The modern face of newborn screening.

Newborn screening (NBS) has been developed for years to identify newborns with severe but treatable conditions. Taiwan's NBS system, after the initial setup for a total coverage of newborns in 1990s, was later optimized to ensure the timely return of results in infants with abnormal results. Advancements in techniques such as Tandem mass spectrometry enable the screening into a multiplex format and increase the conditions to be screened.

Cutaneous metastases at the sites of pembrolizumab-induced bullous pemphigoid lesions in a patient with melanoma.

The authors report a case of bullous pemphigoid (BP) that occurred during pembrolizumab therapy in a 67-year-old male patient with advanced melanoma. Following regression of BP blisters, they reintroduced anti-PD-1 treatment. Due to the flare-up of BP, immunotherapy was discontinued again and corticosteroid was restarted.

TIMECARD score: An easily operated prediction model of unfavorable neurological outcomes in out-of-hospital cardiac arrest patients with targeted temperature management.

Background: Targeted temperature management (TTM) is recommended for comatose out-of-hospital cardiac arrest (OHCA) survivors. Several prediction models have been proposed; however, most of these tools require data conversion and complex calculations. Early and easy predictive model of neurological prognosis in OHCA survivors with TTM warrant investigation.

Hemispheric lateralization of semantic processing before and after aripiprazole treatment in first-episode psychosis or ultra-high risk state.

Whether aberrant language-related lateralization can be improved after antipsychotic treatment in drug-free patients with first-episode psychosis or ultra-high risk state is little known. We aimed to investigate the improvement in lateralization of semantic processing after antipsychotic treatment and associated clinical and cognitive changes. Twenty-one drug-free patients with first-episode psychosis or ultra-high risk state underwent functional magnetic resonance imaging with a semantic task, neuropsychological testing, and clinical assessments with the Positive and Negative Syndrome Scale before and after 6 weeks of aripiprazole treatment.

Nanoparticles-mediated CRISPR-Cas9 gene therapy in inherited retinal diseases: applications, challenges, and emerging opportunities.

Inherited Retinal Diseases (IRDs) are considered one of the leading causes of blindness worldwide. However, the majority of them still lack a safe and effective treatment due to their complexity and genetic heterogeneity. Recently, gene therapy is gaining importance as an efficient strategy to address IRDs which were previously considered incurable.

Development of cool and hot executive function deficit in children born very low birth weight with normal early development: A longitudinal cohort from aged 6 to 10.

Background: Studies showed preterm children born with very low birth weight (VLBW, <1500 g) are at risk for poorer executive functions (EFs). However, very little research has been reported longitudinally on the development of both cool and hot EFs deficits in preschool to school-age VLBW preterm children with normal early development.

Aims: Present study aimed to investigate the development of cool and hot EFs in VLWB preterm children longitudinally.

Supplementation of (TCI227) Prevented Potassium-Oxonate-Induced Hyperuricemia in Rats.

Hyperuricemia (HC) is one of the important risk factors for gout, arteriosclerosis, and cardiovascular disease. Animal studies have shown that can improve microbiota and immune regulation, as well as inhibit uric acid production. However, it is not clear whether can improve HC and intestinal microbiota.

Mobilization of Hematopoietic Stem and Progenitor Cells during Dengue Virus Infection.

Hematopoietic stem and progenitor cells (HSPCs) mobilization is the movement of HSPCs from the bone marrow to the peripheral blood or tissue induced by stress. HSPC mobilization is a well-known response to protect the host during infection through urgent differentiation of HSPCs to immune cells. Dengue virus (DENV) infection is known to cause stress in infected humans and the mobilizing capacity of HSPCs during DENV infection in affected patients has not been fully investigated.

Pluripotent Stem Cells in Clinical Cell Transplantation: Focusing on Induced Pluripotent Stem Cell-Derived RPE Cell Therapy in Age-Related Macular Degeneration.

Human pluripotent stem cells (PSCs), including both embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs), represent valuable cell sources to replace diseased or injured tissues in regenerative medicine. iPSCs exhibit the potential for indefinite self-renewal and differentiation into various cell types and can be reprogrammed from somatic tissue that can be easily obtained, paving the way for cell therapy, regenerative medicine, and personalized medicine. Cell therapies using various iPSC-derived cell types are now evolving rapidly for the treatment of clinical diseases, including Parkinson's disease, hematological diseases, cardiomyopathy, osteoarthritis, and retinal diseases.

Effects of 12-Week Progressive Sandbag Exercise Training on Glycemic Control and Muscle Strength in Patients with Type 2 Diabetes Mellitus Combined with Possible Sarcopenia.

Patients with type 2 diabetes mellitus (T2DM) are at a three-fold increased risk of developing sarcopenia compared to those without diabetes. The objective of this study was to investigate whether an intervention involving progressive sandbag exercises is beneficial to patients with T2DM and possible sarcopenia in terms of enhancing muscle strength and controlling blood sugar levels. Forty patients with T2DM and possible sarcopenia (age > 50 years) were recruited and randomly divided into resistance training and control groups.

Anti-fatigue effects of enzyme-hydrolyzed okara in C2C12 myotubes and Sprague-Dawley rats.

Okara is a by-product of tofu or soymilk production processes. The disposal of huge quantities of okara is a significant issue. Based on previous reports, protein hydrolysis can release excess free amino acids and small peptides from okara and exhibit anti-fatigue function.

Atypical patterns of tone production in tone-language-speaking children with autism.

Speakers with autism spectrum disorder (ASD) are found to exhibit atypical pitch patterns in speech production. However, little is known about the production of lexical tones (T1, T2, T3, T4) as well as neutral tones (T1N, T2N, T3N, T4N) by tone-language speakers with ASD. Thus, this study investigated the height and shape of tones produced by Mandarin-speaking children with ASD and their age-matched typically developing (TD) peers.

Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease.

Purpose: The study aimed to describe central nervous system (CNS) progression in patients with infantile-onset Pompe disease (IOPD) and explore the potential clinical impact and predictors.

Methods: Patients with IOPD treated with enzyme replacement therapy were longitudinally followed with brain magnetic resonance imaging (MRI) and evaluation for IQ scores from 2004 to 2021. Investigation of CNS involvement focused on white matter (WM) abnormalities and was quantified using a scoring system for metachromatic leukodystrophy.

E-cigarettes and smoking cessation among adolescent smokers.

Smokers of any age can reap substantial health benefits from quitting or reducing their smoking. E-cigarettes have been promoted as a potentially promising product for tobacco harm reduction because e-cigarettes deliver nicotine vapor without many of the hazardous chemical combustion byproducts produced by combustible cigarette smoking. However, there remains an ongoing debate on whether the use of e-cigarettes is effective in combustible cigarette smoking cessation or reduction in both adolescents and adults.

The association between long-term ambient fine particulate exposure and the mortality among adult patients initiating dialysis: A retrospective population-based cohort study in Taiwan.

Fine particulate matter (PM) has been reported to be associated with increased risk of chronic kidney disease (CKD) and progression to end-stage renal disease (ESRD). However, studies on whether long-term exposure to PM negatively impacts the survival of patients with ESRD are very limited. To conduct this study, we linked Taiwan Air Quality-Monitoring Database (TAQMD) and the National Health Insurance Research Database (NHIRD) by zip-code.

A MoS Hafnium Oxide Based Ferroelectric Encoder for Temporal-Efficient Spiking Neural Network.

Spiking neural network (SNN), where the information is evaluated recurrently through spikes, has manifested significant promises to minimize the energy expenditure in data-intensive machine learning and artificial intelligence. Among these applications, the artificial neural encoders are essential to convert the external stimuli to a spiking format that can be subsequently fed to the neural network. Here, a molybdenum disulfide (MoS ) hafnium oxide-based ferroelectric encoder is demonstrated for temporal-efficient information processing in SNN.

A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.

Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in genes involved in telomere maintenance. Here, we identified male siblings from a family with HHS carrying a hemizygous mutation (c.1345C > G, p.

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.

The SARS-CoV-2 pandemic challenges healthcare systems worldwide. Within inherited metabolic disorders (IMDs) the vulnerable subgroup of intoxication-type IMDs such as organic acidurias (OA) and urea cycle disorders (UCD) show risk for infection-induced morbidity and mortality. This study (observation period February 2020 to December 2021) evaluates impact on medical health care as well as disease course and outcome of SARS-CoV-2 infections in patients with intoxication-type IMDs managed by participants of the European Registry and Network for intoxication type metabolic diseases Consortium (E-IMD).

Differences in white matter segments in autistic males, non-autistic siblings, and non-autistic participants: An intermediate phenotype approach.

White matter is the neural pathway that connects neurons in different brain regions. Although research has shown white matter differences between autistic and non-autistic people, little is known about the properties of white matter in non-autistic siblings. In addition, past studies often focused on the whole neural tracts; it is unclear where differences exist in specific segments of the tracts.

Associations between parental psychiatric disorders and autism spectrum disorder in the offspring.

Whether parental psychiatric disorders are associated with autism spectrum disorder (ASD) in offspring has remained inconclusive. We examined the associations of parental psychiatric disorders with ASD in offspring. This population-based case-control study used Taiwan's National Health Insurance Research Database to identify a cohort of children born from 2004 to 2017 and their parents.

Superrepellent Doubly Reentrant Geometry Promotes Antibiofouling and Prevention of Coronavirus Contamination.

The fomite transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has drawn attention because of its highly contagious nature. Therefore, surfaces that can prevent coronavirus contamination are an urgent and unmet need during the coronavirus disease 2019 (COVID-19) pandemic. Conventional surfaces are usually based on superhydrophobic or antiviral coatings.

Research on Wind Power Short-Term Forecasting Method Based on Temporal Convolutional Neural Network and Variational Modal Decomposition.

Wind energy reserves are large worldwide, but their randomness and volatility hinder wind power development. To promote the utilization of wind energy and improve the accuracy of wind power prediction, we comprehensively consider the influence of wind farm environmental factors and historical power on wind power generation. This paper presents a short-term wind power prediction model based on time convolution neural network (TCN) and variational mode decomposition (VMD).

Body composition and pelvic fat distribution are associated with prostate cancer aggressiveness and can predict biochemical recurrence.

This study evaluated the effect of body composition and pelvic fat distribution on the aggressiveness and prognosis of localized prostate cancer. This study included patients who underwent robot-assisted radical prostatectomy with positive surgical margins. Clinicodemographic data were collected from patients' medical reports.