[Developmental and epileptic encephalopathy 33 caused by gene mutation: a case report].

A boy, aged 7 months, presented with severe global developmental delay (GDD), refractory epilepsy, hypotonia, nystagmus, ocular hypertelorism, a broad nasal bridge, everted upper lip, a high palatal arch, and cryptorchidism. Genetic testing revealed a heterozygous missense mutation of c.364G>A(p.

[ gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review].

This article reports on the clinical and genetic characteristics of monozygotic twins with Marshall-Smith syndrome (MRSHSS) due to a mutation in the gene, along with a review of related literature. Both patients presented with global developmental delays, a prominent forehead, shallow eye sockets, and pectus excavatum. Genetic testing revealed a heterozygous splicing site mutation c.

Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.

Objectives: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants.

Methods: We described 13 individuals with CLCN4-related neurodevelopmental disorder.

A V-shaped association between high-density lipoprotein cholesterol levels and poor outcomes in patients after percutaneous coronary intervention.

Background: High density lipoprotein cholesterol (HDL-C) is considered as "good cholesterol". Recent evidence suggests that a high HDL-C level may increase the risk of poor outcomes in some populations.

Purpose: To investigate the association between HDL-C levels and poor outcomes in patients after percutaneous coronary intervention (PCI).

Prognostic value of triglyceride glucose index in population at high cardiovascular disease risk.

Background: Early identification of populations at high cardiovascular disease (CVD) risk and improvement of risk factors can significantly decrease the probability of CVD development and improve outcomes. Insulin resistance (IR) is a CVD risk factor. The triglyceride glucose (TyG) index is a simple and reliable index for evaluating IR.

Calcitonin gene-related peptide is potential therapeutic target of osteoporosis.

Osteoporosis is a skeletal disorder characterised by the decrease of bone mineral density and is becoming prevalent with the entry of an ageing era. There are two catalogues of osteoporosis, including primary osteoporosis and secondary osteoporosis, according to the pathological causes. Since the demonstrations of osteoporosis are usually covered by other diseases, its therapeutic strategies are not satisfactory for both patients and clinicians.

[Application of adeno-associated virus-mediated gene therapy in lysosomal storage diseases].

Lysosomal storage disorders (LSDs) are a group of single-gene inherited metabolic diseases caused by defects in lysosomal enzymes or function-related proteins. Enzyme replacement therapy is the main treatment method in clinical practice, but it has a poor effect in patients with neurological symptoms. With the rapid development of multi-omics, sequencing technology, and bioengineering, gene therapy has been applied in patients with LSDs.

Non-Invasive Liver Fibrosis Scores Are Associated With Contrast-Associated Acute Kidney Injury in Patients Undergoing Elective Percutaneous Coronary Intervention.

Previous studies have demonstrated that non-invasive liver fibrosis scores (LFSs) are associated with kidney function deterioration. This study aimed to assess the predictive performance of LFSs in contrast-associated acute kidney injury (CA-AKI) in coronary artery disease (CAD) patients undergoing elective percutaneous coronary intervention (PCI). This retrospective study involved 5627 patients.

Prognostic Value of Different Versions of the Model for End-Stage Liver Disease Score in Patients Undergoing Percutaneous Coronary Intervention.

The model for end-stage liver disease (MELD) score, which can reflect liver and renal function, is associated with poor prognosis. However, the prognostic performance of the modified MELD score in patients undergoing elective percutaneous coronary intervention (PCI) has not been fully evaluated and compared. This study retrospectively enrolled 5324 patients.

Syncope as the Initial Manifestation of Advanced Nasopharyngeal Carcinoma: A Case Report.

Carotid sinus syndrome is a principal cause of syncope in the elderly. Syncope, associated with carotid sinus syndrome which is secondary to metastasis of advanced nasopharyngeal carcinoma, rarely occurs. The current study reported a 66-year-old woman, who presented with a history of frequent and recurrent syncope as the initial symptom, and was eventually diagnosed with advanced nasopharyngeal carcinoma.

Case Report: A Rare Syncope Case Caused by Abernethy II and a Review of the Literature.

Abernethy malformation is an extremely rare anomaly of the splanchnic venous system, and only 2 cases that manifested as syncope had been reported previously. A 24-year-old male had a 15-year history of jaundice and was in long-term use of hepatoprotective drugs. He was admitted for complaint of syncope.

Association Between Different Versions of the Model for End-Stage Liver Disease Score and Contrast-Associated Acute Kidney Injury in Patients Undergoing Elective Percutaneous Coronary Intervention.

Background: Pre-procedure liver dysfunction was associated with acute kidney injury after percutaneous coronary intervention (PCI). The aim of this study is to assess and compare the predictive value of different liver function scoring systems for contrast-associated acute kidney injury (CA-AKI) in patients undergoing elective PCI.

Methods and results: A total of 5,569 patients were retrospectively enrolled.

Predictive value of aspartate aminotransferase-to-alanine aminotransferase ratio for contrast-associated acute kidney injury in patients undergoing elective percutaneous coronary intervention.

Background: Pre-procedure liver insufficiency has been demonstrated as a poor prognostic factor after percutaneous coronary intervention (PCI). Recent research discovered that the aspartate aminotransferase-to-alanine aminotransferase ratio (De-Ritis ratio) reflects the severity of liver insufficiency and was associated with adverse outcomes. We aim to evaluate the predictive value of the De-Ritis ratio for contrast-associated acute kidney injury (CA-AKI) and long-term mortality in patients undergoing elective PCI.

Association between neutrophil percentage-to-albumin ratio and contrast-associated acute kidney injury in patients without chronic kidney disease undergoing percutaneous coronary intervention.

Background: Neutrophil and albumin are well-known biomarkers of inflammation, which are highly related to contrast-associated acute kidney injury (CA-AKI). We aim to explore the predictive value of neutrophil percentage-to-albumin ratio (NPAR) for CA-AKI and long-term mortality in patients without chronic kidney disease (CKD) undergoing elective percutaneous coronary intervention (PCI).

Methods: We retrospectively observed 5083 consenting patients from January 2012 to December 2018.

Fentanyl Inhibits Air Puff-Evoked Sensory Information Processing in Mouse Cerebellar Neurons Recorded .

: To examine the effects of fentanyl, a potent mu-opioid receptor (MOR) agonist, on-air puff-evoked responses in Purkinje cells (PCs), and molecular layer interneurons (MLIs) using patch-clamp recordings in anesthetized mice. : Male mice 6-8 weeks-old were anesthetized and fixed on a custom-made stereotaxic frame. The cerebellar surface was exposed and perfused with oxygenated artificial cerebrospinal fluid (ACSF).