Digenic impairments of haploinsufficient genes in patients with craniosynostosis.

Craniosynostosis (CRS) is characterized by the development of abnormal cranial suture ossification and premature fusion. Despite the identification of several associated genetic disorders, the genetic determinants of CRS remain poorly understood. In this study, we conducted integrative analyses on 225 exomes, comprising 121 CRS probands and 104 parental exomes (52 trios).

Endoscopic Surgery for Deeply Located Intracranial Cysts: Risk Factors for Re-Operation and Symptom Improvement.

Purpose: We investigated the results of endoscopic fenestration for deeply located intracranial cysts (DLICs), risk factors for re-operation, and symptom improvement.

Materials And Methods: We included 51 patients with DLICs who underwent endoscopic fenestration between November 2006 and October 2022. The median age was 5±20 years (6 days-67 years), and 36 (70.

Circadian regulation of endoplasmic reticulum calcium response in cultured mouse astrocytes.

The circadian clock, an internal time-keeping system orchestrates 24 hr rhythms in physiology and behavior by regulating rhythmic transcription in cells. Astrocytes, the most abundant glial cells, play crucial roles in CNS functions, but the impact of the circadian clock on astrocyte functions remains largely unexplored. In this study, we identified 412 circadian rhythmic transcripts in cultured mouse cortical astrocytes through RNA sequencing.

Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies.

RASopathies represent a distinct class of neurodevelopmental syndromes caused by germline variants in the Ras/MAPK pathways. Recently, a novel disease-gene association was implicated in MAPK kinase kinase kinase 4 (MAP4K4), which regulates the upstream signals of the MAPK pathways. However, to our knowledge, only two studies have reported the genotype-phenotype relationships in the MAP4K4-related disorder.

Screening of Moyamoya Disease From Retinal Photographs: Development and Validation of Deep Learning Algorithms.

Background: Moyamoya disease (MMD) is a rare and complex pathological condition characterized by an abnormal collateral circulation network in the basal brain. The diagnosis of MMD and its progression is unpredictable and influenced by many factors. MMD can affect the blood vessels supplying the eyes, resulting in a range of ocular symptoms.

Medical Applications of 3D Printing and Standardization Issues.

The three-dimensional (3D) printing itself is not a novel technology, it is more than 30 years old. Stereolithographic (SLA) technology has been used as the first and popular technology for medical application of 3D printing. Since 1991 and have published articles about SLA for rapid prototyping anatomical 3D models.

Temporary Surgical Management of Intraventricular Hemorrhage in Premature Infants.

Post-hemorrhagic hydrocephalus (PHH) in preterm infant is common, life-threatening and the main cause of bad developmental outcomes. Ventriculoperitoneal (VP) shunt is used as the ultimate treatment for PHH. Low birth weight and low gestational age are the combination of worse prognostic factors while the single most important prognostic factor of VP shunting is age.

Effectiveness of C1 Laminectomy for Chiari Malformation Type 1: Posterior Fossa Volume Expansion and Syrinx-Volume Decrease Rate.

Purpose: This study aimed to analyze the effect of foramen magnum decompression with C1 laminectomy (C1L) for Chiari malformation type 1 (CM-1) in terms of improving clinical symptoms, expanding posterior fossa volume, and decreasing syrinx volume.

Materials And Methods: Between January 2007 and June 2019, 107 patients with CM-1 were included. The median patient age was 13±13 years (range: 9 months-60 years), female-to-male ratio was 1:1, and average length of tonsil herniation was 13±5 mm (range: 5-24 mm).

Inter-Slice Resolution Improvement Using Convolutional Neural Network with Orbital Bone Edge-Aware in Facial CT Images.

The 3D modeling of orbital bones in facial CT images is essential to provide a customized implant for reconstructions of orbit and related structures during surgery. However, 3D models of the orbital bone show an aliasing effect and disconnected thin bone in the inter-slice direction because the slice thickness is two to three times larger than the pixel spacing. To improve the inter-slice resolution of facial CT images, we propose a method based on a 2D convolutional neural network (CNN) that uses the spatial information on the sagittal and axial planes and the orbital bone edge-aware (OBE) loss.

Assessing the effect of antihypertensives on plaque microbiota in patients with periodontitis and hypertension using 16S rRNA sequencing: A cross-sectional study.

Background: Periodontitis is initiated or accelerated by dysbiosis of oral microorganisms. When hypertension is accompanied in periodontitis patients, changes of oral microbiota occur. Since there are no reports on antihypertensives, we assessed their effect on the oral microbial profiles of patients with periodontitis.

Risk and protective factors for a salutogenic sense of health in adolescents with Moyamoya disease.

Purpose: To identify the risk and protective factors affecting a salutogenic sense of health in adolescents with Moyamoya disease based on Antonovsky's salutogenesis theory.

Methods: This study used a qualitative descriptive design. We interviewed adolescents diagnosed with Moyamoya disease and their parents and experts with experience in treating them from 4 July 2019 to 10 October 2019.

Salvage multiple burr hole surgery in patients with Moyamoya disease: efficacy evaluation using probabilistic independent component analysis of dynamic susceptibility contrast perfusion MRI.

Purpose: Multiple burr hole surgery is considered to be an option for achieving indirect revascularization in patients with ischemic Moyamoya disease (MMD). We aimed to investigate the efficacy of stand-alone multiple burr hole surgery for salvage revascularization in patients with MMD by assessing the hemodynamic changes via normalized time-to-peak (nTTP) analysis and independent component analysis (ICA) of preoperative and postoperative dynamic susceptibility contrast (DSC) perfusion MRI data.

Methods: The DSC perfusion MRI data of 25 hemispheres from 21 patients with MMD, who underwent multiple burr hole surgery for salvage revascularization due to persistent or recurrent symptoms after primary revascularization with modified encephaloduroarteriosynangiosis (mEDAS), were analyzed.

The Moyamoya Health Behavior Scale for Adolescent Patients: Measurement Tool Development and Psychometric Evaluation.

Clinical practitioners treating moyamoya disease recognize the need for a systematic approach to better manage the disease in adolescent patients with the disease. : This study aimed to develop and evaluate the validity and reliability of a disease scale which measures the health-related behaviors of adolescents with moyamoya disease. : The final 12-item Moyamoya-HB Scale for adolescents was categorized by three sub-domains: implementation of treatment for moyamoya disease (four items); health promoting behavior for moyamoya disease (four items); and health coping behavior for moyamoya disease (four items).

The feasibility of performing multiple burr hole surgery in pediatric moyamoya patients as a response to failed mEDAS.

Objective: To investigate the feasibility and clinical effectiveness of performing multiple burr hole surgery in pediatric moyamoya patients as a response to failed modified encephaloduroarteriosynangiosis (mEDAS).

Methods: From January 2014 to May 2018, multiple burr hole surgery (MBS) was conducted on 16 hemispheres in 12 patients as a secondary treatment following mEDAS. The male-to-female ratio was 1:2 and the average age at the time of mEDAS was 6 years old.

Features and diversity of symptoms of moyamoya disease in adolescents: A cluster analysis.

Aims: The purpose of this study is to explore the symptoms experienced by adolescents with moyamoya disease and to identify the characteristics of each symptom cluster associated with moyamoya disease.

Design: A retrospective and descriptive design, which is a secondary data analysis study based on electronic medical record data from hospitals.

Methods: To assess the symptoms associated with moyamoya disease, a qualitative study was conducted on 12 adolescents, 12 caregivers and 12 experts on moyamoya disease.

Clinical Features and Outcomes of Intracranial Aneurysm Associated with Moyamoya Disease.

Background And Purpose: Moyamoya disease (MMD) is a rare form of intracranial stenoocclusive disease that can be associated with intracranial aneurysms. We evaluated the clinical features and outcomes of MMD-associated aneurysms while focusing on their locations.

Methods: Between January 1998 and December 2018 there were 1,302 adult and pediatric patients diagnosed as MMD at a single institution.

Postoperative hypotonia.

Purpose: To provide the insight for postoperative hypotonia. Selective posterior rhizotomy (SPR) has been proved as a powerful tool for reducing spasticity. And also, its functional benefit and long-term effect are also well-known.

Mood and Stress Evaluation of Adult Patients With Moyamoya Disease in Korea: Ecological Momentary Assessment Method Using a Mobile Phone App.

Background: Moyamoya disease (MMD) is a known progressive obstructive cerebrovascular disorder. Monitoring and managing mood and stress are critical for patients with MMD, as they affect clinical outcomes. The ecological momentary assessment (EMA) method is a longitudinal study design by which multiple variable assessments can be performed over time to detect momentary fluctuations and changes in psychological dimensions such as mood and stress over time.

Optimization of Intracranial Germinoma Treatment: Radiotherapy Alone with Reduced Volume and Dose.

Purpose: We investigated optimal management for intracranial germinoma, including target volume and dose of radiation therapy (RT) and the combination of RT and chemotherapy (CTx).

Methods And Materials: We retrospectively evaluated 213 patients with intracranial germinoma treated between 1971 and 2017. Treatment policies changed as diagnostic techniques and clinical experience improved.

Stress and mood of adults with moyamoya disease: A cross-sectional study.

Moyamoya disease in adults is a chronic, progressive disorder characterized by fine collateral vessel networks in the brain. The disorder can lead to negative mood and stress, which, left unresolved, may increase adverse health outcomes. We conducted a cross-sectional survey to examine stress and mood of adults with moyamoya disease.

Lived experiences of adult patients with moyamoya disease: A qualitative case study.

Aim: To understand the daily lived experiences of adult moyamoya disease patients.

Methods: This qualitative study involved a purposive sample of 14 adult moyamoya disease patients diagnosed after 19 years or older at one university hospital in Seoul. Interviews conducted with patients included open-ended questions about the experience of living with moyamoya disease.