[Introduction of Online Genetic Counseling for Hereditary Tumors Using an Online Medical Consultation Application].

Online medicine has become more common since the COVID-19 pandemic, but there are few cases of hospitals introducing online genetic counseling(OGC)in Japan. We introduced the online medical consultation application at 2 medical institutions for OGC. Genetic counseling for hereditary tumors will need to be broadened and implemented widely.

Lynch Syndrome Screening and Surveillance Trends among Gastroenterologists in Japan: A Questionnaire Survey-based Analysis.

Objective Screening and surveillance methodologies for Lynch syndrome (LS) in Japan. This study assessed the changes in LS knowledge and practice trends. Methods In 2020 and 2022, 2 questionnaire surveys were administered to 3574 councilors of the Japanese Society of Gastroenterology to assess changes in LS-related knowledge and practices.

Chronic Subdural Hematoma after Endoscopic Third Ventriculostomy for Chronic Obstructive Hydrocephalus: A Case Report.

Endoscopic third ventriculostomy (ETV) is a safe treatment option for chronic obstructive hydrocephalus. However, we encountered a case of chronic subdural hematoma (CSDH) with bilateral large hematoma volumes after ETV for chronic obstructive hydrocephalus. We herein report a rare complication of ETV.

Intraparenchymal delivery of adeno-associated virus vectors for the gene therapy of neurological diseases.

Introduction: In gene therapy with adeno-associated virus (AAV) vectors for diseases of the central nervous system, the vectors can be administered into blood vessels, cerebrospinal fluid space, or the brain parenchyma. When gene transfer to a large area of the brain is required, the first two methods are used, but for diseases in which local gene transfer is expected to be effective, vectors are administered directly into the brain parenchyma.

Areas Covered: Strategies for intraparenchymal vector delivery in gene therapy for Parkinson's disease, aromatic l-amino acid decarboxylase (AADC) deficiency, and epilepsy are reviewed.

Case series of Li-Fraumeni syndrome: carcinogenic mechanisms in breast cancer with TP53 pathogenic variant carriers.

Background: Li-Fraumeni syndrome (LFS), a hereditary condition attributed to TP53 pathogenic variants,(PV), is associated with high risks for various malignant tumors, including breast cancer. Notably, individuals harboring TP53 PVs are more likely (67-83%) to develop HER2 + breast cancer than noncarriers (16-25%). In this retrospective study, we evaluated the associations between TP53 variants and breast cancer phenotype.

Risk of metachronous colorectal cancer after surgical resection of index rectal cancer in Lynch syndrome: a multicenter retrospective study in Japan.

Purpose: This study evaluated the risk of metachronous colorectal cancer (CRC) after resection of index (first) rectal cancer in patients with Lynch syndrome (LS).

Methods: Clinicopathological data of patients with genetically proven LS were retrospectively analyzed in this multicenter Japanese study. The cumulative incidence of metachronous CRC and the overall survival were compared between patients with index rectal cancer (rectal group) and those with index colon cancer (colon group).

Genotype-phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) patients develop various life-threatening extracolonic comorbidities that appear individually or within a family. This diversity can be explained by the localization of the adenomatous polyposis coli (APC) variant, but few reports provide definitive findings about genotype-phenotype correlations. Therefore, we investigated FAP patients and the association between the severe phenotypes and APC variants.

Dual-floor Burr Hole Technique Optimized for Modern Burr Hole Caps with an Internal Electrode Locking Mechanism.

Insertion of a deep brain stimulating electrode is a commonly performed procedure. Burr hole caps play an important role in this procedure by immobilizing this electrode; however, burr hole caps could form scalp bumps, which can create further complications. The dual-floor burr hole technique could prevent the formation of scalp bumps.

Higher prefrontal activity based on short-term neurofeedback training can prevent working memory decline in acute stroke.

This study aimed to clarify whether short-term neurofeedback training during the acute stroke phase led to prefrontal activity self-regulation, providing positive efficacy to working memory. A total of 30 patients with acute stroke performed functional near-infrared spectroscopy-based neurofeedback training for a day to increase their prefrontal activity. A randomized, Sham-controlled, double-blind study protocol was used comparing working memory ability before and after neurofeedback training.

Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults.

Background: Peutz-Jeghers syndrome (PJS) is a rare disease characterized by the presence of hamartomatous polyposis throughout the gastrointestinal tract, except for the esophagus, along with characteristic mucocutaneous pigmentation. It is caused by germline pathogenic variants of the STK11 gene, which exhibit an autosomal dominant mode of inheritance. Some patients with PJS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood and sometimes have serious complications that significantly reduce their quality of life.

Augmented Reality in Stereotactic Neurosurgery: Current Status and Issues.

Stereotactic neurosurgery is an established technique, but it has several limitations. In frame-based stereotaxy using a stereotactic frame, frame setting errors may decrease the accuracy of the procedure. Frameless stereotaxy using neuronavigation requires surgeons to shift their view from the surgical field to the navigation display and to advance the needle while assuming a physically uncomfortable position.

Early distribution of F-labeled AAV9 vectors in the cerebrospinal fluid after intracerebroventricular or intracisternal magna infusion in non-human primates.

Background: The delivery of adeno-associated virus (AAV) vectors via the cerebrospinal fluid (CSF) has emerged as a valuable method for widespread transduction in the central nervous system. Although infusion into the cerebral ventricles is a common protocol in preclinical studies of small animals, the cisterna magna has been recognized as an alternative target for clinical studies because it can be reached in a less invasive manner using an intrathecal catheter via the subarachnoid space from a lumbar puncture.

Methods: We evaluated the early distribution of fluorine-18-labeled AAV9 vectors infused into the lateral ventricle or cisterna magna of four non-human primates using positron emission tomography.

Intensive endoscopic resection for downstaging of polyp burden in patients with familial adenomatous polyposis (J-FAPP Study III): a multicenter prospective interventional study.

Background: Total colectomy is the standard treatment for familial adenomatous polyposis (FAP). Recently, an increasing number of young patients with FAP have requested the postponement of surgery or have refused to undergo surgery. We aimed to evaluate the effectiveness of intensive endoscopic removal for downstaging of polyp burden (IDP) in FAP.

Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing.

A 24-year-old woman suspected of Lynch syndrome was found to carry a pathogenic variant, based on germline multigene panel testing (MGPT). The patient was diagnosed with endometrial carcinoma and underwent modified radical hysterectomy, bilateral salpingo-oophorectomy, pelvic lymphadenectomy, and omentectomy at the age of 23. Based on her father's history of colorectal cancer and her history of early onset endometrial cancer, mismatch repair protein immunohistochemistry analysis was performed.

Genotype-phenotype correlation of small-intestinal polyps on small-bowel capsule endoscopy in familial adenomatous polyposis.

Background And Aims: In familial adenomatous polyposis (FAP), neoplastic lesions outside the colon have become increasingly important. The genotype-phenotype correlation has been established for duodenal polyps, and regular screening is recommended. However, this correlation remains unclear for small-intestinal lesions, except for reports on the relationship between their occurrence and Spigelman stage.

Endoscopic features of colorectal lymphoma according to histological type.

Background And Aim: This study aimed to investigate the relationship between the histological type of colorectal lymphoma and its endoscopic features.

Methods: We retrospectively analyzed patients with primary colorectal lymphoma who were diagnosed using colonoscopy and biopsy specimens at the National Cancer Center Hospital, Tokyo, Japan. The lesions were macroscopically classified into the following types via colonoscopy: polypoid, ulcerative, multiple lymphomatous polyposis, diffuse, and mixed.

Intracrine activity involving NAD-dependent circadian steroidogenic activity governs age-associated meibomian gland dysfunction.

Canonically, hormones are produced in the endocrine organs and delivered to target tissues. However, for steroids, the concept of tissue intracrinology, whereby hormones are produced in the tissues where they exert their effect without release into circulation, has been proposed, but its role in physiology/disease remains unclear. The meibomian glands in the eyelids produce oil to prevent tear evaporation, which reduces with aging.