Publications by authors named "Kazutaka Shiomi"

Small cell lung carcinoma (SCLC) is a neuroendocrine carcinoma with a poor prognosis and is a common cause of paraneoplastic syndromes. Paraneoplastic syndromes are characterized by neurological and endocrinological problems in patients with malignancy and are often associated with difficulty in induction of chemotherapy. Here we report the case of a patient with SCLC concomitant with two paraneoplastic syndromes, syndrome of inappropriate antidiuretic hormone secretion (SIADH) and Lambert-Eaton myasthenic syndrome (LEMS), who was treated with a platinum-doublet chemotherapy regimen.

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We develop a specific derivatization gas chromatography-mass spectrometry (GC-MS) method for cyanide using 1,2,3,3-tetramethyl-3H-indium iodide as the derivatization reagent. The derivative compounds were synthesized and characterized using H nuclear magnetic resonance (NMR), C NMR, and Fourier transform infrared (FT-IR) spectroscopy. The high selectivity of this derivatization for cyanide is supported by calculations and activation energy comparisons.

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As a result of population growth and the development of tube wells, humans' exposure to arsenic has increased over the past few decades. The natural course of organ damage secondary to arsenic exposure is not yet well understood. In Toroku, Japan, an arsenic mine was intermittently operated from 1920 to 1962, and residents were exposed to high concentrations of arsenic.

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Derlin family members (Derlins) are primarily known as components of the endoplasmic reticulum-associated degradation pathway that eliminates misfolded proteins. Here we report a function of Derlins in the brain development. Deletion of or in the central nervous system of mice impaired postnatal brain development, particularly of the cerebellum and striatum, and induced motor control deficits.

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A 70-year-old man visited our hospital with a chief complaint of involuntary movements, diagnosed as chorea, involving the right upper and lower limbs. Brain MRI showed acute cerebral infarctions involving the left insular and parietal cortices. Chorea is usually due to dysfunction of components of the basal ganglia pathways, such as the caudate nucleus or subthalamic nucleus, and is rarely caused by lesions of the insular or parietal cortex.

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Objective: To study the presence of liver-expressed antimicrobial peptide 2 (LEAP2) in human cerebrospinal fluid (CSF) and to measure its concentrations in neurological disorders.

Materials & Methods: We identified the presence of LEAP2 in human CSF by chromatographic analysis and a LEAP2-specific enzyme immunoassay. We measured LEAP2 concentrations in the CSF of 35 patients with neurological disorders.

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Introduction: Perry disease (Perry syndrome), a hereditary TAR DNA-binding protein 43 (TDP-43) proteinopathy, is caused by dynactin subunit 1 (DCNT1) mutations and is characterized by rapidly progressive parkinsonism accompanied by depression, apathy, unexpected weight loss, and respiratory symptoms including central hypoventilation and central sleep apnea. Meta-iodobenzylguanidine (MIBG) myocardial scintigraphy is considered a diagnostic biomarker for Lewy body disease (LBD), as denervation of cardiac sympathetic nerves is a pathological feature in LBD. However, our previous studies have reported a decreased cardiac uptake of MIBG in patients with Perry disease.

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Article Synopsis
  • A 61-year-old woman with HTLV-1-associated myelopathy and interstitial pneumonia was admitted with symptoms like dry eyes, joint pain, and swelling.
  • She was diagnosed with rheumatoid arthritis and Sjögren's syndrome but could not take standard treatments due to her severe respiratory and neurological conditions.
  • Tocilizumab monotherapy was effective in reducing the rheumatoid arthritis activity without worsening her neurological symptoms, indicating its potential as a safe treatment option for similar patients.
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Background: The evaluation of neurological examination in clinical practice still remains qualitative or semi-quantitative, and the results often vary depending on an examiner's skill level and are less objective. In this study, we developed a smartphone-based application to investigate quantifying neurological examinations using hand-drawn spirals and diagnose patients with tremor using artificial intelligence (AI).

Methods: This study included 24 and 26 patients with essential tremor (ET) and cerebellar disease (CD), respectively, and 41 age-matched normal controls (NCs).

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Aims: Polypharmacy is well known to affect cognitive function in community-dwelling older adults. However, the effect of polypharmacy on cognitive function in patients with newly diagnosed Parkinson's disease remains unknown. Here, we evaluated the association between polypharmacy and cognitive function in patients with newly diagnosed Parkinson's disease.

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We describe our encounter with a 39-year-old man who exhibited acute painless visual loss and progressive gait disturbance. He had tendinous xanthoma and several neuroophthalmological findings indicative of optic neuropathy in the right eye, including afferent pupillary defect, cecocentral scotoma, and optic disc swelling. Neurological examination showed cerebellar ataxia and pyramidal weakness.

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Chorea is thought to be caused by deactivation of the indirect pathway in the basal ganglia circuit. However, few imaging studies have evaluated the basal ganglia circuit in actual patients with chorea. We investigated the lesions and mechanisms underlying chorea using brain magnetic resonance imaging (MRI) and F-fluorodeoxyglucose positron emission tomography (FDG-PET).

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Chronic arsenic intoxication is known to cause multisystem impairment and is still a major threat to public health in many countries. In Toroku, a small village in Japan, arsenic mines operated from 1920 to 1962, and residents suffered serious sequelae of arsenic intoxication. We have performed annual medical examinations of these residents since 1974, allowing us to characterize participants' long-term health following their last exposure to arsenic.

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A 50-year-old man with a family history of stroke and depression slowly developed brain lesions. Magnetic resonance imaging revealed hyperintense lesions in the diffuse white matter, external capsules, and temporal poles on T2-weighted imaging. A heterozygous mutation c.

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We investigated the relation between clinical features and electrocardiogram (ECG) parameters in patients with Parkinson's disease (PD). One hundred and fifty-six PD patients were enrolled. Their clinical features [body mass index (BMI), age, disease duration, and disease stage] and ECG parameters [RR, PR, QRS, and QT intervals, and heart rate-corrected QT (QTc)] were analyzed.

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Purpose: Lateral trunk flexion is often observed in patients with Parkinson disease (PD) and causes poor quality of life. Asymmetrical function of the basal ganglia is believed to be the main cause of lateral trunk flexion, and dysfunction of the basal ganglia facilitates the blink reflex by disinhibiting the spinal trigeminal nucleus. Our aim was to investigate whether a disinhibited blink reflex recovery curve (BRrc) was associated with lateral trunk flexion in PD patients.

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Article Synopsis
  • SH3TC2 is the gene linked to Charcot-Marie-Tooth type 4C (CMT4C) and is associated with both autosomal recessive CMT4C and a mild form of median nerve mononeuropathy with dominant inheritance.
  • A study of 1483 Japanese CMT patients led to the discovery of eight recessive variants in SH3TC2 among seven patients with demyelinating CMT, including five new variants and a previously reported variant reclassified as unknown significance.
  • Symptoms observed in these patients included early onset of symptoms in childhood, loss of ambulation around age 50, scoliosis in over half of the patients, and a high occurrence of hearing loss as a central nervous system
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We report an 81-year-old man with multiple liver metastases after tumorectomy for primary mediastinal malignant melanoma, who experienced limb weakness and sensory disturbance after nivolumab monotherapy. He was diagnosed with nivolumab-induced mononeuropathy multiplex and rhabdomyolysis based on serologic examination, muscle biopsy, magnetic resonance imaging of the limbs, and a nerve conduction study. A course of intravenous methylprednisolone (mPSL) was initiated at 1 g/day for 3 days.

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Paclitaxel is an effective chemotherapeutic agent, but has some treatment-limiting adverse effects that markedly decrease patients' quality of life. Peripheral neuropathy is one of these, and no treatment for it has been established yet. Ghrelin, an endogenous ligand for the growth hormone secretagogue receptor, is secreted from the stomach and has widespread effects on multiple systems.

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To evaluate the spinal cord atrophy that occurs in HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), we conducted magnetic resonance imaging (MRI) and pathological analyses. In the MRI study, 15 patients with HAM/TSP and 20 age-matched normal control subjects were enrolled. Anteroposterior and transverse distances and cross-sectional areas were measured and calculated at the C2, C4, C6, T2, and T6 vertebral levels.

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A 24-year-old man developed subacute onset of numbness and pain in the upper and lower limbs. Physical examination demonstrated decreased pinprick sensation, but was otherwise normal. Blood and cerebrospinal fluid parameters were normal except for mild hepatic dysfunction.

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