No abstract available.
Ferritins*

Kallmann syndrome is characterized by hypogonadotropic hypogonadism resulting from insufficient release of GnRH and associated with anosmia or hyposmia. We experienced two cases of Kallmann syndrome with abnormal brain MRI findings(olfactory bulb aplasia) & secondary sexual dysfunction.
Brain ; Gonadotropin-Releasing Hormone ; Hypogonadism ; Kallmann Syndrome* ; Magnetic Resonance Imaging ; Olfaction Disorders

Kallmann syndrome is characterized by hypogonadotropic hypogonadism resulting from insufficient release of GnRH and associated with anosmia or hyposmia. We experienced two cases of Kallmann syndrome with abnormal brain MRI findings(olfactory bulb aplasia) & secondary sexual dysfunction.
Brain ; Gonadotropin-Releasing Hormone ; Hypogonadism ; Kallmann Syndrome* ; Magnetic Resonance Imaging ; Olfaction Disorders

No abstract available.

No abstract available.
Pityriasis Lichenoides* ; Pityriasis*

No abstract available.
Pityriasis Lichenoides* ; Pityriasis*

No abstract available.
Factor V Deficiency* ; Factor V*

Background: Most abdominal aortic aneurysms are degenerative atherosclerotic aneurysms. Inflammatory or infected abdominal aortic aneurysms, which show a slightly different clinical course, are rarely encountered in clinical settings. Therefore, we aimed to investigate the clinical course of these variants of abdominal aortic aneurysms. Methods: This retrospective study included 32 patients with atypical inflammatory or infected abdominal aortic aneurysms who underwent emergent graft replacement between November 1997 and December 2017. Patients were followed up at the outpatient clinic for a mean period of 4.9±6.9 years. We analyzed the patients’ clinical course and compared it with that of patients with atherosclerotic abdominal aortic aneurysms. Results: There was 1 surgical mortality (3.0%) in a case complicated by aneurysmal free rupture. In 2 cases of infected abdominal aortic aneurysms, anastomotic complications developed immediately postoperatively. During the follow-up period, 10 patients (30%) developed graft complications, and 9 of them underwent reoperations; of these, 2 patients (22.2%) died of postoperative complications after the second operation, whereas 2 patients survived despite graft occlusion. Conclusion Patients with inflammatory abdominal aneurysms frequently develop postoperative graft complications requiring secondary surgical treatment, so they require close mandatory postoperative follow-up.

Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced parental translocation or due to de novo duplication. Here, we present the first report of a combined partial trisomy 2p and trisomy 18p due to a supernumerary marker chromosome (SMC). The final karyotype of the patient was 47,XX,+der(18)t(2;18)(p23.1;q11.1)[22]/46,XX[8]. The patient had typical dysmorphic features of partial trisomy 2p23-pter syndrome and congenital heart disease. SMCs are remarkably variable in euchromatic DNA content and mosaicism level. The precise identification of the origin and composition of SMCs is essential for genotype-phenotype correlation and genetic counseling.
Abnormalities, Multiple/*genetics ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 2 ; Cytogenetic Analysis ; Female ; Genetic Counseling ; Heart Defects, Congenital/*genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Syndrome ; *Trisomy/diagnosis

Fibrolamellar carcinoma (FLC) is a rare variant of hepatocellular carcinoma (HCC). A 26-year-old female presented a hepatic mass and mild elevation of liver enzymes. Viral markers were negative, and levels of tumor markers were normal. Radiologically, the mass was well demarcated with central dot-like calcification and hypervascularity. Under the diagnosis of hepatocellular carcinoma, right lobectomy was performed. The tumor was grayish yellow with central fibrosis and focal hemorrhage and invaded a septal bile duct. Non-neoplastic liver was unremarkable. Microscopically, the tumor consisted of large polygonal cells in sheets, cords, and pseudoglands that were interwound by dense collagenous stroma. Tumor cells had abundant deeply eosinophilic cytoplasm and large nuclei with prominent nucleoli. Intracellular bile pigments and pale bodies were present. Tumor cells were diffusely immunostained for cytokeratin 7 (CK7), but not for cytokeratin 20 (CK20). Strong expression of CK7 in the present case suggests dual differentiation of FLC.
Adult ; Bile Ducts ; Bile Pigments ; Biomarkers ; Carcinoma, Hepatocellular* ; Collagen ; Cytoplasm ; Diagnosis ; Eosinophils ; Female ; Fibrosis ; Hemorrhage ; Humans ; Keratin-20 ; Keratin-7* ; Keratins* ; Liver ; Biomarkers, Tumor