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Objective: An Arterial Stiffness Index (ASI) can be obtained by measuring finger photoplethysmogram using the SB200 pulse oximeter, giving a level between 1 and 6. However, it was unclear whether this method accurately reflected arterial stiffness. Brachial—Ankle Pulse Wave Velocity (baPWV) is an established method for the assessment of arterial stiffness, allowing us to compare baPWV and our own ASI. Methods: We retrospectively collected data from 18 patients scheduled for neuroendovascular therapy in the Department of Neurosurgery at Osaka University Hospital between March 2016 and December 2016, for whom both baPWV and SB200 measurements were performed prior to their procedure. This allowed us to assess the relationship between the ASI and the baPWV. We defined patients with an ASI ≥ 3 on the SB200 as the progressed arterial stiffness group, while patients with a level of ≤2 were considered normal. BaPWV was compared across the two groups. We also analyzed the receiver operating characteristic curve for predicting baPWV values ≥ 1700 cm/s by the ASI measurement. Results: The progressed arterial stiffness group showed significantly higher baPWV values (p = 0.0087). The area under the curve for the ASI was 0.84. The ASI of 3 had a sensitivity of 71.4% and a specificity of 90.1% for predicting baPWV ≥ 1700 cm/s. Conclusion: We conclude that the non-invasive and portable SB200 device successfully measured arterial stiffness. [ABSTRACT FROM AUTHOR]

Schwannomatosis is the third major form of neurofibromatosis (NF) and is distinct from NF1 and NF2. The disease is not well recognized in Asian countries and the role of germline SMARCB1 mutations requires investigation. A 35-year-old Japanese man complaining of headache underwent an MRI examination, which showed a cystic tumor at the left cerebellopontine angle. The tumor was surgically removed and diagnosed as vagus nerve schwannoma. He had a past medical history of multiple schwannomas of the neck, groin and intercostal nerves, which were also treated surgically. He had a family history of multiple schwannomas for his father and sister. Systemic examinations of these family members ruled out a diagnosis of NF1 or NF2, and thus schwannomatosis was suspected. Genetic analysis revealed a germline mutation (c. *82C > T) of SMARCB1, and a somatic mutation of NF2 without loss of heterozygosity at the chromosome 22 locus. This is the first report of familial schwannomatosis associated with a germline mutation of SMARCB1 in an Asian country. [ABSTRACT FROM AUTHOR]

Background: Primary intracranial germ cell tumors (IGCTs) represent an uncommon category of neoplasms, and familial occurrence is rare. We present the first report of parent-child patients with pathologically confirmed pure germinomas. Case report: A 36-year-old Japanese man presented with diabetes insipidus and hypopituitarism. Magnetic resonance imaging (MRI) revealed a mass lesion in the pituitary stalk, which was diagnosed as a pure germinoma by open craniotomy tumor biopsy. Seven years later, his 13-year-old son also presented with diabetes insipidus. MRI revealed mass lesions in the pituitary stalk and the pineal region. He underwent endoscopic tumor biopsy for the pineal lesion, which was diagnosed as a pure germinoma. Both the father and his son were treated with combined radiochemotherapeutic regimens and achieved complete remission after one to two cycles of chemotherapy. Conclusion: Although there have been three previous case reports of familial germinoma, all of these involved sibling pairs. The present report represents the first parent-child cases. This type of familial occurrence suggests the possibility that germline mutations may also be involved in the development of IGCTs. [ABSTRACT FROM AUTHOR]