A Comparison of Prescribing Guideline-Advocated Treatment for Heart Failure at Discharge from Cardiology and Non-Cardiology Wards.

Background: Adherence to heart failure (HF) management guidelines is important to optimise clinical outcomes but can be variable in practice. This study compared prescribing guideline-advocated pharmacological and non-pharmacological management of HF between patients discharged from cardiology and non-cardiology wards.

Method: A retrospective audit of electronic medical records was undertaken of patients discharged from cardiology (n=100) or non-cardiology wards (n=100) of a tertiary hospital with a primary diagnosis of HF.

Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report.

Optical Genome Mapping (OGM) technology has garnered growing interest for the identification of chromosomal structural variations (SVs), particularly complex ones that are implicated in genetic diseases in humans. In this study, we performed genetic diagnostics on a neonatal patient who presented with feeding difficulties, hypotonia, and an atrial septal defect. We utilized a combination of trio-whole exome sequencing and OGM for our analysis.

Differences in the amplitude of low-frequency fluctuations of spontaneous brain activity between preterm and term infants.

Objectives: To date, the majority of research on resting-state functional magnetic resonance imaging (rs-fMRI) in the developing brain has primarily centered on adolescents and adults, leaving a gap in understanding variations in spontaneous brain activity at rest in preterm infants. This study aimed to uncover and comprehend the distinctions in spontaneous brain activity between preterm and term infants, with the goal of establishing a foundation for assessing the condition of preterm infants.

Methods: In this study, 14 term infants and 15 preterm infants with equivalent gestational age were carefully chosen from the neonatal unit of Anhui Provincial Children's Hospital.

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.

Background: Nephronophthisis (NPHP) is a genetically heterogeneous disease that can lead to end-stage renal disease (ESRD) in children. The TTC21B variant is associated with NPHP12 and mainly characterized by cystic kidney disease, skeletal malformation, liver fibrosis, and retinopathy. Affected patients range from children to adults.

Case Report: Mutation in (c. 544G>A): a novel likely pathogenic mechanism of neonatal dilated cardiomyopathy.

Background: Dilated cardiomyopathy (DCM) is a rare disease that causes heart failure due to malfunction of the heart muscle characterized by left ventricular dilation and poor systolic function. Genetic screening leads to advantages in early diagnosis and prognostic assessment of patients with suspected inherited cardiomyopathies. Here, we report a case of neonatal dilated cardiomyopathy due to a mutation of the gene, which has not been published in neonatal dilated cardiomyopathy before.

Effect of different ventilation methods combined with pulmonary surfactant on neonatal acute respiratory distress syndrome.

Background: Acute respiratory distress syndrome precipitates is widespread pulmonary injury in impacted individuals, the neonatal respiratory distress syndrome (NRDS), primarily observed in preterm infants, represents a prevalent critical condition in neonatal clinical settings.

Aim: To investigate the clinical efficacy of various ventilation strategies combined with pulmonary surfactant (PS) therapy in the treatment of NRDS.

Methods: A total of 20 neonates diagnosed with respiratory distress syndrome, admitted between May 2021 and June 2022, were randomly assigned to either a research group or a control group.

Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.

Background: Craniofacial microsomia (CFM) is a common congenital malformation with unknown pathogenesis. Although few cases have been reported, it is suggested that variants of the SF3B2 gene may lead to CFM. We herein report the case of a neonate with CFM exhibiting rare features of airway obstruction.

rimary care dherence o eart ailure guidelines iagnosis, valuation and outine management (PATHFINDER): a randomised controlled trial protocol.

Introduction: General practitioners (GPs) routinely provide care for patients with heart failure (HF); however, adherence to management guidelines, including titrating medication to optimal dose, can be challenging in this setting. This study will evaluate the effectiveness of a multifaceted intervention to support adherence to HF management guidelines in primary care.

Methods And Analysis: We will undertake a multicentre, parallel-group, randomised controlled trial of 200 participants with HF with reduced ejection fraction.

Novel variants of associated with neonatal arthrogryposis: Two case reports and a literature review.

Pathogenic variants in (MIM: 609798) have been identified in patients with lethal congenital contracture syndrome 10 (OMIM: 617022) and arthrogryposis, Perthes disease, and upward gaze palsy (APUG and OMIM: 614262). The shared core phenotype is multiple joint contractures or arthrogryposis. In the present study, three novel variants of associated with neonatal arthrogryposis were reported.

[Value of intestinal regional oxygen saturation and C-reactive protein in the diagnosis of necrotizing enterocolitis in preterm infants].

Objectives: To study the clinical value of intestinal regional oxygen saturation (rSO) and C-reactive protein (CRP) in the diagnosis of necrotizing enterocolitis (NEC) in preterm infants.

Methods: A prospective observational study was conducted among the preterm infants who were hospitalized in Children's Hospital Affiliated to Anhui Medical University, from October 2020 to December 2021, with 22 infants in the NEC group and 35 infants in the non-NEC group. Intestinal rSO was monitored 24 hours after a confirmed diagnosis of NEC in the NEC group, and serum CRP levels were measured before anti-infection therapy.

Relationship of plasma MBP and 8-oxo-dG with brain damage in preterm.

Preterm infants face a significant risk of brain injury in the perinatal period, as well as potential long-term neurodevelopmental disabilities. However, preterm children with brain injury lack specific clinical manifestations in the early days. Therefore, timely and accurate diagnosis of brain injury is of vital importance.

The Value of Macrogene Second-Generation Sequencing in the Diagnosis, Guidance of Drug Use, and Efficacy Monitoring of Infectious Pneumonia in Premature Infants.

Objective: A group-controlled trial was conducted to explore the value of macrogene second-generation sequencing in the diagnosis, drug use, and efficacy monitoring of infectious pneumonia in premature infants.

Methods: One hundred and thirty-eight premature infants with suspected infectious pneumonia treated in our hospital from March 2019 to June 2022 were selected as subjects. All patients underwent deep phlegm extraction and were randomly divided into two groups.

Noonan syndrome caused by RIT1 gene mutation: A case report and literature review.

Objective: Noonan syndrome (NS), an autosomal dominant disease known as a RASopathy, is caused by germline mutations in mitogen-activated protein kinase pathway genes. A gene mutation has been found to cause NS. The present study summarizes gene mutation sites and associated clinical phenotypes.

Development and Validation of a Nomogram for Predicting the Risk of Bell's Stage II/III Necrotizing Enterocolitis in Neonates Compared to Bell's Stage I.

Background: Patients with Bell's Stage II/III necrotizing enterocolitis (NEC) may have more severe presentations, higher rates of death, and more long-term complications than those with Bell's Stage I NEC, so the purpose of this article was to construct a nomogram model to distinguish Bell's stage II/III NEC early from Bell's Stage I NEC, which is critical in the clinical management of NEC.

Patients And Methods: A total of 730 NEC newborns diagnosed from January 2015 to January 2021 were retrospectively studied. They were randomly divided into training and validation groups at the ratio of 7:3.

[Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome].

Objective: To explore the clinical features and genetic etiology for a neonate with Smith-Magenis syndrome (SMS).

Methods: Copy number variation sequencing (CNV-seq) was applied to the neonate and his parents, and the genotype-phenotype correlation was analyzed.

Results: On the second day after birth, the neonate had presented with pathological jaundice and immunodeficiency.

Transarterial Embolization in Neonatal Kasabach-Merritt Syndrome.

Kasabach-Merritt syndrome (KMS) is characterized by large hemangiomas and persistent thrombocytopenia, which may result in visceral hemorrhage and disseminated intravascular coagulation. This study aimed to evaluate the value of transarterial embolization (TAE) in neonatal KMS patients. The clinical course of 11 neonates with KMS who underwent TAE in the Department of Neonatology, Anhui Provincal Children's Hospital, Anhui Medical University, China, were reviewed retrospectively.

Angiopoietin-2 silence alleviates lipopolysaccharide-induced inflammation, barrier dysfunction and endoplasmic reticulum stress of intestinal epithelial cells by blocking Notch signaling pathway.

Necrotizing enterocolitis, a devastating gastrointestinal disease with high mortality, poses great threats to global health. Therefore, we conducted this study to explore the role of ANGPT2, as well as the potential mechanism, in necrotizing enterocolitis. IEC-6 cells were stimulated with lipopolysaccharide (LPS) to induce necrotizing enterocolitis model in vitro.

Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.

Background: Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) is a rare genetic disorder presenting with fever, hepatosplenomegaly, and pancytopenia secondary to perforin-1 (PRF1) mutation. FLH2 has been described in Chinese but usually presents after 1 year old. We describe a female Chinese neonate with FHL2 secondary to compound heterozygous PRF1 mutation with symptom onset before 1 mo old.

[Clinical features of Kasabach-Merritt syndrome: an analysis of 16 neonates].

Objective: To study the clinical features, treatment, and prognosis of neonates with Kasabach-Merritt syndrome (KMS), and to provide a reference for optimizing the diagnosis and treatment of this disease.

Methods: A retrospective analysis was performed for the clinical and follow-up data of 16 neonates with KMS who were admitted to the Anhui Children's Hospital, Anhui Medical University, from January 2016 to December 2020.

Results: Of the 16 neonates, there were 13 boys (81%) and 3 girls (19%), with an age of 1 hour to 10 days on admission.

The effects of short time hyperoxia on glutamate concentration and glutamate transporters expressions in brain of neonatal rats.

Preterm infants often suffer from impaired postnatal brain development, and glutamate excitotoxicity is identified as a pivotal mechanism of hyperoxia-induced neurological abnormality. We aimed to investigate the effect of short time hyperoxia on glutamate homeostasis and glutamate transporters expressions in immature brain. Six-day-old (P6) rat pups were exposed to 80% oxygen for 24 h (the hyperoxia group) or placed in atmospheric air (the control group).

Asphyxia and Neonatal Respiratory Distress Syndrome Are Independent Predictors of the Non-response to Inhaled Nitric Oxide in the Newborns With PPHN.

Not all the neonates respond with improvement in oxygenation following inhaled nitric oxide treatment (iNO) treatment. The aim of this study was to assess the independent risk factors associated with non-response to iNO during the 2 weeks of postnatal treatment in neonates diagnosed with persistent pulmonary hypertension (PPHN). This retrospective cohort study included all newborns with PPHN who received iNO treatment for more than 24 h.

Hemokinin-1 and substance P stimulate production of inflammatory cytokines and chemokines in human colonic mucosa via both NK and NK tachykinin receptors.

There is increasing focus on the involvement of tachykinins in immune and inflammatory responses. Hemokinin-1 (HK-1) is a recently identified tachykinin that originates primarily from immune cells, and has structural similarities to substance P (SP), found mainly in neurons. However, there are species differences in HK-1, and the role of HK-1 in humans, particularly the intestine, has received minimal attention.

Rh-incompatible hemolytic disease of the newborn in Hefei.

Background: Anti-D antibody is not the common cause of Rh-isoimmunization in Chinese neonatal jaundice. Recent change in national population policy has followed by an increase in Rh-isoimmunization related hemolytic disease of the newborn (HDN). Unfortunately, regional status of Rh-HDN is unavailable.