Medulloblastoma in an adult suggestive of external granule cells as its origin: A histological and immunohistochemical study

We describe a rare case of medulloblastoma in an adult woman with histological findings suggesting an origin for this neoplasm in the external granular layer or its remnants. The patient presented with cerebellar dysfunction, and neuroimaging revealed a right cerebellar mass lesion. Pathological examination of the operative specimen revealed a medulloblastoma with occasional areas of neuronal or glial differentiation. Zic protein was also detected immunohistochemically in the tumor cells. The tumor cells were mainly distributed in the subarachnoid space and extended to the cerebellar parenchyma through the perivascular space to form tumor nodules. A suggestive finding, as concerns the origin of this neoplasm, was that the tumor cells were also spread evenly along the subpial zone of the molecular layer, reminiscent of the cellular architecture of the fetal external granular layer.     

Mutational Analysis of Androgen Receptor (AR) Gene in 46,XY Patients with Ambiguous Genitalia and Normal Testosterone Secretion: Endocrinological Characteristics of Three Patients with AR Gene Mutations

The prevalence of abnormalities in androgen receptor gene (AR) among patients with ambiguous genitalia is unknown. Moreover, endocrinological data from prepubertal patients with AR mutation are very limited. Thus, the aim of this study was to examine the prevalence of abnormalities in AR among patients with both ambiguous genitalia, which was defined as a combination of two or more genital abnormalities (i.e. hypospadias, microphallus (penile length < 25 mm), hypoplastic scrotum, bifid scrotum, undescended testis) in this study, and normal to elevated T levels. We also compared the endocrinological data of prepubertal patients with AR mutation and ambiguous genitalia with that of those without the AR mutation. We screened 26 Japanese prepubertal 46,XY patients (five from three families were included) with both ambiguous genitalia and normal to elevated T levels. Mutations in AR were found in three (two of the three were related). Among the 23 patients without mutation in AR, the steroid 5-alpha-reductase 2 gene (SRD5A2) was also examined in eight patients with elevated T/dehydrotestosterone ratio after the hCG (>10) or with undervirilized family members. No mutation in SRD5A2 was found. Characteristics of the three patients with mutation in AR were compared with the 23 patients without mutation. In two patients, basal T levels (0.3, 0.2 ng/ml) and peak T levels after the hCG tests (8.3, 8.5 ng/ml) tended to be higher, and the peak LH/ peak FSH ratios after the GnRH tests (4.6, 4.0) were higher than in patients without mutation, at the ages of 1 yr and 9 mo and 3 yr and 8 mo, respectively. In conclusion, an abnormality in either AR or SRD5A2 was not common among patients with ambiguous genitalia and normal testosterone secretion. Elevated peak LH/peak FSH ratio (≥4) after the GnRH test in addition to detectable basal T levels and elevated peak T levels after the hCG test may infer AR abnormality in prepubertal patients with ambiguous genitalia at the age of one and over, although further study is needed, because our data were limited.     

A Novel Nonradioactive Method for Measuring Aromatase Activity Using a Human Ovarian Granulosa-Like Tumor Cell Line and an Estrone ELISA

The following sentences should have read: Results, Reproducibility     

Willingness to pay for suicide prevention in Japan

The present study aimed to establish willingness to pay for suicide prevention among taxpayers in Japan. We conducted an internet-based questionnaire survey using a double-bounded dichotomous choice contingent valuation, and analyzed data for 956 participants. The median willingness to pay to reduce the mortality risk from suicide by 25% was JPY 1,572 ($13.67 USD). Being married was significantly associated with willingness to pay. The willingness to pay to reduce the mortality risk from suicide may be lower than that to reduce other mortality risks such as traffic accidents.     

Cutaneous lesions of Kikuchi's disease: Evolution of histopathological findings

We report a 38‐year‐old male patient who presented with cutaneous lesions mimicking widespread discoid lupus erythematosus with high‐grade fever, arthralgia and lymphadenopathy. Additional lymph node and skin biopsies, however, revealed karyorrhectic debris without neutrophils and numerous CD68‐positive cells, a characteristic finding of Kikuchi's disease (KD). Comparing skin biopsies on different occasions, we could see different forms of histopathology. The histopathology of skin lesions of KD may vary during the clinical course, which may reflect the stage of the disease.     

Cutaneous necrotizing vasculitis as a manifestation of familial Mediterranean fever

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease, which is characterized by recurrent and paroxysmal fever, peritonitis, arthritis, myalgia, and skin rashes. Although various skin lesions such as “erysipelas‐like erythema”, urticaria, nonspecific purpura, and subcutaneous nodules have been described, cutaneous vasculitis is rare. We report a Japanese case of sporadic FMF accompanied by cutaneous arteritis at the time of febrile attacks of FMF. Gene analysis revealed M694I mutation in a single allele of the MEFV gene, and oral colchicine successfully controlled both periodic fever and subcutaneous nodules of arteritis. Cutaneous necrotizing vasculitis repeatedly emerging with febrile attacks should be included among the skin manifestations of FMF.