Clinical and genetic characteristics of patients with Doose syndrome.

Objective: To elucidate the genetic background and genotype-phenotype correlations for epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy (MAE) or Doose syndrome.

Methods: We collected clinical information and blood samples from 29 patients with MAE. We performed whole-exome sequencing for all except one MAE case in whom custom capture sequencing identified a variant.

Experience With 0.1% Tacrolimus Eye Drop for Noninfectious, Non-necrotizing Anterior Scleritis.

Objectives: To report experience with 0.1% tacrolimus eye drops in the treatment of noninfectious, non-necrotizing anterior scleritis.

Methods: This prospective, single-arm study included nine patients (4 men and 5 women; mean age=59.

IL-8 and LYPD8 expression levels are associated with the inflammatory response in the colon of patients with ulcerative colitis.

Ulcerative colitis (UC) is an idiopathic chronic inflammatory disorder affecting the large intestine, which may involve mucosal degeneration. Glycoproteins, mucin2 (MUC2) and the LY6/PLAUR domain containing 8 (LYPD8) are present on the mucous layer of the colon and can hinder the invasion of bacteria, thus contributing to the prevention of colitis. The present study investigated the expression levels of interleukin-8 (IL-8), MUC2 and LYPD8 on the mucous membranes of patients with UC.

Neurological Prognostic Value of Adjusted Ca Concentration in Adult Patients with Out-of-Hospital Cardiac Arrest.

Many patients are transferred to hospital due to out-of-hospital cardiac arrest (OHCA), and, unfortunately, most suffer from cerebral damage. Currently, it is difficult to predict the recovery of neurological function after return of spontaneous circulation (ROSC) in the acute phase. Increased intracellular Ca induces cell death in the acute phase.

IGF2 Mutations.

Objective: IGF2 is a paternally expressed growth-promoting gene. Here, we report five cases with IGF2 mutations and review IGF2 mutation-positive patients described in the literature. We also compare clinical features between patients with IGF2 mutations and those with H19/IGF2:IG-DMR epimutations.

Successful reduction of ACTH secretion in a case of intractable Cushing's disease with pituitary Crooke's cell adenoma by combined modality therapy including temozolomide.

Crooke's cell adenoma (CCA) is an aggressive subtype of corticotroph adenoma; however, CCA is associated with a high incidence of low expression of methyl guanine methyl transferase (MGMT), suggesting that temozolomide (TMZ) treatment might be effective for this tumor type. The case of a 56-year-old woman with Cushing's disease caused by a pituitary CCA is presented. At the age of 38 years, the patient presented to our hospital with polyuria and a visual field defect.

Low-density lipoprotein receptor expression is involved in the beneficial effect of photodynamic therapy using talaporfin sodium on gastric cancer cells.

Photodynamic therapy (PDT) is a therapeutic method used to destroy tumor tissue via reactive oxygen. Notably, reactive oxygen is induced by a combination of photosensitizers, including talaporfin sodium (TS) and laser light. Gastric cancer cell lines, MKN45 and MKN74, were used to evaluate the effect of TS-PDT .

EGFR Mutations Compromise Hypoxia-Associated Radiation Resistance through Impaired Replication Fork-Associated DNA Damage Repair.

EGFR signaling has been implicated in hypoxia-associated resistance to radiation or chemotherapy. Non-small cell lung carcinomas (NSCLC) with activating L858R or ΔE746-E750 EGFR mutations exhibit elevated EGFR activity and downstream signaling. Here, relative to wild-type (WT) EGFR, mutant (MT) EGFR expression significantly increases radiosensitivity in hypoxic cells.

A case of lung abscess successfully treated by transbronchial drainage using a guide sheath.

A 51-year-old man was diagnosed with colon cancer in September 2011, and a solitary pulmonary nodule was detected by computed tomography (CT) scan. We performed a transbronchial biopsy with endobronchial ultrasonography using a guide sheath (GS) and diagnosed lung metastasis of colon cancer. The patient experienced remittent fever after the biopsy in spite of intravenous antibiotic therapies.

Multiple expression cassette exchange via TP901-1, R4, and Bxb1 integrase systems on a mouse artificial chromosome.

The site-specific excision of a target DNA sequence for genetic knockout or lineage tracing is a powerful tool for investigating biological systems. Currently, site-specific recombinases (SSRs), such as Cre or Flp recombination target cassettes, have been successfully excised or inverted by a single SSR to regulate transgene expression. However, the use of a single SSR might restrict the complex control of gene expression.

Progressive Brain Atrophy in Alternating Hemiplegia of Childhood.

Background: Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder that includes involuntary movements, paroxysmal symptoms, and various severities of nonparoxysmal symptoms.

Objective: To investigate the occurrence of structural brain abnormalities in patients with AHC during clinical courses.

Methods: Conventional brain magnetic resonance imaging findings and clinical courses were retrospectively investigated in 14 patients with AHC confirmed by mutations.

Prevalence of progressive supranuclear palsy in Yonago: change throughout a decade.

Background: Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is sometimes confused with Parkinson's disease, multiple system atrophy, and other disorders. The typical clinical features are categorized as Richardson's syndrome (RS), but other clinical subtypes include PSP-parkinsonism (PSP-P) and PSP-pure akinesia with gait freezing (PSP-PAGF). In this study, we determined the prevalence of PSP in a Japanese rural area compared to our previous 1999 report.

Child ego state is associated with high prevalence of repeated hospitalizations in patients with heart failure.

Aims: Inadequate self-care management is a leading cause of re-hospitalization in patients with heart failure (HF). Psychological factors such as some ego functions interfere with self-care behaviour modification, leading to poor outcomes in patients with several chronic diseases. However, characteristics of ego states in patients with repeated hospitalization for HF remain undefined.

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.

Objective: Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothesized to offer a new strategy for treating the neurological manifestations of this disease.

Clinical management of endometriosis-associated infertility.

Endometriosis is a common chronic benign disease that affects reproductive age women and causes chronic pelvic pain and infertility. Despite its prevalence, the exact mechanisms of the pathogenesis of endometriosis-associated infertility are unknown, and precise standards of management have not yet been established. Medical and surgical treatments for endometriosis have different effects on the chance of conception, either spontaneously or via assisted reproductive technologies (ART).

Mechanical evaluation of newly developed mouthpiece using polyethylene terephthalate glycol for transoral robotic surgery.

Transoral robotic surgery (TORS), performed with the da Vinci surgical system (da Vinci), has been classified as a surgical approach for benign and malignant lesions of the oral cavity and laryngopharynx. It provides several unique advantages, which include a three-dimensional magnified view, ability to see and work around curves or angles, and the availability of two or three robotic arms. At present, however, the da Vinci surgical system does not provide haptic feedback.

Multiple elements for negative regulation of the rat catalase gene expression in dedifferentiated hepatoma cells.

Like such hepatic genes as those for albumin and aldolase B, the rat catalase gene shows markedly reduced expression in carcinogenesis of hepatocytes. Strong silencer activity has been widely observed in the 5'-flanking region of the gene, downstream from the G-rich sequence identified in a previous study. In this study, we identified and characterized multiple elements involved in negative regulation of catalase gene expression by reporter assay and gel shift assay.

Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria.

Acute intermittent porphyria (AIP) is an inherited disorder characterized by a deficiency of hydroxymethylbilane synthase (EC 4.3.1.

Plasma collagen-binding vitronectin activated by heparin and dextran sulfate in chronic liver disease.

Plasma collagen-binding vitronectin was assayed in 62 patients with chronic liver disease and 14 healthy control subjects. It was measured by an enzyme immunoassay using type I collagen and monoclonal antibody to vitronectin before and after treatment with heparin or dextran sulfate in vitro. The pretreatment level of plasma collagen-binding vitronectin (mean +/- S.

Plasma vitronectin concentrations in patients with chronic hepatitis C treated with interferon alpha.

Plasma vitronectin concentration was measured in 60 patients with chronic hepatitis C before and after interferon alpha treatment. The plasma pretreatment levels of vitronectin in the interferon non-responders was significantly lower than those in the interferon sustained and transient responders, but the levels were not different in the latter two groups. After interferon therapy, the plasma levels of vitronectin were significantly increased in all three groups, and they were correlated with the albumin levels.