[Chest computed tomography manifestations in neonates with chronic granulomatous disease].

Objectives: To study chest computed tomography (CT) manifestations in neonates with chronic granulomatous disease (CGD) to provide clues for early diagnosis of this disease.

Methods: A retrospective analysis was conducted on the clinical data and chest CT scan results of neonates diagnosed with CGD from January 2015 to December 2022 at Anhui Provincial Children's Hospital.

Results: Nine neonates with CGD were included, with eight presenting respiratory symptoms as the initial sign.

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.

Analysis of Influencing Factors for Stackable and Expandable Acoustic Metamaterial with Multiple Tortuous Channels.

To reduce the noise generated by large mechanical equipment, a stackable and expandable acoustic metamaterial with multiple tortuous channels (SEAM-MTCs) was developed in this study. The proposed SEAM-MTCs consisted of odd panels, even panels, chambers, and a final closing plate, and these component parts could be fabricated separately and then assembled. The influencing factors, including the number of layers , the thickness of panel , the size of square aperture , and the depth of chamber were investigated using acoustic finite element simulation.

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.

Background: Early infantile epileptic encephalopathy (EIEE) is a group of highly heterogeneous diseases, both phenotypically and genetically. Usually, it starts early on and manifests as intractable epilepsy, abnormal electroencephalogram, and growth retardation/intellectual impairment. With the advent of next-generation sequencing (NGS), its genetic etiology has attracted increasing clinical attention.

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.

Effects of Aperture Shape on Absorption Property of Acoustic Metamaterial of Parallel-Connection Helmholtz Resonator.

A Helmholtz resonator (HR) with an embedded aperture is an effective acoustic metamaterial for noise reduction in the low-frequency range. Its sound absorption property is significantly affected by the aperture shape. Sound absorption properties of HRs with the embedded aperture for various tangent sectional shapes were studied by a two-dimensional acoustic finite element simulation.

Adjustable Sound Absorber of Multiple Parallel-Connection Helmholtz Resonators with Tunable Apertures Prepared by Low-Force Stereolithography of Photopolymer Resin.

The variable noise spectrum for many actual application scenarios requires a sound absorber to adapt to this variation. An adjustable sound absorber of multiple parallel-connection Helmholtz resonators with tunable apertures (TA-MPCHRs) is prepared by the low-force stereolithography of photopolymer resin, which aims to improve the applicability of the proposed sound absorber for noise with various frequency ranges. The proposed TA-MPCHR metamaterial contains five metamaterial cells.

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.

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.