An autopsy case of familial amyotrophic lateral sclerosis with a TARDBP Q343R mutation.

We describe a Japanese autopsy case of familial amyotrophic lateral sclerosis (FALS) with a TARDBP Q343R mutation. This male patient developed dysarthria at the age of 52 years, and bulbar symptoms progressed, with weakness and atrophy in the extremities. His mental status was normal, but he became bedridden, received artificial respiratory support at 54 years of age, and gradually acquired a locked-in state and died at 58 years of age.

Prevention of cognitive and physical decline by enjoyable walking-habituation program based on brain-activating rehabilitation.

Aim: Evaluating effects of an enjoyable walking-habituation program.

Methods: We carried out a 12-week intervention, consisting of an enjoyable walking-habituation program based on five principles of brain-activating rehabilitation: pleasant atmosphere, interactive communication, social roles, praising each other and errorless support. The program, once a week for 90 min, was carried out in small groups.

N-Glycosylation modulates filopodia-like protrusions induced by sez-6 through regulating the distribution of this protein on the cell surface.

Seizure-related gene 6 (sez-6) is a trans-membrane protein expressed by neuronal cells that modulates dendritic branching. It has three clusters of eleven possible N-glycosylation sites in the extracellular domain region: sugar chain (SC)1-3, SC4-7, and SC8-11. Recent reports suggest that N-glycosylation modulates the membrane trafficking and function of trans-membrane proteins.

Polymorphisms of IL-10 affect the severity and prognosis of myelodysplastic syndrome.

Polymorphisms of the interleukin-10 (IL-10) gene, which alter the production of IL-10, have been implicated in many cancers. We investigated the association between gene polymorphisms of the promoter region of IL-10 (-1082 G/A, IL-10-819 C/T, and -592 C/A) and the risk to develop myelodysplastic syndrome (MDS) and clinical features of MDS. Genomic DNA was extracted from 119 patients with MDS or chronic myelomonocytic leukemia and 202 healthy controls.

The characteristics of multi-directional step distance and the association between stepping laterality and walking ability of patients with stroke.

[Purpose] The purpose of this study was to determine the effect of stepping limb and step direction on step distance and the association of step distance and stepping laterality in step difference with walking ability and motor dysfunction. [Subjects and Methods] The subjects were thirty-nine patients with chronic hemiparesis as a result of stroke, who performed the MSL (Maximum Step Length) test along with tests of motor impairment, gait speed and Functional Ambulation Category. The MSL test is a clinical test of stepping distance in which participants step to the front, side, and back.

Trunk kinematics and muscle activities during arm elevation.

Background: While trunk movement accompanies arm elevation, trunk muscle activities during arm elevation at different speeds are unclear. The purpose of this study was to examine the trunk muscle activities at various speeds of arm elevation and then to evaluate their roles in trunk kinematics.

Methods: Twenty-two healthy subjects participated.

Accelerometry-based gait characteristics evaluated using a smartphone and their association with fall risk in people with chronic stroke.

Background: The smartphone, which contains inertial sensors, is currently available and affordable device and has the potential to provide a self-assessment tool for health management. The aims of this study were to use a smartphone to record trunk acceleration during walking and to compare accelerometry variables between poststroke subjects with and without a history of falling.

Methods: This cross-sectional study was conducted in 2 day care centers for elderly adults.

Dendritic cell SIRPα regulates homeostasis of dendritic cells in lymphoid organs.

Signal regulatory protein α (SIRPα), an immunoglobulin superfamily protein that is expressed predominantly in myeloid lineage cells such as dendritic cells (DCs) or macrophages, mediates cell-cell signaling. In the immune system, SIRPα is thought to be important for homeostasis of DCs, but it remains unclear whether SIRPα intrinsic to DCs is indeed indispensable for such functional role. Thus, we here generated the mice, in which SIRPα was specifically ablated in CD11c(+) DCs (Sirpa(Δ) (DC) ).

Disease history and risk of comorbidity in women's life course: a comprehensive analysis of the Japan Nurses' Health Study baseline survey.

Objective: To classify diseases based on age at peak incidence to identify risk factors for later disease in women's life course.

Design: A cross-sectional baseline survey of participants in the Japan Nurses' Health Study.

Setting: A nationwide prospective cohort study on the health of Japanese nurses.

Shp2 in forebrain neurons regulates synaptic plasticity, locomotion, and memory formation in mice.

Shp2 (Src homology 2 domain-containing protein tyrosine phosphatase 2) regulates neural cell differentiation. It is also expressed in postmitotic neurons, however, and mutations of Shp2 are associated with clinical syndromes characterized by mental retardation. Here we show that conditional-knockout (cKO) mice lacking Shp2 specifically in postmitotic forebrain neurons manifest abnormal behavior, including hyperactivity.

Association of performance of standing turns with physical impairments and walking ability in patients with hemiparetic stroke.

[Purpose] The effect of turn direction and relation between turn performance and walking ability in patients with hemiparetic stroke is not clear. The purpose of this study was to determine the effect of turn direction on the performance of standing turns and to examine the relations between turn performance and walking ability in patients with hemiparetic stroke. [Subject and Methods] The participants were 38 outpatients with chronic hemiparesis due to stroke.

Determination of serum lipoprotein lipase using a latex particle-enhanced turbidimetric immunoassay with an automated analyzer.

Background: Lipoprotein lipase (LPL) plays a central role in triglyceride-rich lipoprotein metabolism by catalyzing the hydrolysis of triglycerides. Quantification of serum LPL is useful for diagnosing lipid disorders, but there is no rapid method of measuring LPL for clinical use.

Methods: We developed a rapid and sensitive latex particle-enhanced turbidimetric immunoassay (LTIA) serum LPL using latex bead-immobilized anti-LPL monoclonal antibodies.

Relationship between carotid artery intima-media thickness and small dense low-density lipoprotein cholesterol concentrations measured by homogenous assay in Japanese subjects.

Background: Small dense low-density lipoprotein cholesterol (sdLDL-C) concentrations correlate more strongly with coronary heart disease than other LDL-C and large LDL particle concentrations. We investigated the association between carotid artery intima-media thickness (IMT) and sdLDL-C concentrations in Japanese subjects.

Methods: Carotid artery IMT, blood pressure (BP), fasting plasma sdLDL-C, glucose metabolism, lipid, and C-reactive protein concentrations were measured in 97 native Japanese subjects.

Aberrant cerebellar development of transgenic mice expressing dominant-negative thyroid hormone receptor in cerebellar Purkinje cells.

To study the role of the thyroid hormone (TH) in cerebellar development, we generated transgenic mice expressing a dominant-negative TH receptor (TR) in cerebellar Purkinje cells. A mutant human TRβ1 (G345R), which binds to the TH-response element but cannot bind to T3, was subcloned into exon 4 of the full-length L7/Pcp-2 gene, which is specifically expressed in Purkinje and retinal rod bipolar cells. The transgene was specifically expressed in Purkinje cells in the postnatal cerebellum.

CD36 is indispensable for thermogenesis under conditions of fasting and cold stress.

Hypothermia can occur during fasting when thermoregulatory mechanisms, involving fatty acid (FA) utilization, are disturbed. CD36/FA translocase is a membrane protein which facilitates membrane transport of long-chain FA in the FA consuming heart, skeletal muscle (SkM) and adipose tissues. It also accelerates uptake of triglyceride-rich lipoprotein by brown adipose tissue (BAT) in a cold environment.

Protein-tyrosine phosphatase Shp2 positively regulates macrophage oxidative burst.

Macrophages are vital to innate immunity and express pattern recognition receptors and integrins for the rapid detection of invading pathogens. Stimulation of Dectin-1 and complement receptor 3 (CR3) activates Erk- and Akt-dependent production of reactive oxygen species (ROS). Shp2, a protein-tyrosine phosphatase encoded by Ptpn11, promotes activation of Ras-Erk and PI3K-Akt and is crucial for hematopoietic cell function; however, no studies have examined Shp2 function in particulate-stimulated ROS production.

Cytological findings for the diagnosis of primary thyroid mucosa-associated lymphoid tissue lymphoma by fine needle aspiration.

Objective: We examined cytological findings for the diagnosis of primary thyroid mucosa-associated lymphoid tissue (MALT) lymphoma by fine needle aspiration.

Study Design: During the study period of 4 years, a total of 101 cases including 51 MALT lymphomas, 20 Hashimoto's thyroiditis (HT), and 30 diffuse large-cell B-cell lymphomas were cytologically examined. MALT lymphomas were divided into 44 common MALT and 7 MALT lymphomas with extreme plasmacytic differentiation (MALT-EPCD).

The role of circulating lipoprotein lipase and adiponectin on the particle size of remnant lipoproteins in patients with diabetes mellitus and metabolic syndrome.

Background: The factors regulating particle size of remnant lipoproteins (RLPs) in type 2 diabetes (T2DM) and metabolic syndrome (MetS) cases have not been well elucidated.

Methods: T2DM, MetS and healthy controls with and without a fatty liver were studied. Remnant lipoprotein (RLP)-cholesterol (RLP-C) and RLP-triglyceride (RLP-TG), small dense LDL-cholesterol (sdLDL-C), lipoprotein lipase (LPL), hepatic triglyceride lipase (HTGL) and adiponectin concentrations were measured in the fasting pre-heparin plasma.

Activation of the prefrontal cortex while performing a task at preferred slow pace and metronome slow pace: a functional near-infrared spectroscopy study.

Individuals have a preferred pace at which they perform voluntary repetitive movements. Previous studies have reported that greater activation of the prefrontal cortex was observed during self-initiated movements than during externally triggered movements. The purpose of the present study is to compare the activation of the prefrontal cortex induced when the subjects performed a peg-board task at their preferred slow pace (PSP, the self-initiated condition) with that induced when they performed the same task at metronome slow pace (MSP, the externally triggered condition) using functional near-infrared spectroscopy.

The effect of autogenic training on salivary immunoglobulin A in surgical patients with breast cancer: a randomized pilot trial.

Psychological stress among breast cancer patients can inhibit immune function and contribute to disease progression. We investigated the effects of autogenic training (AT), a relaxation method for reducing stress, on salivary immunoglobulin A (sIgA) in breast cancer surgery patients. Thirty patients scheduled to undergo breast cancer surgery were randomly assigned to an AT or control group (usual care).

Small dense LDL cholesterol measured by homogeneous assay in Japanese healthy controls, metabolic syndrome and diabetes patients with or without a fatty liver.

Background: Serum small dense LDL-cholesterol (sdLDL-C) levels in healthy controls and the cases with diabetes (T2DM) and metabolic syndrome (MetS) with or without a fatty liver in a large, typical Japanese population was determined.

Methods: The plasma lipids and lipoproteins, including sdLDL-C by homogeneous assay, were determined in controls, MetS and T2DM patients (n=5255). The cases with MetS and preliminary MetS (pre-MetS) as well as T2DM and preliminary T2DM (pre-DM) were selected based on the Japanese criteria for MetS and T2DM.

Antiplasmodial properties of kaempferol-3--rhamnoside isolated from the leaves of against chloroquine-resistant .

Previous intervention studies have shown that the most effective agents used in the treatment of malaria were isolated from natural sources. Plants consumed by non-human primates serve as potential drug sources for human disease management due to the similarities in anatomy, physiology and disease characteristics. The present study investigated the antiplasmodial properties of the primate-consumed plant, ( Korth.

Role of the protein tyrosine phosphatase Shp2 in homeostasis of the intestinal epithelium.

Protein tyrosine phosphorylation is thought to be important for regulation of the proliferation, differentiation, and rapid turnover of intestinal epithelial cells (IECs). The role of protein tyrosine phosphatases in such homeostatic regulation of IECs has remained largely unknown, however. Src homology 2-containing protein tyrosine phosphatase (Shp2) is a ubiquitously expressed cytoplasmic protein tyrosine phosphatase that functions as a positive regulator of the Ras-mitogen-activated protein kinase (MAPK) signaling pathway operative downstream of the receptors for various growth factors and cytokines, and it is thereby thought to contribute to the regulation of cell proliferation and differentiation.