 of these mutations were previously reported, one novel MMAA mutation p.H382Pfs*24 (c.1145delA) and one novel MUT mutation IVS3+1G>T(c.752+1G>T) has been reported. The most common clinical complications were growth retardation, renal involvement, mental motor retardation and developmental delay. Furthermore, one of our patients developed cardiomyopathy, another one died because of hepatic failure and one presented with lactic acidosis after linezolid exposure. Conclusion We have detected two novel mutations, including one splice-site mutation in the MUT gene and one frame shift mutation in the MMAA gene in 37 Turkish patients. We confirm the genotype-phenotype correlation in the study population according to the long-term complications.