Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.

Rationale: Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders. CHH-AD is caused by homozygous or compound heterozygous mutations in the RNA component of the mitochondrial RNA-processing Endoribonuclease (RMRP) gene.

Patient Concerns: Here, we report 2 cases of Korean children with CHH-AD.

Age-Related Changes in Low Serum Anti-Müllerian Hormone Levels in Female Adolescents: A Single-Center Retrospective Pilot Study.

Study Objective: Available data on the clinical significance of low serum anti-Müllerian hormone (AMH) levels in female adolescents are limited. The aim of this study was to elucidate age-related changes in low serum AMH levels in adolescents and to identify predictive factors for AMH progression.

Methods: A retrospective review was conducted on a series of female adolescents aged 11-19 years with low serum AMH levels (<1.

Adverse Effect of the Duration of Antibiotic Use Prior to Immune Checkpoint Inhibitors on the Overall Survival of Patients with Recurrent Gynecologic Malignancies.

Purpose: Antibiotic use preceding immune checkpoint inhibitor (ICI) treatment has been associated with a decreased efficacy of ICI in solid tumors. In this study, we evaluated the effect of antibiotic use before ICI therapy on oncological outcomes.

Methods: We examined patients with recurrent gynecologic malignancies at two academic institutions.

Maternal vitamin D deficiency in early pregnancy and perinatal and long-term outcomes.

Background: Vitamin D deficiency is common in pregnant women. Some studies have linked vitamin D deficiency to obstetric complications such as gestational hypertension, gestational diabetes, and preterm birth. Therefore, the objective of this study is to investigate the potential impact of vitamin D deficiency during pregnancy on both perinatal and long-term outcomes.

Unpacking the Drivers of Dissatisfaction and Satisfaction in a Fitness Mobile Application.

This research investigates the factors influencing user satisfaction and dissatisfaction in fitness mobile applications. It employs Herzberg's two-factor model through text mining to classify Fitbit mobile app attributes into satisfiers and dissatisfiers. The Fitbit app was chosen due to its prevalence in the United States.

How Can Restaurant Companies Effectively Deliver CSR Efforts to Consumers on Social Media?

This study emphasized the source credibility effect on consumers' responses to restaurant companies' CSR efforts on social media. Based on the source credibility brand development process (i.e.

Does CEO tenure moderate the link between corporate social responsibility and business performance in small- and medium-sized enterprises?

This study investigates the effect of CSR activities on business performance of small- and medium-sized enterprises (SMEs) in South Korea setting. Based on upper echelons theory and stakeholder theory, the study further examines CEO tenure as a potential moderator between CSR activities and business performance. The study considers four dimensions of CSR (economic, legal, ethical, and philanthropic) and two types of business performance (financial and non-financial).

Development and performance evaluation of an artificial intelligence algorithm using cell-free DNA fragment distance for non-invasive prenatal testing (aiD-NIPT).

With advances in next-generation sequencing technology, non-invasive prenatal testing (NIPT) has been widely implemented to detect fetal aneuploidies, including trisomy 21, 18, and 13 (T21, T18, and T13). Most NIPT methods use cell-free DNA (cfDNA) fragment count (FC) in maternal blood. In this study, we developed a novel NIPT method using cfDNA fragment distance (FD) and convolutional neural network-based artificial intelligence algorithm (aiD-NIPT).

Investigating the Effect of Compassion Fade in Volunteer Tourism.

This study investigated the relationship between the type of volunteer tourism (human vs. flora vs. fauna) and the type of message (individual with no statistic vs.

Body fat distribution and insulin resistance among Korean middle-aged women: a Korean National Health and Nutrition Examination Survey.

Objective: To evaluate menopause-related changes in body fat distribution and their relationship with insulin resistance in middleaged Korean women.

Methods: We analyzed women aged 40-60 years using data from the National Health and Nutrition Examination Survey conducted from 2008 to 2011. Body fat was measured using dual-energy X-ray absorptiometry.

Development and Evaluation of AccuPower COVID-19 Multiplex Real-Time RT-PCR Kit and AccuPower SARS-CoV-2 Multiplex Real-Time RT-PCR Kit for SARS-CoV-2 Detection in Sputum, NPS/OPS, Saliva and Pooled Samples.

Rapid and accurate detection of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is essential for the successful control of the current global COVID-19 pandemic. The real-time reverse transcription polymerase chain reaction (Real-time RT-PCR) is the most widely used detection technique. This research describes the development of two novel multiplex real-time RT-PCR kits, AccuPower® COVID-19 Multiplex Real-Time RT-PCR Kit (NCVM) specifically designed for use with the ExiStation™48 system (comprised of ExiPrep™48 Dx and Exicycler™96 by BIONEER, Korea) for sample RNA extraction and PCR detection, and AccuPower® SARS-CoV-2 Multiplex Real-Time RT-PCR Kit (SCVM) designed to be compatible with manufacturers' on-market PCR instruments.

First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.

Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis.

Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity.

Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diagnosed late or untreated. In the early phase of WD, its initial presentation may include mild hepatic involvement.

Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.

Skeletal dysplasia (SD), a heterogeneous disease group with rare incidence and various clinical manifestations, is associated with multiple causative genes. For clinicians, accurate diagnosis of SD is clinically and genetically difficult. The development of next-generation sequencing (NGS) has substantially aided in the genetic diagnosis of SD.

Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis.

Diabetic ketoacidosis (DKA) is a medically fatal condition in poorly controlled hyperglycemia or newly diagnosed diabetes mellitus. Severe hypertriglyceridemia (HTG) is an uncommon complication of DKA and can be associated with acute pancreatitis (AP). We present the clinical manifestations, laboratory findings, and management of AP associated with HTG in a 14-year-old girl with DKA.

Health and weight attitudes of university recreation center leaders.

Emerging research suggests weight-neutral approaches to health promotion are effective in supporting overall health, but they have been minimally adopted within physical activity (PA) contexts. This is concerning as research shows PA-related professionals can perpetuate weight stigma, which can disrupt PA participation and enjoyment. Thus, the purpose of this study was to examine university recreation center (URC) leaders' attitudes toward health and weight.

A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.

Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. We report the clinical and molecular findings in a patient with Coffin-Siris syndrome. A 3-year-and-6-month-old boy presented with developmental delay, distinctive facial features, hypertrichosis, partial agenesis of the corpus callosum, fifth digit nail hypoplasia, congenital anomalies, and growth retardation.

The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.

Baraitser-Winter Cerebro-fronto-facial syndrome (BWCFF, OMIM #243310, #614583) is caused by a heterozygous gain-of-function mutation of and that encodes actin. The syndrome is characterized by striking facial features, structural brain abnormalities, ocular coloboma, hearing loss, cardiac defects, intellectual disabilities, short stature, and developmental delay. We report a two-year-old girl who had distinctive facial features, including hypertelorism, arched eyebrows, bilateral ptosis, short broad nose with a flat nasal tip, long philtrum, retrognathia, low-set ears, and a thin upper lip.

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.

Due to the genotype-phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease progression is difficult. This study aimed to report ocular and genetic data from Korean patients with PDE6B-associated RP (PDE6B-RP), and establish genotype-phenotype correlations to predict the clinical course. We retrospectively reviewed targeted next-generation sequencing or whole exome sequencing data for 305 patients with RP, and identified PDE6B-RP in 15 patients (median age, 40.

The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in Diagnosed via Targeted Gene Panel Sequencing.

Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked recessive inheritance, characterized by short stature, facial dysmorphism, and skeletal abnormalities. We report the clinical and molecular analysis of a family with ASS. A 31-month-old boy and his cousin were initially mistaken for having Noonan syndrome owing to short stature and facial dysmorphism.

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.

Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute regulatory (STAR) gene; the disease manifests with electrolyte imbalances and hyperpigmentation in neonates or young infants due to adrenocortical hormone deficiencies, and 46, XY genetic male CLAH patients can be phenotypically female. Meanwhile, some patients with STAR mutations develop hyperpigmentation and mild signs of adrenal insufficiency, such as hypoglycemia, after infancy.

Two Novel Mutations (c.883-4_890del and c.1684C>G) of Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report.

Autosomal recessive primary microcephaly (Microcephaly Primary Hereditary, MCPH) is a rare disorder, affecting 1 in 10,000 children in areas where consanguineous marriages are common. gene mutations are the second most common cause of MCPH. Herein, we report a case of primary microcephaly caused by two novel mutations, which is, to our knowledge, the first such case report in East Asia.