Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

Aim: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes.

Detection and differentiation of ataxic and hypokinetic dysarthria in cerebellar ataxia and parkinsonian disorders via wave splitting and integrating neural networks.

Dysarthria may present during the natural course of many degenerative neurological conditions. Hypokinetic and ataxic dysarthria are common in movement disorders and represent the underlying neuropathology. We developed an artificial intelligence (AI) model to distinguish ataxic dysarthria and hypokinetic dysarthria from normal speech and differentiate ataxic and hypokinetic speech in parkinsonian diseases and cerebellar ataxia.

Extraction of volatile organic compounds from leaves of L. and L. by headspace-solid phase micro extraction and simultaneous distillation extraction and analysis by gas chromatography/mass spectrometry.

This study was designed to analyze the volatile organic compounds in the leaves of L. and L. from Korea.

Nasal airway function after Le Fort I osteotomy with maxillary impaction: A prospective study using the Nasal Obstruction Symptom Evaluation scale.

Background: This study evaluated changes in nasal airway function following Le Fort I osteotomy with maxillary impaction according to the Nasal Obstruction Symptom Evaluation (NOSE) scale.

Methods: This cohort study included 13 patients who underwent Le Fort I osteotomy with maxillary impaction. Nasal airway function was evaluated based on the NOSE scale preoperatively and at 3 months postoperatively.

Elemental composition of pork meat from conventional and animal welfare farms by inductively coupled plasma-optical emission spectrometry (ICP-OES) and ICP-mass spectrometry (ICP-MS) and their authentication via multivariate chemometric analysis.

The demand of consumers from around the world for natural, nutritional and palatable pork meat is increasing with time. This study analyzed macro (Ca, K, Mg, Na, P), micro (Fe, Zn, Cr, Mn, Ni, Cu, Se, Sr, Cs), trace (Li, Be, V, Co, Ga, Ba, U), and toxic trace (As, Cd, TI, and Pb) elements of pork meat from conventional and animal welfare farms in South Korea. Among the elements analyzed by inductively coupled plasma-optical emission, and mass spectrometric (ICP-OES, ICP-MS) techniques, K, Fe, Mn, and Ni content were higher in animal welfare pork meat.

Intraoperative blood loss and surgical time according to the direction of maxillary movement.

Background: Excessive bleeding is one of the most severe complications of orthognathic surgery (OGS). This study investigated the associations of intraoperative blood loss and surgical time with the direction of maxillary movement.

Methods: This retrospective study involved patients who underwent OGS from October 2017 to February 2020.

The Prevalence of Blepharoptosis in Facial Rejuvenation Patient Population.

Background: Facial rejuvenation results, commonly seen in publications or national presentations, are fraught with uncorrected eyelid ptosis. This study was conducted to investigate the frequency of blepharoptosis in the rejuvenation population and to help increase awareness in recognizing this under corrected condition.

Methods: Fifty-nine consecutive patients being evaluated for facial rejuvenation were included in the study.

Relationship of Microbial Profile With Airway Immune Response in Eosinophilic or Neutrophilic Inflammation of Asthmatics.

Purpose: Different characteristics of airway microbiome in asthmatics may lead to differential immune responses, which in turn cause eosinophilic or neutrophilic airway inflammation. However, the relationships among these factors have yet to be fully elucidated.

Methods: Microbes in induced sputum samples were subjected to sequence analysis of 16S rRNA.

Mevalonate production from ethanol by direct conversion through acetyl-CoA using recombinant Pseudomonas putida, a novel biocatalyst for terpenoid production.

Background: Bioethanol is one of the most representative eco-friendly fuels developed to replace the non-renewable fossil fuels and is the most successful commercially available bio-conversion technology till date. With the availability of inexpensive carbon sources, such as cellulosic biomass, bioethanol production has become cheaper and easier to perform, which can facilitate the development of methods for converting ethanol into higher value-added biochemicals. In this study, a bioconversion process using Pseudomonas putida as a biocatalyst was established, wherein ethanol was converted to mevalonate.

String Fat/Dermis Graft for Correction of Wrinkles and Scars.

Established creases and wrinkles do not predictably respond to the fat injection technique. The authors describe a minimally invasive yet simple technique to address recalcitrant facial rhytides and minor depressed scars. This technique optimally requires a concomitant procedure whereby suitable fat or dermis graft could be available for grafting without having to make another incision.

Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes.

For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated with asthma and its subtypes in hopes of gaining better understanding of the mechanisms underlying disease pathology and to identify genetic biomarkers predictive of disease outcomes. Various methods have been used to achieve these objectives, including linkage analysis, candidate gene polymorphism analysis, and genome-wide association studies (GWAS); however, the degree to which genetic variants contribute to asthma pathogenesis has proven to be much less significant than originally expected. Subsequent application of GWAS to well-defined phenotypes, such as occupational asthma and non-steroidal anti-inflammatory drugexacerbated respiratory diseases, has overcome some of these limitations, although with only partial success.

Lung Function Trajectory Types in Never-Smoking Adults With Asthma: Clinical Features and Inflammatory Patterns.

Purpose: Asthma is a heterogeneous disease that responds to medications to varying degrees. Cluster analyses have identified several phenotypes and variables related to fixed airway obstruction; however, few longitudinal studies of lung function have been performed on adult asthmatics. We investigated clinical, demographic, and inflammatory factors related to persistent airflow limitation based on lung function trajectories over 1 year.

Innovative Surgical Treatment of Severe Cherubism.

Background: Cherubism is an autosomal dominant syndrome characterized by excessive bilateral maxillomandibular bony degeneration and fibrous tissue hyperplasia. Conservative management is the preferred treatment as cherubism has a self-limiting course. Functional or emotional disturbances may, however, demand surgical intervention.

Neck Contouring Without Rhytidectomy in the Presence of Excess Skin.

Background: Patients with severe neck skin laxity due to excess submental adipose tissue have required either standard rhytidectomy or direct excision of neck skin with Z-plasty and submental lipectomy. Our recent experiences with four patients who declined cervicofacial rhytidectomy demonstrate that submental lipectomy and platysmarrhaphy appear to obtain sufficient improvement.

Methods: The submental area, submandibular area, and lateral neck are injected with local anesthetic.

Prevalence of Respiratory Viral Infections in Korean Adult Asthmatics With Acute Exacerbations: Comparison With Those With Stable State.

Purpose: Viral infections are involved in ~50% of exacerbations among Caucasian adult asthmatics. However, there have been few reports on the causative virus of exacerbations in Korean adult asthmatics. Thus, we compared frequencies and types of viruses between lower respiratory tract illnesses (LRTIs) with exacerbations (exacerbated LRTIs) and those without exacerbations (stable LRTIs) to evaluate contribution of respiratory viruses to exacerbations.

Transpalpebral Corrugator Resection: 25-Year Experience, Refinements and Additional Indications.

The senior author introduced the transpalpebral approach for the first time during the ASPS meeting in 1993. He has made some refinements in the technique and has developed newer indications for this procedure. These refinements, indications and the related new video are the subject of this report.

The comparison of temperament and character between patients with internet gaming disorder and those with alcohol dependence.

Background: The differences in prevalence, natural history, and disease progression between Internet gaming disorder (IGD) and substance use disorder contribute to the controversy over IGD as a diagnosis under substance-related and addictive disorders.

Aims: The purpose of the current study was to assess the temperament and character of subjects with IGD in comparison with those with alcohol dependence (AD).

Methods: Temperament and character were assessed using Cloningernt temperament and character inventory (TCI).

Comparative study of the effects of bupropion and escitalopram on Internet gaming disorder.

Aim: We compared the efficacy of bupropion and escitalopram treatments in Internet gaming disorder (IGD) patients.

Methods: We recruited 119 adolescents and adults with IGD. We treated these participants for 6 weeks in three groups as follows: 44 participants were treated with bupropion SR (bupropion group), 42 participants were treated with escitalopram (escitalopram group), and 33 patients without any medication were observed in the community (observation group).

Virtual Reality Therapy for the Treatment of Alcohol Dependence: A Preliminary Investigation With Positron Emission Tomography/Computerized Tomography.

Objective: Virtual reality therapy (VRT) uses multimodal stimulation that includes visual, auditory, olfactory, and gustatory stimuli. The aim of this study was to assess the effectiveness of VRT in treating subjects with alcohol dependence (AD) by evaluating changes in brain metabolism.

Method: The VRT protocol consisted of three steps: relaxation, presentation of a high-risk situation, and presentation of an aversive situation.

Correlation between gray matter volume in the temporal lobe and depressive symptoms in patients with Alzheimer's disease.

Recent studies have suggested that depression might be an aggravating factor in Alzheimer's disease (AD). The aim of the study was to compare depressive symptoms and gray matter volume between AD patients with comorbid depression and patients with dementia only. Forty-nine patients with AD, 57 with mild cognitive impairment (MCI), and 50 healthy control subjects were assessed using the Consortium to Establish a Registry for Alzheimer's disease (CERAD) and the Geriatric Depression Scale (GDS).

Transverse tensor fascia lata myocutaneous flap for microvascular breast reconstruction: case report and review of the literature.

The transverse tensor fascia lata (TTFL) flap is an important alternative flap for autologous breast reconstruction. It is a horizontal variant of the tensor fascia lata myocutaneous flap and contains fat from the prominence of the upper lateral thigh (saddle bag). We present the surgical management of a woman with trochanteric lipodystrophy, who underwent staged bilateral mastectomy and autologous breast reconstruction with TTFL flaps.