Novel pathogenic gene mutations in Japanese patients with chorea-acanthocytosis.

Objective: To identify mutations in () for Japanese patients with suspected chorea-acanthocytosis (ChAc).

Methods: We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with ChAc.

Daikenchuto accelerates the recovery from prolonged postoperative ileus after open abdominal surgery: a subgroup analysis of three randomized controlled trials.

Purpose: Prolonged postoperative ileus (POI) is a common complication after open abdominal surgery (OAS). Daikenchuto (DKT), a traditional Japanese medicine that peripherally stimulates the neurogenic pathway, is used to treat prolonged POI in Japan. To analyze whether DKT accelerates the recovery from prolonged POI after OAS, we conducted a secondary analysis of three multicenter randomized controlled trials (RCTs).

Relationship of aging and nutritional status to innate immunity in tube-fed bedridden patients.

Background And Objectives: Aging and malnutrition are known to influence immune functions. The aim of this study was to investigate the relationship of aging and malnutrition to innate immune functions in tube-fed bedridden patients.

Methods And Study Design: A cross-sectional survey was performed in 71 tube-fed bedridden patients aged 50-95 years (mean age±SD, 80.

[[(123)I]-Ioflupane SPECT in combination with MIBG myocardial scintigraphy in Parkinson's disease: a case series study].

Metaiodobenzylguanidine (MIBG) myocardial scintigraphy is widely accepted as a beneficial tool for differentiating Parkinson's disease (PD) from other Parkinson-related disorders (PRD). In Japan, dopamine transporter (DAT) imaging, which can evaluate presynaptic degeneration of dopamine neurons, has been applied in clinics since 2014. The present study investigated the utility of [(123)I]-Ioflupane single photon emission computed tomography (SPECT) combined with MIBG myocardial scintigraphy for the diagnosis of PD.

[A case of orbital apex syndrome due to aspergillus infection that avoided loss of visual acuity by optic canal decompression].

A 71-year-old woman was admitted to our hospital complaining of left orbital pain, headache, diplopia and left-sided ptosis, which she had suffered for two months. On examination, the patient had loss of visual acuity, left-sided ptosis, lateral gaze disturbance, and was diagnosed as having left orbital apex syndrome. An abnormal signal to the left orbital cone was detected on MRI.

Characteristic features and progression of abnormalities on MRI for CARASIL.

Objectives: The objective of this study was to clarify the characteristic brain MRI findings for genetically diagnosed CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy).

Methods: Seven patients with CARASIL carrying HTRA1 mutations (representing 6 Japanese families) were included in this study. Eighteen brain MRIs were reviewed and evaluated with a new rating scale based on scoring for abnormal hyperintense lesions and atrophy.

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.

Importance: Although mutations in 26 causative genes have been identified in the spinocerebellar ataxias (SCAs), the causative genes in a substantial number of families with SCA remain unidentified.

Objective: To identify the causative gene of SCA in 2 Japanese families with distinct neurological symptoms and radiological presentations.

Design, Setting, And Participants: Clinical genetic study at a referral center of 11 members from 2 Japanese families, which started in 1997.

[Progression from episodic migraine to chronic migraine].

Migraine is, essentially, an episodic disease. However, characteristics of headache of some episodic migraine change like as tension-type headache and number of headache days also increased, as a result, develop into chronic migraine.However, it is difficult to distinguish chronic migraine and medication oversuse headache.

[Case of Isaacs' syndrome associated with Hashimoto disease].

We report a case of Isaacs' syndrome associated with Hashimoto disease. A 26-year-old woman, who had a past history of Hashimoto disease, complained of involuntary movements and muscle cramp in lower extremities. On examination, myokymia was seen in lower extremities.

[Ophthalmology].

The Headache Classification Subcommittee of the International Headache Society classifies headaches related to eyes as "Headache attributed to disorder of eyes" in the International Classification of Headache Disorders; 2nd Edition(ICHD-II). It consists of "Headache attributed to acute glaucoma", "Headache attributed to refractive errors", "Headache attributed to heterophoria or heterotropia(latent or manifest squint)", "Headache attributed to ocular inflammatory disorder". But other causes of headache related to eyes exist.

[Terminal care in the Department of Neurology].

Patients in the Department of Neurology undergoing treatment for disorders such as cerebrovascular disease, dementia, metabolic disease, neuromuscular disease and intractable disease, are included as subjects requiring terminal care. Intractable diseases ware defined by the Ministry of Health and Welfare (Ministry of Health, Welfare and Labor) in 1972 as being of unknown etiology, untreatable, chronically progressive and sometimes worsened by the care provided when nursing these patients. Intractable diseases in the Department of Neurology rank with those seen in other departments.

[Current status and needs of the department of neurology as a specialized department of a general hospital].

In this report, I have summarized the current situation surrounding diagnosis, treatment and related needs in the department of neurology in relation to postgraduate neurology training considered from the standpoint of a specialized department within a general hospital. This summary is based on the responses to a questionnaire that was sent to the persons in charge of education and training at 180 institutions affiliated with the Japanese Society of Neurology and 478 education and training institutions among Japanese city hospitals, excluding university hospitals and special research institutions. Replies were received from 305 hospitals, amounting to a response rate of 63.

Dose-dependent effects of repeated ketamine administration on muscarinic acetylcholine receptors in the mouse forebrain.

To study the effects of repeated ketamine administration (0: saline, 12.5, 25, and 50 mg·kg every 3 days for a total of five times, subcutaneously) on the central muscarinic acetylcholine receptors (mAchRs), receptor binding assays of mAchR were carried out in the forebrain of mice, using [H]quinuclidinyl benzilate ([H]QNB) as a ligand. We also examined whether repeated ketamine administration could modify the sensitivity to scopolamine (0.

[A case of cavernous angioma--usefulness of magnetic resonance imaging and magnetic resonance angiography in diagnosis].

We reported a case of cavernous angioma in the middle cranial fossa, which was diagnosed with magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). The patient was a 56-year-old female, who presented with sudden onset right-sided headache with nausea. Her neurological findings were normal.

[A case of migraine with aura associated with meningioma].

We reported a case of migraine with aura associated with meningioma. A 66-year-old female visited to our department in 1985, with occipital throbbing pain following visual hallucination and nausea. She had been diagnosed as migraine.

[Basilar artery migraine associated with transient global amnesia].

Transient global amnesia (TGA) is an unusual form of the amnestic syndrome, clinically characterized by profound disturbance of short-term memory with preservation of immediate recall and long-term memory. Spontaneous recovery is the rule and is usually complete within several hours. The etiology of TGA is not clear.