Genotype-phenotype correlations in alternating hemiplegia of childhood.

Objective: Clinical severity of alternating hemiplegia of childhood (AHC) is extremely variable. To investigate genotype-phenotype correlations in AHC, we analyzed the clinical information and ATP1A3 mutations in patients with AHC.

Methods: Thirty-five Japanese patients who were clinically diagnosed with AHC participated in this study.

[Historical studies on the origins of pharmaceutical sciences in Hyuga (Miyazaki). (Part 10)--students from Hyuga (Miyazaki) who studied under Sanyou Rai in Osaka and Toyou Yamawaki in Kyoto during the late Edo period].

This paper is part 10 of a historical article on young students from Hyuga who went to Osaka or Kyoto to study in the Edo period. The article investigates the influence of these students on medical and pharmaceutical sciences in the Hyuga, which is now Miyazaki-Prefecture. The knowledge in this area is limited, thus, we aimed to examine and summarize the historical events.

[Anesthetic management of a patient with Swyer-James syndrome].

Swyer-James syndrome (SJS) shows the constellation of radiographic findings of a small, hyper lucent lung, with an ipsilateral, diminished peripheral vasculature, air trapping, and a lack of peripheral fill on bronchography. We report a case of 70-year-old woman with SJS who underwent pulmonary resection of the normal side lung for lung tumor. Because of this syndrome, we could predict the hypoxia during one-lung ventilation.

Considerations for epidural anesthesia in a patient with type 1 von Willebrand disease.

Epidural anesthesia, combined with general anesthesia, was performed in a patient with type 1 von Willebrand disease (VWD). VWD is a common inherited bleeding disorder, and an anesthetic concern in patients with VWD is susceptibility to postoperative bleeding and epidural or spinal hematoma associated with neuraxial block. After confirming the patient's responsiveness to 1-desamino-8-D-arginine vasopressin (DDAVP) and obtaining informed consent, epidural anesthesia was performed to avoid the use of analgesics that inhibit platelet function.