Age-related changes in ovarian volume, antral follicle counts and basal follicle stimulating hormone levels: comparison between fertile and infertile women.

Our objective was to compare the relationship between age, basal follicle stimulating hormone (FSH) level and ultrasound-measured mean ovarian volume (MOV) and mean antral follicle counts (MFC) in a group of infertile and fertile women between the ages of 35 and 45 years. Menstrual cycle day 3 serum FSH, MOV and MFC were analyzed in 62 infertile and 53 fertile women. Basal FSH and MFC did not differ between infertile and fertile women, whereas MOV was significantly smaller in infertile women (p < 0.05). In the infertile group, there was a negative correlation between MOV and age (rho = -0.389, p < 0.05), between MOV and basal FSH (rho = 0.495, p < 0.01), and between MFC and age (rho = -0.553, p < 0.01). In the fertile group, there was a strong negative correlation between MOV and basal FSH (rho = -0.631, p < 0.01), and between MFC and basal FSH (rho = -0.710, p < 0.01). Mean basal FSH, MOV and MFC did not differ between subgroups of patients with different causes of infertility. In the infertile group, patients with small ovaries of volume less than 1.8 cm(3) (mean volume -1 SD) had higher mean basal FSH (p < 0.05) and lower MFC (p < 0.01) levels than patients with normal ovarian volume. In conclusion, transvaginal ultrasound (TVU) indices and indirect hormonal parameters of ovarian reserve were similar in infertile and fertile women aged between 35 and 45 years. It is suggested that, in infertile women above 35 years of age, TVU rather than hormonal parameters be preferred, based on our data showing a stronger association between age and TVU indices of ovarian reserve than between age and increase in basal FSH level. Thus, TVU assessment of ovarian volume and antral follicle counts is a practical and cost-effective, if not better, technique for ovarian reserve testing.     

Intraosseous lipoma of the frontal bone. A case report

Intraosseous lipomas are among the most uncommon bone tumors. They arise most often in the appendicular skeleton. There are very few reported cases of intraosseous lipomas within the skull bones. We report a case of intraosseous lipoma of the frontal bone with conventional radiography and CT findings.     

Necrotizing fasciitis: unreliable MRI findings in the preoperative diagnosis

The authors present two cases of necrotizing fasciitis (NF), one case of dermatomyositis and one case of posttraumatic muscle injury, which have similar magnetic resonance imaging findings in terms of skin, subcutaneous fat, superficial and deep fasciae and muscle involvement. These cases highlight the need for cautious interpretation of magnetic resonance imaging (MRI) findings, for they are nonspecific and the preoperative decision should be based mostly on the evolution of the clinical status.     

Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations

BackgroundFamilial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancer-prone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant transformation. Attenuated familial adenomatous polyposis is a variant of familial adenomatous polyposis, which is a term used for the condition in which patients have less than 100 colorectal polyps. Germline heterozygous Adenomatous polyposis coli (APC) and biallelic MUTYH (mutY DNA glycosylase) pathogenic variations are responsible for familial adenomatous polyposis and MUTYH-associated polyposis respectively. The aim of this study is to discuss the clinical manifestations of patients having pathogenic APC and MUTYH variations.MethodsWe included 27 probands who have more than 10 colonic polyps in this study. After evaluation of their clinical and family histories, the probands were screened for APC and MUTYH variations via next generation sequencing. The family members of the probands carrying pathogenic variations were screened via Sanger sequencing. ResultsAmong 27 probands, pathogenic APC and MUTYH variations were detected in 3 and 6 probands respectively. In the APC gene, 3 novel truncating variations (p.Leu360*, p.Leu1489Phefs*23, and p.Leu912*) were detected in 3 unrelated probands. In the MUTYH gene, only 2 distinct pathogenic variations were detected (p.Pro295Leu and p.Glu480del) in the homozygous or compound heterozygous state.ConclusionIn this study, molecular etiology was clarified in 9 familial polyposis patients. The p.Pro295Leu and p.Glu480del variations seem to be common in the Turkish population and may be considered as a first-step genetic test in Turkish familial polyposis patients showing autosomal recessive inheritance. However more studies are needed to reveal the exact frequency of these variations.