Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family.

Gorham-Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a somatic mutation in . However, in the present study, we encountered a case of GSD from a consanguineous family member.

Usefulness of a newly developed endoscope for the observation of the posterior tracheal wall.

Objective: Videoendoscopic evaluation of swallowing is an objective swallowing function evaluation method used in dysphagia rehabilitation. However, it is anatomically difficult to detect the entry of foreign substances through the posterior tracheal wall using a conventional endoscope (CE). In this study, we developed an endoscope that can observe the posterior tracheal wall and investigated its reliability and validity in healthy adults.

Establishment of mouse line showing inducible priapism-like phenotypes.

Purpose: Penile research is expected to reveal new targets for treatment and prevention of the complex mechanisms of its disorder including erectile dysfunction (ED). Thus, analyses of the molecular processes of penile ED and continuous erection as priapism are essential issues of reproductive medicine.

Methods: By performing mouse N-ethyl-N-nitrosourea mutagenesis and exome sequencing, we established a novel mouse line displaying protruded genitalia phenotype (PGP; priapism-like phenotype) and identified a novel gene mutation for PGP.

An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with pneumonia: A case report.

pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms. Genetic counseling is crucial for incontinentia pigmenti families in advance of pregnancy because lethal infections can occur before the diagnosis of X-linked anhidrotic ectodermal dysplasia with immunodeficiency.

A case of COVID-19 with the atypical CT finding.

COVID-19 usually demonstrates the specific pattern of chest CT findings (GGO, inverted-halo sign, etc). However, some COVID-19 cases show atypical CT findings. Physicians should make comprehensive judgments.

Vasoactive Intestinal Peptide Derived From Liver Mesenchymal Cells Mediates Tight Junction Assembly in Mouse Intrahepatic Bile Ducts.

Formation of intrahepatic bile ducts (IHBDs) proceeds in accordance with their microenvironment. Particularly, mesenchymal cells around portal veins regulate the differentiation and ductular morphogenesis of cholangiocytes in the developing liver; however, further studies are needed to fully understand the arrangement of IHBDs into a continuous hierarchical network. This study aims to clarify the interaction between biliary and liver mesenchymal cells during IHBD formation.

Eruption disturbance caused by an odontoma that was partially attached to the crown of the adjacent maxillary first molar, and step lesion excavation for the tooth preservation: A case report.

Despite the partial attachment of a complex odontoma to an impacted tooth, it is possible to guide the tooth to erupt normally and preserve it by step lesion excavation and the prevention of infection.

Random-start ovarian stimulation with aromatase inhibitor for fertility preservation in women with Japanese breast cancer.

Purpose: Fertility preservation is an important issue for young cancer patients. Random-start controlled ovarian stimulation and double ovarian stimulation have been proposed for efficient oocyte retrieval within the limited time before cancer therapy. We aimed to clarify the efficacy of these new protocols within the Japanese population.

Effects of cardiopulmonary bypass on the disposition of cefazolin in patients undergoing cardiothoracic surgery.

The aim of the study was to evaluate the disposition of plasma unbound cefazolin in patients undergoing cardiothoracic surgery with cardiopulmonary bypass (CPB). Adult patients undergoing cardiothoracic surgery with CPB were enrolled in the study. Cefazolin sodium was given intravenously before skin incision (1 g) and at the beginning of CPB (2 g).