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.

Association of cranial base suture/synchondrosis fusion with severity of increased intracranial pressure in Crouzon syndrome.

This study investigated how the fusion states of the cranial base is related to the degree of increased intracranial pressure (ICP) in patients with Crouzon syndrome. This retrospective cohort study enrolled patients who were diagnosed with Crouzon syndrome between May 2007 and April 2022. We categorized the patients into three groups: A, B, and C, according to the severity of increased ICP and the number of cranial vault remodeling procedures for corrective operation.

Staged reconstruction of a chronically infected large skull defect using free tissue transfer and a patient-specific polyetheretherketone implant.

Reconstructions of extensive composite scalp and cranial defects are challenging due to high incidence of postoperative infection and reconstruction failure. In such cases, cranial reconstruction and vascularized soft tissue coverage are required. However, optimal reconstruction timing and material for cranioplasty are not yet determined.

Applicative Factors of Helmet Molding Therapy in Late-diagnosed Positional Plagiocephaly.

Background: Although the benefits of helmet therapy for positional plagiocephaly are strongly correlated with age, the effective period remains controversial. However, most physicians agree that effective results can be obtained in patients within the age of 6 months. Owing to the characteristics of positional plagiocephaly in Koreans, many Korean patients have delayed diagnosis, and because this results in delayed onset of the helmet therapy, the outcomes remain largely underevaluated.

Quantitative Correlation of Nanotopography with Cell Spreading via Focal Adhesions Using Adipose-Derived Stem Cells.

Nanotopography mimicking extracellular environments reportedly impact cell morphological changes; however, elucidating this relationship has been challenging. To control cellular responses using nanostructures, in this study, the quantitative relationship between nanotopography and cell spreading mediated by focal adhesions (FAs) is demonstrated using adipose-derived stem cells (ASCs). The spreading of ASCs and area of FAs are analyzed for the distribution of filamentous actin and vinculin, respectively, using fluorescent images.

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.

Background: Genetic factors play an important role in the pathogenesis of craniosynostosis (CRS). However, the molecular diagnosis of CRS in clinical practice is limited because of its heterogeneous etiology.

Objective: To investigate the genomic landscape of CRS in a Korean cohort and also to establish a practical diagnostic workflow by applying targeted panel sequencing.

Analysis of factors involved in brain-death donor processing for face transplantation in Korea: How much time is available from brain death to transplantation?

Background: Face transplantation has naturally evolved from reconstructive procedures. However, few institutions perform face transplantations, because it is time-consuming and it is necessary to justify non-vital organ transplantation. We investigated the process of organ donation from brain-dead patients and the possibility of incorporating face transplantation into the donation process.

Effect of Relaxin Expression from an Alginate Gel-Encapsulated Adenovirus on Scar Remodeling in a Pig Model.

Purpose: Relaxin (RLX) is a transforming growth factor-β1 (TGF-β1) antagonist that is believed to function as a potent collagen re-arranger and a major suppressor of extracellular matrix components. Adenoviruses (Ads) are accepted vectors for cancer gene therapy. However, repeated treatments of Ad are limited by short-term biological activity in vivo.

Extended temporalis flap for skull base reconstruction.

Traditionally, a galeal flap has been used for skull base reconstruction. In addition to the galeal flap, several other flaps, such as the temporalis muscle flap or the free vascularized flap, can be options for skull base reconstruction, and each option has advantages and disadvantages. Certain cases, however, can be challengeable in the application of these flaps.

Treatment of fibrous dysplasia of the zygomaticomaxillary complex with radical resection and three-dimensional reconstruction with autologous calvarial bone graft.

Fibrous dysplasia (FD) is a rare, benign bone disease with abnormal bone maturation and fibroblastic proliferation. Optimal treatment of zone 1 craniofacial FD is radical resection and reconstruction. To achieve of structural, aesthetic, and functional goals, we use three-dimensionally designed calvarial bone graft for reconstruction of zygomatic defect after radical resection of FD.

Effects of Tranexamic Acid Based on its Population Pharmacokinetics in Pediatric Patients Undergoing Distraction Osteogenesis for Craniosynostosis: Rotational Thromboelastometry (ROTEM) Analysis.

: Distraction osteogenesis for craniosynostosis is associated with significant hemorrhage. Additionally, patients usually require several transfusions. Tranexamic acid (TXA) is effective for reducing blood loss and the need for transfusions during surgeries.

Demographic characteristics of craniosynostosis patients in Asia.

Purpose: Craniosynostosis (CRS) is a congenital condition resulting premature fusion of one or more cranial sutures. CRS is classified according to the involved sutures into sagittal, metopic, unicoronal, unilambdoid, bicoronal, and multiple-suture CRS, with sagittal suture fusion known to be the most common type. Although multiple studies have presented demographic characteristics of CRS patients, to date, there is no study representing an Asian population.

Cervical Spine Dysmorphism in Congenital Muscular Torticollis.

Background: Congenital muscular torticollis is a common childhood musculoskeletal anomaly that might result in permanent craniofacial deformity, facial asymmetry, and changes in the cervical vertebrae, if not treated during early childhood. Although there have been many studies on cervical vertebral changes, their onset in children has not been previously studied.

Methods: Fifteen patients (aged <8 years) with a confirmed diagnosed of torticollis were included.

Scaffold Free Bone Regeneration Using Platelet-Rich Fibrin in Calvarial Defect Model.

Bone regeneration is a complex process influenced by various physiological factors. Platelet-rich plasma (PRP) contains many growth factors and has shown osteogenic effects. The PRP is usually activated before use.

Analysis of the correlation between deformational plagiocephaly and neurodevelopmental delay.

Background: Deformational plagiocephaly (DP) refers to cranial asymmetry resulting from uneven external forces. A strong association exists between DP and developmental delay. We investigated the effect of DP severity on developmental delay.

The Unnecessity of Positron Emission Tomography Computed Tomography in the Etiologic Evaluation of Neurodevelopmental Delay in Craniosynostosis Patients.

Background: In evaluation of craniosynostosis patients in terms of neurodevelopmental delay, positron emission tomography computed tomography (PET-CT) scan can be used to assess brain abnormalities through glucose metabolism. We aimed to determine the unnecessity of PET-CT in this study.

Methods: Thirty-eight patients diagnosed with craniosynostosis who underwent distraction osteogenesis from October, 2010 to November, 2013 were reviewed.

Effect of Relaxin Expressing Adenovirus on Scar Remodeling: A Preliminary Study.

Background: Relaxin is a transforming growth factor β1 antagonist. To determine the effects of relaxin on scar reduction, we investigated the scar remodeling process by injecting relaxin-expressing adenoviruses using a pig scar model.

Methods: Scars with full thickness were generated on the backs of Yorkshire pigs.

Adipose Tissue Formation Utilizing Fat Flap Distraction Technique.

Co-regulation between adipocytes and supporting vasculature is considered an important process in adipose tissue generation. The objective of this study was to evaluate the mechanical and biological effects of a distraction technique on adipose tissue formation and maintenance. Based on the hypothesis that fat flaps gradually receding from each other can develop an adipose tissue construct, perforated polycarbonate syringe-shaped chambers were implanted in a rabbit model.

Virtual Reality and Augmented Reality in Plastic Surgery: A Review.

Recently, virtual reality (VR) and augmented reality (AR) have received increasing attention, with the development of VR/AR devices such as head-mounted displays, haptic devices, and AR glasses. Medicine is considered to be one of the most effective applications of VR/AR. In this article, we describe a systematic literature review conducted to investigate the state-of-the-art VR/AR technology relevant to plastic surgery.

Altered cerebrospinal fluid dynamics in neurofibromatosis type l: severe arachnoid thickening in patients with neurofibromatosis type 1 may cause abnormal CSF dynamic.

Introduction: The object of this study is to understand abnormal dynamic of cerebrospinal fluid (CSF) in patients with neurofibromatosis type 1 (NF1), which may cause temporal lobe herniation and bulging of temporal fossa.

Methods: Four patients, three females and one male, with NF1 were studied retrospectively. They presented with a similar craniofacial deformity, which consisted of pulsatile exophthalmos, an enlarged bony orbit, dysplasia of the sphenoid wing with the presence of a herniation of the temporal lobe into the orbit, and a bulging temporal fossa.

Correction of Sagittal Craniosynostosis Using Distraction Osteogenesis Based on Strategic Categorization.

Background: Distraction osteogenesis has been used to correct sagittal craniosynostosis in various ways. The purpose of this study was to introduce three distraction osteogenesis procedures by describing four objective measurements.

Methods: Fifty-four patients with sagittal synostosis were recruited and assigned to one of three therapeutic groups: group 1, anteroposterior compression with bitemporal expansion (n = 35); group 2, bitemporal expansion (n = 9); and group 3, anteroposterior expansion with bitemporal expansion (n = 10).

Cervical Spine Deformity in Long-Standing, Untreated Congenital Muscular Torticollis.

Background: Congenital muscular torticollis (CMT) is a benign condition. With early diagnosis and appropriate management, it can be cured completely, leaving no residual deformity. However, long-standing, untreated CMT can lead to permanent craniofacial deformities and asymmetry.

Craniofacial Fibrous Dysplasia: Retrospective Study on the Relationship Between the Tumor Volume Changes and the Circulating Serum Calcitonin and Serum Alkaline Phosphatase.

Background: The purpose of this study was to determine the usefulness of serum alkaline phosphatase (ALP) and calcitonin in the follow-up of tumor volume changes in patients with craniofacial fibrous dysplasia.

Methods: Twenty patients with isolated craniofacial fibrous dysplasia were included, who met our criteria for long-term follow-up. Three-dimensional computed tomography scans were obtained, and tumor segmentation was performed.