FAM160B1 deficit associated with microcephaly,severe intellectual disability,ataxia, behavioral abnormalities and speech problems

Intellectual disability (ID) varies in severity and is often associated with a variety of other clinical features. In consanguineous populations ID is usually inherited in an autosomal recessive fashion. Many genes are known for the condition, but many more are yet to be identified. By linkage analysis and exome sequencing we identified homozygous early truncating variant c.115G > T (p.Glu39*) in FAM160B1 in a 38-year-old woman with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism. Recently homozygous missense c.248 T > C (p.Leu83Pro) was reported to underlie the ID syndrome in a 7-year-old boy and his two younger siblings. Some findings for those siblings overlap with those for our patient, but our patient does not have cutis laxa. Our findings confirm FAM160B1, with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the FAM160B1-related ID, and describe the disease in a much older age.     

Can Laws Be a Potential PET Image Texture Analysis Approach for Evaluation of Tumor Heterogeneity and Histopathological Characteristics in NSCLC?

Journal of Digital Imaging - We investigated the association between the textural features obtained from 18F-FDG images, metabolic parameters (SUVmax, SUVmean, MTV, TLG), and tumor...     

Correlation of Tumoral Prognostic Factors by Sonoelastography Score in Patients to be Operated Due to Breast Cancer

Predictability of pre-op prognosis on patient with a diagnosis of breast cancer is quite valuable for the choice of both surgical technique and adjuvant therapy. With the aim of evaluation of sonoelastography score utility in this respect, correlation of tumoral prognostic factors by sonoelastography score in patients be operated due to breast cancer was analyzed on our study. Pre-op sonoelastography results and tumoral hystopathological properties of 60 patients operated with a diagnosis of breast cancer in 2011 at Adnan Menderes University Faculty of Medicine General Surgery Department were analyzed retrospectively. As an elastography scoring method, “Tsukuba scoring system” was used. Statistically significant differences(p?<?0,05) were determined between tumor grade and Ki-67 analyzed as prognostic factor with tumors reported as sonoelastography score 4 and score 5, on the other hand there were no statistically significant differences between tumor size, positivity of axillary lymph nodes, significance of lymphovascular invasion, p-53 positivity, CerbB-2 positivity, hormone receptor positivity, tumor hysthologic type and applied surgical technique between tumors reported as elastography score 4 and score 5. (p?>?0.005). Foresee ability of prognostic factors correlation by sonoelastography score will be guide way for the choice of surgery technique, determination of adjuvant therapy and patient follow-up.     

Splenic Hydatid Cysts: 17 Cases

Hydatid cyst disease, which is endemically observed and an important health problem in our country, involves the spleen at a frequency ranking third following the liver and the lungs. In this study, we aimed to evaluate the efficacy and results of management in splenic hydatid cysts. The demographic data, localization, diagnosis, treatment methods, and the length of postoperative hospital stay of patients with splenic hydatid cysts in a 12-year period were evaluated retrospectively. Seventeen cases were evaluated. Among these, 13 were females and four were males. Seven had solitary splenic involvement, eight had involvement of both the spleen and the liver, and two had multiple organ involvement. Ten had undergone splenectomy, one had undergone distal splenectomy, and the remaining cases had undergone different surgical procedures. The patients had received albendazole treatment in the pre- and postoperative period. One patient had died secondary to hypernatremia on the first postoperative day. The clinical picture in splenic hydatid cysts, which is seen rarely, is usually asymptomatic. The diagnosis is established by ultrasonography and abdominal CT. Although splenectomy is the standard mode of treatment, spleen-preserving methods may be used.