A familial case of aortic dilatation with p.Tyr470Cys in in which the phenotype included only vascular lesions.

Hereditary connective tissue diseases have different risks of aortic dissection depending on the causative gene. We report a family with no extravascular phenotype and a clinical diagnosis of familial thoracic aortic aneurysm and dissection, but genetic testing confirmed p.Tyr470Cys in , which is typically the responsible gene for Loeys-Dietz syndrome.

Social consequences of recurrent pregnancy loss and maternal myths, past, present, and future in Japan.

In Japan, the myth of motherhood, the idea that every woman harbours maternal love and that a woman only becomes a full-fledged woman after giving birth, has existed for a long time. However, there has been a limited number of studies concerning this motherhood myth in patients with recurrent pregnancy loss (RPL). The present study aimed to examine the experiences of maternal myths in patients with RPL and to determine whether maternal myths affect depression.

Prevalence of congenital cytomegalovirus infection according to the type of maternal infection in Japan.

Introduction: Variable rates of cytomegalovirus (CMV) seropositivity in mothers from different individual's background may translate to distinct epidemiological patterns of congenital CMV infection.

Methods: The prospective cohort study was conducted in Japan to evaluate the prevalence of vertical transmission rate according to the type of maternal infection. Post hoc power as a follow-up analysis was evaluated to compare the statistical power with other studies from France, Finland and Brazil.

Long-term prognosis of epilepsy in patients with cerebral palsy.

Aim: To assess the long-term natural course and prognosis of epilepsy in patients with cerebral palsy (CP).

Method: We retrospectively collected data for 72 patients (36 males, 36 females) with CP who had epilepsy who visited our institutions between 1980 and 2015. The data from medical records, electroencephalography (EEG), and neuroimaging findings were reviewed.

[Neurological sequelae of acute encephalopathy with febrile convulsive status epilepticus].

Objective: The clinical characteristics of neurological sequelae in patients with acute encephalopathy with febrile convulsive status epilepticus (AEFCSE) was elucidated.

Methods: We retrospectively reviewed 8 patients, which were admitted to our hospital from 2002 to 2011.

Results: In the subacute phase, transient neurological symptoms, such as dystonia (n = 3), choreoathetosis (n = 2), oral tendency (n = 5) and unilateral spatial neglect (n = 6), appeared from 3 weeks after onset.

Two motifs essential for nuclear import of the hnRNP A1 nucleocytoplasmic shuttling sequence M9 core.

Heterogeneous nuclear ribonucleoprotein (hnRNP) A1 regulates mRNA genesis. It shuttles between the nucleus and cytoplasm. Its shuttling signal is a 38-residue sequence M9.