Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.

Palmoplantar keratoderma-congenital alopecia syndrome type 2 is an autosomal recessive disorder with an unknown genetic basis. In this study, we identified biallelic variants in the LSS gene in two unrelated palmoplantar keratoderma-congenital alopecia syndrome type 2 cases (c.3G>A, p.

Reduced Sleep Quality Is Related to Poor Quality of Life in Patients with Juvenile Myoclonic Epilepsy, a Case-Control Study.

Juvenile myoclonic epilepsy (JME) is a primary generalized epilepsy which is closely related to the sleep-wake cycle. This study aimed to investigate whether sleep disturbance is more common among patients with JME and the impact this may have on their quality of life (QOL). Thirty-four patients with JME and age- and gender-matched controls were recruited into this case control study, and assessed using validated sleep questionnaires including the Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), and Stanford Sleepiness Scale (SSS).

Outcome Analysis of Surgical Timing in Pediatric Orbital Trapdoor Fracture with Different Entrapment Contents: A Retrospective Study.

Orbital trapdoor fracture occurs more commonly in pediatric patients, and previous studies suggested early intervention for a better outcome. However, there is no consensus on the appropriate timing of emergent intervention due to the insufficient cases reported. In the current retrospective study, we compared the outcomes of patient groups with different time intervals from injury to surgical intervention and entrapment content.

Model for Studying Gut Microbiota in Behaviors and Neurodegenerative Diseases.

Mounting evidence indicates that the gut microbiota is linked to several physiological processes and disease development in mammals; however, the underlying mechanisms remained unexplored mostly due to the complexity of the mammalian gut microbiome. The fruit fly, , is a valuable animal model for studying host-gut microbiota interactions in translational aspects. The availability of powerful genetic tools and resources in allowed the scientists to unravel the mechanisms by which the gut microbes affect fitness, health, and behavior of their hosts.

Combined levosimendan and Sacubitril/Valsartan markedly protected the heart and kidney against cardiorenal syndrome in rat.

Background: Cardiorenal syndrome (CRS) remains the leading cause of death in hospitalized patients for all disease entities. Sacubitril/Valsartan (Sac/Val) therapy has been proved to improve prognostic outcome in patients with heart failure or chronic kidney disease. This study tested the hypothesis that combined levosimendan and Sac/Val was superior to just one therapy on protecting the heart and kidney against simultaneous heart and kidney ischemia (I) (for 50-min)-reperfusion (R) (for 7-days) (i.

Sex-related differences on the risks of in-hospital and late outcomes after acute aortic dissection: A nationwide population-based cohort study.

Objective: The aim of this study is to evaluate the sex-related differences on the risks of perioperative and late outcomes for adult acute aortic dissection (AAD) patients following surgical management.

Methods And Results: By using Taiwan National Health Insurance Research Database, totally 1,410 female and 3,432 male patients were identified to first-ever receive type A AAD open surgery or type B AAD stenting treatment from 2004 to 2013. We assessed the sex-related difference on outcomes, including in-hospital mortality, all-cause mortality, aortic death, redo aortic surgery, ischemic stroke, and depression during the follow-up period.

Evaluation of Combination Therapy With Etanercept and Systemic Corticosteroids for Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Multicenter Observational Study.

Background: Stevens-Johnson syndrome-toxic epidermal necrolysis (SJS-TEN) are fatal severe cutaneous adverse reactions, without consensus on the medical treatment. The use of systemic corticosteroids or intravenous immunoglobulin (IVIG) remains debatable. Tumor necrosis factor-alpha inhibitors are potentially effective.

Optimal Threshold of Homeostasis Model Assessment of Insulin Resistance to Identify Metabolic Syndrome in a Chinese Population Aged 45 Years or Younger.

Background: Metabolic syndrome (MetS) is regarded as a major risk factor for diabetes mellitus and cardiovascular disease (CVD). The optimal threshold of the homeostasis model assessment of insulin resistance (HOMA-IR) has been established for predicting MetS in diverse populations and for different ages. This study assessed the serum HOMA-IR level in a healthy Chinese population aged ≤45 years to determine its relationship with metabolic abnormalities.

Cellular Prion Protein Is Essential for Myocardial Regeneration but Not the Recovery of Left Ventricular Function from Apical Ballooning.

This study tested the hypothesis that cellular prion protein (PrP) played an essential role in myocardial regeneration and recovery of left ventricular ejection fraction (LVEF) from apical takotsubo cardiomyopathy (TCM) induced by transaortic constriction (TAC). In vitro study was categorized into G1 (H9C2), G2 (H9C2-overexpression-PrP), G3 (H9C2-overexpression-PrP + Stelazine/1 uM), and G4 (H9C2 + siRNA-PrP), respectively. The results showed that the protein expressions of PrP, cell-stress signaling (p-PI3K/p-Akt/p-m-TOR) and signal transduction pathway for cell proliferation/division (RAS/c-RAF/p-MEK/p-ERK1/2) were lowest in G1, highest in G2, significantly higher in G3 than in G4 (all < 0.

Hepatorenal syndrome in acute-on-chronic liver failure with acute kidney injury: more questions requiring discussion.

In cirrhosis with ascites, hepatorenal syndrome (HRS) is a specific prerenal dysfunction unresponsive to fluid volume expansion. Acute-on-chronic liver failure (ACLF) comprises a group of clinical syndromes with multiple organ failure and early high mortality. There are differences in the characterization of ACLF between the Eastern and Western medical communities.

Valsartan- and melatonin-supported adipose-derived mesenchymal stem cells preserve renal function in chronic kidney disease rat through upregulation of prion protein participated in promoting PI3K-Akt-mTOR signaling and cell proliferation.

This study tested the hypothesis that valsartan (Val) and melatonin (Mel)-assisted adipose-derived mesenchymal stem cells (ADMSCs) preserved the residual renal function in chronic kidney disease (CKD) rat through promoting cellular-prior-protein (PrP) to upregulate PI3K/Akt/mTOR signaling and cell proliferation. In vitro study demonstrated that as compared with CKD-derived-ADMSCs, Val/Mel/overexpression of PrP-treated CKD derived-ADMSCs significantly upregulated cell proliferation and protein expressions of PrP and phosphorylated (p)-PI3K/p-Akt/p-mTOR, and downregulated oxidative stress (all p < 0.001).

Gender-specific and age-specific associations of the homoeostasis model assessment for IR (HOMA-IR) with albuminuria and renal function impairment: a retrospective cross-sectional study in Southeast China.

Objectives: The study aimed to investigate the association of insulin resistance (IR), which was estimated by the homoeostasis model assessment for IR (HOMA-IR), with albuminuria and renal function impairment in a general Chinese population.

Design: A retrospective cross-sectional study.

Setting And Participants: A total of 13 742 adults (age: ≥18 years) who underwent a health check-up at a hospital in Southeast China during 2013-2014 were enrolled.

Differences in clinical and imaging presentation of maxillary sinus fungus ball with and without intralesional hyperdensity.

Maxillary sinus fungal balls (MSFBs) mostly occur in older individuals and demonstrate female predominance. Early diagnosis is important to avoid treatment delays. Intralesional hyperdensity (IH) indicates the presence of heavy metal deposition within fungal hyphae and has been the most specific characteristic of MSFB on computed tomography (CT).

Combination therapy of thiamine, vitamin C and hydrocortisone in treating patients with sepsis and septic shock: a meta-analysis and trial sequential analysis.

Background: The objective of this study was to evaluate the clinical efficacy of thiamine and vitamin C with or without hydrocortisone coadministration on the treatment of sepsis and septic shock.

Methods: MEDLINE, EMBASE and CENTRAL databases were searched for randomized controlled trials (RCTs) that made a comparative study between the combination therapy of vitamin C and thiamine with or without hydrocortisone and the administration of placebo in patients with sepsis or septic shock. Two reviewers independently performed study selection, data extraction and quality assessment.

Efficacy and safety of picosecond 755-nm alexandrite laser for treatment of nevus of Ota in Taiwanese children: A retrospective study.

Objectives: To evaluate the efficacy and safety of picosecond 755-nm alexandrite laser in the treatment of nevus of Ota in children.

Materials And Methods: A retrospective study was conducted by reviewing medical charts and photographs of 86 Taiwanese children with various types of nevus of Ota between January 2017 and September 2020. Picosecond 755-nm alexandrite laser therapy was used to treat pigmentary lesions.

Investigation of the Characteristics and Antibacterial Activity of Polymer-Modified Copper Oxide Nanoparticles.

The proliferation of drug-resistant pathogens continues to increase, giving rise to serious public health concerns. Many researchers have formulated metal oxide nanoparticles for use as novel antibacterial agents. In the present study, copper oxide (CuO) was synthesized by simple hydrothermal synthesis, and doping was performed to introduce different polymers onto the NP surface for bacteriostasis optimization.

Host Genetic Associations with Salivary Microbiome in Oral Cancer.

Despite the growing recognition of a host genetic effect on shaping gut microbiota composition, the genetic determinants of oral microbiota remain largely unexplored, especially in the context of oral diseases. Here, we performed a microbiome genome-wide association study in 2 independent cohorts of patients with oral squamous cell carcinoma (OSCC, = 144 and 67) and an additional group of noncancer individuals ( = 104). Besides oral bacterial dysbiosis and signatures observed in OSCC, associations of 3 loci with the abundance of genus-level taxa and 4 loci with β diversity measures were detected ( < 0.

The prognostic value of the lymph node ratio in patients with stage IIIC ovarian cancer treated with preoperative chemotherapy.

Background: Ovarian cancer is a major cause of morbidity and mortality in females. Due to the unremarkable symptoms associated with early ovarian cancer, many patients are already in the advanced stages at first diagnosis. Recent studies have shown that the lymph node ratio (LNR) has a certain value in predicting the prognosis of patients with ovarian cancer.

Serotonin Signals Modulate Mushroom Body Output Neurons for Sustaining Water-Reward Long-Term Memory in .

Memory consolidation is a time-dependent process through which an unstable learned experience is transformed into a stable long-term memory; however, the circuit and molecular mechanisms underlying this process are poorly understood. The mushroom body (MB) is a huge brain neuropil that plays a crucial role in olfactory memory. The MB neurons can be generally classified into three subsets: γ, αβ, and α'β'.

Novel screening model of obstructive sleep apnea for snorers with suspected NAFLD undergoing liver sonography.

Background/aims: Given the increased incidence of obstructive sleep apnea (OSA) among patients with nonalcoholic fatty liver disease (NAFLD), noninvasive screening methods are urgently needed to screen for OSA risk in these patients when conducting an office-based assessment of hepatic steatosis. Therefore, we investigated the controlled attenuation parameter (CAP) and hepatic steatosis index (HSI) in patients with and without OSA and developed screening models to detect OSA.

Methods: We retrospectively reviewed the medical records of all adult snorers with suspected NAFLD undergoing liver sonography between June 2017 and June 2020.

Refining Orthognathic Surgery Results by Synchronous Cheek Fat Compartment Augmentation with Fat Grafting in Adult Females with Class III Skeletal Profiles.

Summary: Patients with maxillomandibular disharmony may present with a flat to concave midface. The effects of orthognathic surgery concomitant with midface fat grafting on facial appearance and midface volumetric and positional change have not formally been assessed to date. The authors' approach for synchronous orthognathic surgery and fat grafting is described and evaluated.