Publications by authors named "Nobuko Yamamoto"

Article Synopsis
  • Congenital cytomegalovirus (cCMV) infection is the most prevalent congenital infection in developed nations, and while there’s no established standard therapy yet, management evidence is growing.
  • The first edition of the "Clinical Practice Guidelines for the Management of Congenital Cytomegalovirus Infection" was published in Japan in 2023, outlining key clinical questions related to cCMV.
  • The guidelines cover 20 clinical questions on aspects like prenatal risk assessment, diagnosis, treatment, and follow-up, along with recommendations and consensus rates to aid healthcare providers in managing cCMV patients.
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Purpose: Whole-body silicon photomultiplier positron emission tomography (WB SiPM PET) could be used to diagnose breast cancer spread before lumpectomy. We aimed to investigate the method of measuring the tumor size by WB SiPM PET as a basis for diagnosing breast cancer spread in the breast.

Materials And Methods: We retrospectively reviewed 35 breast cancer lesions in 32 patients who underwent WB SiPM PET/CT in the prone position as preoperative breast cancer examinations from September 2020 to March 2022.

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MPZL2-related hearing loss is a rare form of autosomal recessive hearing loss characterized by progressive, mild sloping to severe sensorineural hearing loss. Thirty-five previously reported patients had biallelic truncating variants in MPZL2, with the exception of one patient with a missense variant of uncertain significance and a truncating variant. Here, we describe the clinical characteristics and genotypes of five patients from four families with confirmed MPZL2-related hearing loss.

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Background: The risk of coronary artery disease in peripheral arterial disease (PAD) is high, life prognosis is poor, and lipid-lowering treatment with statins has been reported to improve prognosis. In clinical practice, however, hypolipidemia is more common in patients with severe PAD and statin prescription rates appear to be low, but specific data are scarce in Japan. Therefore, we conducted this cross-sectional study in collaboration with other centers of vascular surgery to determine the rate of statin prescriptions for PAD patients in real-world practice, the rate of achievement of low-density lipoprotein (LDL) cholesterol control targets, and whether statin non-use is a determinant factor of critical limb ischemia (CLI).

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Objective: To evaluate factors influencing the diagnostic yield of comprehensive gene panel testing (CGPT) for hearing loss (HL) in children and to understand the characteristics of undiagnosed probands.

Study Design: This was a retrospective cohort study of 474 probands with childhood-onset HL who underwent CGPT between 2016 and 2020 at a single center. Main outcomes and measures included the association between clinical variables and diagnostic yield and the genetic and clinical characteristics of undiagnosed probands.

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Article Synopsis
  • Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder marked by a variety of symptoms including growth delays, upper limb issues, and other systemic problems, primarily caused by mutations in specific genes associated with the cohesin complex.
  • The majority of CdLS cases (over 60%) are linked to mutations in the NIPBL gene, which leads to the most severe form of the syndrome; other cohesin gene mutations typically result in milder symptoms.
  • The study analyzed the genetic factors in 716 individuals with CdLS to better understand the contributions of cohesin complex genes and identify potential new candidate genes, improving knowledge of genetic variations and their effects on CdLS manifestations.
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We present a case of a 35-year-old woman with breast cancer in lactation 3 months after childbirth, in which a lactation inhibitor was useful for 18F-FDG PET/CT examination. Via ultrasonography and biopsy with histopathology, we diagnosed the lesion in the upper region of the left breast as invasive ductal carcinoma. She stopped breastfeeding and was administered cabergoline to suppress lactation.

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A 68-year-old man with chronic limb-threatening ischemia caused by atypical vasculitis was successfully treated by the combination of pedal arch angioplasty and dual distal bypass. Angioplasty alone failed; therefore, we performed pedal arch angioplasty followed by distal bypass revascularized to the newly created dorsalis pedis artery and posterior tibial artery anastomosis sites. Restenosis occurred twice, and both cases were successfully treated by immediate angioplasty.

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: The perfusion index (PI) is a physiological marker for evaluating the peripheral circulation. We explored the possibility of using PI as a screening tool for development of critical limb ischemia in peripheral artery disease (PAD). : We measured the PI in 79 limbs of 70 PAD patients.

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Objective: To propose a simple grading of inner ear malformation (IEM) and investigate intracochlear electrical auditory brainstem response (EABR) and outcomes for hearing in terms of the novel grading system.

Study Design: Retrospective case review.

Setting: Tertiary referral center.

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Hypothesis: The phenotype of DFNA11 consists of specific features at diverse developmental and age stages.

Background: Only eight mutations have been identified for autosomal dominant non-syndromic hearing loss related to MYO7A (DFNA11), and the onset and progression of DFNA11 are poorly understood.

Methods: After linkage analysis and following Sanger sequencing in a family suspected to have autosomal dominant hereditary hearing loss, we analyzed the audiometric and vestibular functions and their long-term changes in the subjects carrying the variant.

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Digital breast tomosynthesis (DBT) is a new modality that assists in detection of breast cancer. However, benign masses are also detected more easily by DBT and may require further workup. This article reviews typical imaging features of non-calcified benign masses on DBT.

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Objectives/hypothesis: Vocal fold polyps and nodules are common benign laryngeal lesions. Currently, the Japanese health insurance system covers surgical interventions. However, the establishment of more cost-effective conservative methods is required, because healthcare costs are viewed as a major concern, and the government and taxpayers are demanding more economical, effective treatments.

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Schwanomatosis is the third most common form of neurofibromatosis. Schwanomatosis affecting the vagus nerve is particularly rare. In this report, we describe an extremely rare case bilateral vagus nerve schwanomatosis in a 45-year-old male patient.

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Background: To date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency sensorineural hearing loss (MFSNHL), among which TECTA is the most frequently reported; however, the prevalence of TECTA mutations is unknown. To elucidate the prevalence of TECTA mutation in MFSNHL and clarify genotype-phenotype correlations, we analyzed the genetic and clinical features of patients with MFSNHL.

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Background: Vestibular rehabilitation is useful to alleviate chronic dizziness in patients with vestibular dysfunction. It aims to induce neuronal plasticity in the central nervous system (especially in the cerebellum) to promote vestibular compensation. Transcranial cerebellar direct current stimulation (tcDCS) reportedly enhances cerebellar function.

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Background: Some iterative reconstruction algorithms are useful for reducing the radiation dose in pediatric cardiac CT. A new iterative reconstruction algorithm (forward-projected model-based iterative reconstruction solution) has been developed, but its usefulness for radiation dose reduction in pediatric cardiac CT is unknown.

Objective: To investigate the effect of the new algorithm on CT image quality and on radiation dose in pediatric cardiac CT.

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Objective: To evaluate the relationship between preoperative severity of coronary stenosis occurring with fractional flow reserve (FFR), and the intraoperative bypass graft flow pattern.

Methods: In all, 72 patients were enrolled in this retrospective study. The FFR value of the left anterior descending artery was evaluated, and data on "in situ" bypass grafting from the internal thoracic artery to the left anterior descending artery were assessed.

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RNA external standards, although important to ensure equivalence across many microarray platforms, have yet to be fully implemented in the research community. In this article, a set of unique RNA external standards (or RNA standards) and probe pairs that were added to total RNA in the samples before amplification and labeling are described. Concentration-response curves of RNA external standards were used across multiple commercial DNA microarray platforms and/or quantitative real-time polymerase chain reaction (RT-PCR) and next-generation sequencing to identify problematic assays and potential sources of variation in the analytical process.

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Objective: Salivary duct carcinoma is a rare and aggressive tumor of the salivary glands. The objectives of this study were to investigate the clinicopathological features of salivary duct carcinoma and to determine whether androgen deprivation therapy should be recommended.

Study Design And Methods: The clinical records of seven patients diagnosed with salivary duct carcinoma between 2002 and 2012 were retrospectively assessed.

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Purpose: The purpose of this study was to assess indications for stereotactic vacuum-assisted breast biopsy (SVAB) evaluated by breast 3 T-magnetic resonance (3 T-MR) imaging in patients showing suspicious microcalcifications on mammography and negative ultrasound (US) findings.

Methods And Materials: Fifty-five patients with 55 breast lesions showing suspicious microcalcifications on mammography and negative US findings underwent preoperative 3 T-MR examination including dynamic MR imaging. All patients underwent SVAB within 1 month of MR imaging.

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Large cell neuroendocrine carcinoma (LCNEC) of the salivary gland is extremely rare. We report on a case of LCNEC in the submandibular gland. A 58-year-old male had a four-month history of an enlarging mass in his left submandibular region.

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A girl, aged 19 months, presented with a sacrococcygeal tumor that developed at 5 months after birth and gradually enlarged. Serum tumor marker levels were negative. Ultrasound imaging showed abundant blood flow in the tumor.

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We investigated relationships between the flowering phenology of Prunus yedoensis "Somei-yoshino" (cherry blossom) and the local temperatures in Japan. Our observations were carried out across the Okayama Plain, which included Okayama City (about 700,000 inhabitants), from the winter of 2008 to the spring of 2009. Local air temperature (AT) and the globe temperature (GT) were recorded at the tree height.

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Purpose: Among diabetes mellitus type 2 (DM2) patients, the frequency of cognitive dysfunction is higher and the relative risk of Alzheimer's disease (AD) is approximately twice that of nondiabetics. Cognitive impairment symptoms of AD are induced by limbic system dysfunction, and an early-stage AD brain without dementia has the potential for atrophy in the hippocampal region. In this study, we estimated potential hippocampal region atrophy in DM2 and pursued the association between DM2 and cognitive impairment/AD.

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