CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders.

Repeat expansion disorders, exemplified by myotonic dystrophy type 1 (DM1), present challenges in diagnostic quantification because of the variability and complexity of repeat lengths. Traditional diagnostic methods, including PCR and Southern blotting, exhibit limitations in sensitivity and specificity, necessitating the development of innovative approaches for precise and rapid diagnosis. Here, we introduce a CRISPR-based diagnostic method, REPLICA (peat-rimed ocating of nherited disease by s3), for the quantification and rapid diagnosis of DM1.

Predominance of T-bet-positive Th1 cells in infiltrating T-lymphocytes in most of active arteritis lesions of giant cell arteritis.

Immunological mechanisms through the activation of CD4-positive T-cells have been assumed to be involved in the pathogenesis of giant cell arteritis (GCA). Many studies employing frozen tissues of temporal artery biopsy, peripheral blood lymphocytes, and plasma of GCA patients have revealed the contribution of interferon-γ and interleukin-17 in both protein and mRNA levels. However, the analyses using formalin-fixed and paraffin-embedded (FFPE) tissue specimens, in which the correlation between histopathologic pictures and immunological circumstances would be elucidated, have been limited.

A case of urinary bladder metastasis of hepatocellular carcinoma following use of immunotherapy/tyrosine kinase inhibitor.

Introduction: Here we present a rare case of hepatocellular carcinoma metastasis to the urinary bladder in a patient with metastatic HCC.

Case Presentation: An 83-year-old man developed gross hematuria during combined treatment with an anti-programmed death-ligand 1 inhibitor and an anti-vascular endothelial growth factor for metastatic HCC. A contrast-enhanced CT revealed a 15 × 15 mm soft tissue mass protruding from the posterior bladder wall.

Lack of human relevance for rat developmental toxicity of flumioxazin is revealed by comparative heme synthesis assay using embryonic erythroid cells derived from human and rat pluripotent stem cells.

Fetal rat anemia from flumioxazin, an N-phenylimide herbicide, is caused by suppression of heme synthesis resulting from inhibition of protoporphyrinogen oxidase (PPO). A series of studies to investigate the effects of flumioxazin have revealed that developmental toxicity is caused in rats but not in rabbits, and the adverse effects are not likely to occur in humans. In this study, as a final weight-of-evidence approach for assessing the human safety of flumioxazin, we compared the toxic potential of inhibition of heme synthesis leading to anemia between human and rat embryonic erythroid cells, which were degenerated as the target of flumioxazin in the rat developmental toxicity.

Flumioxazin, a PPO inhibitor: A weight-of-evidence consideration of its mode of action as a developmental toxicant in the rat and its relevance to humans.

Flumioxazin, is a herbicide that has inhibitory activity on protoporphyrinogen oxidase (PPO), a key enzyme in the biosynthetic pathway for heme. Flumioxazin induces anemia and developmental toxicity in rats, including ventricular septal defect and embryofetal death. Studies to elucidate the mode of action (MOA) of flumioxazin as a developmental toxicant and to evaluate its relevance to humans have been undertaken.

Alpha-Fetoprotein-Producing Early Gastric Cancer with Intramucosal Hepatoid and Fetal Enteric Differentiation.

Alpha-fetoprotein (AFP)-producing gastric carcinomas (AFPGCs) are relatively rare tumors known to have a poor prognosis and commonly found as advanced lesions. Histologically, AFPGCs have been described as having hepatoid and fetal enteric (enteroblastic) morphology and are associated with conventional adenocarcinomas. Prior studies reported a hepatoid component present only in invasive areas and hypothesized that AFPGCs may develop hepatoid features during the process of tumor invasion.

[Identification of the Risk Factors for Cabazitaxel-Induced Neutropenia with Preventive Administration of Pegfilgrastim].

Prophylaxis using pegfilgrastim is recommended to prevent cabazitaxel-induced neutropenia. We observed GradeB3 neutropenia in a patient after administration of cabazitaxel, despite prophylaxis using pegfilgrastim. To identify the risk factors associated with GradeB3 neutropenia, we retrospectively investigated the records of 10 patients who received prophylaxis with pegfilgrastim after administration of cabazitaxel.

Total dosage of gardenia fruit used by patients with mesenteric phlebosclerosis.

Background: Mesenteric phlebosclerosis (MP) is a disease characterized by fibrotic change or calcification of the mesenteric vein. Recently, there has been an increase in case reports of MP related to herbal medicine usage. Long-term intake of gardenia fruit (GF) is suspected as a possible cause.

Clinical Search for Undiagnosed Mesenteric Phlebosclerosis at Outpatient Departments Specializing in Herbal (Kampo) Medicine.

Objective: Mesenteric phlebosclerosis (MP) is a disease characterized by calcification of the mesenteric vein, which causes chronic mesenteric ischemia. Recently, the long-term intake of gardenia fruit ('Sanshishi' in Japanese) has been attracting attention as a possible cause. Usually, only advanced, severe MP cases get reported.

Optical parametric gain and bandwidth in highly nonlinear tellurite hybrid microstructured optical fiber with four zero-dispersion wavelengths.

The parametric amplification gain and bandwidth in highly nonlinear tellurite hybrid microstructured optical fiber (HMOF) are simulated based on four wave mixing process. The fiber core and cladding materials are made of TeO(2)–Li(2)O–WO(3)–MoO(3)–Nb(2)O(5) and TeO(2)–ZnO–Na(2)O–P(2)O(5) glass, respectively. The fiber has four zero-dispersion wavelengths and the chromatic dispersion is flattened near the zerodispersion wavelengths.

[The prevalence of hypertension after adrenalectomy in patients with primary aldosteronism].

The cure rate of hypertension after surgery for primary aldosteronism (PA) was assessed in a single institution. In the present study, we studied the risk factors on the cure rate of hypertension after surgery in patients with PA. Thirty-five patients who underwent surgery for PA between January 2004 and December 2009, with a follow-up time of 1 year or longer were studied.

Pathophysiology of urinary incontinence in murine models.

Urethral closure mechanisms under stress conditions consist of passive urethral closure involving connective tissues, fascia and/or ligaments in the pelvis and active urethral closure mediated by hypogastric, pelvic and pudendal nerves. Furthermore, we have previously reported that the active urethral closure mechanism might be divided into two categories: (i) the central nervous control passing onto Onuf's nucleus under sneezing or coughing; and (ii) the bladder-to-urethral spinal reflex under Valsalva-like stress conditions, such as laughing, exercise or lifting heavy objects. There are over 200 million people worldwide with urinary incontinence, a condition that is associated with a significant social impact and reduced quality of life.

Hematogenous extraneural metastasis of the germinomatous component of a pineal mixed germ cell tumor.

A 23-year-old man presented with a mass in the pineal region and obstructive hydrocephalus. A neuroendoscopicbiopsy for the lesion, ventriculoperitoneal (VP)shunting, and focal irradiation were conducted as initial treatment. Histological diagnosis of the biopsy specimen was germinoma.

Time-dependent changes in bladder function and plantar sensitivity in a rat model of fibromyalgia syndrome induced by hydrochloric acid injection into the gluteus.

Objective: To examine the correlation between muscular pain and bladder hypersensitivity in order to clarify the pathogenesis of comorbidity of bladder pain syndrome/interstitial cystitis with other chronic pain conditions such as fibromyalgia syndrome (FMS).

Materials And Methods: Under isoflurane anaesthesia, 0.2 mL of hydrochloric acid (HCl) solution (pH 4.

Urethral compensatory mechanisms to maintain urinary continence after pudendal nerve injury in female rats.

Introduction And Hypothesis: This study was conducted to investigate the urethral compensatory mechanisms to maintain urinary continence after pudendal nerve injury.

Methods: In naive, acute pudendal nerve transection (PNT) and 4 weeks after PNT (PNT-4w) female rats, leak point pressures (LPPs) during bladder compression were measured before and after the application of hexamethonium (C6), propranolol, and N (ω)-nitro-L: -arginine-methyl ester (L: -NAME), or terazosin and atropine. Responses to carbachol and phenylephrine of proximal and middle urethral muscle strips from naive and PNT-4w rats were also examined.

Full-thickness chest-wall resection followed by thorax reconstruction for recurrent malignant phyllodes tumor.

We present a case of a 39-year-old woman with a giant recurrent malignant phyllodes tumor accompanied with bleeding and infection. She underwent full-thickness chest-wall resection. Bony thorax reconstruction and stabilization was accomplished using a Composix mesh™, and soft tissue reconstruction was performed with a musculocutaneous flap of latissimus dorsi muscle.

Role of alpha2-adrenoceptors and glutamate mechanisms in the external urethral sphincter continence reflex in rats.

Purpose: We investigated the role of alpha(2)-adrenoceptors and glutamate mechanisms in the urethral continence reflex in response to abdominal pressure increases.

Materials And Methods: Under urethane anesthesia external urethral sphincter electromyogram activity was evaluated in spinal cord transected (T8-T9) female rats during lower abdominal wall compression before and after intravenous application of test drugs. The effects of the N-methyl-D-aspartate glutamate receptor antagonist MK-801 (Sigma) or the alpha(2)-adrenoceptor agonist medetomidine (Tocris Cookson, Ellisville, Missouri) (each 0.

A rare case of a tracheal fibroepithelial polyp treated by an endobronchial resection.

This report describes a very rare case of a tracheal fibroepithelial polyp. A 69-year-old male had been treated in this department because of chronic obstructive pulmonary disease since 2006. In July 2007, chest computed tomography revealed a bronchial tumor located at the distal end of the trachea.

Psychological support for junior high school students: sibling order and sex.

This study is a re-analysis of published data on psychological support for 609 junior high school students (317 boys, 292 girls, mean age = 14.1, SD = 0.8) based on the self-report, Psychological Support Scale, to evaluate sibling order as eldest or youngest and sex.

[Primary, nonviral, hepatocellular carcinoma in patients with prostate cancer treated by hormone therapy: 2 case reports].

We studied two cases of primary, hepatocellular carcinoma (HCC) that occurred following hormone therapy (estrogen therapy in one case and total androgen blockade therapy in another) for stage D2 prostate cancer. Prostate cancer is considered to be hormone-dependent, and androgens appear to be important hormonal factors. However, hepatocellular carcinoma has been shown to have both estrogen and androgen receptors, suggesting that this may be dependent on estrogen or androgen.

Adenoviral infection of survivin antisense sensitizes prostate cancer cells to etoposide in vivo.

Background: We aimed to investigate whether use of a survivin antisense fragment carried by an adenovirus vector (Ad.survivin-AS) could enhance the therapeutic efficacy of chemotherapy for androgen-independent prostate cancer.

Methods: We used Ad.

[Invasive squamous cell carcinoma of the bladder: report of 18 cases and review of literature].

Purpose: This study was undertaken to determine the most effective treatment for improvement of the prognosis of patients with squamous cell carcinoma of the bladder (SCC).

Materials And Methods: The subjects included 18 cases of invasive SCC (T2 or worse) we have experienced in the past 10 years. While clarifying the clinical patterns of these cases, the association between stage, therapy, and prognosis was studied.

Antisense oligodeoxynucleotide against HST-1/FGF-4 suppresses tumorigenicity of an orthotopic model for human germ cell tumor in nude mice.

Background: Overexpression of the fibroblast growth factor HST-1/FGF-4 gene is thought to mediate growth properties and malignancy in human testicular germ cell tumors. We have studied the effect that an antisense oligodeoxynucleotide against HST-1/FGF-4 suppresses tumorigenicity of a human germ cell tumor.

Methods And Results: To test whether HST-1/FGF-4 could be the target of gene therapy for testicular carcinoma, 20-mer phosphorothioate oligodeoxynucleotides (ODNs) directed against human HST-1/FGF-4 were analyzed for their antitumor activity.

Clinical studies on inverted papilloma of the urinary tract: report of 48 cases and review of the literature.

Purpose: We report on 48 clinicopathologic cases of inverted papilloma and present the clinical significance attributed to these lesions in terms of the current literature.

Materials And Methods: From 1976 to 2002 we had experience with 48 cases of inverted papilloma in urinary tract. We present the clinical features of these cases and report the results of prognosis research.