Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by asymmetric muscle wasting and weakness. FSHD can be subdivided into two types: FSHD1, caused by contraction of the D4Z4 repeat on chromosome 4q35, and FSHD2, caused by mild contraction of the D4Z4 repeat plus aberrant hypomethylation mediated by genetic variants in SMCHD1, DNMT3B, or LRIF1. Genetic diagnosis of FSHD is challenging because of the complex procedures required. Methods We applied Nanopore CRISPR/Cas9-targeted resequencing for the diagnosis of FSHD by simultaneous detection of D4Z4 repeat length and methylation status at nucleotide level in genetically-confirmed and suspected patients. Results We found significant hypomethylation of contracted 4q-D4Z4 repeats in FSHD1, and both 4q- and 10q-D4Z4 repeats in FSHD2. We also found that the hypomethylation in the contracted D4Z4 in FSHD1 is moderately correlated with patient phenotypes. Conclusions Our method contributes to the development for the diagnosis of FSHD using Nanopore long-read sequencing. This finding might give insight into the mechanisms by which repeat contraction causes disease pathogenesis.

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Postural tachycardia syndrome (POTS) can cause orthostatic headache. However, it is difficult to differentiate POTS from spontaneous intracranial hypotension (SIH) caused by cerebrospinal fluid (CSF) leaks. We herein report a 53-year-old woman who presented with SIH associated with POTS. A cervicothoracic and lumbar epidural blood patch rapidly improved not only the headache but also the orthostatic tachycardia, suggesting POTS secondary to SIH. This case suggests that a CSF leak can cause secondary POTS. Therefore, POTS should be considered in patients with orthostatic headaches, even in the presence of a CSF leak.

When David Hilbert started so called "Hilbert's program" (formalization of mathematics) in the early 20th century to give a solid foundation to mathematics, he unintentionally introduced the possibility of automatization of mathematics. Theoretically, the possibility was denied by Gödel's incompleteness theorem. However, an interesting issue remains: is "mundane mathematics" automatizable? We are developing a system that solves a wide range of math problems written in natural language, as a part of the Todai Robot Project, an AI challenge to pass the university entrance examination. We give an overview and report on the progress of our project, and the theoretical and methodological difficulties to be overcome.

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